TESTS BY DISEASE
Tests Found: 5774
Disease Name
Number of Tests Offered
18 Hydroxylase Deficiency
2
2,4-dienoyl-CoA reductase deficiency
5
2-aminoadipic 2-oxoadipic aciduria
3
2-Methyl-3-Hydroxybutyric Aciduria
10
2-Methylbutyryl-CoA Dehydrogenase Deficiency
5
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency
8
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of
7
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
10
3-M Syndrome
2
3-Methylcrotonyl CoA Carboxylase 2 Deficiency
10
3-Methylglutaconic Aciduria
9
3-Methylglutaconic Aciduria Type 2
19
3-Methylglutaconic Aciduria Type 3
9
3-Methylglutaconic Aciduria Type V
9
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome
8
3-methylglutaconic aciduria, type IX
6
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
10
3-methylglutaconic aciduria, type VIIA, autosomal dominant
2
3-methylglutaconic aciduria, type VIII
9
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency
7
3MC syndrome 1
5
3MC syndrome 2
4
46, XX sex reversal 4
2
46,XX sex reversal 5
3
46,XX Sex Reversal, Type 1
8
46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
2
46,XY Sex Reversal 8
6
46,XY Sex Reversal, Type 1
4
46,XY Sex Reversal, Type 2
3
46,XY Sex Reversal, Type 3
5
46,XY Sex Reversal, Type 5
4
46,XY Sex Reversal, Type 6
8
46,XY Sex Reversal, Type 7
6
46XY Sex Reversal 9
7
5-oxoprolinase deficiency
1
5Q- Syndrome
1
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
5
Aarskog Syndrome
6
ABCD Syndrome
6
Abdominal obesity-metabolic syndrome 3
3
Ablepharon-macrostomia syndrome
1
Abnormal hair, joint laxity, and developmental delay
1
Abruzzo-Erickson syndrome
3
Acatalasemia
1
Aceruloplasminemia
7
Acetyl-CoA Acetyltransferase-2 Deficiency
2
Acetyl-CoA Carboxylase Deficiency
1
Acheiropody
5
Achondrogenesis Type 2
14
Achondrogenesis, Type Ia
4
Achondrogenesis, Type Ib
8
Achondroplasia
15
Achromatopsia 2
5
Achromatopsia 3
5
Achromatopsia 4
5
Achromatopsia 7
4
Acne Inversa, Familial, 2
2
Acne Inversa, Familial, 3
3
Acquired Partial Lipodystrophy
4
Acrocallosal Syndrome, Schinzel Type
20
Acrocapitofemoral Dysplasia
5
Acrodermatitis Enteropathica
5
Acrodysostosis
5
Acrodysostosis 2, with or without Hormone Resistance
7
Acrofacial Dysostosis 1, Nager Type
11
Acrofacial dysostosis, Cincinnati type
4
Acrokeratosis Verruciformis Of Hopf
1
Acromelic frontonasal dysostosis
4
Acromesomelic Dysplasia Hunter Thompson Type
6
Acromesomelic Dysplasia Maroteaux Type
4
Acromicric Dysplasia
15
Acth Deficiency
1
ACTH Resistance
3
ACTH-independent macronodular adrenal hyperplasia
3
Acute Alcohol Sensitivity
1
Acute Intermittent Porphyria
7
Acute Lymphoblastic Leukemia
7
Adams-Oliver Syndrome 1
12
Adams-Oliver Syndrome 2
12
Adams-Oliver Syndrome 3
6
Adams-Oliver Syndrome 4
10
Adams-Oliver Syndrome 5
8
Adams-Oliver Syndrome 6
8
Adenine Phosphoribosyltransferase Deficiency
3
Adenomatous Polyposis Coli
7
Adenosine Triphosphate, Elevated, Of Erythrocytes
2
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
2
Adenylosuccinate Lyase Deficiency
10
Adermatoglyphia
1
Adolescent Nephronophthisis
11
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
3
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
7
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete
8
Adrenocortical Carcinoma, Hereditary
6
Adrenoleukodystrophy
13
Adult Hypophosphatasia
11
Adult Onset Ataxia With Oculomotor Apraxia
9
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant
4
ADULT Syndrome
10
Advanced sleep-phase syndrome, familial, 2
1
Afibrinogenemia
2
Afibrinogenemia, congenital
12
Agammaglobulinemia 1
4
Agammaglobulinemia 10, autosomal dominant
2
Agammaglobulinemia 2, Autosomal Recessive
4
Agammaglobulinemia 3, Autosomal Recessive
4
Agammaglobulinemia 4, Autosomal Recessive
4
Agammaglobulinemia 5, Autosomal Dominant
4
Agammaglobulinemia 6, Autosomal Recessive
5
Agammaglobulinemia 7, Autosomal Recessive
10
Agammaglobulinemia 8, autosomal dominant
4
AGAT Deficiency
7
Age-Related Macular Degeneration 1
7
Age-Related Macular Degeneration 11
2
Age-Related Macular Degeneration 4
7
Age-Related Macular Degeneration 5
7
Age-Related Macular Degeneration 6
3
Age-Related Macular Degeneration 7
4
Age-Related Macular Degeneration 9
3
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
6
Agnathia-Otocephaly Complex
4
AICAR Transformylase/Imp Cyclohydrolase Deficiency
2
Aicardi-Goutieres Syndrome 1
12
Aicardi-Goutieres Syndrome 2
10
Aicardi-Goutieres Syndrome 3
10
Aicardi-Goutieres Syndrome 4
10
Aicardi-Goutieres Syndrome 5
10
Aicardi-Goutieres Syndrome 6
7
Aicardi-Goutieres Syndrome 7
10
Aicardi-Goutieres syndrome 8
2
Aicardi-Goutieres syndrome 9
2
Al Kaissi syndrome
1
Al-Gazali syndrome
5
Al-Gazali-Bakalinova syndrome
15
Al-Raqad Syndrome
1
Alacrima, Achalasia, and Mental Retardation Syndrome
5
Alagille Syndrome 1
17
Alagille Syndrome 2
15
Aland Island Eye Disease
6
Alazami Syndrome
3
Alazami-Yuan Syndrome
2
Albinism, Ocular, With Sensorineural Deafness
9
Albinism, Oculocutaneous, Type VII
4
Alcohol Dependence
2
Alexander Disease
8
Alkaptonuria
2
Alkuraya-Kucinskas syndrome
9
Allan-Herndon-Dudley Syndrome
8
Alopecia-mental retardation syndrome 4
2
Alpha Thalassemia
6
Alpha, Alpha-Trehalase Deficiency
2
Alpha-1-Antitrypsin Deficiency
3
Alpha-B Crystallinopathy
7
Alpha-Ketoglutarate Dehydrogenase Deficiency
2
Alpha-Methylacetoacetic Aciduria
9
Alpha-Methylacyl-CoA Racemase Deficiency
9
Alpha-Thalassemia Myelodysplasia Syndrome
10
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity
3
Alport Syndrome, Autosomal Dominant
7
Alport Syndrome, Autosomal Recessive
9
Alport Syndrome, X-Linked Recessive
7
Alstrom Syndrome
12
Alternating Hemiplegia Of Childhood
7
Alternating Hemiplegia of Childhood 2
12
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
5
Alzheimer's Disease
11
Alzheimer's Disease 9, Susceptibility to
1
Alzheimer's Disease, Type 2
5
Alzheimer's Disease, Type 3
10
Alzheimer's Disease, Type 4
9
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome
3
Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome
1
Amelogenesis Imperfecta, Hypomaturation Type, IIa1
2
Amelogenesis Imperfecta, Hypomaturation Type, IIa2
2
Amelogenesis Imperfecta, Hypomaturation Type, IIa3
2
Amelogenesis imperfecta, hypomaturation type, IIA4
2
Amelogenesis Imperfecta, Hypomaturation Type, IIA6
1
Amelogenesis Imperfecta, Type IA
2
Amelogenesis Imperfecta, Type Ib
2
Amelogenesis Imperfecta, Type Ic
2
Amelogenesis Imperfecta, Type Ie
4
Amelogenesis imperfecta, type IF
1
Amelogenesis Imperfecta, Type IG (Enamel-Renal Syndrome)
3
Amelogenesis Imperfecta, Type IH
1
Amelogenesis Imperfecta, Type IIA5
1
Amelogenesis Imperfecta, Type III
2
Amelogenesis imperfecta, type IIIB
1
Amelogenesis imperfecta, type IIIC
1
Amelogenesis imperfecta, type IJ
1
Amelogenesis imperfecta, type IK
1
Amelogenesis Imperfecta, Type IV
3
Aminoacylase 1 Deficiency
7
Amish Infantile Epilepsy Syndrome
5
Amish Lethal Microcephaly
5
Aml - Acute Myeloid Leukemia
26
Amyloidogenic Transthyretin Amyloidosis
13
Amyloidosis, Finnish Type
6
Amyotrophic Lateral Sclerosis 16, Juvenile
6
Amyotrophic lateral sclerosis 19
1
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
3
Amyotrophic lateral sclerosis 27, juvenile
3
Amyotrophic lateral sclerosis 5, juvenile
7
Amyotrophic Lateral Sclerosis Type 1
6
Amyotrophic Lateral Sclerosis Type 10
6
Amyotrophic Lateral Sclerosis Type 11
10
Amyotrophic Lateral Sclerosis Type 12
5
Amyotrophic Lateral Sclerosis Type 14
7
Amyotrophic Lateral Sclerosis Type 15
5
Amyotrophic Lateral Sclerosis Type 17
5
Amyotrophic Lateral Sclerosis Type 18
4
Amyotrophic Lateral Sclerosis Type 2
6
Amyotrophic Lateral Sclerosis Type 20
3
Amyotrophic Lateral Sclerosis Type 4
6
Amyotrophic Lateral Sclerosis Type 6
5
Amyotrophic Lateral Sclerosis Type 8
5
Amyotrophic Lateral Sclerosis Type 9
2
Amyotrophic lateral sclerosis, susceptibility to, 24
9
Amyotrophic Lateral Sclerosis, Susceptibility to, 25
5
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
1
Amytrophic Lateral Sclerosis 23
3
Analbuminemia
1
Anauxetic Dysplasia
6
Anauxetic dysplasia 2
2
Anauxetic dysplasia 3
3
Andermann Syndrome
6
Andersen Tawil Syndrome
11
Androgen Resistance Syndrome
8
Anemia Sideroblastic And Spinocerebellar Ataxia
6
Anemia, Hypochromic Microcytic, With Iron Overload
1
Anemia, hypochromic microcytic, with iron overload 2
1
Anemia, neonatal hemolytic, fatal or near-fatal
1
Anemia, sideroblastic, 3, pyridoxine-refractory
6
Anemia, sideroblastic, 4
4
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
4
Angelman Syndrome
10
Angioedema, hereditary, 4
1
Angioedema, hereditary, 5
1
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
12
Anhidrosis, isolated, with normal sweat glands
1
Aniridia 2
7
Aniridia, Cerebellar Ataxia, And Mental Retardation
6
Anterior segment dysgenesis 6, multiple subtypes
2
Anterior segment dysgenesis 8
3
Anterior Segment Mesenchymal Dysgenesis
9
Anti-Plasmin Deficiency, Congenital
3
Antithrombin III Deficiency
3
Antley-Bixler Syndrome
13
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
11
Aortic Aneurysm, Familial Thoracic 10
7
Aortic Aneurysm, Familial Thoracic 11, susceptibility to
8
Aortic Aneurysm, Familial Thoracic 4
11
Aortic Aneurysm, Familial Thoracic 6
10
Aortic Aneurysm, Familial Thoracic 7
9
Aortic Aneurysm, Familial Thoracic 8
7
Aortic Aneurysm, Familial Thoracic 9
5
Aortic valve disease 2
3
Aortic valve disease 8
1
Aortic Valve Disorder
8
Apert Syndrome
14
Aphakia, Congenital Primary
12
Aplasia cutis congenita, nonsyndromic
1
Aplasia Of Lacrimal And Salivary Glands
3
Aplastic Anemia
11
ApoA-I and apoC-III deficiency, combined
6
Apolipoprotein C2 Deficiency
3
Apparent Mineralocorticoid Excess
4
Arginase Deficiency
11
Argininosuccinate Lyase Deficiency
6
Aromatase Deficiency
3
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1
12
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10
9
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11
9
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12
11
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2
11
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5
8
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8
11
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9
9
Arrhythmogenic right ventricular dysplasia, familial, 13
5
Arrhythmogenic right ventricular dysplasia, familial, 14
5
Arterial Calcification Of Infancy
11
Arterial Calcification, Generalized, of Infancy, 2
10
Arterial Tortuosity Syndrome
9
Arteriovenous Malformations Of The Brain
9
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
4
Arthrogryposis multiplex congenita 5
2
Arthrogryposis Multiplex Congenita Distal Type 1
6
Arthrogryposis Multiplex Congenita, Distal, X-Linked
3
Arthrogryposis multiplex congenita, myogenic type
2
Arthrogryposis multiplex congenita, neurogenic type
1
Arthrogryposis multiplex congenita, neurogenic, with myelin defect
3
Arthrogryposis Renal Dysfunction Cholestasis Syndrome
5
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
3
Arthrogryposis, Distal, Type 1B
5
Arthrogryposis, distal, type 1C
1
Arthrogryposis, Distal, Type 2B
12
Arthrogryposis, distal, type 2B2
3
Arthrogryposis, distal, type 2B3 (Sheldon-Hall)
6
Arthrogryposis, Distal, Type 3
6
Arthrogryposis, Distal, Type 5
6
Arthrogryposis, distal, type 5D
6
Arthrogryposis, Distal, Type 7
5
Arthrogryposis, Distal, Type 8
9
Arthrogryposis, Distal, with Impaired Proprioception and Touch
4
Arthrogryposis, Mental Retardation, and Seizures
2
Arthrogryposis, Perthes disease, and upward gaze palsy
3
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
5
Arts Syndrome
7
Asparagine synthetase deficiency
5
Aspartylglycosaminuria
7
Asperger Syndrome, X-Linked, Susceptibility To, 1
3
Asperger Syndrome, X-Linked, Susceptibility To, 2
5
Aspergillosis, Susceptibility To
2
Asplenia, isolated congenital
3
Asthma, Nasal Polyps, And Aspirin Intolerance
2
Ataxia With Vitamin E Deficiency
4
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
4
Ataxia, sensory, 1, autosomal dominant
2
Ataxia-Oculomotor Apraxia 3
3
Ataxia-oculomotor apraxia 4
5
Ataxia-Pancytopenia Syndrome
8
Ataxia-Telangiectasia Syndrome
19
Ataxia-Telangiectasia-Like Disorder
11
Ataxia-telangiectasia-like disorder 2
1
Atelosteogenesis, type I
5
Atelosteogenesis, Type II
9
Atelosteogenesis, type III
5
Athabaskan Brainstem Dysgenesis
5
ATR-X Syndrome
17
Atransferrinemia
1
Atrial fibrillation 15
4
Atrial Fibrillation, Familial, 10
7
Atrial Fibrillation, Familial, 11
6
Atrial Fibrillation, Familial, 12
10
Atrial Fibrillation, Familial, 13
8
Atrial Fibrillation, Familial, 14
7
Atrial Fibrillation, Familial, 18
5
Atrial Fibrillation, Familial, 3
8
Atrial Fibrillation, Familial, 4
7
Atrial Fibrillation, Familial, 6
6
Atrial Fibrillation, Familial, 7
7
Atrial Fibrillation, Familial, 9
9
Atrial Myxoma, Familial
7
Atrial Septal Defect 2
9
Atrial Septal Defect 3
8
Atrial Septal Defect 4
5
Atrial Septal Defect 5
7
Atrial Septal Defect 6
2
Atrial septal defect 8
2
Atrial septal defect 9
7
Atrial Septal Defect With Atrioventricular Conduction Defects
12
Atrial standstill 2
2
Atrial standstill, digenic (GJA5/SCN5A)
2
Atrioventricular Septal Defect
11
Atrioventricular Septal Defect 2
6
Atrioventricular Septal Defect 4
9
Atrioventricular septal defect 5
7
Attention Deficit-Hyperactivity Disorder
1
Attention deficit-hyperactivity disorder 8
1
Atypical Hemolytic-Uremic Syndrome 1
6
Atypical Hemolytic-Uremic Syndrome 2
2
Atypical Hemolytic-Uremic Syndrome 3
2
Atypical Hemolytic-Uremic Syndrome 4
4
Atypical Hemolytic-Uremic Syndrome 5
4
Atypical Hemolytic-Uremic Syndrome 6
4
Atypical Mycobacteriosis, Familial
3
Atypical Mycobacteriosis, Familial, X-Linked 2
5
Au-Kline syndrome
5
Auditory neuropathy and optic atrophy
7
Auditory neuropathy, autosomal dominant, 1
1
Aural atresia, congenital
1
Auriculocondylar syndrome 1
3
Auriculocondylar syndrome 2
4
Auriculocondylar syndrome 3
2
Autism 10
1
Autism 15
5
Autism 17
1
Autism Susceptibility 1
3
Autism, Susceptibility to, 18
6
Autism, Susceptibility To, X-Linked 1
3
Autism, Susceptibility To, X-Linked 2
5
Autism, Susceptibility To, X-Linked 3
7
Autism, Susceptibility to, X-linked 4
3
Autism, Susceptibility To, X-Linked 5
4
Autism, Susceptibility to, X-linked 6
2
Autoimmune Disease 6
2
Autoimmune Disease, Multisystem, Infantile-Onset, 1
8
Autoimmune disease, multisystem, infantile-onset, 2
3
Autoimmune Disease, Syndromic Multisystem
4
Autoimmune interstitial lung, joint, and kidney disease
3
Autoimmune Lymphoproliferative Syndrome
6
Autoimmune Lymphoproliferative Syndrome, Type 2
4
Autoimmune Lymphoproliferative Syndrome, Type III
5
Autoimmune Lymphoproliferative Syndrome, Type V
5
Autoimmune Thyroid Disease 3
1
Autoinflammation with arthritis and dyskeratosis
2
Autoinflammation with episodic fever and lymphadenopathy
3
Autoinflammation with Infantile Enterocolitis
5
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
5
Autoinflammation, immune dysregulation, and eosinophilia
1
Autoinflammation, panniculitis, and dermatosis syndrome
2
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked
2
Autoinflammatory disease, systemic, X-linked
1
Autoinflammatory Syndrome, Familial, Behcet-like
4
Autoinflammatory syndrome, familial, with or without immunodeficiency
2
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
2
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E
6
Autosomal Recessive Centronuclear Myopathy
4
Autosomal Recessive Cutis Laxa Type 3A
11
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome
3
Autosomal Recessive Hypophosphatemic Bone Disease
7
Avascular Necrosis Of Femoral Head, Primary
13
Avascular necrosis of femoral head, primary, 2
4
Avellino Corneal Dystrophy
2
Axenfeld-Rieger Syndrome Type 3
12
Axenfeld-Rieger syndrome, type 1
15
Ayme-Gripp Syndrome
8
Azorean Disease
1
B-cell expansion with NFKB and T-cell anergy
4
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
1
Bacteremia, Susceptibility To, 1
2
Bainbridge-Ropers Syndrome
6
Baker-Gordon syndrome
4
Baller-Gerold Syndrome
13
Bamforth Syndrome
2
Band Heterotopia
5
Bannayan-Riley-Ruvalcaba Syndrome
8
Baraitser-Winter Syndrome 1
14
Baraitser-Winter Syndrome 2
8
Barakat Syndrome
7
Barber-Say Syndrome
3
Bardet-Biedl Syndrome 1
17
Bardet-Biedl Syndrome 10
16
Bardet-Biedl Syndrome 11
17
Bardet-Biedl Syndrome 12
16
Bardet-Biedl Syndrome 13
17
Bardet-Biedl Syndrome 14
15
Bardet-Biedl Syndrome 15
11
Bardet-Biedl Syndrome 16
14
Bardet-Biedl Syndrome 17
12
Bardet-Biedl Syndrome 18
11
Bardet-Biedl Syndrome 19
13
Bardet-Biedl Syndrome 2
15
Bardet-Biedl syndrome 20
4
Bardet-Biedl Syndrome 20
9
Bardet-Biedl Syndrome 21
11
Bardet-Biedl Syndrome 3
16
Bardet-Biedl Syndrome 4
16
Bardet-Biedl Syndrome 5
17
Bardet-Biedl Syndrome 6
19
Bardet-Biedl Syndrome 7
16
Bardet-Biedl Syndrome 8
15
Bardet-Biedl Syndrome 9
16
Bare Lymphocyte Syndrome, Type I
2
Barrett Esophagus
3
Bartter Syndrome Antenatal Type 1
6
Bartter Syndrome Antenatal Type 2
5
Bartter Syndrome Type 4
6
Bartter syndrome, type 5, antenatal, transient
2
Basal cell carcinoma 7
6
Basal Cell Carcinoma, Multiple
8
Basal cell nevus syndrome 2
2
Basal Ganglia Calcification, Idiopathic, 1
3
Basal Ganglia Calcification, Idiopathic, 4
8
Basal Ganglia Calcification, Idiopathic, 5
5
Basal Ganglia Calcification, Idiopathic, 6
4
Basal ganglia cancification, idiopathic, 7, autosomal recessive
2
Basal Ganglia Disease, Biotin-Responsive
12
Basal Laminar Drusen
6
Basan syndrome
2
Basel-Vanagait-Smirin-Yosef Syndrome
1
Basilicata-Akhtar syndrome
2
Beck-Fahrner syndrome
1
Becker Muscular Dystrophy
8
Becker nevus, syndromic or isolated, somatic mosaic
2
Beckwith-Wiedemann Syndrome
15
Behr Syndrome
9
Benign Familial Hematuria
5
Benign Familial Neonatal Seizures 1
7
Benign Familial Neonatal-Infantile Seizures
9
Benign Hereditary Chorea
3
Benign Recurrent Intrahepatic Cholestasis 1
5
Benign Recurrent Intrahepatic Cholestasis 2
4
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy
11
Bent bone dysplasia syndrome
13
Bernard Soulier Syndrome
11
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
7
Bestrophinopathy, Autosomal Recessive
9
Beta Thalassemia, Dominant Inclusion Body Type
1
Beta-D-Mannosidosis
7
Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency
7
Beta-Ureidopropionase Deficiency
4
Bethlem Myopathy
14
Bethlem Myopathy
7
Bethlem Myopathy 2
9
BH4-Deficient Hyperphenylalaninemia D
5
Bietti Crystalline Corneoretinal Dystrophy
4
Bifid Nose With Or Without Anorectal And Renal Anomalies
8
Bile acid conjugation defect 1
1
Bile Acid Malabsorption, Primary
5
Bile Acid Synthesis Defect, Congenital, 1
4
Bile Acid Synthesis Defect, Congenital, 2
4
Bile Acid Synthesis Defect, Congenital, 3
6
Bile Acid Synthesis Defect, Congenital, 4
9
Bile Acid Synthesis Defect, Congenital, 5
3
Bile acid synthesis defect, congenital, 6
3
Bilirubin, Serum Level Of, Quantitative Trait Locus 1
3
Birk Barel Mental Retardation Dysmorphism Syndrome
1
Birk-Landau-Perez syndrome
2
Birt-Hogg-Dube Syndrome
5
Bjornstad Syndrome
7
Bladder Cancer
15
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
1
Bleeding Disorder, Platelet-Type, 11
3
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
3
Bleeding Disorder, Platelet-Type, 14
2
Bleeding Disorder, Platelet-Type, 15
4
Bleeding disorder, platelet-type, 16, autosomal dominant
6
Bleeding Disorder, Platelet-Type, 17
4
Bleeding Disorder, Platelet-Type, 18
1
Bleeding Disorder, Platelet-Type, 19
4
Bleeding disorder, platelet-type, 20
1
Bleeding Disorder, Platelet-Type, 21
2
Bleeding disorder, platelet-type, 22
2
Bleeding disorder, platelet-type, 24, autosomal dominant
2
Bleeding Disorder, Platelet-Type, 8
5
Bleeding Disorder, Platelet-Type, 9
2
Blepharocheilodontic syndrome 1
7
Blepharocheilodontic syndrome 2
3
Blepharophimosis, Ptosis, And Epicanthus Inversus
8
Blepharophimosis-impaired intellectual development syndrome
4
Blepharospasm
1
Blood Group, Cromer System
2
Blood Group--Diego System
2
Blood Group--Froese
2
Blood Group--I System
2
Blood Group--Lutheran Inhibitor
4
Blood Group--Ok
1
Blood Group--Swann System
2
Blood Group--Waldner Type
2
Blood Group--Wright Antigen
2
Bloom Syndrome
9
Body Mass Index Quantitative Trait Locus 12
5
Body Mass Index Quantitative Trait Locus 4
2
Body Mass Index Quantitative Trait Locus 9
1
Bohring-Opitz Syndrome
7
Bone Fragility With Contractures, Arterial Rupture, And Deafness
5
Bone Marrow Failure Syndrome 1
8
Bone Marrow Failure Syndrome 2
3
Bone Marrow Failure Syndrome 3
8
Bone marrow failure syndrome 4
2
Bone marrow failure syndrome 5
4
Bone Mineral Density QTL18, Osteoporosis
6
Bone Mineral Density Quantitative Trait Locus 1
5
Boomerang Dysplasia
5
Borjeson-Forssman-Lehmann Syndrome
11
Bosch-Boonstra-Schaaf optic atrophy syndrome
6
Bosma arhinia microphthalmia syndrome
5
Bothnia Retinal Dystrophy
7
Boucher-Neuhauser syndrome
4
Boudin-Mortier syndrome
1
Bowen-Conradi Syndrome
3
Brachycephaly, trichomegaly, and developmental delay
1
Brachydactyly Type A1
6
Brachydactyly Type A2
9
Brachydactyly Type C
7
Brachydactyly, type A1, C
6
Brachydactyly, Type A1, D
4
Brachydactyly, Type B1
7
Brachydactyly, Type B2
7
Brachydactyly, Type D
8
Brachydactyly, Type E1
8
Brachydactyly, Type E2
3
Brachydactyly-Syndactyly Syndrome
8
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes
6
Brachyolmia Type 3
5
Brain abnormalities, neurodegeneration, and dysosteosclerosis
6
Brain malformations with or without urinary tract defects
4
Brain small vessel disease 3
6
Brain Small Vessel Disease With Hemorrhage
3
Branched-chain ketoacid dehydrogenase kinase deficiency
5
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
2
Branchiooculofacial Syndrome
8
Branchiootic syndrome 1
9
Branchiootic Syndrome 3
7
Branchiootorenal Syndrome 1, with or without Cataracts
10
Branchiootorenal Syndrome 2
7
Breast-Ovarian Cancer, Familial 1
17
Breast-Ovarian Cancer, Familial 2
21
Breast-Ovarian Cancer, Familial 3
13
Breast-Ovarian Cancer, Familial 4
10
Brittle Cornea Syndrome 1
7
Brittle Cornea Syndrome 2
8
Brody Myopathy
2
Bronchiectasis
7
Bronchiectasis With Or Without Elevated Sweat Chloride 2
2
Bronchiectasis With Or Without Elevated Sweat Chloride 3
2
Brown-Vialetto-Van Laere Syndrome
9
Brown-Vialetto-Van Laere syndrome 2
13
Bruck syndrome 1
2
Bruck Syndrome 2
7
Brugada Syndrome 1
8
Brugada Syndrome 2
8
Brugada Syndrome 3
13
Brugada Syndrome 4
9
Brugada Syndrome 5
9
Brugada Syndrome 6
7
Brugada Syndrome 7
7
Brugada Syndrome 8
10
Brugada Syndrome 9
8
Bryant-Li-Bhoj neurodevelopmental syndrome 1
2
Bryant-Li-Bhoj neurodevelopmental syndrome 2
2
Budd-Chiari Syndrome
4
Bulbo-Spinal Atrophy X-Linked
3
Burn-McKeown Syndrome
2
Butyrylcholinesterase Deficiency
1
C Syndrome
1
C1q Deficiency
2
Caffey Disease
10
Calcification Of Joints And Arteries
2
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia
3
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome
3
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
15
Camptomelic Dysplasia
13
Camptosynpolydactyly, Complex
7
Camurati-Engelmann Disease
8
Candidiasis, Familial, 2
3
Candidiasis, Familial, 4
2
Candidiasis, Familial, 5
2
Candidiasis, Familial, 6
2
Candidiasis, Familial, 7
5
Candidiasis, familial, 8
1
Candidiasis, familial, 9
2
Capillary Malformation-Arteriovenous Malformation
3
Capillary malformation-arteriovenous malformation 2
3
Capillary malformations, congenital, 1, somatic, mosaic
1
CAPOS syndrome
11
CARASIL Syndrome
10
Carbohydrate-Deficient Glycoprotein Syndrome Type II
4
Carcinoid Tumors, Intestinal
4
Cardiac Conduction Disease with or without Dilated Cardiomyopathy
6
Cardiac valvular defect, developmental
3
Cardiac Valvular Dysplasia, X-Linked
17
Cardiac, facial, and digital anomalies with developmental delay
3
Cardiac-urogenital syndrome
6
Cardio-Facio-Cutaneous Syndrome
10
Cardioacrofacial dysplasia 1
1
Cardioacrofacial dysplasia 2
1
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1
14
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2
9
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3
4
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 4
4
Cardiofaciocutaneous syndrome 2
14
Cardiofaciocutaneous syndrome 3
9
Cardiofaciocutaneous syndrome 4
8
Cardiomyopathy Dilated With Woolly Hair And Keratoderma
8
Cardiomyopathy, Dilated, 1gg
7
Cardiomyopathy, Dilated, 1Hh
7
Cardiomyopathy, dilated, 1II
6
Cardiomyopathy, dilated, 1JJ
5
Cardiomyopathy, Dilated, 1KK
8
Cardiomyopathy, dilated, 1NN
4
Cardiomyopathy, Dilated, 1U
3
Cardiomyopathy, Dilated, 1V
3
Cardiomyopathy, Dilated, 2B
4
Cardiomyopathy, dilated, 2C
6
Cardiomyopathy, dilated, 2E
1
Cardiomyopathy, dilated, 2G
3
Cardiomyopathy, Dilated, 3B
9
Cardiomyopathy, familial hypertrophic
3
Cardiomyopathy, familial hypertrophic 27
6
Cardiomyopathy, Familial Hypertrophic, 17
7
Cardiomyopathy, Familial Hypertrophic, 19
1
Cardiomyopathy, familial hypertrophic, 28
4
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
3
Cardiomyopathy, familial restrictive 5
8
Cardiomyopathy, Familial Restrictive, 1
4
Cardiomyopathy, Familial Restrictive, 3
4
Cardiospondylocarpofacial Syndrome
2
Carey-Fineman-Ziter syndrome
1
Carney Complex Variant
4
Carney Complex, Type 1
7
Carnitine Palmitoyltransferase I Deficiency
9
Carnitine Palmitoyltransferase II Deficiency, Infantile
14
Carnitine Palmitoyltransferase II Deficiency, Late-Onset
14
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
14
Carnitine-Acylcarnitine Translocase Deficiency
10
Carotid Intimal Medial Thickness 1
1
Carpal Tunnel Syndrome
6
Carpal tunnel syndrome 2
1
Carpenter Syndrome
6
Carpenter Syndrome 2
4
Caspase-8 Deficiency
4
Cataract 10
5
Cataract 11
7
Cataract 12
4
Cataract 13
4
Cataract 14
5
Cataract 15
5
Cataract 16
6
Cataract 17
5
Cataract 18
4
Cataract 19
5
Cataract 2
5
Cataract 20
4
Cataract 21
9
Cataract 22
5
Cataract 23
6
Cataract 3
5
Cataract 30
4
Cataract 31
5
Cataract 33
5
Cataract 34, multiple types
9
Cataract 36
4
Cataract 38
11
Cataract 39
5
Cataract 4
4
Cataract 41
8
Cataract 42
2
Cataract 43
2
Cataract 44
3
Cataract 45
3
Cataract 46, juvenile-onset
1
Cataract 47
4
Cataract 5
4
Cataract 50 with or without glaucoma
1
Cataract 6
5
Cataract 9
5
Cataract, Congenital, X-Linked
10
Cataract, Zonular Pulverulent 1
6
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia
6
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
1
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
1
Cataracts, spastic paraparesis, and speech delay
3
Catecholaminergic Polymorphic Ventricular Tachycardia, 1
10
Catecholaminergic Polymorphic Ventricular Tachycardia, 4
7
Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness
7
Catel-Manzke Syndrome
4
CATSPER-Related Male Infertility
4
Caudal Duplication Anomaly
1
Cd59 Deficiency
5
Cd8 Deficiency, Familial
2
CEBALID syndrome
2
Celiac Disease 3
3
Central areolar choroidal dystrophy 1
2
Central Core Disease
7
Central hypoventilation syndrome, congenital, 3
1
Central Precocious Puberty
1
Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency
6
Centronuclear myopathy 5
3
Centronuclear myopathy 6 with fiber-type disproportion
3
Cerebellar ataxia and hypogonadotropic hypogonadism
2
Cerebellar Ataxia, Cayman Type
1
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
4
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
3
Cerebellar ataxia, nonprogressive, with mental retardation
2
Cerebellar atrophy with seizures and variable developmental delay
3
Cerebellar atrophy, developmental delay, and seizures
6
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation
7
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
1
Cerebellar, ocular, craniofacial, and genital syndrome
3
Cerebral Amyloid Angiopathy, App-Related
4
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2
9
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
10
Cerebral Cavernous Malformations 1
7
Cerebral Cavernous Malformations 2
7
Cerebral Cavernous Malformations 3
4
Cerebral cavernous malformations 4, somatic
1
Cerebral Creatine Deficiency Syndrome 1
6
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
3
Cerebral Folate Deficiency
10
Cerebral Palsy, Spastic Quadriplegic, 1
5
Cerebral Palsy, Spastic Quadriplegic, 2
4
Cerebral palsy, spastic quadriplegic, 3
2
Cerebro-Oculo-Facio-Skeletal Syndrome
8
Cerebrocostomandibular syndrome
1
Cerebrooculofacioskeletal Syndrome 2
9
Cerebrooculofacioskeletal syndrome 3
8
Cerebrooculofacioskeletal Syndrome 4
7
Cerebroretinal Microangiopathy with Calcifications and Cysts
13
Cerebroretinal microangiopathy with calcifications and cysts 2
6
Cerebroretinal microangiopathy with calcifications and cysts 3
1
Cerebrotendinous Xanthomatosis
17
Ceroid Lipofuscinosis Neuronal 1
12
Ceroid Lipofuscinosis Neuronal 10
10
Ceroid Lipofuscinosis Neuronal 11
10
Ceroid Lipofuscinosis Neuronal 12
10
Ceroid Lipofuscinosis Neuronal 13
8
Ceroid Lipofuscinosis Neuronal 14
10
Ceroid Lipofuscinosis Neuronal 2
12
Ceroid Lipofuscinosis Neuronal 3
10
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive
8
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant
9
Ceroid Lipofuscinosis Neuronal 5
9
Ceroid Lipofuscinosis Neuronal 6
9
Ceroid Lipofuscinosis Neuronal 7
11
Ceroid Lipofuscinosis Neuronal 8
10
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant
9
Cervical Cancer
9
Chanarin-Dorfman Syndrome
7
CHAND syndrome
4
Char Syndrome
6
Charcot-Marie-Tooth Disease Dominant Intermediate 3
5
Charcot-Marie-Tooth Disease Type 2B
6
Charcot-Marie-Tooth Disease Type 2B1
12
Charcot-Marie-Tooth Disease Type 2B2
6
Charcot-Marie-Tooth Disease Type 2C
11
Charcot-Marie-Tooth Disease Type 2D
8
Charcot-Marie-Tooth Disease Type 2E
6
Charcot-Marie-Tooth Disease Type 2F
7
Charcot-Marie-Tooth Disease Type 2I
6
Charcot-Marie-Tooth Disease Type 2J
6
Charcot-Marie-Tooth Disease Type 2K
5
Charcot-Marie-Tooth disease, axonal, type 2A2B
7
Charcot-Marie-Tooth disease, axonal, type 2CC
3
Charcot-Marie-Tooth disease, axonal, type 2DD
5
Charcot-Marie-Tooth disease, axonal, type 2EE
8
Charcot-Marie-Tooth disease, axonal, type 2FF
1
Charcot-Marie-Tooth disease, axonal, type 2GG
1
Charcot-Marie-Tooth disease, axonal, type 2HH
3
Charcot-Marie-Tooth disease, axonal, type 2II
2
Charcot-Marie-Tooth Disease, Axonal, Type 2O
12
Charcot-Marie-Tooth disease, axonal, type 2T
3
Charcot-Marie-Tooth disease, axonal, type 2V
6
Charcot-Marie-Tooth disease, axonal, type 2W
6
Charcot-Marie-Tooth disease, axonal, type 2X
7
Charcot-Marie-Tooth disease, axonal, type 2Z
5
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
5
Charcot-Marie-Tooth disease, demyelinating, type 1G
2
Charcot-Marie-Tooth disease, demyelinating, type 1H
1
Charcot-Marie-Tooth disease, demyelinating, type 1I
2
Charcot-Marie-Tooth disease, demyelinating, type 1J
1
Charcot-Marie-Tooth Disease, Dominant Intermediate B
8
Charcot-Marie-Tooth Disease, Dominant Intermediate C
6
Charcot-Marie-Tooth Disease, Dominant Intermediate E
5
Charcot-Marie-Tooth Disease, Dominant Intermediate F
6
Charcot-Marie-Tooth disease, dominant intermediate G
1
Charcot-Marie-Tooth Disease, Recessive Intermediate A
5
Charcot-Marie-Tooth Disease, Recessive Intermediate B
10
Charcot-Marie-Tooth Disease, Recessive Intermediate C
5
Charcot-Marie-Tooth Disease, Recessive Intermediate D
6
Charcot-Marie-Tooth Disease, Type 1A
5
Charcot-Marie-Tooth Disease, Type 1D
4
Charcot-Marie-Tooth Disease, Type 1E
5
Charcot-Marie-Tooth Disease, Type 1F
6
Charcot-Marie-Tooth Disease, Type 2A1
4
Charcot-Marie-Tooth Disease, Type 2A2
12
Charcot-Marie-Tooth Disease, Type 2L
8
Charcot-Marie-Tooth Disease, Type 2N
9
Charcot-Marie-Tooth Disease, Type 2Q
6
Charcot-Marie-Tooth Disease, Type 2R
5
Charcot-Marie-Tooth Disease, Type 2S
5
Charcot-Marie-Tooth Disease, Type 2T
1
Charcot-Marie-Tooth Disease, Type 2U
7
Charcot-Marie-Tooth Disease, Type 2Y
8
Charcot-Marie-Tooth Disease, Type 3
8
Charcot-Marie-Tooth Disease, Type 4A
5
Charcot-Marie-Tooth Disease, Type 4B1
8
Charcot-Marie-Tooth Disease, Type 4B2
12
Charcot-Marie-Tooth Disease, Type 4B3
10
Charcot-Marie-Tooth Disease, Type 4C
7
Charcot-Marie-Tooth Disease, Type 4D
6
Charcot-Marie-Tooth Disease, Type 4E
6
Charcot-Marie-Tooth Disease, Type 4F
8
Charcot-Marie-Tooth Disease, Type 4H
5
Charcot-Marie-Tooth Disease, Type 4J
15
Charcot-Marie-Tooth Disease, Type 4K
7
Charcot-Marie-Tooth Disease, Type Ib
6
Charcot-Marie-Tooth Disease, Type IC
4
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
5
Charcot-Marie-Tooth Disease, X-linked Dominant, 6
7
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
11
Charcot-Marie-Toothe Disease, Type 2P
4
CHARGE Association
26
Chediak-Higashi Syndrome
16
Cherubism
5
Chilblain lupus 2
5
Chilblain Lupus Erythematosus
7
Child Syndrome
9
Childhood Hypophosphatasia
11
Chilton-Okur-Chung neurodevelopmental syndrome
1
CHIME syndrome
5
Chitayat Syndrome
4
CHMP2B-Related Frontotemporal Dementia
6
Choanal Atresia And Lymphedema
2
Cholecystitis
4
Cholestasis Of Pregnancy
4
Cholestasis, intrahepatic, of pregnancy, 3
4
Cholestasis, Progressive Familial Intrahepatic 2
5
Cholestasis, Progressive Familial Intrahepatic 3
6
Cholestasis, Progressive Familial Intrahepatic 4
4
Cholestasis, progressive familial intrahepatic, 5
3
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency
7
Chondrocalcinosis 2
3
Chondrodysplasia Acromesomelic With Genital Anomalies
4
Chondrodysplasia Blomstrand Type
3
Chondrodysplasia Punctata 1, X-Linked Recessive
4
Chondrodysplasia Punctata 2 X-Linked Dominant
11
Chondrodysplasia with Joint Dislocations, Gpapp Type
4
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia
3
Chondrosarcoma
2
Chopra-Amiel-Gordon syndrome
1
CHOPS Syndrome
6
Chorea, childhood-onset, with psychomotor retardation
1
Choreoacanthocytosis
3
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
6
Choroid Plexus Papilloma
9
Choroidal Dystrophy, Central Areolar 2
5
Choroideremia
8
Chromosome 9Q Deletion Syndrome
8
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome
7
Chronic granulomatous disease 5, autosomal recessive
2
Chronic Infantile Neurological, Cutaneous And Articular Syndrome
10
Chronic Myeloid Leukemia
1
Chronic Obstructive Pulmonary Disease
4
Chudley-McCullough syndrome
6
Chylomicron Retention Disease
4
Ciliary Dyskinesia, Primary, 1
13
Ciliary Dyskinesia, Primary, 10
10
Ciliary Dyskinesia, Primary, 11
8
Ciliary Dyskinesia, Primary, 12
8
Ciliary Dyskinesia, Primary, 13
10
Ciliary Dyskinesia, Primary, 14
10
Ciliary Dyskinesia, Primary, 15
10
Ciliary Dyskinesia, Primary, 16
9
Ciliary Dyskinesia, Primary, 17
9
Ciliary Dyskinesia, Primary, 18
9
Ciliary Dyskinesia, Primary, 19
8
Ciliary Dyskinesia, Primary, 2
10
Ciliary Dyskinesia, Primary, 20
9
Ciliary Dyskinesia, Primary, 21
7
Ciliary Dyskinesia, Primary, 22
9
Ciliary Dyskinesia, Primary, 23
7
Ciliary Dyskinesia, Primary, 24
7
Ciliary Dyskinesia, Primary, 25
7
Ciliary Dyskinesia, Primary, 26
9
Ciliary Dyskinesia, Primary, 27
7
Ciliary Dyskinesia, Primary, 28
8
Ciliary Dyskinesia, primary, 29
7
Ciliary Dyskinesia, Primary, 3
9
Ciliary Dyskinesia, Primary, 30
8
Ciliary Dyskinesia, Primary, 32
7
Ciliary Dyskinesia, Primary, 33
8
Ciliary Dyskinesia, Primary, 34
7
Ciliary Dyskinesia, Primary, 35
8
Ciliary Dyskinesia, Primary, 36
5
Ciliary Dyskinesia, Primary, 37
9
Ciliary dyskinesia, primary, 38
9
Ciliary dyskinesia, primary, 39
8
Ciliary dyskinesia, primary, 40
9
Ciliary dyskinesia, primary, 41
7
Ciliary dyskinesia, primary, 42
8
Ciliary dyskinesia, primary, 43
9
Ciliary dyskinesia, primary, 45
8
Ciliary dyskinesia, primary, 46
5
Ciliary dyskinesia, primary, 5
5
Ciliary Dyskinesia, Primary, 6
9
Ciliary Dyskinesia, Primary, 7
10
Ciliary Dyskinesia, Primary, 9
9
CIMDAG syndrome
2
Citrin Deficiency
10
Citrullinemia Type I
7
Citrullinemia Type II
10
CK syndrome
8
CLAPO syndrome, somatic
8
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
4
Cleft Palate X-Linked
3
Cleft palate, cardiac defects, and mental retardation
9
Cleft palate, proliferative retinopathy, and developmental delay
1
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
7
Cleidocranial Dysostosis
2
CLOVE syndrome, somatic
9
COACH Syndrome
15
COACH syndrome 2
8
COACH syndrome 3
5
Cockayne Syndrome Type I
9
Cockayne Syndrome, Type B
8
Cocoon Syndrome
5
CODAS syndrome
7
Coenzyme Q10 Deficiency
13
Coenzyme Q10 Deficiency, Primary, 2
9
Coenzyme Q10 deficiency, primary, 3
10
Coenzyme Q10 Deficiency, Primary, 4
8
Coenzyme Q10 Deficiency, Primary, 5
10
Coenzyme Q10 deficiency, primary, 6
9
Coenzyme Q10 Deficiency, Primary, 7
8
Coenzyme Q10 Deficiency, Primary, 8
4
Coenzyme Q10 deficiency, primary, 9
3
Coffin-Lowry Syndrome
4
Coffin-Siris Syndrome 1
11
Coffin-Siris syndrome 10
2
Coffin-Siris Syndrome 2
10
Coffin-Siris Syndrome 3
9
Coffin-Siris Syndrome 4
13
Coffin-Siris Syndrome 5
9
Coffin-Siris syndrome 6
4
Coffin-Siris syndrome 7
5
Coffin-Siris syndrome 8
4
Cognitive Impairment With Or Without Cerebellar Ataxia
7
Cohen Syndrome
17
Cohen-Gibson syndrome
2
Colchicine resistance
1
Cold-Induced Sweating Syndrome 1
2
Cold-Induced Sweating Syndrome 3
3
Cole Disease
7
Cole-Carpenter Syndrome 1
3
Cole-Carpenter Syndrome 2
9
Coloboma Of Optic Disc
9
Coloboma, Ocular
11
Coloboma, ocular, autosomal recessive
2
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
2
Colorectal Cancer 1
2
Colorectal cancer, susceptibility to, 10
11
Colorectal cancer, susceptibility to, 12
9
Combined Cellular And Humoral Immune Defects With Granulomas
5
Combined D-2- and L-2-HydroxyGlutaric Aciduria
9
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
4
Combined Immunodeficiency, X-Linked
5
Combined low LDL and fibrinogen
1
Combined Malonic And Methylmalonic Aciduria
7
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
5
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
4
Combined Oxidative Phosphorylation Deficiency 1
8
Combined Oxidative Phosphorylation Deficiency 10
11
Combined Oxidative Phosphorylation Deficiency 11
3
Combined Oxidative Phosphorylation Deficiency 12
7
Combined Oxidative Phosphorylation Deficiency 13
6
Combined oxidative phosphorylation deficiency 14
9
Combined Oxidative Phosphorylation Deficiency 15
8
Combined Oxidative Phosphorylation Deficiency 16
2
Combined Oxidative Phosphorylation Deficiency 17
7
Combined Oxidative Phosphorylation Deficiency 18
4
Combined Oxidative Phosphorylation Deficiency 19
2
Combined Oxidative Phosphorylation Deficiency 2
2
Combined Oxidative Phosphorylation Deficiency 20
6
Combined Oxidative Phosphorylation Deficiency 21
2
Combined Oxidative Phosphorylation Deficiency 22
4
Combined Oxidative Phosphorylation Deficiency 23
4
Combined Oxidative Phosphorylation Deficiency 24
7
Combined Oxidative Phosphorylation Deficiency 25
4
Combined Oxidative Phosphorylation Deficiency 26
4
Combined Oxidative Phosphorylation Deficiency 27
5
Combined oxidative phosphorylation deficiency 28
2
Combined oxidative phosphorylation deficiency 29
3
Combined Oxidative Phosphorylation Deficiency 3
10
Combined Oxidative Phosphorylation Deficiency 30
3
Combined oxidative phosphorylation deficiency 31
5
Combined oxidative phosphorylation deficiency 32
3
Combined oxidative phosphorylation deficiency 33
6
Combined Oxidative Phosphorylation Deficiency 34
3
Combined Oxidative Phosphorylation Deficiency 35
3
Combined oxidative phosphorylation deficiency 36
4
Combined oxidative phosphorylation deficiency 37
3
Combined oxidative phosphorylation deficiency 38
2
Combined oxidative phosphorylation deficiency 39
4
Combined Oxidative Phosphorylation Deficiency 4
3
Combined oxidative phosphorylation deficiency 40
2
Combined oxidative phosphorylation deficiency 41
3
Combined oxidative phosphorylation deficiency 42
2
Combined oxidative phosphorylation deficiency 43
2
Combined oxidative phosphorylation deficiency 44
4
Combined oxidative phosphorylation deficiency 45
1
Combined oxidative phosphorylation deficiency 47
2
Combined oxidative phosphorylation deficiency 48
1
Combined Oxidative Phosphorylation Deficiency 5
6
Combined oxidative phosphorylation deficiency 50
1
Combined oxidative phosphorylation deficiency 51
2
Combined oxidative phosphorylation deficiency 52
1
Combined oxidative phosphorylation deficiency 53
4
Combined oxidative phosphorylation deficiency 56
2
Combined oxidative phosphorylation deficiency 58
2
Combined Oxidative Phosphorylation Deficiency 6
10
Combined Oxidative Phosphorylation Deficiency 7
9
Combined Oxidative Phosphorylation Deficiency 8
6
Combined Oxidative Phosphorylation Deficiency 9
3
Combined oxidative phosphorylation defiency 46
2
Combined Saposin Deficiency
7
COMMAD syndrome
5
Common Variable Agammaglobulinemia
5
Complement Component 2 Deficiency
3
Complement Component 3 Deficiency, Autosomal Recessive
4
Complement Component 4, Partial Deficiency Of
3
Complement Component 6 Deficiency
2
Complement Component 7 Deficiency
2
Complement Component 8 Deficiency Type 1
2
Complement Component 8 Deficiency Type 2
2
Complement Component 9 Deficiency
2
Complement Component c1s Deficiency
4
Complement factor B deficiency
4
Complement Factor D Deficiency
2
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
3
Complete Trisomy 21 Syndrome
6
Cone Dystrophy 3
4
Cone Dystrophy 4
6
Cone-Rod Dystrophy 10
4
Cone-Rod Dystrophy 11
4
Cone-Rod Dystrophy 12
5
Cone-Rod Dystrophy 13
8
Cone-rod dystrophy 14
3
Cone-Rod Dystrophy 15
7
Cone-rod dystrophy 16
15
Cone-Rod Dystrophy 18
4
Cone-Rod Dystrophy 19
3
Cone-Rod Dystrophy 2
7
Cone-Rod Dystrophy 20
5
Cone-Rod Dystrophy 21
4
Cone-Rod Dystrophy 3
6
Cone-Rod Dystrophy 5
7
Cone-Rod Dystrophy 6
7
Cone-Rod Dystrophy 7
5
Cone-Rod Dystrophy 9
5
Cone-Rod Dystrophy and Hearing Loss
3
Cone-rod dystrophy and hearing loss 2
2
Cone-Rod Dystrophy X-Linked 3
7
Cone-Rod Dystrophy, X-Linked, 1
10
Congenital Amegakaryocytic Thrombocytopenia
7
Congenital Aniridia
12
Congenital Anomalies of Kidney and Urinary Tract 2
2
Congenital anomalies of kidney and urinary tract 3
3
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay
5
Congenital Anomalies of Kidney and Urinary Tract, Susceptibility to
7
Congenital Bilateral Absence Of The Vas Deferens
8
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
10
Congenital Cataracts, Hearing Loss, and Neurodegeneration
10
Congenital Central Hypoventilation syndrome
20
Congenital Contractural Arachnodactyly
10
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
9
Congenital Cystic Disease Of Liver
6
Congenital Disorder of Deglycosylation
6
Congenital Disorder Of Glycosylation Type 1A
14
Congenital Disorder Of Glycosylation Type 1B
5
Congenital Disorder Of Glycosylation Type 1C
9
Congenital Disorder Of Glycosylation Type 1D
6
Congenital Disorder Of Glycosylation Type 1E
12
Congenital Disorder Of Glycosylation Type 1F
7
Congenital Disorder Of Glycosylation Type 1G
7
Congenital Disorder Of Glycosylation Type 1H
10
Congenital Disorder Of Glycosylation Type 1I
9
Congenital Disorder Of Glycosylation Type 1J
6
Congenital Disorder Of Glycosylation Type 1K
6
Congenital Disorder Of Glycosylation Type 1L
9
Congenital Disorder Of Glycosylation Type 1M
8
Congenital Disorder Of Glycosylation Type 1O
8
Congenital Disorder Of Glycosylation Type 1P
4
Congenital Disorder Of Glycosylation Type 1Q
5
Congenital Disorder Of Glycosylation Type 2C
7
Congenital Disorder Of Glycosylation Type 2D
3
Congenital Disorder Of Glycosylation Type 2E
4
Congenital Disorder Of Glycosylation Type 2F
5
Congenital Disorder Of Glycosylation Type 2G
3
Congenital Disorder Of Glycosylation Type 2I
5
Congenital Disorder Of Glycosylation Type IIb
7
Congenital Disorder Of Glycosylation Type IIh
3
Congenital Disorder Of Glycosylation Type IIj
7
Congenital Disorder of Glycosylation Type IIk
4
Congenital Disorder of Glycosylation Type IIl
7
Congenital Disorder of Glycosylation Type IIm
8
Congenital Disorder of Glycosylation Type IIn
3
Congenital Disorder of Glycosylation Type IIo
3
Congenital Disorder of Glycosylation Type IIp
2
Congenital Disorder of Glycosylation Type IIq
3
Congenital Disorder Of Glycosylation Type In
4
Congenital Disorder of Glycosylation Type Ir
2
Congenital Disorder of Glycosylation Type It
9
Congenital Disorder of Glycosylation Type Iu
9
Congenital Disorder of Glycosylation Type Iw
3
Congenital Disorder of Glycosylation Type Ix
3
Congenital Disorder of Glycosylation Type Iy
5
Congenital disorder of glycosylation with defective fucosylation 1
4
Congenital disorder of glycosylation with defective fucosylation 2
2
Congenital disorder of glycosylation, type 1aa
4
Congenital disorder of glycosylation, type Icc
4
Congenital disorder of glycosylation, type IIr
4
Congenital disorder of glycosylation, type IIt
2
Congenital disorder of glycosylation, type IIw
2
Congenital disorder of glycosylation, type Iw, autosomal dominant
1
Congenital Fiber Type Disproportion
9
Congenital Generalized Lipodystrophy Type 1
4
Congenital Generalized Lipodystrophy Type 2
9
Congenital Glucose-Galactose Malabsorption
5
Congenital heart defects and ectodermal dysplasia
1
Congenital heart defects and skeletal malformations syndrome
3
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
5
Congenital heart defects, hamartomas of tongue, and polysyndactyly
7
Congenital heart defects, multiple types, 4
5
Congenital heart defects, multiple types, 5
4
Congenital heart defects, multiple types, 7
1
Congenital heart defects, multiple types, 8, with or without heterotaxy
1
Congenital heart defects, nonsyndromic, 2
3
Congenital Human Immunodeficiency Virus
4
Congenital Hyperammonemia, Type I
10
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
2
Congenital Ichthyosis Of Skin
3
Congenital Lactase Deficiency
5
Congenital Microvillous Atrophy
6
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5
13
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B
12
Congenital Myasthenic Syndrome - RAPSN
4
Congenital Myasthenic Syndrome, Acetazolamide-Responsive
5
Congenital myopathy 10B, mild variant
1
Congenital myopathy 11
1
Congenital myopathy 14
1
Congenital myopathy 15
1
Congenital myopathy 20
1
Congenital myopathy 21 with early respiratory failure
1
Congenital myopathy 22A, classic
1
Congenital myopathy 22B, severe fetal
1
Congenital Myotonia, Autosomal Dominant Form
3
Congenital Secretory Diarrhea, Chloride Type
4
Congenital Secretory Diarrhea, Sodium Type
6
Congenital short bowel syndrome
1
Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic
2
Congenital Stromal Corneal Dystrophy
3
Conotruncal Heart Malformations
19
Contractures, pterygia, and variable skeletal fusions syndrome 1B
6
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis
10
Cornea Plana 2
3
Corneal Dystrophy And Perceptive Deafness
1
Corneal Dystrophy Fuchs Endothelial 1
4
Corneal dystrophy, Fuchs endothelial, 3
7
Corneal Dystrophy, Fuchs Endothelial, 4
1
Corneal Dystrophy, Fuchs Endothelial, 6
4
Corneal Dystrophy, Fuchs Endothelial, 8
3
Corneal Dystrophy, Posterior Polymorphous, 2
4
Corneal Dystrophy, Posterior Polymorphous, 3
3
Corneal dystrophy, posterior polymorphous, 4
7
Corneal Endothelial Dystrophy Type 2
2
Corneal Epithelial Dystrophy
2
Corneal Opacification and Other Ocular Anomalies
7
Cornelia de Lange syndrome 1
16
Cornelia de Lange syndrome 2
18
Cornelia de Lange syndrome 3
13
Cornelia de Lange syndrome 4
14
Cornelia de Lange syndrome 5
12
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
1
Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia
2
Corpus Callosum, Partial Agenesis Of, X-Linked
6
Cortical Dysplasia, Complex, With Other Brain Malformations
10
Cortical dysplasia, complex, with other brain malformations 10
4
Cortical dysplasia, complex, with other brain malformations 12
1
Cortical dysplasia, complex, with other brain malformations 2
7
Cortical dysplasia, complex, with other brain malformations 3
7
Cortical Dysplasia, Complex, with other Brain Malformations 4
7
Cortical Dysplasia, Complex, with other Brain Malformations 5
5
Cortical dysplasia, complex, with other brain malformations 6
5
Cortical dysplasia, complex, with other brain malformations 9
4
Cortical Dysplasia-Focal Epilepsy Syndrome
9
Cortical Malformations, Occipital
3
Corticosterone Methyloxidase Type II Deficiency
2
Cortisone reductase deficiency 2
1
Costello Syndrome
14
Coumarin Resistance
1
Cousin Syndrome
8
Cowchock Syndrome
10
Cowden Disease
25
Cowden syndrome 3
3
Cowden syndrome 5
13
Cowden syndrome 6
3
Cowden syndrome 7
5
Cowden-Like Syndrome
2
Craniodiaphyseal Dysplasia, Autosomal Dominant
2
Cranioectodermal Dysplasia
9
Cranioectodermal Dysplasia 2
11
Cranioectodermal Dysplasia 3
6
Cranioectodermal Dysplasia 4
7
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
4
Craniofacial Deafness Hand Syndrome
7
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
1
Craniofrontonasal Dysplasia
10
Craniolenticulosutural Dysplasia
3
Craniometaphyseal Dysplasia, Autosomal Dominant
3
Craniometaphyseal dysplasia, autosomal recessive
11
Craniosynostosis 3
7
Craniosynostosis 4
4
Craniosynostosis 5, Susceptibility to
4
Craniosynostosis 6
2
Craniosynostosis 7, susceptibility to
1
Craniosynostosis And Dental Anomalies
3
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
1
Craniosynostosis, Type 1
10
Craniosynostosis, Type 2
5
Creatine Phosphokinase, Elevated Serum
3
Crigler-Najjar Syndrome, Type I
4
Crigler-Najjar Syndrome, Type II
4
Crouzon Syndrome
14
Crouzon Syndrome With Acanthosis Nigricans
13
Cryohydrocytosis
2
Cryptophthalmos, unilateral or bilateral, isolated
8
Cryptorchidism, Unilateral Or Bilateral
3
Culler-Jones Syndrome
13
Currarino Syndrome
5
Curry-Jones syndrome, somatic mosaic
4
Cushing syndrome, ACTH-independent adrenal, somatic
1
Cushing's Symphalangism
7
Cutaneous Malignant Melanoma 1
4
Cutaneous Telangiectasia and Cancer Syndrome, Familial
6
Cutis Gyrata Syndrome Of Beare And Stevenson
10
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
6
Cutis Laxa, Autosomal Dominant
8
Cutis Laxa, Autosomal Dominant 2
9
Cutis Laxa, Autosomal Dominant 3
10
Cutis Laxa, Autosomal Recessive, Type IA
10
Cutis Laxa, Autosomal Recessive, Type IB
9
Cutis Laxa, Autosomal Recessive, Type IIA
11
Cutis Laxa, Autosomal Recessive, Type IIB
7
Cutis Laxa, Autosomal Recessive, Type IIC
4
Cutis Laxa, Autosomal Recessive, Type IID
6
Cutis Laxa, Autosomal Recessive, Type IIIB
6
Cyclical Neutropenia
7
Cylindromatosis, Familial
1
Cystathioninuria
2
Cystic Fibrosis
13
Cystinosis
5
Cystinosis, Ocular Nonnephropathic
5
Cystinuria
6
Czech Dysplasia Metatarsal Type
15
D-2-Alpha Hydroxyglutaric Aciduria
8
D-2-Hydroxyglutaric Aciduria 2
7
D-Bifunctional Protein Deficiency
8
D-lactic aciduria with susceptibility to gout
1
Danon Disease
13
De Sanctis-Cacchione Syndrome
6
Deafness , autosomal recessive 86
8
Deafness and myopia
2
Deafness autosomal recessive 106
1
Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm)
3
Deafness, Aminoglycoside-Induced
3
Deafness, Autosomal Dominant 1
7
Deafness, Autosomal Dominant 10
5
Deafness, Autosomal Dominant 11
3
Deafness, Autosomal Dominant 12
3
Deafness, Autosomal Dominant 13
9
Deafness, Autosomal Dominant 15
2
Deafness, Autosomal Dominant 17
8
Deafness, Autosomal Dominant 20
5
Deafness, Autosomal Dominant 22
7
Deafness, Autosomal Dominant 23
4
Deafness, Autosomal Dominant 25
2
Deafness, autosomal dominant 27
2
Deafness, Autosomal Dominant 28
5
Deafness, Autosomal Dominant 2A
3
Deafness, Autosomal Dominant 2B
4
Deafness, autosomal dominant 34, with or without inflammation
7
Deafness, Autosomal Dominant 36
3
Deafness, autosomal dominant 37
6
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
3
Deafness, Autosomal Dominant 3A
4
Deafness, Autosomal Dominant 3B
3
Deafness, Autosomal Dominant 4
5
Deafness, Autosomal Dominant 40
2
Deafness, autosomal dominant 41
1
Deafness, Autosomal Dominant 44
3
Deafness, Autosomal Dominant 4B
2
Deafness, Autosomal Dominant 5
1
Deafness, Autosomal Dominant 50
1
Deafness, Autosomal Dominant 51
1
Deafness, autosomal dominant 56
1
Deafness, Autosomal Dominant 6
9
Deafness, Autosomal Dominant 64
3
Deafness, autosomal dominant 65
8
Deafness, autosomal dominant 66
1
Deafness, autosomal dominant 67
1
Deafness, autosomal dominant 68
1
Deafness, Autosomal Dominant 69
3
Deafness, autosomal dominant 7
1
Deafness, autosomal dominant 70
1
Deafness, autosomal dominant 71
4
Deafness, autosomal dominant 72
1
Deafness, autosomal dominant 73
1
Deafness, autosomal dominant 74
1
Deafness, autosomal dominant 75
2
Deafness, autosomal dominant 76
1
Deafness, autosomal dominant 80
1
Deafness, autosomal dominant 81
1
Deafness, autosomal dominant 83
1
Deafness, Autosomal Dominant 9
3
Deafness, autosomal recessive 101
1
Deafness, autosomal recessive 102
1
Deafness, autosomal recessive 103
1
Deafness, autosomal recessive 104
1
Deafness, autosomal recessive 105
1
Deafness, autosomal recessive 107
1
Deafness, autosomal recessive 108
1
Deafness, autosomal recessive 110
1
Deafness, autosomal recessive 111
1
Deafness, autosomal recessive 112
1
Deafness, autosomal recessive 113
1
Deafness, autosomal recessive 114
1
Deafness, autosomal recessive 115
2
Deafness, autosomal recessive 116
1
Deafness, autosomal recessive 117
1
Deafness, autosomal recessive 119
2
Deafness, Autosomal Recessive 12
2
Deafness, autosomal recessive 122
1
Deafness, Autosomal Recessive 15
2
Deafness, Autosomal Recessive 16
3
Deafness, Autosomal Recessive 18
3
Deafness, autosomal recessive 18B
1
Deafness, Autosomal Recessive 1A
8
Deafness, Autosomal Recessive 1B
3
Deafness, Autosomal Recessive 2
3
Deafness, Autosomal Recessive 21
3
Deafness, Autosomal Recessive 22
2
Deafness, Autosomal Recessive 23
2
Deafness, Autosomal Recessive 24
2
Deafness, Autosomal Recessive 25
2
Deafness, Autosomal Recessive 28
4
Deafness, Autosomal Recessive 29
3
Deafness, Autosomal Recessive 3
3
Deafness, Autosomal Recessive 30
3
Deafness, Autosomal Recessive 31
4
Deafness, autosomal recessive 32, with or without immotile sperm
1
Deafness, Autosomal Recessive 35
3
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
2
Deafness, Autosomal Recessive 37
5
Deafness, Autosomal Recessive 39
3
Deafness, Autosomal Recessive 42
3
Deafness, autosomal recessive 44
1
Deafness, Autosomal Recessive 48
3
Deafness, Autosomal Recessive 49
2
Deafness, Autosomal Recessive 53
8
Deafness, autosomal recessive 57
3
Deafness, Autosomal Recessive 59
3
Deafness, Autosomal Recessive 6
2
Deafness, Autosomal Recessive 61
3
Deafness, Autosomal Recessive 63
2
Deafness, autosomal recessive 66
4
Deafness, Autosomal Recessive 67
4
Deafness, autosomal recessive 68
1
Deafness, Autosomal Recessive 7
3
Deafness, autosomal recessive 70
5
Deafness, Autosomal Recessive 74
2
Deafness, autosomal recessive 76
1
Deafness, Autosomal Recessive 77
3
Deafness, Autosomal Recessive 79
1
Deafness, Autosomal Recessive 8/10
2
Deafness, Autosomal Recessive 84
1
Deafness, autosomal recessive 84B
1
Deafness, autosomal recessive 88
1
Deafness, autosomal recessive 89
6
Deafness, Autosomal Recessive 9
3
Deafness, Autosomal Recessive 91
2
Deafness, autosomal recessive 93
1
Deafness, autosomal recessive 94
6
Deafness, autosomal recessive 97
1
Deafness, autosomal recessive 98
2
Deafness, autosomal recessive 99
1
Deafness, congenital heart defects, and posterior embryotoxon
11
Deafness, congenital, and adult-onset progressive leukoencephalopathy
3
Deafness, congenital, with onychodystrophy, autosomal dominant
1
Deafness, Dystonia, and Cerebral Hypomyelination
5
Deafness, X-Linked 1
7
Deafness, X-Linked 2
2
Deafness, X-Linked 4
4
Deafness, X-Linked 5
9
Deafness, X-linked 6
6
Deafness, X-linked 7
1
DEEAH syndrome
1
Deficiency Of (R)-20-Hydroxysteroid Dehydrogenase
1
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase
10
Deficiency Of Alpha-Mannosidase
9
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase
7
Deficiency Of Butyryl-CoA Dehydrogenase
9
Deficiency Of Galactokinase
7
Deficiency Of Glycerate Kinase
3
Deficiency Of Guanidinoacetate Methyltransferase
8
Deficiency Of Isobutyryl-CoA Dehydrogenase
3
Deficiency Of Pyrroline-5-Carboxylate Reductase
3
Deficiency Of Ribose-5-Phosphate Isomerase
3
Deficiency Of Steroid 17-Alpha-Monooxygenase
8
Deficiency Of Transaldolase
6
Dementia Familial British
5
Dementia, Familial Danish
5
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency
6
Dent Disease 1
9
Dent Disease 2
13
Dental Anomalies and Short Stature
7
Dentatorubral Pallidoluysian Atrophy
3
Dentici-Novelli neurodevelopmental syndrome
1
Denticles
4
Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth
1
Dentinogenesis Imperfecta - Shield's Type II
4
Dentinogenesis Imperfecta Shields Type 3
4
Dermatitis, Atopic, 2
1
Dermatofibrosarcoma protuberans
3
Dermatofibrosis Lenticularis Disseminata
1
Dermatopathia Pigmentosa Reticularis
3
Desanto-Shinawi syndrome
5
Desbuquois Dysplasia 2
5
Desbuquois Syndrome
7
Desmoid Disease, Hereditary
4
Desmosterolosis
11
Developmental and epileptic encephalopathy 100
1
Developmental and epileptic encephalopathy 101
1
Developmental and epileptic encephalopathy 102
1
Developmental and epileptic encephalopathy 103
2
Developmental and epileptic encephalopathy 104
1
Developmental and epileptic encephalopathy 105 with hypopituitarism
1
Developmental and epileptic encephalopathy 106
1
Developmental and epileptic encephalopathy 107
1
Developmental and epileptic encephalopathy 108
2
Developmental and epileptic encephalopathy 109
1
Developmental and epileptic encephalopathy 110
1
Developmental and epileptic encephalopathy 111
1
Developmental and epileptic encephalopathy 112
1
Developmental and epileptic encephalopathy 114
1
Developmental and epileptic encephalopathy 115
1
Developmental and epileptic encephalopathy 31B, autosomal recessive
1
Developmental and Epileptic Encephalopathy 4
10
Developmental and epileptic encephalopathy 6B, non-Dravet
4
Developmental and epileptic encephalopathy 79
1
Developmental and epileptic encephalopathy 84
2
Developmental and epileptic encephalopathy 86
1
Developmental and epileptic encephalopathy 87
2
Developmental and epileptic encephalopathy 89
3
Developmental and epileptic encephalopathy 90
2
Developmental and epileptic encephalopathy 96
1
Developmental and epileptic encephalopathy 97
1
Developmental and epileptic encephalopathy 98
4
Developmental and epileptic encephalopathy 99
6
Developmental Delay and Seizures with or without Movement Abnormalities
6
Developmental delay with dysmorphic facies and dental anomalies
2
Developmental delay with hypotonia, myopathy, and brain abnormalities
2
Developmental delay with or without dysmorphic facies and autism
2
Developmental delay with or without epilepsy
3
Developmental delay with or without intellectual impairment or behavioral abnormalities
1
Developmental delay with short stature, dysmorphic facial features, and sparse hair
1
Developmental delay with variable intellectual impairment and behavioral abnormalities
4
Developmental delay with variable neurologic and brain abnormalities
2
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
1
Developmental delay, dysmorphic facies, and brain anomalies
1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
2
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
3
Developmental delay, impaired speech, and behavioral abnormalities
2
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
1
Developmental delay, intellectual disability, obesity, and dysmorphic features
2
Diabetes Insipidus, Nephrogenic, Autosomal
5
Diabetes Insipidus, Nephrogenic, X-Linked
5
Diabetes Insipidus, Neurohypophyseal
3
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness
13
Diabetes Mellitus Type 1
6
Diabetes Mellitus, Insulin-Dependent, 10
4
Diabetes Mellitus, Insulin-Dependent, 12
3
Diabetes Mellitus, Insulin-Dependent, 2
4
Diabetes Mellitus, Insulin-Dependent, 20
4
Diabetes Mellitus, Ketosis-Prone
3
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
4
Diabetes Mellitus, Noninsulin-Dependent
31
Diabetes Mellitus, Noninsulin-Dependent, 1
1
Diabetes mellitus, permanent neonatal
4
Diabetes mellitus, permanent neonatal 3, with or without neurologic features
6
Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis
6
Diabetes, permanent neonatal 2, with or without neurologic features
4
Diamond Blackfan anemia 15 with mandibulofacial dysostosis
5
Diamond-Blackfan Anemia 1
9
Diamond-Blackfan Anemia 10
8
Diamond-Blackfan Anemia 11
8
Diamond-Blackfan Anemia 12
9
Diamond-Blackfan anemia 13
6
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
4
Diamond-Blackfan anemia 16
6
Diamond-Blackfan anemia 17
6
Diamond-Blackfan anemia 18
5
Diamond-Blackfan anemia 19
5
Diamond-Blackfan anemia 20
5
Diamond-Blackfan Anemia 3
8
Diamond-Blackfan Anemia 4
8
Diamond-Blackfan Anemia 5
8
Diamond-Blackfan Anemia 6
8
Diamond-Blackfan Anemia 7
8
Diamond-Blackfan Anemia 8
9
Diamond-Blackfan Anemia 9
8
Diamond-Blackfan anemia-like
3
Diaphanospondylodysostosis
3
Diaphragmatic Hernia 3
5
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
1
Diarrhea 10, protein-losing enteropathy type
2
Diarrhea 12, with microvillus atrophy
1
Diarrhea 4, Malabsorptive, Congenital
4
Diarrhea 5, With Tufting Enteropathy, Congenital
6
Diarrhea 6
5
Diarrhea 7, protein-losing enteropathy type
5
Diarrhea 8, secretory sodium, congenital
3
Diarrhea 9
1
Dias-Logan Syndrome
4
Diastrophic Dysplasia
9
Dicarboxylic Aminoaciduria
1
Diencephalic-mesencephalic junction dysplasia syndrome 2
1
Diets-Jongmans syndrome
2
Digeorge Sequence
10
Digital Clubbing, Isolated Congenital
4
Dihydrolipoamide dehydrogenase deficiency
9
Dihydropteridine Reductase Deficiency
7
Dihydropyrimidinase Deficiency
4
Dihydropyrimidine Dehydrogenase Deficiency
6
Dilated Cardiomyopathy 1A
15
Dilated Cardiomyopathy 1Aa
9
Dilated Cardiomyopathy 1BB
3
Dilated Cardiomyopathy 1C
10
Dilated Cardiomyopathy 1CC
8
Dilated Cardiomyopathy 1D
5
Dilated Cardiomyopathy 1DD
7
Dilated Cardiomyopathy 1E
5
Dilated Cardiomyopathy 1Ee
7
Dilated Cardiomyopathy 1FF
4
Dilated Cardiomyopathy 1G
5
Dilated Cardiomyopathy 1I
7
Dilated Cardiomyopathy 1J
6
Dilated Cardiomyopathy 1L
8
Dilated Cardiomyopathy 1M
3
Dilated Cardiomyopathy 1N
8
Dilated Cardiomyopathy 1O
4
Dilated Cardiomyopathy 1P
7
Dilated Cardiomyopathy 1R
7
Dilated Cardiomyopathy 1S
9
Dilated Cardiomyopathy 1W
5
Dilated Cardiomyopathy 1X
11
Dilated Cardiomyopathy 1Y
8
Dilated Cardiomyopathy 1Z
3
Dilated Cardiomyopathy 2A
7
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
3
Dimethylglycine Dehydrogenase Deficiency
2
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
7
Distal Hereditary Motor Neuronopathy Type 2A
5
Distal Hereditary Motor Neuronopathy Type 2B
5
Distal Hereditary Motor Neuronopathy Type 5
9
Distal Myopathy Markesbery-Griggs Type
5
Distichiasis-Lymphedema Syndrome
5
Dizygotic Twins
2
Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin
5
Dominant Hereditary Optic Atrophy
13
Donnai Barrow Syndrome
6
DOOR syndrome
9
Dopamine Beta Hydroxylase Deficiency
3
Dowling-Degos disease 2
1
Dowling-Degos disease 4
2
Doyne Honeycomb Retinal Dystrophy
6
Drash Syndrome
10
Duane retraction syndrome 3
5
Duane Syndrome Type 2
3
Duane-Radial Ray Syndrome
12
Dubin-Johnson Syndrome
5
Duchenne Muscular Dystrophy
8
Dworschak-Punetha neurodevelopmental syndrome
1
Dyggve-Melchior-Clausen Syndrome
4
Dyschromatosis universalis hereditaria 3
2
Dyserythropoietic Anemia, Congenital, Type Ia
7
Dyserythropoietic Anemia, Congenital, Type Ib
5
Dyserythropoietic Anemia, Congenital, Type II
8
Dyserythropoietic Anemia, Congenital, Type IV
7
Dysfibrinogenemia, congenital
6
Dyskeratosis Congenita Autosomal Dominant
9
Dyskeratosis Congenita Autosomal Recessive
7
Dyskeratosis Congenita X-Linked
12
Dyskeratosis Congenita, Autosomal Dominant 4
9
Dyskeratosis congenita, autosomal dominant 6
4
Dyskeratosis Congenita, Autosomal Dominant, 2
12
Dyskeratosis Congenita, Autosomal Dominant, 3
8
Dyskeratosis Congenita, Autosomal Recessive 6
11
Dyskeratosis Congenita, Autosomal Recessive, 2
7
Dyskeratosis Congenita, Autosomal Recessive, 3
6
Dyskinesia, familial, with facial myokymia
1
Dyskinesia, limb and orofacial, infantile-onset
1
Dyskinesia, Seizures, and Intellectual Developmental Disorder
5
Dyslexia 1
3
Dyssegmental Dysplasia Silverman-Handmaker Type
3
Dystonia 1
5
Dystonia 12
12
Dystonia 16
3
Dystonia 2, torsion, autosomal recessive
1
Dystonia 24
3
Dystonia 25
3
Dystonia 26, myoclonic
1
Dystonia 27
4
Dystonia 28, childhood-onset
2
Dystonia 3, Torsion, X-Linked
8
Dystonia 32
2
Dystonia 33
1
Dystonia 35, childhood-onset
1
Dystonia 4, Torsion
7
Dystonia 5, Dopa-Responsive Type
9
Dystonia 6, Torsion
3
Dystonia 9
11
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
7
Dystransthyretinemic Euthyroidal Hyperthyroxinemia
6
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type
3
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
3
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
2
Ectodermal Dysplasia 3, Witkop Type
6
Ectodermal Dysplasia Skin Fragility Syndrome
4
Ectodermal Dysplasia, 'Pure' Hair-Nail Type
2
Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema
2
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
5
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy
5
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
3
Ectodermal Dysplasia-Syndactyly Syndrome 1
3
Ectodermal Dysplasia/Short Stature Syndrome
6
Ectopia lentis et pupillae
5
Ectopia Lentis, Isolated Autosomal Recessive
5
Ectopia Lentis, Isolated, Autosomal Dominant
16
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
13
EDICT Syndrome
3
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
7
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies
6
Ehlers-Danlos syndrome, arthrochalasia type, 2
4
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form
10
Ehlers-Danlos Syndrome, Classic Like, 2
6
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient
7
Ehlers-Danlos Syndrome, Musculocontractural Type
9
Ehlers-Danlos Syndrome, Musculocontractural Type 2
4
Ehlers-Danlos Syndrome, Periodontal Type, 2
4
Ehlers-Danlos Syndrome, Progeroid Type, 2
7
Ehlers-Danlos Syndrome, Type 1
12
Ehlers-Danlos Syndrome, Type 2
6
Ehlers-Danlos Syndrome, Type 3
1
Ehlers-Danlos Syndrome, Type 4
11
Ehlers-Danlos Syndrome, Type VIIA and VIIB
12
Ehlers-Danlos Syndrome, Type VIIC
4
Ehlers-Danlos Syndrome, Type VIII
5
Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency
4
Eiken Skeletal Dysplasia
2
Elliptocytosis 1
2
Elliptocytosis 2
4
Elliptocytosis 3
2
Ellis-van Creveld Syndrome
15
Elsahy-Waters syndrome
3
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
9
Emery-Dreifuss muscular dystrophy 3, AR
10
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
5
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
1
Emery-Dreifuss Muscular Dystrophy 7, AD
4
Emery-Dreifuss muscular dystrophy-6
6
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
6
Encephalocraniocutaneous lipomatosis
8
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
6
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5
2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6
2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
6
Encephalopathy, Acute, Infection-Induced, 3, Suceptibility To
3
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To
9
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission
12
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
8
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
5
Encephalopathy, porphyria-related
2
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity
5
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
4
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
5
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
4
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
1
Encephalopathy, progressive, with amyotrophy and optic atrophy
4
Encephalopathy, progressive, with or without lipodystrophy
8
Endocrine-Cerebroosteodysplasia
7
Endometrial Cancer
9
Endplate Acetylcholinesterase Deficiency
4
Enhanced S-Cone Syndrome
2
Enlarged Vestibular Aqueduct Syndrome
11
Enterokinase Deficiency
1
Epidermal Nevus
17
Epidermodysplasia Verruciformis
2
Epidermodysplasia verruciformis 2
1
Epidermodysplasia verruciformis 3
2
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy
7
Epidermolysis Bullosa Herpetiformis, Dowling-Meara
4
Epidermolysis Bullosa Pruriginosa
5
Epidermolysis Bullosa Simplex
2
Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy
3
Epidermolysis Bullosa Simplex With Mottled Pigmentation
2
Epidermolysis bullosa simplex with nail dystrophy
6
Epidermolysis Bullosa Simplex With Pyloric Atresia
6
Epidermolysis Bullosa Simplex, Autosomal Recessive
3
Epidermolysis Bullosa Simplex, Autosomal Recessive 2
5
Epidermolysis Bullosa Simplex, Cockayne-Touraine Type
8
Epidermolysis Bullosa Simplex, Koebner Type
4
Epidermolysis Bullosa Simplex, Ogna Type
7
Epidermolysis Bullosa With Pyloric Atresia
8
Epidermolysis bullosa, junctional 2A, intermediate
1
Epidermolysis bullosa, junctional 2B, severe
1
Epidermolysis bullosa, junctional 4, intermediate
1
Epidermolysis Bullosa, Lethal Acantholytic
5
Epidermolysis Bullosa, Pretibial
5
Epidermolytic Hyperkeratosis
5
Epilepsy, Childhood Absence 2
5
Epilepsy, Childhood Absence 5
10
Epilepsy, Childhood Absence 6
1
Epilepsy, early-onset, 3, with or without developmental delay
1
Epilepsy, Early-Onset, Vitamin B6-Dependent
3
Epilepsy, early-onset, with or without developmental delay
1
Epilepsy, familial focal, with variable foci
5
Epilepsy, Familial Focal, with Variable Foci 2
3
Epilepsy, Familial Focal, with Variable Foci 3
3
Epilepsy, familial focal, with variable foci 4
4
Epilepsy, Familial Temporal Lobe, 7
5
Epilepsy, focal, with speech disorder and with or without mental retardation
6
Epilepsy, Hearing Loss, and Mental Retardation Syndrome
5
Epilepsy, Idiopathic Generalized 10
4
Epilepsy, Idiopathic Generalized 8
5
Epilepsy, Idiopathic Generalized 9
2
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
3
Epilepsy, idiopathic generalized, susceptibility to, 14
3
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12
10
Epilepsy, Juvenile Myoclonic 5
7
Epilepsy, juvenile myoclonic, susceptibility to, 10
5
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
4
Epilepsy, myoclonic, familial adult, 4
1
Epilepsy, Myoclonic, Familial Adult, 5
2
Epilepsy, nocturnal frontal lobe, 5
6
Epilepsy, Nocturnal Frontal Lobe, Type 1
3
Epilepsy, Nocturnal Frontal Lobe, Type 3
3
Epilepsy, Nocturnal Frontal Lobe, Type 4
3
Epilepsy, Progressive Myoclonic 3
9
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure
8
Epilepsy, Progressive Myoclonic 6
7
Epilepsy, Progressive Myoclonic 7
3
Epilepsy, Progressive Myoclonic, 10
1
Epilepsy, progressive myoclonic, 11
1
Epilepsy, progressive myoclonic, 12
1
Epilepsy, Progressive Myoclonic, 8
3
Epilepsy, Progressive Myoclonic, 9
4
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp
9
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
1
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders
6
Epileptic encephalopathy, childhood-onset
6
Epileptic encephalopathy, early infantile, 1
11
Epileptic Encephalopathy, Early Infantile, 10
7
Epileptic Encephalopathy, Early Infantile, 11
10
Epileptic Encephalopathy, Early Infantile, 12
6
Epileptic Encephalopathy, Early Infantile, 13
9
Epileptic encephalopathy, early infantile, 14
6
Epileptic Encephalopathy, Early Infantile, 15
5
Epileptic Encephalopathy, Early Infantile, 16
10
Epileptic Encephalopathy, Early Infantile, 17
7
Epileptic encephalopathy, early infantile, 18
6
Epileptic Encephalopathy, Early Infantile, 19
7
Epileptic Encephalopathy, Early Infantile, 2
9
Epileptic Encephalopathy, Early Infantile, 21
3
Epileptic Encephalopathy, Early Infantile, 23
3
Epileptic Encephalopathy, Early Infantile, 24
8
Epileptic Encephalopathy, Early Infantile, 25
8
Epileptic Encephalopathy, Early Infantile, 26
6
Epileptic Encephalopathy, Early Infantile, 27
12
Epileptic Encephalopathy, Early Infantile, 28
6
Epileptic Encephalopathy, Early Infantile, 29
5
Epileptic Encephalopathy, Early Infantile, 3
6
Epileptic Encephalopathy, Early Infantile, 31
5
Epileptic Encephalopathy, Early Infantile, 32
7
Epileptic Encephalopathy, Early Infantile, 33
4
Epileptic Encephalopathy, Early Infantile, 34
3
Epileptic Encephalopathy, Early Infantile, 35
5
Epileptic Encephalopathy, Early Infantile, 36
8
Epileptic Encephalopathy, Early Infantile, 37
5
Epileptic Encephalopathy, Early Infantile, 38
3
Epileptic Encephalopathy, Early Infantile, 39
6
Epileptic Encephalopathy, Early Infantile, 40
3
Epileptic Encephalopathy, Early Infantile, 41
5
Epileptic Encephalopathy, Early Infantile, 42
8
Epileptic Encephalopathy, Early Infantile, 43
9
Epileptic Encephalopathy, Early Infantile, 44
4
Epileptic Encephalopathy, Early Infantile, 45
5
Epileptic Encephalopathy, Early Infantile, 46
6
Epileptic Encephalopathy, Early Infantile, 47
4
Epileptic Encephalopathy, Early Infantile, 48
5
Epileptic Encephalopathy, Early Infantile, 49
3
Epileptic Encephalopathy, Early Infantile, 5
8
Epileptic Encephalopathy, Early Infantile, 50
5
Epileptic Encephalopathy, Early Infantile, 51
6
Epileptic encephalopathy, early infantile, 52
7
Epileptic Encephalopathy, Early Infantile, 53
8
Epileptic Encephalopathy, Early Infantile, 54
6
Epileptic Encephalopathy, Early Infantile, 55
5
Epileptic Encephalopathy, Early Infantile, 56
4
Epileptic encephalopathy, early infantile, 57
3
Epileptic Encephalopathy, Early Infantile, 58
4
Epileptic Encephalopathy, Early Infantile, 59
4
Epileptic encephalopathy, early infantile, 60
4
Epileptic encephalopathy, early infantile, 61
2
Epileptic Encephalopathy, Early Infantile, 62
6
Epileptic encephalopathy, early infantile, 63
3
Epileptic encephalopathy, early infantile, 64
6
Epileptic encephalopathy, early infantile, 65
4
Epileptic encephalopathy, early infantile, 66
3
Epileptic encephalopathy, early infantile, 67
4
Epileptic encephalopathy, early infantile, 68
3
Epileptic encephalopathy, early infantile, 69
3
Epileptic Encephalopathy, Early Infantile, 7
8
Epileptic encephalopathy, early infantile, 70
3
Epileptic encephalopathy, early infantile, 71
5
Epileptic encephalopathy, early infantile, 72
2
Epileptic encephalopathy, early infantile, 73
2
Epileptic encephalopathy, early infantile, 74
5
Epileptic encephalopathy, early infantile, 75
4
Epileptic encephalopathy, early infantile, 76
4
Epileptic encephalopathy, early infantile, 77
5
Epileptic encephalopathy, early infantile, 78
1
Epileptic Encephalopathy, Early Infantile, 8
7
Epileptic encephalopathy, early infantile, 80
3
Epileptic encephalopathy, early infantile, 81
4
Epileptic encephalopathy, early infantile, 82
3
Epileptic encephalopathy, early infantile, 83
3
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects
8
Epileptic Encephalopathy, Early Infantile, 9
7
Epileptic Encephalopathy, Infantile or Early Childhood, 1
3
Epileptic Encephalopathy, Infantile or Early Childhood, 2
6
Epileptic Encephalopathy, Infantile or Early Childhood, 3
6
Epiphyseal chondrodysplasia, Miura type
4
Epiphyseal dysplasia, multiple, 7
7
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
14
Episodic Ataxia Type 1
6
Episodic Ataxia Type 2
8
Episodic Ataxia, Type 5
2
Episodic Ataxia, Type 6
6
Episodic ataxia, type 9
5
Episodic Kinesigenic Dyskinesia 1
9
Episodic Pain Syndrome, Familial, 2
5
Episodic Pain Syndrome, Familial, 3
5
Epithelial recurrent erosion dystrophy
2
Epstein Syndrome
3
Erythrocyte Amp Deaminase Deficiency
1
Erythrocyte Lactate Transporter Defect
3
Erythrocytosis 6
1
Erythrocytosis, 7
1
Erythrocytosis, Familial, 2
4
Erythrocytosis, familial, 5
3
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE
2
Erythroderma, Ichthyosiform, Congenital Reticular
4
Erythrokeratodermia Variabilis Et Progressiva
4
Erythrokeratodermia variabilis et progressiva 3
9
Erythrokeratodermia variabilis et progressiva 4
1
Erythrokeratodermia veriabilis et progressiva 6
1
Erythropoietic Protoporphyria
4
Escobar Syndrome
5
Esophageal Cancer
14
Essential Hypertension
9
Essential Pentosuria
1
Essential Thrombocythemia
7
Essential tremor, hereditary, 4
1
Essential tremor, hereditary, 5
2
Estrogen resistance
1
Ethylmalonic Encephalopathy
8
eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
4
Even-plus syndrome
4
Exercise intolerance, riboflavin-responsive
3
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
1
Exostoses, Multiple, Type I
6
Exostoses, Multiple, Type II
9
Extraoral halitosis due to MTO deficiency
1
Exudative Vitreoretinopathy 2, X-Linked
12
Exudative Vitreoretinopathy 4
8
Exudative Vitreoretinopathy 5
5
Exudative Vitreoretinopathy 6
5
Exudative Vitreoretinopathy 7
8
Fabry's Disease
16
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
2
Facial Paresis, Hereditary Congenital, 3
1
Facioscapulohumeral Muscular Dystrophy 2
7
Facioscapulohumeral muscular dystrophy 4, digenic
1
Factor H Deficiency
6
Factor V And Factor VIII, Combined Deficiency Of, 1
6
Factor V And Factor VIII, Combined Deficiency Of, 2
4
Factor V Deficiency
6
Factor VII Deficiency
6
Factor X Deficiency
6
Factor XII Deficiency Disease
2
Factor XIII, A Subunit, Deficiency Of
8
Factor XIII, B Subunit, Deficiency Of
6
Failure Of Tooth Eruption, Primary
2
Fallot Tetralogy
31
Familial Adenomatous Polyposis 3
4
Familial Adenomatous Polyposis 4
3
Familial Amyloid Nephropathy With Urticaria And Deafness
10
Familial Benign Hypercalcemia
7
Familial Benign Pemphigus
1
Familial Cancer Of Breast
28
Familial Cold Autoinflammatory Syndrome 2
5
Familial cold autoinflammatory syndrome 3
4
Familial cold autoinflammatory syndrome 4
4
Familial Cold Urticaria
10
Familial Colorectal Cancer
30
Familial digital arthropathy with brachydactyly
5
Familial Dysautonomia
6
Familial Encephalopathy With Neuroserpin Inclusion Bodies
2
Familial Erythrocytosis, 1
5
Familial Exudative Vitreoretinopathy
7
Familial Gynecomastia, Due To Increased Aromatase Activity
6
Familial Hemiplegic Migraine Type 1
10
Familial Hemiplegic Migraine Type 2
7
Familial Hemiplegic Migraine Type 3
9
Familial Hypercholesterolemia
8
Familial Hypertriglyceridemia
2
Familial Hypertrophic Cardiomyopathy 1
13
Familial Hypertrophic Cardiomyopathy 10
7
Familial Hypertrophic Cardiomyopathy 11
5
Familial Hypertrophic Cardiomyopathy 12
8
Familial Hypertrophic Cardiomyopathy 13
8
Familial Hypertrophic Cardiomyopathy 14
10
Familial Hypertrophic Cardiomyopathy 15
6
Familial Hypertrophic Cardiomyopathy 16
4
Familial Hypertrophic Cardiomyopathy 18
9
Familial Hypertrophic Cardiomyopathy 2
7
Familial Hypertrophic Cardiomyopathy 20
7
Familial Hypertrophic Cardiomyopathy 3
6
Familial Hypertrophic Cardiomyopathy 4
8
Familial Hypertrophic Cardiomyopathy 6
9
Familial Hypertrophic Cardiomyopathy 7
8
Familial Hypertrophic Cardiomyopathy 8
6
Familial Hypertrophic Cardiomyopathy 9
8
Familial Hypoalphalipoproteinemia
5
Familial Hypobetalipoproteinemia
5
Familial Hypokalemia-Hypomagnesemia
4
Familial Infantile Myasthenia
6
Familial Juvenile Hyperuricemic Nephropathy
4
Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates
5
Familial Mediterranean Fever
6
Familial Mediterranean Fever, Autosomal Dominant
6
Familial Medullary Thyroid Carcinoma
8
Familial Non-Hodgkin Lymphoma
7
Familial Porphyria Cutanea Tarda
4
Familial Renal Glucosuria
2
Familial Renal Hypouricemia
4
Familial Type 5 Hyperlipoproteinemia
3
Familial Visceral Amyloidosis, Ostertag Type
7
Fanconi Anemia, Complementation Group A
15
Fanconi Anemia, Complementation Group B
11
Fanconi Anemia, Complementation Group C
13
Fanconi Anemia, Complementation Group D1
15
Fanconi Anemia, Complementation Group D2
11
Fanconi Anemia, Complementation Group E
10
Fanconi Anemia, Complementation Group F
11
Fanconi Anemia, Complementation Group G
11
Fanconi Anemia, Complementation Group I
9
Fanconi Anemia, Complementation Group J
15
Fanconi Anemia, Complementation Group L
10
Fanconi Anemia, Complementation Group M
2
Fanconi Anemia, Complementation Group N
17
Fanconi Anemia, Complementation Group O
12
Fanconi Anemia, Complementation Group P
11
Fanconi anemia, Complementation Group Q
13
Fanconi Anemia, Complementation Group R
7
Fanconi Anemia, Complementation Group S
11
Fanconi Anemia, Complementation Group T
7
Fanconi Anemia, Complementation Group U
9
Fanconi Anemia, Complementation Group V
7
Fanconi Anemia, Complementation Group W
7
Fanconi renotubular syndrome 1
6
Fanconi Renotubular Syndrome 2
6
Fanconi renotubular syndrome 3
3
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young
7
Fanconi renotubular syndrome 5
4
Fanconi-Bickel Syndrome
14
Farber's Lipogranulomatosis
11
Fasting Plasma Glucose Level Quantitative Trait Locus 5
1
Fazio-Londe Disease
9
Febrile Seizures, Familial, 4
4
Fechtner Syndrome
3
Feingold Syndrome 1
10
Feingold Syndrome 2
6
Fetal Akinesia Deformation Sequence
8
Fetal akinesia deformation sequence 2
1
Fetal akinesia deformation sequence 3
1
Fetal akinesia deformation sequence 4
1
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
4
Fetal Hemoglobin Quantitative Trait Locus 1
1
Fetal Hemoglobin Quantitative Trait Locus 6
5
Fg Syndrome
17
FG Syndrome 2
20
FG Syndrome 4
10
Fibrochondrogenesis
10
Fibrochondrogenesis 2
9
Fibrodysplasia Ossificans Progressiva
6
Fibromatosis, gingival, 5
2
Fibromuscular dysplasia, multifocal
3
Fibrosis Of Extraocular Muscles, Congenital, 1
1
Fibrosis Of Extraocular Muscles, Congenital, 2
2
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
7
Fibrosis of extraocular muscles, congenital, 5
2
Fibular Hypoplasia And Complex Brachydactyly
6
Filippi syndrome
6
FILS syndrome
6
FINCA syndrome
2
Finnish Congenital Nephrotic Syndrome
3
Fish-Eye Disease
5
Fleck Corneal Dystrophy
4
Fleck Retina, Familial Benign
6
Fliedner-Zweier syndrome
1
Floating-Harbor Syndrome
9
Focal Cortical Dysplasia Of Taylor
10
Focal Dermal Hypoplasia
7
Focal facial dermal dysplasia 3, Setleis type
1
Focal Segmental Glomerulosclerosis 1
4
Focal segmental glomerulosclerosis 10
3
Focal Segmental Glomerulosclerosis 2
5
Focal Segmental Glomerulosclerosis 3, Susceptibility To
4
Focal Segmental Glomerulosclerosis 4, Susceptibility To
4
Focal Segmental Glomerulosclerosis 5
2
Focal Segmental Glomerulosclerosis 6
2
Focal Segmental Glomerulosclerosis 8
4
Focal Segmental Glomerulosclerosis 9
5
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
2
Folate Malabsorption, Hereditary
9
Follicle-Stimulating Hormone Deficiency, Isolated
7
Fontaine progeroid syndrome
4
Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis
6
Foveal Hypoplasia And Presenile Cataract Syndrome
11
Fragile X Syndrome
4
Fragile X Tremor/Ataxia Syndrome
4
Frank Ter Haar Syndrome
7
Fraser Syndrome
16
Fraser Syndrome 2
15
Fraser Syndrome 3
10
Frasier Syndrome
10
Freeman-Sheldon Syndrome
10
Friedreich's Ataxia
3
Frontometaphyseal Dysplasia
17
Frontometaphyseal Dysplasia 2
2
Frontonasal Dysplasia
5
Frontonasal Dysplasia 2
5
Frontonasal Dysplasia 3
2
Frontotemporal Dementia
10
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
8
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
9
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4
9
Frontotemporal Dementia, Ubiquitin-Positive
11
Fructose-Biphosphatase Deficiency
6
Fructosuria, Essential
1
Fucosidosis
8
Fuhrmann Syndrome
3
Fukuyama Congenital Muscular Dystrophy
15
Fumarase Deficiency
9
Gabriele-de Vries syndrome
2
Galactosemia
9
Galactosemia IV
1
Galactosialidosis
9
Galactosylceramide Beta-Galactosidase Deficiency
11
Gallbladder Disease 4
3
Galloway-Mowat Syndrome
8
Galloway-Mowat syndrome 10
1
Galloway-Mowat Syndrome 2, X-linked
7
Galloway-Mowat Syndrome 3
9
Galloway-Mowat Syndrome 4
7
Galloway-Mowat Syndrome 5
6
Galloway-Mowat syndrome 6
7
Galloway-Mowat syndrome 7
3
Galloway-Mowat syndrome 8
3
Galloway-Mowat syndrome 9
1
Gamma Aminobutyric Acid Transaminase Deficiency
4
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
3
Ganglioside Sialidase Deficiency
6
Gangliosidosis GM1 Type 3
8
GAPO Syndrome
2
Gastric adenocarcinoma and proximal polyposis of the stomach
2
Gastric Lymphoma
2
Gastrointestinal defects and immunodeficiency syndrome
4
Gastrointestinal defects and immunodeficiency syndrome 2
1
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial
5
Gastrointestinal Stromal Tumors
10
Gastrointestinal ulceration, recurrent, with dysfunctional platelets
1
GATA-1-Related Thrombocytopenia With Dyserythropoiesis
12
Gaucher Disease, Atypical, Due To Saposin C Deficiency
6
Gaucher Disease, Perinatal Lethal
8
Gaucher Disease, Type 1
8
Gaucher Disease, Type II
8
Gaucher Disease, Type III
7
Gaucher Disease, Type IIIc
8
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis
3
Gaze palsy, familial horizontal, with progressive scoliosis, 2
3
Geleophysic Dysplasia
5
Geleophysic Dysplasia 2
16
Geleophysic dysplasia 3
5
Generalized Dominant Dystrophic Epidermolysis Bullosa
5
Generalized Epilepsy And Paroxysmal Dyskinesia
5
Generalized Epilepsy With Febrile Seizures Plus, Type 1
8
Generalized epilepsy with febrile seizures plus, type 10
7
Generalized epilepsy with febrile seizures plus, type 12
1
Generalized Epilepsy With Febrile Seizures Plus, Type 2
10
Generalized Epilepsy With Febrile Seizures Plus, Type 3
1
Generalized Epilepsy With Febrile Seizures Plus, Type 7
4
Generalized Epilepsy with Febrile Seizures Plus, Type 9
6
Genitopatellar Syndrome
7
Genitourinary and/or/brain malformation syndrome
6
Geroderma Osteodysplasticum
6
Ghosal Syndrome
5
Giant Axonal Neuropathy
7
Giant axonal neuropathy 2, autosomal dominant
1
Gilbert Syndrome
4
Gillessen-Kaesbach-Nishimura syndrome
8
Glanzmann thrombasthenia 2
2
Glanzmann's Thrombasthenia
12
Glass Syndrome
5
Glaucoma 1, open angle, F
1
Glaucoma 1, Open Angle, G
3
Glaucoma 1, Open Angle, O
2
Glaucoma 3, Primary Congenital, D
10
Glaucoma 3, primary congenital, E
2
Glaucoma, Congenital
5
Glaucoma, Normal Tension, Susceptibility To
9
Glaucoma, primary closed-angle
5
Glioma Susceptibility 1
8
Glioma Susceptibility 2
8
Glioma Susceptibility 3
8
Glioma Susceptibility 9
5
Global developmental delay with speech and behavioral abnormalities
1
Global developmental delay, progressive ataxia, and elevated glutamine
5
Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
1
Glomerulopathy With Fibronectin Deposits 2
3
Glomerulosclerosis, Focal Segmental, 7
8
GLOW syndrome, somatic mosaic
3
Glucocorticoid Deficiency 2
3
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency
3
Glucocorticoid deficiency 5
6
Glucocorticoid Deficiency With Achalasia
2
Glucocorticoid Resistance
4
Glucocorticoid-Remediable Aldosteronism
3
Glut1 Deficiency Syndrome 1
11
Glut1 Deficiency Syndrome 2
11
Glutamate Formiminotransferase Deficiency
2
Glutamine Deficiency, Congenital
4
Glutaric Aciduria III
1
Glutaric Aciduria, Type 1
10
Glutaric Aciduria, Type 2
20
Glutathione Peroxidase Deficiency
1
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
6
Gluthathione Synthetase Deficiency
6
Glycerol Kinase Deficiency
5
Glycine Encephalopathy
8
Glycine encephalopathy 2
1
Glycine encephalopathy with normal serum glycine
3
Glycine N-Methyltransferase Deficiency
4
Glycogen Storage Disease 0, Liver
5
Glycogen Storage Disease 0, Muscle
5
Glycogen Storage Disease Of Heart, Lethal Congenital
9
Glycogen Storage Disease Type Ia
6
Glycogen Storage Disease Type Ib
9
Glycogen Storage Disease Type Ic
8
Glycogen Storage Disease Type II
14
Glycogen Storage Disease Type III
10
Glycogen Storage Disease Type IV
10
Glycogen Storage Disease Type IXa1
6
Glycogen Storage Disease Type IXc
4
Glycogen Storage Disease Type IXd
7
Glycogen Storage Disease Type V
6
Glycogen Storage Disease Type VI
4
Glycogen Storage Disease Type VII
7
Glycogen Storage Disease Type X
5
Glycogen Storage Disease Type XI
4
Glycogen Storage Disease Type XII
4
Glycogen Storage Disease Type XIII
4
Glycogen Storage Disease Type XV
5
Glycogen Storage DiseaseType IXb
7
Glycosylphosphatidylinositol biosynthesis defect 11
4
Glycosylphosphatidylinositol biosynthesis defect 15
8
Glycosylphosphatidylinositol biosynthesis defect 16
3
Glycosylphosphatidylinositol biosynthesis defect 17
4
Glycosylphosphatidylinositol biosynthesis defect 18
5
Glycosylphosphatidylinositol biosynthesis defect 21
3
Glycosylphosphatidylinositol Deficiency
4
Gnathodiaphyseal Dysplasia
4
GNE Myopathy
9
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
8
Goldberg-Shprintzen Megacolon Syndrome
5
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
2
Gonadotropin-Independent Familial Sexual Precocity
6
Gorlin Syndrome
13
Gout, HPRT-Related
6
Gracile Bone Dysplasia
6
GRACILE Syndrome
7
Graft-Versus-Host Disease, Susceptibility To
2
Grange syndrome
4
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative
6
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type II
5
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III
5
Granulomatous Disease, Chronic, X-Linked
7
Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial
5
Gray Platelet Syndrome
6
Grebe Syndrome
6
Greenberg Dysplasia
8
Greig Cephalopolysyndactyly Syndrome
14
Griscelli Syndrome Type 1
8
Griscelli Syndrome Type 2
12
Griscelli Syndrome Type 3
6
Groenouw Corneal Dystrophy Type I
2
Growth Hormone Deficiency, Isolated Partial
1
Growth hormone deficiency, isolated, type V
1
Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
1
Growth Hormone Insensitivity With Immunodeficiency
2
Growth restriction, severe, with distinctive facies
2
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
3
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
1
Gtp Cyclohydrolase I Deficiency
5
Gyrate Atrophy of Choroid and Retina with or without Ornithinemia
7
Haim-Munk Syndrome
5
Hajdu-Cheney Syndrome
12
Hamamy syndrome
1
Hand Foot Uterus Syndrome
8
Hao-Fountain syndrome
1
Harderoporphyria
1
Hardikar syndrome
2
Harlequin Ichthyosis
6
Hartnup Disease
3
Hartsfield syndrome
16
Hashimoto Thyroiditis
3
Hawkinsinuria
4
Hay-Wells Syndrome
12
Heart and brain malformation syndrome
3
Heart-Hand Syndrome, Slovenian Type
8
Heimler syndrome 1
13
Heimler syndrome 2
11
Heinz Body Anemias
3
Helicobacter Pylori Infection, Susceptibility To
2
HELIX syndrome
1
Helsmoortel-van der Aa Syndrome
6
Hemangioma, Capillary Infantile
5
Heme Oxygenase 1 Deficiency
3
Hemifacial myohyperplasia, somatic
1
Hemochromatosis Type 1
10
Hemochromatosis Type 2
3
Hemochromatosis Type 2B
3
Hemochromatosis Type 3
3
Hemochromatosis Type 4
4
Hemochromatosis Type 5
2
Hemoglobin H Disease
4
Hemolytic anemia due to elevated adenosine deaminase
1
Hemolytic anemia due to G6PD deficiency
6
Hemolytic anemia due to glutathione reductase deficiency
2
Hemolytic Anemia Due To Hexokinase Deficiency
5
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency
5
Hemolytic anemia, congenital, X-linked
1
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
4
Hemolytic uremic syndrome, atypical, susceptibility to, 2
2
Hemophagocytic Lymphohistiocytosis, Familial, 2
9
Hemophagocytic Lymphohistiocytosis, Familial, 3
9
Hemophagocytic Lymphohistiocytosis, Familial, 4
8
Hemophagocytic lymphohistiocytosis, Familial, 5
9
Hemophilia A, Congenital
2
Hemophilia A, Congenital
6
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
9
Hengel-Maroofian-Schols syndrome
1
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
7
Hennekam lymphangiectasia-lymphedema syndrome 3
4
Hennekam Syndrome
11
Heparin Cofactor II Deficiency
1
Hepatic Adenomas, Familial
4
Hepatic Lipase Deficiency
1
Hepatic Venoocclusive Disease With Immunodeficiency
2
Hepatitis B Virus, Susceptibility To
3
Hepatitis C Virus, Susceptibility To
5
Hereditary Angioneurotic Edema
4
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
2
Hereditary Coproporphyria
6
Hereditary Diffuse Gastric Cancer
19
Hereditary Factor IX Deficiency Disease
5
Hereditary Factor XI Deficiency Disease
5
Hereditary Fructose Intolerance
6
Hereditary Gingival Fibromatosis
5
Hereditary Hemorrhagic Telangiectasia Type 2
6
Hereditary Insensitivity To Pain With Anhidrosis
5
Hereditary Leiomyomatosis And Renal Cell Cancer
10
Hereditary Liability To Pressure Palsies
2
Hereditary Lymphedema Type 1C
4
Hereditary Lymphedema Type I
6
Hereditary Mixed Polyposis Syndrome 2
8
Hereditary Myopathy With Early Respiratory Failure
5
Hereditary Neuralgic Amyotrophy
2
Hereditary Neutrophilia
2
Hereditary Nonpolyposis Colorectal Cancer Type 4
15
Hereditary Nonpolyposis Colorectal Cancer Type 5
16
Hereditary Nonpolyposis Colorectal Cancer Type 6
8
Hereditary Nonpolyposis Colorectal Cancer Type 7
4
Hereditary Nonpolyposis Colorectal Cancer Type 8
17
Hereditary Pyropoikilocytosis
3
Hereditary Sideroblastic Anemia
6
Hereditary Spherocytosis
4
Hermansky-Pudlak Syndrome 1
13
Hermansky-Pudlak Syndrome 10
9
Hermansky-Pudlak syndrome 11
1
Hermansky-Pudlak Syndrome 2
14
Hermansky-Pudlak Syndrome 3
13
Hermansky-Pudlak Syndrome 4
13
Hermansky-Pudlak Syndrome 5
12
Hermansky-Pudlak Syndrome 6
12
Hermansky-Pudlak Syndrome 7
13
Hermansky-Pudlak Syndrome 8
13
Hermansky-Pudlak Syndrome 9
12
Herpes Simplex Encephalitis 1
2
Herpes Simplex Encephalitis 2
3
Heterotaxy, visceral, 10, autosomal, with male infertility
1
Heterotaxy, Visceral, 2, Autosomal
1
Heterotaxy, Visceral, 4, Autosomal
6
Heterotaxy, Visceral, 5
9
Heterotaxy, visceral, 6, autosomal recessive
4
Heterotaxy, Visceral, 7, Autosomal
3
Heterotaxy, visceral, 8, autosomal
5
Heterotaxy, visceral, 9, autosomal, with male infertility
1
Heterotaxy, Visceral, X-Linked
8
Heterotopia, Periventricular, Autosomal Recessive
9
Heterotopia, Periventricular, Ehlers-Danlos Variant
1
Heyn-Sproul-Jackson syndrome
6
Hiatt-Neu-Cooper neurodevelopmental syndrome
2
Hidradenitis Suppurativa, Familial
2
Hidrotic Ectodermal Dysplasia Syndrome
4
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12
1
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6
1
Hijazi-Reis syndrome
1
Hip dysplasia, Beukes type
2
Hirschsprung Disease 1
9
Hirschsprung Disease 2
9
Hirschsprung Disease 3
4
Hirschsprung Disease 4
10
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
4
Histidinemia
1
Histiocytosis-lymphadenopathy plus syndrome
7
Hodgkin Lymphoma
1
Holoprosencephaly 11
6
Holoprosencephaly 12, with or without pancreatic agenesis
4
Holoprosencephaly 13, X-linked
5
Holoprosencephaly 2
6
Holoprosencephaly 3
12
Holoprosencephaly 4
7
Holoprosencephaly 5
7
Holoprosencephaly 7
11
Holoprosencephaly 9
13
Holoprosencephaly Sequence
2
Holt-Oram Syndrome
8
Homocystinuria Due To Cbs Deficiency
15
Homocystinuria due to MTHFR Deficiency
11
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblE Complementation Type
7
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type
7
Humerofemoral hypoplasia with radiotibial ray deficiency
1
Huntington Disease
2
Huriez syndrome
1
Hurler Syndrome
7
Hutchinson-Gilford Syndrome
9
Hyaline Fibromatosis Syndrome
3
Hydrocephalus, congenital communicating, 1
2
Hydrocephalus, Nonsyndromic, 1
6
Hydrocephalus, Nonsyndromic, 3
4
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
7
Hydrocephalus, normal pressure, 1
2
Hydrolethalus Syndrome 1
1
Hydrolethalus Syndrome 2
15
Hydrops, lactic acidosis, and sideroblastic anemia
4
Hydroxykynureninuria
4
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
3
Hyper-IgE recurrent infection syndrome 4, autosomal recessive
3
Hyper-IgE recurrent infection syndrome 5, autosomal recessive
2
Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections
1
Hyperaldosteronism, familial, type II
5
Hyperaldosteronism, Familial, Type III
4
Hyperaldosteronism, Familial, Type IV
3
Hyperalphalipoproteinemia
2
Hyperalphalipoproteinemia 2
1
Hyperammonemia due to carbonic anhydrase VA deficiency
5
Hyperammonemia, Type III
5
Hyperbiliverdinemia
1
Hypercalcemia, infantile, 2
4
Hypercalciuria, Absorptive, 2
3
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
4
Hypercholanemia, Familial
4
Hypercholanemia, familial 2
1
Hypercholesterolemia, Autosomal Dominant, 3
4
Hypercholesterolemia, Autosomal Dominant, Type B
6
Hypercholesterolemia, Autosomal Recessive
4
Hyperekplexia 2
2
Hyperekplexia 3
2
Hyperekplexia 4
3
Hyperekplexia Hereditary
4
Hyperferritinemia Cataract Syndrome
7
Hyperglycinuria
3
Hyperimmunoglobulin D With Periodic Fever
12
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive
8
Hyperimmunoglobulin E Syndrome
10
Hyperinsulinemic Hypoglycemia Familial 5
6
Hyperinsulinemic Hypoglycemia, Familial 3
5
Hyperinsulinemic Hypoglycemia, Familial 6
10
Hyperinsulinemic Hypoglycemia, Familial, 1
9
Hyperinsulinemic Hypoglycemia, Familial, 2
8
Hyperinsulinemic Hypoglycemia, Familial, 4
9
Hyperinsulinemic Hypoglycemia, Familial, 7
5
Hyperkalemic Periodic Paralysis; HYPP
6
Hyperlipidemia, Familial Combined
4
Hyperlipoproteinemia, Type 1D
3
Hyperlipoproteinemia, Type I
5
Hyperlipoproteinemia, Type III
5
Hyperlysinemia
3
Hypermanganesemia with dystonia 1
3
Hypermanganesemia with dystonia 2
3
Hypermethioninemia Due To Adenosine Kinase Deficiency
6
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
9
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
6
Hyperostosis cranalis interna
2
Hyperparathyroidism 1
4
Hyperparathyroidism 2
4
Hyperparathyroidism 4
1
Hyperparathyroidism, Neonatal Severe Primary
6
Hyperparathyroidism, transient neonatal
3
Hyperphenylalaninemia, Mild, Non-BH4-Deficient
7
Hyperphosphatasemia Tarda
3
Hyperphosphatasemia With Bone Disease
3
Hyperphosphatasia With Mental Retardation
8
Hyperphosphatasia with mental retardation syndrome 2
7
Hyperphosphatasia with mental retardation syndrome 3
3
Hyperphosphatasia with mental retardation syndrome 4
5
Hyperphosphatasia with Mental Retardation Syndrome 6
4
Hyperpigmentation with or without Hypopigmentation
3
Hyperproinsulinemia
4
Hyperprolactinemia
2
Hypertelorism, Teebi type
4
Hypertension and Brachydactyly Syndrome
5
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
5
Hyperthyroidism, Familial Gestational
3
Hyperthyroidism, Nonautoimmune
3
Hypertrichotic Osteochondrodysplasia
6
Hypertriglyceridemia, transient infantile
2
Hypertrophic osteoarthropathy, primary, autosomal dominant
2
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2
3
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis
5
Hyperuricemic Nephropathy, Familial Juvenile, 2
4
Hyperuricemic Nephropathy, Familial Juvenile, 4
4
Hypervalinemia or hyperleucine-isoleucinemia
1
Hypoalphalipoproteinemia, primary, 2, intermediate
1
Hypobetalipoproteinemia
5
Hypobetalipoproteinemia, Familial, 2
2
Hypocalcemia, autosomal dominant
9
Hypocalcemia, autosomal dominant 2
4
Hypocalciuric Hypercalcemia, Familial, Type III
6
Hypocalciuric hypercalcemia, type II
4
Hypochondroplasia
13
Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica
8
Hypogonadotropic Hypogonadism 10 with or without Anosmia
6
Hypogonadotropic Hypogonadism 11 with or without Anosmia
7
Hypogonadotropic Hypogonadism 12 with or without Anosmia
7
Hypogonadotropic Hypogonadism 13 with or without Anosmia
8
Hypogonadotropic Hypogonadism 14 with or without Anosmia
8
Hypogonadotropic Hypogonadism 15 with or without Anosmia
7
Hypogonadotropic Hypogonadism 16 with or without Anosmia
8
Hypogonadotropic Hypogonadism 17 with or without Anosmia
5
Hypogonadotropic Hypogonadism 18 with or without Anosmia
8
Hypogonadotropic Hypogonadism 19 with or without Anosmia
4
Hypogonadotropic Hypogonadism 20 with or without Anosmia
5
Hypogonadotropic Hypogonadism 21 with Anosmia
4
Hypogonadotropic Hypogonadism 22, with or without Anosmia
7
Hypogonadotropic Hypogonadism 7 with or without Anosmia
10
Hypogonadotropic Hypogonadism 8 with or without Anosmia
7
Hypogonadotropic Hypogonadism 9 with or without Anosmia
7
Hypohidrotic Ectodermal Dysplasia With Immune Deficiency
5
Hypohidrotic X-Linked Ectodermal Dysplasia
3
Hypokalemic Periodic Paralysis
3
Hypokalemic Periodic Paralysis, Type 2
5
Hypomagnesemia 1, Intestinal
4
Hypomagnesemia 2, Renal
7
Hypomagnesemia 4, Renal
4
Hypomagnesemia 5, Renal, With Ocular Involvement
8
Hypomagnesemia 6, Renal
4
Hypomagnesemia, seizures, and mental retardation
3
Hypomagnesemia, seizures, and mental retardation 2
5
Hypomyelinating neuropathy, congenital, 2
1
Hypomyelinating neuropathy, congenital, 3
5
Hypomyelination And Congenital Cataract
6
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
6
Hypoparathyroidism Retardation Dysmorphism Syndrome
7
Hypoparathyroidism, Familial Isolated
5
Hypoparathyroidism, X-linked
1
Hypophosphatemic Rickets, Autosomal Dominant
7
Hypophosphatemic Rickets, Autosomal Recessive, 2
7
Hypophosphatemic Rickets, X-Linked Dominant
7
Hypophosphatemic Rickets, X-Linked Recessive
6
Hypophosphatemic Vitamin D Refractory Rickets
5
Hypopigmentation, organomegaly, and delayed myelination and development
3
Hypoplastic Left Heart Syndrome
10
Hypoplastic Left Heart Syndrome 2
10
Hypoplastic or Aplastic Tibia with Polydactyly
5
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
5
Hypoproteinemia, Hypercatabolic
3
Hypospadias 1, X-Linked
3
Hypospadias 2, X-Linked
5
Hypospadias 3, Autosomal
2
Hypotaurinemic retinal degeneration and cardiomyopathy
1
Hypothalamic Hamartomas
6
Hypothryoidism, Congenital, Nongoitrous 4
3
Hypothyroidism, Central, and Testicular Enlargement
3
Hypothyroidism, Congenital, Due To Thyroid Dysgenesis
4
Hypothyroidism, congenital, nongoitrous, 1
2
Hypothyroidism, Congenital, Nongoitrous, 5
9
Hypothyroidism, Congenital, Nongoitrous, 6
3
Hypotonia, ataxia, and delayed development syndrome
5
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
1
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
2
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies
7
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
8
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
5
Hypotonia-Cystinuria Syndrome
1
Hypotrichosis 12
1
Hypotrichosis 14
2
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
3
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
1
I Cell Disease
7
Ichthyosiform Erythroderma, Nonbullous Congenital
4
Ichthyosis Bullosa Of Siemens
4
Ichthyosis Follicularis Atrichia Photophobia Syndrome
8
Ichthyosis Histrix, Curth-Macklin Type
3
Ichthyosis Lamellar 3
4
Ichthyosis Prematurity Syndrome
3
Ichthyosis Vulgaris
1
Ichthyosis, congenital, autosomal recessive 10
5
Ichthyosis, Congenital, Autosomal Recessive 11
2
Ichthyosis, congenital, autosomal recessive 13
1
Ichthyosis, congenital, autosomal recessive 14
1
Ichthyosis, congenital, autosomal recessive 3
4
Ichthyosis, congenital, autosomal recessive 4A
6
Ichthyosis, Congenital, Autosomal Recessive 8
3
Ichthyosis, Congenital, Autosomal Recessive 9
3
Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related
3
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
5
Ichthyosis, Hystrix-Like, With Deafness
3
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
2
Ichthyosis, spastic quadriplegia, and mental retardation
5
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies
2
Idiopathic Fibrosing Alveolitis, Chronic Form
3
Idiopathic Hypercalcemia Of Infancy
2
Idiopathic Hypereosinophilic Syndrome
3
Ige Responsiveness, Atopic
1
IL12RB1 Deficiency
4
Imagawa-Matsumoto syndrome
1
IMAGE Syndrome
10
IMAGE-I syndrome
5
Imerslund-Grasbeck syndrome 2
1
Iminoglycinuria
3
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1
3
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2
8
Immunodeficiency 102
2
Immunodeficiency 11A
4
Immunodeficiency 11B with atopic dermatitis
4
Immunodeficiency 12
3
Immunodeficiency 13
6
Immunodeficiency 14 (Activated PI3K-Delta Syndrome; APDS)
10
Immunodeficiency 14B, autosomal recessive
2
Immunodeficiency 15
2
Immunodeficiency 15A
1
Immunodeficiency 16
2
Immunodeficiency 17, CD3 gamma deficient
3
Immunodeficiency 18
3
Immunodeficiency 19
3
Immunodeficiency 22
2
Immunodeficiency 23
8
Immunodeficiency 24
3
Immunodeficiency 26, with or without neurologic abnormalities
3
Immunodeficiency 27B, mycobacteriosis, AD
3
Immunodeficiency 28, mycobacteriosis
5
Immunodeficiency 29, mycobacteriosis
3
Immunodeficiency 31A, mycobacteriosis, autosomal dominant
5
Immunodeficiency 32A, mycobacteriosis, autosomal dominant
3
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
3
Immunodeficiency 36 (Activated PI3K-Delta Syndrome; APDS)
9
Immunodeficiency 37
3
Immunodeficiency 38
3
Immunodeficiency 39
2
Immunodeficiency 40
2
Immunodeficiency 42
3
Immunodeficiency 44
3
Immunodeficiency 45
2
Immunodeficiency 46
3
Immunodeficiency 48
3
Immunodeficiency 49
4
Immunodeficiency 50
2
Immunodeficiency 52
3
Immunodeficiency 53
2
Immunodeficiency 54
2
Immunodeficiency 55
5
Immunodeficiency 56
2
Immunodeficiency 57
4
Immunodeficiency 58
3
Immunodeficiency 59 and hypoglycemia
2
Immunodeficiency 60
1
Immunodeficiency 61
2
Immunodeficiency 62
2
Immunodeficiency 63 with lymphoproliferation and autoimmunity
2
Immunodeficiency 64
2
Immunodeficiency 65, susceptibility to viral infections
2
Immunodeficiency 66
2
Immunodeficiency 69, mycobacteriosis
2
Immunodeficiency 7, TCR-alpha/beta deficient
2
Immunodeficiency 70
2
Immunodeficiency 72 with autoinflammation
3
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
1
Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
1
Immunodeficiency 74, COVID19-related, X-linked
2
Immunodeficiency 75
3
Immunodeficiency 76
1
Immunodeficiency 78 with autoimmunity and developmental delay
1
Immunodeficiency 8
3
Immunodeficiency 80 with or without cardiomyopathy
2
Immunodeficiency 82 with systemic inflammation
2
Immunodeficiency 84
2
Immunodeficiency 86, mycobacteriosis
1
Immunodeficiency 87 and autoimmunity
1
Immunodeficiency 88
2
Immunodeficiency 92
2
Immunodeficiency 93 and hypertrophic cardiomyopathy
2
Immunodeficiency 94 with autoinflammation and dysmorphic facies
1
Immunodeficiency 95
1
Immunodeficiency 97 with autoinflammation
2
Immunodeficiency 98 with autoinflammation, X-linked
2
Immunodeficiency and Hepatopathy with Cutis Laxa
10
Immunodeficiency Due To Defect In Cd3-Zeta
3
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
4
Immunodeficiency Due To Ficolin 3 Deficiency
2
Immunodeficiency With Hyper Igm Type 1
6
Immunodeficiency With Hyper IgM Type 2
7
Immunodeficiency With Hyper IgM Type 3
4
Immunodeficiency With Hyper IgM Type 5
5
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia
2
Immunodeficiency, Common Variable, 1
5
Immunodeficiency, common variable, 10
8
Immunodeficiency, common variable, 11
5
Immunodeficiency, common variable, 12
5
Immunodeficiency, common variable, 13
5
Immunodeficiency, common variable, 14
4
Immunodeficiency, Common Variable, 3
5
Immunodeficiency, Common Variable, 4
5
Immunodeficiency, Common Variable, 5
5
Immunodeficiency, Common Variable, 6
5
Immunodeficiency, common variable, 7
5
Immunodeficiency, Common Variable, 8, with Autoimmunity
7
Immunodeficiency, developmental delay, and hypohomocysteinemia
3
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
8
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
4
Immunodeficiency-centromeric instability-facial anomalies syndrome 3
2
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
2
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked
6
Immunoglobulin A Deficiency 2
4
Immunoglobulin Kappa Light Chain Deficiency
2
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
6
Inclusion Body Myopathy 3
3
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
12
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2
2
Inclusion Body Myopathy with Early-Onset Paget Disease without Frontotemporal Dementia 3
2
Incontinentia Pigmenti
7
Indifference To Pain, Congenital, Autosomal Recessive
6
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
4
Infantile cerebellar-retinal degeneration
11
Infantile Gm1 Gangliosidosis
9
Infantile Hypophosphatasia
11
Infantile Liver Failure Syndrome 1
4
Infantile Liver Failure Syndrome 2
13
Infantile liver failure syndrome 3
1
Infantile Nephronophthisis
13
Infantile Neuroaxonal Dystrophy
7
Infantile Parkinsonism-Dystonia
7
Infantile-Onset Ascending Hereditary Spastic Paralysis
6
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
4
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
1
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
4
Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA
3
Inflammatory bowel disease (Crohn disease) 30
2
Inflammatory Bowel Disease 1
4
Inflammatory Bowel Disease 13
1
Inflammatory Bowel Disease 17
2
Inflammatory Bowel Disease 25, Autosomal Recessive
3
Inflammatory Bowel Disease 28, Autosomal Recessive
3
Inflammatory bowel disease, immunodeficiency, and encephalopathy
5
Inflammatory Skin And Bowel Disease, Neonatal
3
Inflammatory skin and bowel disease, neonatal, 2
2
Inosine Triphosphatase Deficiency
4
Insulin-Like Growth Factor 1 Resistance To
4
Insulin-Like Growth Factor I Deficiency
1
Insulin-Resistant Diabetes Mellitus And Acanthosis Nigricans
5
Insulinomatosis and diabetes mellitus
3
Intellectual developmental disorder 60 with seizures
2
Intellectual developmental disorder 61
4
Intellectual developmental disorder 62
2
Intellectual developmental disorder and retinitis pigmentosa
1
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
1
Intellectual developmental disorder with autism and speech delay
3
Intellectual developmental disorder with autistic features and language delay, with or without seizures
2
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
4
Intellectual developmental disorder with cardiac arrhythmia
1
Intellectual developmental disorder with cardiac defects and dysmorphic facies
3
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
2
Intellectual developmental disorder with dysmorphic facies and ptosis
3
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
2
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
3
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
4
Intellectual developmental disorder with hypotonia and behavioral abnormalities
1
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
2
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
2
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
3
Intellectual developmental disorder with neuropsychiatric features
2
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
3
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
2
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
2
Intellectual developmental disorder with seizures and language delay
2
Intellectual developmental disorder with severe speech and ambulation defects
4
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
2
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
4
Intellectual developmental disorder, autosomal dominant 65
1
Intellectual developmental disorder, autosomal dominant 66
2
Intellectual developmental disorder, autosomal dominant 68
1
Intellectual developmental disorder, autosomal dominant 69
1
Intellectual developmental disorder, autosomal dominant 70
2
Intellectual developmental disorder, autosomal recessive 70
1
Intellectual developmental disorder, autosomal recessive 71
1
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
1
Intellectual developmental disorder, autosomal recessive 77
1
Intellectual developmental disorder, autosomal recessive 81
1
Intellectual developmental disorder, X-linked 108
2
Intellectual developmental disorder, X-linked 110
1
Intellectual developmental disorder, X-linked 50
4
Intellectual developmental disorder, X-linked syndromic, Pilorge type
1
Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies
1
Intellectual developmental disorder, X-linked, syndromic, Armfield type
2
Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type
2
Intellectual disability and myopathy syndrome
1
Interleukin 2 Receptor, Alpha, Deficiency Of
6
Interleukin 36 Receptor Antagonist Deficiency
5
Interstitial Lung and Liver Disease
4
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital
8
Intervertebral Disc Disorder
9
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked
14
Intrinsic Factor Deficiency
2
Invasive Pneumococcal Disease, Recurrent Isolated, 1
1
Invasive Pneumococcal Disease, Recurrent Isolated, 2
2
IRAK4 Deficiency
5
Iridogoniodysgenesis Type1
12
Iridogoniodysgenesis, Dominant Type
13
Ischemic Stroke
4
Isolated Lutropin Deficiency
4
Isolated X-Linked Adrenal Hypoplasia Congenita
8
Isovaleryl-CoA Dehydrogenase Deficiency
7
Ivic Syndrome
9
Jaberi-Elahi syndrome
3
Jackson-Weiss Syndrome
19
Jalili Syndrome
6
Jansen de Vries syndrome
2
Jawad syndrome
3
Jeffries-Lakhani neurodevelopmental syndrome
1
Jensen Syndrome
2
Jervell And Lange-Nielsen Syndrome 2
6
Jervell And Lange-Nielson Syndrome
6
Johanson-Blizzard Syndrome
7
Joint laxity, short stature, and myopia
3
Joubert Syndrome
14
Joubert Syndrome 1
14
Joubert Syndrome 10
21
Joubert Syndrome 13
12
Joubert syndrome 14
14
Joubert syndrome 15
14
Joubert syndrome 16
13
Joubert syndrome 18
14
Joubert syndrome 19
10
Joubert Syndrome 2
14
Joubert syndrome 20
11
Joubert Syndrome 21
13
Joubert Syndrome 22
10
Joubert Syndrome 23
10
Joubert Syndrome 24
12
Joubert Syndrome 25
11
Joubert Syndrome 26
6
Joubert Syndrome 27
13
Joubert Syndrome 28
12
Joubert Syndrome 3
14
Joubert Syndrome 30
11
Joubert Syndrome 31
11
Joubert Syndrome 32
7
Joubert Syndrome 33
5
Joubert syndrome 35
2
Joubert syndrome 38
1
Joubert Syndrome 4
15
Joubert syndrome 40
3
Joubert Syndrome 5
17
Joubert Syndrome 6
14
Joubert Syndrome 7
17
Joubert Syndrome 8
15
Joubert Syndrome 9
18
Juberg-Hayward syndrome
2
Junctional Epidermolysis Bullosa
6
Juvenile Amyotrophic Lateral Sclerosis
5
Juvenile arthritis
1
Juvenile GM1 Gangliosidosis
8
Juvenile Macular Degeneration And Hypotrichosis
4
Juvenile Myelomonocytic Leukemia
17
Juvenile Nephropathic Cystinosis
5
Juvenile Polyposis Syndrome
16
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
15
Juvenile Primary Lateral Sclerosis
4
Juvenile-Onset Dystonia
9
Kabuki Syndrome 1
23
Kabuki Syndrome 2
20
Kahrizi syndrome
5
Kallmann Syndrome 1
13
Kallmann Syndrome 2
19
Kallmann Syndrome 3
10
Kallmann Syndrome 4
9
Kallmann Syndrome 5
24
Kallmann Syndrome 6
15
Kanzaki Disease
5
Karyomegalic Tubulointerstitial Nephritis
3
Kaufman oculocerebrofacial syndrome
2
Kaya-Barakat-Masson syndrome
2
KBG Syndrome
12
Keipert syndrome
2
Kenny-Caffey Syndrome Type 1
7
Kenny-Caffey Syndrome Type 2
8
Keppen-Lubinsky syndrome
4
Keratitis, Hereditary
7
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
4
Keratitis-ichthyosis-deafness syndrome, autosomal recessive
3
Keratoconus 1
6
Keratoderma Palmoplantar Deafness
4
Keratoderma, palmoplantar, punctate type IA
1
Keratoendothelitis fugax hereditaria
7
Keratolytic winter erythema
1
Keratosis Follicularis
1
Keratosis Follicularis Spinulosa Decalvans
3
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
5
Keratosis Palmoplantaris Striata 1
2
Keratosis Palmoplantaris Striata 3
2
Keratosis Palmoplantaris Striata II
4
Keratosis, Seborrheic
6
Keutel Syndrome
3
Kindler's Syndrome
6
KINSSHIP syndrome
2
Kleefstra syndrome 2
3
Klein-Waardenberg's Syndrome
8
Klippel-Feil Syndrome 1, Autosomal Dominant
6
Klippel-Feil syndrome 2, autosomal recessive
4
Klippel-Feil Syndrome 3, Autosomal Dominant
5
Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism
5
Kniest Dysplasia
15
Knobloch Syndrome 1
12
Knuckle Pads, Deafness And Leukonychia Syndrome
4
Kohlschutter-Tonz syndrome
6
Kohlschutter-Tonz syndrome-like
2
Koolen-De Vries Syndrome
4
Kosaki overgrowth syndrome
7
Krabbe Disease Atypical Due To Saposin A Deficiency
7
Kury-Isidor syndrome
1
L-2-Hydroxyglutaric Aciduria
9
L-ferritin deficiency, dominant and recessive
4
Lacrimoauriculodentodigital Syndrome
22
Lactate Dehydrogenase B Deficiency
1
LADD syndrome 2
1
Lafora Disease
8
Lamb-Shaffer syndrome
2
Langer Mesomelic Dysplasia Syndrome
3
Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia
1
Laron-Type Isolated Somatotropin Defect
2
Larsen Syndrome, Dominant Type
6
Laryngoonychocutaneous Syndrome
4
Late-Onset Retinal Degeneration
5
Lateral meningocele syndrome
6
Lathosterolosis
4
Lattice Corneal Dystrophy Type 3A
2
Lattice Corneal Dystrophy Type I
2
Lattice Corneal Dystrophy Type III
2
Laurence-Moon syndrome
4
Laurin-Sandrow Syndrome
5
Leber Congenital Amaurosis 1
8
Leber Congenital Amaurosis 10
13
Leber Congenital Amaurosis 11
5
Leber Congenital Amaurosis 12
6
Leber Congenital Amaurosis 13
8
Leber Congenital Amaurosis 14
9
Leber Congenital Amaurosis 15
5
Leber Congenital Amaurosis 16
4
Leber Congenital Amaurosis 17
5
Leber Congenital Amaurosis 2
5
Leber Congenital Amaurosis 3
6
Leber Congenital Amaurosis 4
8
Leber Congenital Amaurosis 5
7
Leber Congenital Amaurosis 6
8
Leber Congenital Amaurosis 7
7
Leber Congenital Amaurosis 8
5
Leber Congenital Amaurosis 9
5
Leber congenital amaurosis with early-onset deafness
2
Leber-like hereditary optic neuropathy, autosomal recessive 1
2
Leber-like hereditary optic neuropathy, autosomal recessive 2
3
Left Ventricular Noncompaction 1
7
Left ventricular noncompaction 10
8
Left Ventricular Noncompaction 7
5
Left Ventricular Noncompaction 8
5
Legg-Calve-Perthes Disease
14
Legius Syndrome
5
Leigh Syndrome
22
Leigh Syndrome, French Canadian Type
9
Leiner Disease
2
Leiomyoma, Uterine
1
Lenz Microphthalmia Syndrome
10
Lenz-Majewski Hyperostotic Dwarfism
8
LEOPARD Syndrome
16
LEOPARD Syndrome 2
7
LEOPARD Syndrome 3
9
Leprechaunism Syndrome
6
Leprosy 2
2
Leri Weill Dyschondrosteosis
3
Lesch-Lyhan Syndrome
7
Lethal Arthrogryposis With Anterior Horn Cell Disease
5
Lethal Congenital Contractural Syndrome 3
2
Lethal Congenital Contracture Syndrome 1
6
Lethal congenital contracture syndrome 10
3
Lethal congenital contracture syndrome 11
3
Lethal Congenital Contracture Syndrome 2
2
Lethal congenital contracture syndrome 4
3
Lethal Congenital Contracture Syndrome 5
5
Lethal congenital contracture syndrome 7
5
Lethal congenital contracture syndrome 8
3
Lethal congenital contracture syndrome 9
1
Lethal Multiple Pterygium Syndrome
10
Leucine-Induced Hypoglycemia
6
Leukemia, acute lymphoblastic, susceptibility to, 3
2
Leukemia, acute promyelocytic, somatic
1
Leukemia, megakaryoblastic, with or without Down syndrome, somatic
1
Leukocyte Adhesion Deficiency Type 1
4
Leukocyte Adhesion Deficiency, Type III
4
Leukodystrophy and acquired microcephaly with or without dystonia
3
Leukodystrophy, Hypomyelinating 3
6
Leukodystrophy, hypomyelinating, 10
5
Leukodystrophy, Hypomyelinating, 11
6
Leukodystrophy, hypomyelinating, 12
4
Leukodystrophy, hypomyelinating, 13
2
Leukodystrophy, hypomyelinating, 14
3
Leukodystrophy, hypomyelinating, 15
6
Leukodystrophy, hypomyelinating, 16
2
Leukodystrophy, hypomyelinating, 17
4
Leukodystrophy, hypomyelinating, 18
4
Leukodystrophy, hypomyelinating, 19, transient infantile
1
Leukodystrophy, Hypomyelinating, 2
5
Leukodystrophy, hypomyelinating, 20
1
Leukodystrophy, hypomyelinating, 21
1
Leukodystrophy, hypomyelinating, 22
1
Leukodystrophy, hypomyelinating, 27
1
Leukodystrophy, Hypomyelinating, 4
7
Leukodystrophy, Hypomyelinating, 6
6
Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism
9
Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism
9
Leukodystrophy, Hypomyelinating, 9
6
Leukodystrophy, progressive, early childhood-onset
1
Leukoencephalopathy with Ataxia
6
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
7
Leukoencephalopathy with Dystonia and Motor Neuropathy
6
Leukoencephalopathy With Vanishing White Matter
18
Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure
1
Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure
1
Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure
1
Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure
2
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
1
Leukoencephalopathy, brain calcifications, and cysts
4
Leukoencephalopathy, Cystic, Without Megalencephaly
4
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
2
Leukoencephalopathy, Diffuse Hereditary, with Spheroids
9
Leukoencephalopathy, hereditary diffuse, with spheroids 2
2
Leukoencephalopathy, porphyria-related
2
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
3
Leukoencephalopathy, Progressive, with Ovarian Failure
7
Leukonychia Totalis
1
Lewy Body Dementia
10
Leydig Cell Hypoplasia, Type I
2
Li-Campeau syndrome
2
Li-Fraumeni Syndrome
22
Li-Fraumeni Syndrome 2
8
Li-Ghorgani-Weisz-Hubshman syndrome
1
Liang-Wang syndrome
6
Liberfarb syndrome
4
Lichtenstein-Knorr syndrome
3
Liddle Syndrome
5
Liddle syndrome 2
1
Liddle syndrome 3
1
Liebenberg Syndrome
5
Lig4 Syndrome
9
Limb-Girdle Muscular Dystrophy, Type 1A
5
Limb-Girdle Muscular Dystrophy, Type 1B
6
Limb-Girdle Muscular Dystrophy, Type 1F
5
Limb-Girdle Muscular Dystrophy, Type 2A
5
Limb-Girdle Muscular Dystrophy, Type 2B
7
Limb-Girdle Muscular Dystrophy, Type 2D
5
Limb-Girdle Muscular Dystrophy, Type 2E
5
Limb-Girdle Muscular Dystrophy, Type 2F
7
Limb-Girdle Muscular Dystrophy, Type 2G
9
Limb-Girdle Muscular Dystrophy, Type 2H
9
Limb-Girdle Muscular Dystrophy, Type 2Y
3
Limb-Mammary Syndrome
10
Linear Skin Defects with Multiple Congenital Anomalies 2
5
Linear skin defects with multiple congenital anomalies 3
5
Lipase Deficiency Combined
3
Lipid Proteinosis
1
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency
5
Lipodystrophy, Congenital Generalized, Type 3
7
Lipodystrophy, Congenital Generalized, Type 4
7
Lipodystrophy, Familial Partial, Type 2
9
Lipodystrophy, Familial Partial, Type 3
5
Lipodystrophy, Familial Partial, Type 4
3
Lipodystrophy, familial partial, type 5
3
Lipodystrophy, familial partial, type 6
4
Lipoprotein Glomerulopathy
4
Lipoyltransferase 1 Deficiency
6
Lisch epithelial corneal dystrophy
1
Lissencephaly 1
9
Lissencephaly 10
3
Lissencephaly 2
7
Lissencephaly 3
8
Lissencephaly 4
8
Lissencephaly 5
7
Lissencephaly 6, with microcephaly
7
Lissencephaly 7 with cerebellar hypoplasia
3
Lissencephaly 8
5
Lissencephaly 9 with complex brainstem malformation
5
Liver Cancer
14
Liver Failure Acute Infantile
4
Loeys-Dietz Syndrome 1
14
Loeys-Dietz Syndrome 2
16
Loeys-Dietz Syndrome 3
11
Loeys-Dietz Syndrome 4
12
Loeys-Dietz Syndrome 5
12
Loeys-Dietz syndrome 6
1
Long QT Syndrome 1
8
Long QT Syndrome 10
8
Long QT Syndrome 11
8
Long QT Syndrome 12
8
Long QT Syndrome 13
7
Long QT Syndrome 14
7
Long QT Syndrome 15
7
Long QT Syndrome 2
7
Long QT Syndrome 3
7
Long QT Syndrome 4
10
Long QT Syndrome 5
8
Long QT Syndrome 6
8
Long QT syndrome 8
8
Long QT Syndrome 9
10
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
13
Lopes-Maciel-Rodan syndrome
1
Lowe Syndrome
13
Lower urinary tract obstruction, congenital
2
Lowry-Wood syndrome
3
Lucey-Driscoll Syndrome
3
Lujan-Fryns Syndrome
15
Lung Cancer
24
Lung disease, immunodeficiency, and chromosome breakage syndrome
2
Luo-Schoch-Yamamoto syndrome
1
Luscan-Lumish Syndrome
6
Lymphangioleiomyomatosis
7
Lymphatic malformation 12
1
Lymphatic malformation 7
3
Lymphedema, Hereditary, ID
1
Lymphedema, Hereditary, III
6
Lymphedema, Primary, With Myelodysplasia
7
Lymphoproliferative Syndrome 2
3
Lymphoproliferative syndrome 3
1
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1
6
Lymphoproliferative Syndrome, X-Linked, 1
10
Lymphoproliferative Syndrome, X-Linked, 2
9
Lynch Syndrome I
17
Lynch Syndrome II
15
Lysinuric Protein Intolerance
7
Lysosomal Acid Lipase Deficiency
9
Macrocephaly, acquired, with impaired intellectual development
2
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis
6
Macrocephaly, dysmorphic facies, and psychomotor retardation
4
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
1
Macrocephaly/Autism Syndrome
14
Macrocephaly/megalencephaly syndrome, autosomal recessive
2
Macrodactyly, somatic
6
Macroglobulinemia, Waldenstrom, somatic
1
Macrothrombocytopenia And Progressive Sensorineural Deafness
2
Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related
4
Macrothrombocytopenia, isolated, 2, autosomal dominant
2
Macular Corneal Dystrophy Type I
6
Macular degeneration, age-related, 13, susceptibility to
1
Macular degeneration, age-related, 14, reduced risk of
3
Macular degeneration, age-related, 15, susceptibility to
1
Macular Degeneration, Age-Related, 2
3
Macular Degeneration, Early-Onset
5
Macular Degeneration, X-Linked Atrophic
11
Macular Dystrophy with Central Cone Involvement
8
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
3
Macular dystrophy, patterned, 3
2
Macular Dystrophy, Retinal, 2
4
Macular Dystrophy, Vitelliform, 4
6
Macular Dystrophy, Vitelliform, 5
2
Macular Dystrophy, Vitelliform, Adult-Onset
6
Majeed Syndrome
7
Malaria, Susceptibility To Malaria, Resistance To, Included
7
Malignant Hyperthermia
7
Malignant Hyperthermia Susceptibility Type 5
4
Malignant Mesothelioma
10
Malonyl-CoA Decarboxylase Deficiency
9
Malouf Syndrome
12
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
6
Mandibuloacral Dysplasia With Type A Lipodystrophy
8
Mandibuloacral Dysplasia With Type B Lipodystrophy
5
Mandibulofacial dysostosis with alopecia
1
Mandibulofacial dysostosis, Guion-Almeida type
12
Manitoba Oculotrichoanal Syndrome
12
Mannose-Binding Protein Deficiency
4
Maple Syrup Urine Disease
11
Maple syrup urine disease, mild variant
1
Maple syrup urine disease, type Ib
1
Maple syrup urine disease, type II
1
Marden Walker Like Syndrome
2
Marden-Walker Syndrome
5
Marfan lipodystrophy syndrome
16
Marfan Syndrome
22
Marinesco-Sjogren Syndrome
9
Marshall Syndrome
14
Marshall-Smith Syndrome
6
Martsolf Syndrome
9
Martsolf syndrome 2
4
MASA Syndrome
9
Masp2 Deficiency
3
Mass Syndrome
16
Mast Syndrome
4
Mastocytosis, cutaneous
4
Maturity-Onset Diabetes Of The Young, Type 1
11
Maturity-Onset Diabetes Of The Young, Type 10
7
Maturity-Onset Diabetes Of The Young, Type 11
6
Maturity-onset diabetes of the young, type 13
5
Maturity-Onset Diabetes Of The Young, Type 14
5
Maturity-Onset Diabetes Of The Young, Type 2
5
Maturity-Onset Diabetes Of The Young, Type 3
8
Maturity-Onset Diabetes Of The Young, Type 4
8
Maturity-Onset Diabetes Of The Young, Type 5
16
Maturity-Onset Diabetes Of The Young, Type 6
6
Maturity-Onset Diabetes Of The Young, Type 7
5
Maturity-Onset Diabetes Of The Young, Type 8
1
Maturity-Onset Diabetes Of The Young, Type 9
6
May-Hegglin Anomaly
12
Mccune-Albright Syndrome
1
Mckusick Kaufman Syndrome
12
McLeod Syndrome
5
Meacham Syndrome
8
Meckel Syndrome 1
15
Meckel Syndrome 10
11
Meckel syndrome 11
10
Meckel Syndrome 12
7
Meckel Syndrome 13
9
Meckel syndrome 14
1
Meckel Syndrome 2
13
Meckel Syndrome 3
13
Meckel Syndrome 4
15
Meckel Syndrome 5
16
Meckel Syndrome 6
16
Meckel Syndrome 7
12
Meckel Syndrome 8
14
Meckel Syndrome 9
14
Meconium ileus
5
MECP2 Duplication Syndrome
8
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
10
MEDNIK Syndrome
4
Medullary Cystic Kidney Disease 1
3
Medullary Cystic Kidney Disease 2
3
Medulloblastoma
19
Meesmann Corneal Dystrophy
4
Meesmann corneal dystrophy 2
1
Meester-Loeys syndrome
5
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
3
Megabladder, congenital
1
Megacystis-microcolon-intestinal hypoperistalsis syndrome
5
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
4
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
1
Megalencephalic Leukoencephalopathy With Subcortical Cysts
8
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
9
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation
9
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic
13
Megalencephaly-polydactyly syndrome
1
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
12
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
11
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
9
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
6
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
4
Megaloblastic anemia, folate-responsive
1
Megalocornea 1, X-linked
1
MEHMO Syndrome
3
Meier-Gorlin Syndrome 1
4
Meier-Gorlin Syndrome 2
4
Meier-Gorlin Syndrome 3
4
Meier-Gorlin Syndrome 4
5
Meier-Gorlin Syndrome 5
4
Meier-Gorlin syndrome 6
1
Meier-Gorlin syndrome 7
1
Melanoma Astrocytoma Syndrome
4
Melanoma, Cutaneous Malignant 2
6
Melanoma, Cutaneous Malignant 3
6
Melanoma, Cutaneous Malignant, 9
8
Melanoma, Cutaneous Malignant, Susceptibility to, 10
7
Melanoma, cutaneous malignant, susceptibility to, 8
8
Melanoma-Pancreatic Cancer Syndrome
6
Melnick-Needles Syndrome
16
Melorheostosis
2
MEND Syndrome
10
Meningioma, Familial
22
Menke-Hennekam syndrome 1
11
Menke-Hennekam syndrome 2
9
Menkes Kinky-Hair Syndrome
19
Mental Retardation 105
1
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
8
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
11
Mental Retardation With Language Impairment And Autistic Features
8
Mental Retardation, Autosomal Dominant 1
9
Mental Retardation, Autosomal Dominant 13; MRD13
12
Mental Retardation, Autosomal Dominant 18
4
Mental Retardation, Autosomal dominant 19
7
Mental Retardation, Autosomal Dominant 21
6
Mental retardation, autosomal dominant 22
5
Mental Retardation, Autosomal Dominant 23
8
Mental Retardation, Autosomal Dominant 24
6
Mental Retardation, Autosomal Dominant 26
3
Mental Retardation, Autosomal Dominant 29
7
Mental Retardation, Autosomal Dominant 30
3
Mental Retardation, Autosomal Dominant 31
8
Mental retardation, autosomal dominant 32
6
Mental retardation, autosomal dominant 33
1
Mental retardation, autosomal dominant 34
1
Mental retardation, autosomal dominant 35
4
Mental Retardation, Autosomal Dominant 36
1
Mental retardation, autosomal dominant 38
4
Mental Retardation, Autosomal Dominant 39
4
Mental retardation, autosomal dominant 40
6
Mental Retardation, Autosomal Dominant 41
4
Mental Retardation, Autosomal Dominant 42
3
Mental Retardation, Autosomal Dominant 43
3
Mental Retardation, Autosomal Dominant 44
5
Mental retardation, autosomal dominant 45
3
Mental retardation, autosomal dominant 46
3
Mental retardation, autosomal dominant 47
2
Mental retardation, autosomal dominant 48
2
Mental Retardation, Autosomal Dominant 49
5
Mental Retardation, Autosomal Dominant 5
6
Mental Retardation, Autosomal Dominant 50
5
Mental Retardation, Autosomal Dominant 51
3
Mental Retardation, Autosomal Dominant 52
5
Mental retardation, autosomal dominant 53
1
Mental retardation, autosomal dominant 54
3
Mental Retardation, Autosomal Dominant 55, with Seizures
4
Mental Retardation, Autosomal Dominant 56
5
Mental retardation, autosomal dominant 57
3
Mental retardation, autosomal dominant 58
1
Mental Retardation, Autosomal Dominant 6
12
Mental Retardation, Autosomal Dominant 7
7
Mental Retardation, Autosomal Dominant 8
6
Mental Retardation, Autosomal Dominant 9
9
Mental Retardation, Autosomal Dominant, 27
10
Mental Retardation, Autosomal Recessive 1
1
Mental Retardation, Autosomal Recessive 12
5
Mental Retardation, Autosomal Recessive 13
5
Mental Retardation, Autosomal Recessive 14
2
Mental Retardation, Autosomal Recessive 15
5
Mental Retardation, Autosomal Recessive 18
1
Mental Retardation, Autosomal Recessive 2
2
Mental Retardation, Autosomal Recessive 3
2
Mental retardation, autosomal recessive 34, with variant lissencephaly
3
Mental Retardation, Autosomal Recessive 36
3
Mental retardation, autosomal recessive 38
1
Mental retardation, autosomal recessive 40
1
Mental retardation, autosomal recessive 41
3
Mental retardation, autosomal recessive 42
5
Mental Retardation, Autosomal Recessive 43
1
Mental Retardation, Autosomal Recessive 44
1
Mental Retardation, Autosomal Recessive 46
3
Mental Retardation, Autosomal Recessive 47
2
Mental retardation, autosomal recessive 48
2
Mental retardation, autosomal recessive 49
3
Mental retardation, autosomal recessive 5
3
Mental Retardation, Autosomal Recessive 53
6
Mental retardation, autosomal recessive 55
3
Mental retardation, autosomal recessive 57
5
Mental Retardation, Autosomal Recessive 58
2
Mental Retardation, Autosomal Recessive 6
4
Mental retardation, autosomal recessive 61
1
Mental retardation, autosomal recessive 63
1
Mental retardation, autosomal recessive 64
1
Mental retardation, autosomal recessive 65
2
Mental retardation, autosomal recessive 66
1
Mental retardation, autosomal recessive 67
2
Mental retardation, autosomal recessive 68
2
Mental Retardation, Autosomal Recessive 7
4
Mental retardation, autosomal recessive, 37
3
Mental retardation, autosomal recessive, 52
1
Mental Retardation, Fra12a Type
1
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations
8
Mental Retardation, X-Linked 1/78
8
Mental Retardation, X-linked 100
3
Mental Retardation, X-linked 101
2
Mental Retardation, X-Linked 102
10
Mental Retardation, X-linked 103
2
Mental Retardation, X-linked 104
2
Mental retardation, X-linked 106
4
Mental retardation, X-linked 107
1
Mental Retardation, X-linked 12/35
3
Mental Retardation, X-Linked 19
4
Mental Retardation, X-Linked 21
5
Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type)
8
Mental Retardation, X-Linked 30
4
Mental Retardation, X-Linked 41
2
Mental Retardation, X-Linked 46
1
Mental Retardation, X-linked 49
7
Mental Retardation, X-Linked 58
1
Mental Retardation, X-linked 61
3
Mental Retardation, X-Linked 63
5
Mental Retardation, X-Linked 72
8
Mental Retardation, X-Linked 9
3
Mental Retardation, X-Linked 90
4
Mental Retardation, X-Linked 93
4
Mental Retardation, X-Linked 96
2
Mental Retardation, X-Linked 97
2
Mental Retardation, X-linked 98
6
Mental Retardation, X-linked 99
5
Mental retardation, X-linked 99, Syndromic, Female-Restricted
5
Mental retardation, X-linked syndromic, Turner type
7
Mental Retardation, X-linked, FRAXE Type
3
Mental Retardation, X-Linked, Syndromic 10
1
Mental Retardation, X-Linked, Syndromic 13
8
Mental Retardation, X-Linked, Syndromic 14
7
Mental Retardation, X-linked, Syndromic 32
1
Mental Retardation, X-linked, Syndromic 33
8
Mental Retardation, X-linked, Syndromic 34
5
Mental Retardation, X-linked, Syndromic, 35
5
Mental Retardation, X-linked, Syndromic, Bain Type
4
Mental Retardation, X-Linked, Syndromic, Christianson Type
9
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
9
Mental Retardation, X-Linked, Syndromic, Hedera Type
6
Mental retardation, X-linked, syndromic, Houge type
3
Mental Retardation, X-Linked, Syndromic, Nascimento Type
4
Mental Retardation, X-Linked, Syndromic, Raymond Type
3
Mental Retardation, X-Linked, Syndromic, Wu Type
8
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
12
Mental Retardation, X-Linked, With Panhypopituitarism
5
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
10
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1
14
Merosin Deficient Congenital Muscular Dystrophy
12
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
6
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
17
Metabolic Syndrome X
4
Metacarpal 4-5 fusion
3
Metachondromatosis
12
Metachromatic Leukodystrophy
12
Metaphyseal Anadysplasia 2
1
Metaphyseal Chondrodysplasia, Jansen Type
3
Metaphyseal Chondrodysplasia, Mckusick Type
6
Metaphyseal Chondrodysplasia, Schmid Type
3
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
1
Metaphyseal Dysplasia Without Hypotrichosis
6
Metaphyseal Dysplasia, Spahr Type
1
Metatropic Dwarfism
5
Methemoglobinemia
5
Methemoglobinemia and Ambiguous Genitalia
4
Methemoglobinemia, alpha type
2
Methemoglobinemia, beta type
1
Methionine Adenosyltransferase I/III Deficiency
6
Methylmalonate Semialdehyde Dehydrogenase Deficiency
7
Methylmalonic Aciduria and Homocystinuria, cblC Type
11
Methylmalonic Aciduria and Homocystinuria, cblD Type
11
Methylmalonic Aciduria and Homocystinuria, cblF Type
7
Methylmalonic Aciduria and Homocystinuria, cblJ Type
5
Methylmalonic Aciduria Cbla Type
7
Methylmalonic Aciduria Cblb Type
7
Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency
9
Methylmalonic Aciduria Due To Transcobalamin Receptor Defect
6
Methylmalonyl-CoA Epimerase Deficiency
5
Mevalonic Aciduria
10
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
13
Microcephalic Osteodysplastic Primordial Dwarfism Type 2
9
Microcephaly 10, primary, autosomal recessive
4
Microcephaly 11, primary, autosomal recessive
1
Microcephaly 12, primary, autosomal recessive
1
Microcephaly 13, primary, autosomal recessive
3
Microcephaly 14, primary, autosomal recessive
2
Microcephaly 15, primary, autosomal recessive
5
Microcephaly 16, primary, autosomal recessive
4
Microcephaly 18, Primary, Autosomal Dominant
2
Microcephaly 19, primary, autosomal recessive
1
Microcephaly 20, primary, autosomal recessive
5
Microcephaly 22, primary, autosomal recessive
3
Microcephaly 26, primary, autosomal dominant
1
Microcephaly 27, primary, autosomal dominant
1
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1
7
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2
6
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3
4
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation
10
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
1
Microcephaly, congenital cataract, and psoriasiform dermatitis
3
Microcephaly, developmental delay, and brittle hair syndrome
2
Microcephaly, Epilepsy, And Diabetes Syndrome
5
Microcephaly, epilepsy, and diabetes syndrome 2
1
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
5
Microcephaly, growth deficiency, seizures, and brain malformations
7
Microcephaly, growth restriction, and increased sister chromatid exchange 2
2
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
5
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy
5
Microcephaly, seizures, spasticity, and brain calcification
2
Microcephaly, short stature, and impaired glucose metabolism 1
4
Microcephaly, short stature, and impaired glucose metabolism 2
6
Microcephaly, short stature, and limb abnormalities
2
Microcephaly, short stature, and polymicrogyria with seizures
7
Microcephaly-capillary malformation syndrome
4
Microcephaly-micromelia syndrome
2
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
5
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
1
Microcytic Anemia
2
Microhydranencephaly
7
Microphthalmia Syndromic 3
18
Microphthalmia Syndromic 5
12
Microphthalmia Syndromic 6
19
Microphthalmia Syndromic 7
11
Microphthalmia Syndromic 9
5
Microphthalmia With Limb Anomalies
7
Microphthalmia, Isolated 2
5
Microphthalmia, Isolated 3
4
Microphthalmia, Isolated 4
6
Microphthalmia, Isolated 5
9
Microphthalmia, Isolated 6
4
Microphthalmia, Isolated 7
5
Microphthalmia, Isolated 8
6
Microphthalmia, Isolated, with Coloboma 10
4
Microphthalmia, Isolated, With Coloboma 3
5
Microphthalmia, Isolated, With Coloboma 5
8
Microphthalmia, Isolated, With Coloboma 6
6
Microphthalmia, isolated, with coloboma 7
5
Microphthalmia, Isolated, with Coloboma 9
3
Microphthalmia, syndromic 11
4
Microphthalmia, syndromic 12
5
Microphthalmia, Syndromic 13
4
Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome
7
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma
9
Microtia, Hearing Impairment, And Cleft Palate
2
Microvascular Complications Of Diabetes 2
3
Microvascular Complications Of Diabetes 3
3
Microvascular Complications Of Diabetes 4
1
Microvascular Complications Of Diabetes 5
1
Microvascular Complications Of Diabetes 7
1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
2
Migraine
2
Migraine, With Or Without Aura 13
1
Miller Syndrome
9
Miller-Dieker Lissencephaly Syndrome
1
Minicore Myopathy With External Ophthalmoplegia
8
MIRAGE syndrome
8
Mirror movements 2
5
Mirror movements 4
1
Mirror Movements, Congenital
3
Mismatch repair cancer syndrome 2
3
Mismatch repair cancer syndrome 3
3
Mismatch repair cancer syndrome 4
5
Mitchell syndrome
4
Mitchell-Riley syndrome
6
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
6
Mitochondrial Complex I Deficiency
24
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency
10
Mitochondrial complex I deficiency, nuclear type 10
5
Mitochondrial complex I deficiency, nuclear type 11
3
Mitochondrial complex I deficiency, nuclear type 12
7
Mitochondrial complex I deficiency, nuclear type 13
5
Mitochondrial complex I deficiency, nuclear type 14
4
Mitochondrial complex I deficiency, nuclear type 15
5
Mitochondrial complex I deficiency, nuclear type 16
8
Mitochondrial complex I deficiency, nuclear type 17
5
Mitochondrial complex I deficiency, nuclear type 18
6
Mitochondrial complex I deficiency, nuclear type 19
5
Mitochondrial complex I deficiency, nuclear type 2
5
Mitochondrial complex I deficiency, nuclear type 21
4
Mitochondrial complex I deficiency, nuclear type 22
5
Mitochondrial complex I deficiency, nuclear type 23
6
Mitochondrial complex I deficiency, nuclear type 24
3
Mitochondrial complex I deficiency, nuclear type 25
4
Mitochondrial complex I deficiency, nuclear type 26
4
Mitochondrial complex I deficiency, nuclear type 27
5
Mitochondrial complex I deficiency, nuclear type 28
3
Mitochondrial complex I deficiency, nuclear type 29
3
Mitochondrial complex I deficiency, nuclear type 3
6
Mitochondrial complex I deficiency, nuclear type 30
5
Mitochondrial complex I deficiency, nuclear type 31
3
Mitochondrial complex I deficiency, nuclear type 32
5
Mitochondrial complex I deficiency, nuclear type 33
2
Mitochondrial complex I deficiency, nuclear type 34
4
Mitochondrial complex I deficiency, nuclear type 35
2
Mitochondrial complex I deficiency, nuclear type 36
1
Mitochondrial complex I deficiency, nuclear type 37
1
Mitochondrial complex I deficiency, nuclear type 4
6
Mitochondrial complex I deficiency, nuclear type 5
5
Mitochondrial complex I deficiency, nuclear type 6
6
Mitochondrial complex I deficiency, nuclear type 7
4
Mitochondrial complex I deficiency, nuclear type 8
5
Mitochondrial complex I deficiency, nuclear type 9
4
Mitochondrial Complex II Deficiency
11
Mitochondrial complex II deficiency, nuclear type 2
2
Mitochondrial complex II deficiency, nuclear type 3
2
Mitochondrial complex II deficiency, nuclear type 4
2
Mitochondrial Complex III Deficiency
7
Mitochondrial complex III deficiency, nuclear type 10
3
Mitochondrial Complex III Deficiency, Nuclear Type 2
8
Mitochondrial Complex III Deficiency, Nuclear Type 3
6
Mitochondrial Complex III Deficiency, Nuclear Type 4
6
Mitochondrial Complex III Deficiency, Nuclear Type 5
8
Mitochondrial Complex III Deficiency, Nuclear Type 6
5
Mitochondrial Complex III Deficiency, Nuclear Type 7
6
Mitochondrial Complex III Deficiency, Nuclear Type 8
7
Mitochondrial Complex III Deficiency, Nuclear Type 9
6
Mitochondrial Complex IV Deficiency
19
Mitochondrial complex IV deficiency, nuclear type 10
2
Mitochondrial complex IV deficiency, nuclear type 11
4
Mitochondrial complex IV deficiency, nuclear type 12
3
Mitochondrial complex IV deficiency, nuclear type 14
2
Mitochondrial complex IV deficiency, nuclear type 15
2
Mitochondrial complex IV deficiency, nuclear type 16
3
Mitochondrial complex IV deficiency, nuclear type 17
3
Mitochondrial complex IV deficiency, nuclear type 18
1
Mitochondrial complex IV deficiency, nuclear type 19
1
Mitochondrial complex IV deficiency, nuclear type 20
1
Mitochondrial complex IV deficiency, nuclear type 21
3
Mitochondrial complex IV deficiency, nuclear type 22
1
Mitochondrial complex IV deficiency, nuclear type 3
3
Mitochondrial complex IV deficiency, nuclear type 4
3
Mitochondrial complex IV deficiency, nuclear type 7
4
Mitochondrial complex IV deficiency, nuclear type 8
5
Mitochondrial complex V (ATP synthase) deficiency
5
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1
6
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2
12
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3
6
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4
5
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6
2
Mitochondrial DNA depletion syndrome 11
11
Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type)
9
Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type) AD
8
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
15
Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type)
8
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
3
Mitochondrial DNA depletion syndrome 16 (hepatic type)
8
Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)
6
Mitochondrial DNA depletion syndrome 17
2
Mitochondrial DNA depletion syndrome 18
3
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)
17
Mitochondrial DNA depletion syndrome 20 (MNGIE type)
1
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type
16
Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria)
16
Mitochondrial DNA Depletion Syndrome 7
16
Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic With Methylmalonic Aciduria)
13
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy
13
Mitochondrial DNA-Depletion Syndrome 3, Hepatocerebral
10
Mitochondrial myopathy with lactic acidosis
6
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
6
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome
14
Mitochondrial Phosphate Carrier Deficiency
7
Mitochondrial Pyruvate Carrier Deficiency
6
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
7
Mitochondrial trifunctional protein deficiency 2
2
Mitral valve prolapse 2
5
Mitral valve prolapse 3
1
Miyoshi Muscular Dystrophy 3
7
Miyoshi Myopathy
6
Mohr-Tranebjaerg Syndrome
11
Molybdenum Cofactor Deficiency C
6
Molybdenum Cofactor Deficiency Type A
18
Molybdenum Cofactor Deficiency Type B
7
Monoamine Oxidase A Deficiency
5
Monocarboxylate Transporter 1 Deficiency
5
Mononeuropathy Of The Median Nerve, Mild
2
Monosomy 7 myelodysplasia and leukemia syndrome 1
3
Monosomy 7 myelodysplasia and leukemia syndrome 2
3
Morbid obesity and spermatogenic failure
1
MORM Syndrome
13
Morquio Syndrome A
5
Mosaic Variegated Aneuploidy Syndrome
6
Mosaic Variegated Aneuploidy Syndrome 2
2
Mosaic Variegated Aneuploidy Syndrome 3
4
Mowat-Wilson Syndrome
15
Moyamoya 6 with achalasia
3
Moyamoya Disease 2
1
Moyamoya Disease 5
8
Mucocutaneous ulceration, chronic
2
Mucolipidosis III Gamma
9
Mucopolysaccharidosis Type IX
3
Mucopolysaccharidosis Type VI
4
Mucopolysaccharidosis Type VII
7
Mucopolysaccharidosis, MPS-I-H/S
7
Mucopolysaccharidosis, MPS-I-S
7
Mucopolysaccharidosis, MPS-II
7
Mucopolysaccharidosis, MPS-III-A
8
Mucopolysaccharidosis, MPS-III-B
8
Mucopolysaccharidosis, MPS-III-C
8
Mucopolysaccharidosis, MPS-III-D
8
Mucopolysaccharidosis, MPS-IV-B
8
Mucopolysaccharidosis-plus syndrome
4
Muenke Syndrome
14
Muir-Torre Syndrome
13
Mulibrey Nanism Syndrome
4
Mullerian Aplasia And Hyperandrogenism
8
Multicentric carpotarsal osteolysis syndrome
6
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
4
Multiple Carboxylase Deficiency, Juvenile Onset
8
Multiple Carboxylase Defiency, Early Onset
7
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
11
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
16
Multiple congenital anomalies-hypotonia-seizures syndrome 3
6
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
3
Multiple Cutaneous And Mucosal Venous Malformations
1
Multiple Endocrine Neoplasia, Type 1
4
Multiple Endocrine Neoplasia, Type 2A
8
Multiple Endocrine Neoplasia, Type 2B
8
Multiple Endocrine Neoplasia, Type IV
3
Multiple Epiphyseal Dysplasia 1
5
Multiple Epiphyseal Dysplasia 2
9
Multiple Epiphyseal Dysplasia 3
7
Multiple Epiphyseal Dysplasia 4
8
Multiple Epiphyseal Dysplasia 5
5
Multiple Epiphyseal Dysplasia 6
10
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects
7
Multiple Mitochondrial Dysfunctions Syndrome 1
6
Multiple Mitochondrial Dysfunctions Syndrome 2
8
Multiple Mitochondrial Dysfunctions Syndrome 3
6
Multiple Mitochondrial Dysfunctions Syndrome 4
7
Multiple mitochondrial dysfunctions syndrome 5
2
Multiple mitochondrial dysfunctions syndrome 6
4
Multiple mitochondrial dysfunctions syndrome 7
1
Multiple Myeloma
6
Multiple Sclerosis Susceptibility
2
Multiple sclerosis, susceptibility to, 5
4
Multiple Self Healing Squamous Epithelioma
8
Multiple Sulfatase Deficiency
8
Multiple Synostoses Syndrome 1
6
Multiple Synostoses Syndrome 2
6
Multiple Synostoses Syndrome 3
1
Multiple synostoses syndrome 4
4
Multiple system atrophy, susceptibility to
8
Multisystemic Smooth Muscle Dysfunction Syndrome
8
Mungan syndrome
9
Muscle Eye Brain Disease
15
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
2
Muscular dystrophy, congenital, Davignon-Chauveau type
4
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
5
Muscular Dystrophy, Congenital, LMNA-Related
11
Muscular Dystrophy, Congenital, Megaconial Type
8
Muscular dystrophy, congenital, with cataracts and intellectual disability
4
Muscular dystrophy, congenital, with or without seizures
2
Muscular Dystrophy, Limb Girdle, Type 2C
8
Muscular dystrophy, limb-girdle, autosomal dominant 4
1
Muscular dystrophy, limb-girdle, autosomal recessive 21
2
Muscular dystrophy, limb-girdle, autosomal recessive 23
5
Muscular dystrophy, limb-girdle, autosomal recessive 26
1
Muscular dystrophy, limb-girdle, autosomal recessive 27
1
Muscular dystrophy, limb-girdle, autosomal recessive 28
1
Muscular Dystrophy, Limb-Girdle, Type 1C
5
Muscular Dystrophy, Limb-Girdle, Type 1G
3
Muscular Dystrophy, Limb-Girdle, Type 2J
6
Muscular Dystrophy, Limb-Girdle, Type 2L
8
Muscular Dystrophy, Limb-Girdle, Type 2Q
8
Muscular dystrophy, limb-girdle, type 2R
2
Muscular dystrophy, limb-girdle, type 2S
8
Muscular Dystrophy, Limb-Girdle, Type 2W
4
Muscular dystrophy, limb-girdle, type 2X
2
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 10; MDDGA10
9
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
13
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
11
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
13
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
15
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
15
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
10
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
2
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1
12
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
10
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2
10
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3
13
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6
11
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4
14
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
5
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
11
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
7
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
11
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
10
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
12
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
12
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
12
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
7
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
8
Myasthenia, Limb-Girdle, Familial
5
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
3
Myasthenic syndrome, congenital, 14, with tubular aggregates
7
Myasthenic Syndrome, Congenital, 15, without Tubular Aggregates
5
Myasthenic Syndrome, Congenital, 17
4
Myasthenic Syndrome, Congenital, 18
5
Myasthenic Syndrome, Congenital, 19
4
Myasthenic syndrome, congenital, 20, presynaptic
6
Myasthenic syndrome, congenital, 21, presynaptic
4
Myasthenic syndrome, congenital, 22
3
Myasthenic syndrome, congenital, 23, presynaptic
6
Myasthenic syndrome, congenital, 24, presynaptic
3
Myasthenic syndrome, congenital, 25
4
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
4
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
3
Myasthenic syndrome, congenital, 3A, slow-channel
3
Myasthenic syndrome, congenital, 3B, fast-channel
4
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
3
Myasthenic syndrome, congenital, 4A, slow-channel
4
Myasthenic syndrome, congenital, 4B, fast-channel
4
Myasthenic Syndrome, Congenital, 7, Presynaptic
6
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
1
Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects
3
Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency
3
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
7
Myasthenic Syndrome, Congenital, Fast-Channel
7
Myasthenic Syndrome, Congenital, Slow-Channel
8
Myasthenic syndrome, congenital, with tubular aggregates 2
7
Mycobacterial And Viral Infections, Susceptibility To, Autosomal Recessive
5
Mycobacterium Tuberculosis, Susceptibility To
3
Myd88 Deficiency
2
Myelodysplastic Syndrome
12
Myelofibrosis
4
Myeloperoxidase Deficiency
2
Myeloproliferative Disorder, Chronic, With Eosinophilia
5
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to
6
Myh-Associated Polyposis
8
Myhre Syndrome
10
Myocardial Infarction 1
8
Myoclonic Dystonia
6
Myoclonic epilepsy of Lafora 2
2
Myoclonic Epilepsy, Familial Infantile
10
Myoclonic-Atonic Epilepsy
8
Myoclonus, familial, 1
1
Myoclonus, familial, 2
6
Myoclonus, Intractable, Neonatal
5
Myofibrillar myopathy 11
1
Myofibrillar Myopathy, BAG3-Related
10
Myofibrillar Myopathy, Desmin-Related
6
Myofibrillar Myopathy, Filamin C-Related
6
Myofibrillar Myopathy, ZASP-Related
9
Myofibromatosis, Infantile, 1
7
Myofibromatosis, Infantile, 2
5
Myoglobinuria, Acute Recurrent, Autosomal Recessive
8
Myopathy due to Myoadenylate Deaminase Deficiency
3
Myopathy with Extrapyramidal Signs
6
Myopathy With Lactic Acidosis, Hereditary
5
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
2
Myopathy, Centronuclear
4
Myopathy, Centronuclear, 1
6
Myopathy, Centronuclear, 3
1
Myopathy, congenital proximal, with minicore lesions
1
Myopathy, congenital with structured cores and Z-line abnormalities
2
Myopathy, Congenital, Compton-North
5
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
3
Myopathy, congenital, with respiratory insufficiency and bone fractures
1
Myopathy, congenital, with tremor
2
Myopathy, Distal, 1
6
Myopathy, Distal, 2
7
Myopathy, Distal, 4
6
Myopathy, distal, 5
3
Myopathy, distal, 6, adult onset
2
Myopathy, distal, 7, adult-onset, X-linked
1
Myopathy, Distal, Tateyama Type
4
Myopathy, Distal, With Anterior Tibial Onset
5
Myopathy, distal, with rimmed vacuoles
5
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
5
Myopathy, Early-Onset, With Fatal Cardiomyopathy
4
Myopathy, epilepsy, and progressive cerebral atrophy
3
Myopathy, isolated mitochondrial, autosomal dominant
4
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
4
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
5
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
1
Myopathy, myofibrillar, 7
3
Myopathy, myofibrillar, 8
3
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
6
Myopathy, Myosin Storage
5
Myopathy, Myosin Storage, Autosomal Recessive
4
Myopathy, Reducing Body, X-Linked, Childhood-Onset
4
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
4
Myopathy, sarcoplasmic body
1
Myopathy, scapulohumeroperoneal
1
Myopathy, tubular aggregate
8
Myopathy, tubular aggregate, 2
2
Myopathy, vacuolar, with CASQ1 aggregates
2
Myopathy, X-linked, with excessive autophagy
4
Myopathy, X-Linked, With Postural Muscle Atrophy
5
Myopia 21, Autosomal Dominant
1
Myopia 22, autosomal dominant
1
Myopia 23, autosomal recessive
1
Myopia 24, autosomal dominant
1
Myopia 25, autosomal dominant
1
Myopia 26, X-linked, female-limited
1
Myopia 27
1
Myopia 6
9
Myopia, High, with Cataract And Vitreoretinal Degeneration
6
Myosclerosis, Autosomal Recessive
3
Myotilinopathy
5
Myotonia Congenita Autosomal Recessive
3
N-Acetylaspartate Deficiency
3
Nabais Sa-de Vries syndrome, type 1
1
Nabais Sa-de Vries syndrome, type 2
1
Naegeli-Franceschetti-Jadassohn Syndrome
2
Nail Disorder, Nonsyndromic Congenital, 8
5
Nail-Patella Syndrome
8
Nance-Horan Syndrome
10
Nanophthalmos 2
5
Nanophthalmos 4
2
Nasopharyngeal Carcinoma
2
Native American myopathy
6
Navajo Neurohepatopathy
10
Naxos Disease
6
Nemaline Myopathy 1
5
Nemaline Myopathy 10
4
Nemaline myopathy 11, autosomal recessive
5
Nemaline Myopathy 2
9
Nemaline Myopathy 3
6
Nemaline Myopathy 4
6
Nemaline Myopathy 5
5
Nemaline Myopathy 6
5
Nemaline Myopathy 7
5
Nemaline Myopathy 8
7
Nemaline Myopathy 9
5
Neoplasm Of Ovary
15
Neoplasm Of Stomach
13
Nephrogenic Syndrome Of Inappropriate Antidiuresis
5
Nephrolithiasis, Calcium Oxalate
3
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
7
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
5
Nephronophthisis
13
Nephronophthisis 11
11
Nephronophthisis 12
11
Nephronophthisis 13
8
Nephronophthisis 14
11
Nephronophthisis 15
14
Nephronophthisis 16
8
Nephronophthisis 18
6
Nephronophthisis 19
7
Nephronophthisis 20
2
Nephronophthisis 4
9
Nephronophthisis 7
7
Nephronophthisis 9
10
Nephronophthisis-Like Nephropathy 1
7
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
1
Nephrotic Syndrome, Idiopathic, Steroid-Resistant
3
Nephrotic Syndrome, Type 10
3
Nephrotic Syndrome, Type 11
6
Nephrotic Syndrome, Type 12
3
Nephrotic Syndrome, Type 13
3
Nephrotic Syndrome, Type 14
5
Nephrotic Syndrome, Type 15
4
Nephrotic syndrome, type 16
1
Nephrotic syndrome, type 17
1
Nephrotic syndrome, type 18
3
Nephrotic syndrome, type 19
2
Nephrotic syndrome, type 20
2
Nephrotic syndrome, type 21
3
Nephrotic Syndrome, Type 3
5
Nephrotic syndrome, type 4
10
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
8
Nephrotic Syndrome, Type 6
2
Nephrotic Syndrome, Type 7
8
Nephrotic Syndrome, Type 8
2
Nephrotic syndrome, type 9
6
Nestor-Guillermo Progeria Syndrome
1
Netherton Syndrome
6
Neu-Laxova syndrome 1
10
Neu-Laxova syndrome 2
7
Neural Tube Defects
2
Neural Tube Defects, Folate-Sensitive
9
Neuroblastoma 1
8
Neuroblastoma 2
5
Neuroblastoma 3
5
Neurocutaneous melanosis, somatic
7
Neurodegeneration and seizures due to copper transport defect
1
Neurodegeneration with ataxia and late-onset optic atrophy
5
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
4
Neurodegeneration With Brain Iron Accumulation 1
6
Neurodegeneration With Brain Iron Accumulation 2B
6
Neurodegeneration With Brain Iron Accumulation 4
7
Neurodegeneration With Brain Iron Accumulation 5
12
Neurodegeneration With Brain Iron Accumulation 6
5
Neurodegeneration with brain iron accumulation 7
1
Neurodegeneration with brain iron accumulation 8
2
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
1
Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
4
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
3
Neurodegeneration, childhood-onset, with brain atrophy
4
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
1
Neurodegeneration, childhood-onset, with cerebellar atrophy
3
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
3
Neurodegeneration, childhood-onset, with progressive microcephaly
1
Neurodegeneration, infantile-onset, biotin-responsive
3
Neurodevelopmental disorder and language delay with or without structural brain abnormalities
3
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
3
Neurodevelopmental disorder plus optic atrophy
2
Neurodevelopmental disorder with absent language and variable seizures
2
Neurodevelopmental disorder with alopecia and brain abnormalities
3
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
1
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
2
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
1
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
2
Neurodevelopmental disorder with central and peripheral motor dysfunction
2
Neurodevelopmental disorder with central hypotonia and dysmorphic facies
1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
5
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
1
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
2
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
5
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
3
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
2
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
1
Neurodevelopmental disorder with dysmorphic facies and variable seizures
1
Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
1
Neurodevelopmental disorder with dystonia and seizures
1
Neurodevelopmental disorder with epilepsy and brain atrophy
1
Neurodevelopmental disorder with epilepsy and hemochromatosis
3
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
2
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
3
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
4
Neurodevelopmental disorder with eye movement abnormalities and ataxia
2
Neurodevelopmental disorder with hearing loss and spasticity
2
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
2
Neurodevelopmental disorder with hypotonia and brain abnormalities
2
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
3
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
1
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
1
Neurodevelopmental disorder with hypotonia and seizures
1
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
3
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
3
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
4
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
5
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language
3
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
2
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
1
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
3
Neurodevelopmental disorder with infantile epileptic spasms
2
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
2
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
1
Neurodevelopmental Disorder with Involuntary Movements
7
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
1
Neurodevelopmental disorder with language delay and seizures
2
Neurodevelopmental disorder with language impairment and behavioral abnormalities
3
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
1
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
1
Neurodevelopmental disorder with microcephaly, ataxia, and seizures
2
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
1
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
4
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy
3
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
4
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
1
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
1
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive
3
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant
3
Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
1
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
1
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
2
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
1
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
1
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
3
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
5
Neurodevelopmental disorder with or without autism or seizures
1
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
2
Neurodevelopmental disorder with or without early-onset generalized epilepsy
2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
6
Neurodevelopmental disorder with or without seizures and gait abnormalities
3
Neurodevelopmental disorder with or without variable brain abnormalities
3
Neurodevelopmental disorder with poor growth and skeletal anomalies
2
Neurodevelopmental disorder with poor language and loss of hand skills
4
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
5
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
2
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
6
Neurodevelopmental disorder with seizures and brain abnormalities
2
Neurodevelopmental disorder with seizures and brain atrophy
1
Neurodevelopmental disorder with seizures and gingival overgrowth
1
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
3
Neurodevelopmental disorder with seizures and speech and walking impairment
3
Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities
1
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
1
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
1
Neurodevelopmental disorder with severe motor impairment and absent language
2
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
1
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
1
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
1
Neurodevelopmental disorder with spasticity and poor growth
2
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
1
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
1
Neurodevelopmental disorder with speech impairment and dysmorphic facies
1
Neurodevelopmental disorder with speech impairment and with or without seizures
1
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
4
Neurodevelopmental disorder with visual defects and brain anomalies
6
Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities
3
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
5
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities
8
Neurodevelopmental, jaw, eye, and digital syndrome
2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
2
Neuroferritinopathy
6
Neurofibromatosis, Familial Spinal
19
Neurofibromatosis, Type 1
26
Neurofibromatosis, Type 2
5
Neurofibromatosis-Noonan Syndrome
21
Neuromuscular disease and ocular or auditory anomalies with or without seizures
1
Neuromyotonia and axonal neuropathy, autosomal recessive
4
Neuronopathy, Distal Hereditary Motor, Type VIIB
9
Neuronopathy, distal hereditary motor, autosomal dominant 10
1
Neuronopathy, distal hereditary motor, autosomal dominant 11
2
Neuronopathy, distal hereditary motor, autosomal recessive 10
3
Neuronopathy, distal hereditary motor, autosomal recessive 6
1
Neuronopathy, distal hereditary motor, autosomal recessive 7
2
Neuronopathy, distal hereditary motor, autosomal recessive 9
1
Neuronopathy, Distal Hereditary Motor, Type IIC
2
Neuronopathy, Distal Hereditary Motor, Type IID
4
Neuronopathy, distal hereditary motor, type IX
2
Neuronopathy, Distal Hereditary Motor, Type VB
6
Neuronopathy, Distal Hereditary Motor, Type VIIA
9
Neurooculocardiogenitourinary syndrome
8
Neuropathy, distal hereditary motor, type VC
5
Neuropathy, Hereditary Motor and Sensory, Okinawa Type
7
Neuropathy, Hereditary Motor and Sensory, Russe Type
5
Neuropathy, Hereditary Motor and Sensory, Type VIA
13
Neuropathy, Hereditary Motor and Sensory, Type VIB
9
Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
3
Neuropathy, Hereditary Sensory And Autonomic, Type 1A
7
Neuropathy, Hereditary Sensory And Autonomic, Type IC
7
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
7
Neuropathy, Hereditary Sensory And Autonomic, Type IIB
3
Neuropathy, Hereditary Sensory And Autonomic, Type V
4
Neuropathy, Hereditary Sensory and Autonomic, Type VI
5
Neuropathy, Hereditary Sensory and Autonomic, Type VII
4
Neuropathy, Hereditary Sensory and Autonomic, Type VIII
4
Neuropathy, Hereditary Sensory, Type ID
5
Neuropathy, Hereditary Sensory, Type IE
8
Neuropathy, Hereditary Sensory, Type IF
4
Neuropathy, Hereditary Sensory, Type IIC
10
Neuropathy, Hereditary Sensory, With Spastic Paraplegia
6
Neuropathy, Hereditary, with or without Age-Related Macular Degeneration
9
Neuropathy, inflammatory demyelinating
1
Neutral Lipid Storage Disease With Myopathy
7
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
6
Neutropenia, Severe Congenital, 2, Autosomal Dominant
6
Neutropenia, Severe Congenital, 4, Autosomal Recessive
7
Neutropenia, Severe Congenital, 5, Autosomal Recessive
6
Neutropenia, Severe Congenital, 6, Autosomal Recessive
5
Neutropenia, severe congenital, 7, autosomal recessive
4
Neutropenia, severe congenital, 8, autosomal dominant
5
Neutropenia, severe congenital, 9, autosomal dominant
2
Neutrophil Immunodeficiency Syndrome
4
Neutrophilic dermatosis, acute febrile
1
Nevus comedonicus, somatic
3
Newfoundland Rod-Cone Dystrophy
5
Nicolaides-Baraitser Syndrome
7
Niemann-Pick Disease Type C1
9
Niemann-Pick Disease Type C2
9
Niemann-Pick Disease, Type A
13
Niemann-Pick Disease, Type B
14
Night Blindness, Congenital Stationary, Nougaret Type
4
Night Blindness, Congenital Stationary, Rambusch Type
8
Night Blindness, Congenital Stationary, Rhodopsin-Related
6
Night Blindness, Congenital Stationary, Type 1A
5
Night Blindness, Congenital Stationary, Type 1B
5
Night Blindness, Congenital Stationary, Type 1C
4
Night Blindness, Congenital Stationary, Type 1D
6
Night Blindness, Congenital Stationary, Type 1E
4
Night Blindness, Congenital Stationary, Type 1F
5
Night Blindness, Congenital Stationary, Type 1G
4
Night blindness, congenital stationary, type 1H
3
Night blindness, congenital stationary, type 1I
2
Night Blindness, Congenital Stationary, Type 2A
7
Night Blindness, Congenital Stationary, Type 2B
7
Nijmegen Breakage Syndrome
12
Nijmegen Breakage Syndrome-Like Disorder
8
Nizon-Isidor syndrome
2
Non-Herlitz Junctional Epidermolysis Bullosa
11
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
3
Noonan Syndrome 1
17
Noonan Syndrome 10
8
Noonan syndrome 11
5
Noonan syndrome 12
2
Noonan syndrome 13
2
Noonan syndrome 2
7
Noonan Syndrome 3
12
Noonan Syndrome 4
12
Noonan Syndrome 5
9
Noonan Syndrome 6
13
Noonan Syndrome 7
11
Noonan Syndrome 8
9
Noonan Syndrome 9
7
Noonan syndrome-like disorder with loose anagen hair 2
9
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
12
Noonan-Like Syndrome With Loose Anagen Hair
9
Norrie Disease
11
Norum Disease
5
Nystagmus 6, Congenital, X-Linked
5
O'Donnell-Luria-Rodan syndrome
4
Obesity
14
Obesity
1
Obesity, Hyperphagia, And Developmental Delay
5
Obesity, Morbid, Due to Leptin Deficiency
8
Obesity, Morbid, Due to Leptin Receptor Deficiency
8
Obesity, susceptibility to, BMIQ14
2
Obesity, susceptibility to, BMIQ18
1
Obesity, susceptibility to, BMIQ19
1
Occipital Horn Syndrome
19
Occult Macular Dystrophy
4
Ocular Albinism, Type I
5
Oculoauricular Syndrome
4
Oculocutaneous Albinism Type 1A
6
Oculocutaneous Albinism Type 1B
6
Oculocutaneous Albinism Type 3
4
Oculocutaneous Albinism Type IV
4
Oculocutaneous albinism, type VIII
1
Oculodentodigital Dysplasia
16
Oculodentodigital Dysplasia, Autosomal Recessive
14
Oculoectodermal syndrome, somatic
9
Oculofaciocardiodental Syndrome
18
Oculomaxillofacial Dysostosis
5
Oculopharyngeal Muscular Dystrophy
2
Oculoskeletodental syndrome
1
Odontoonychodermal Dysplasia
2
Ogden Syndrome
10
Oguchi Disease 2
4
Oguchi's Disease
4
OHDO Syndrome, X-linked; OHDOX
14
Okur-Chung neurodevelopmental syndrome
2
Oligodontia-Colorectal Cancer Syndrome
6
Oliver-McFarlane syndrome
4
Olmsted syndrome, X-linked
5
Omenn Syndrome
9
Omodysplasia 1
3
Omodysplasia 2
2
Ondontochondrodysplasia 2 with hearing loss and diabetes
1
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
2
Oocyte Maturation Defect
3
Oocyte/zygote/embryo maturation arrest 17
1
Oocyte/zygote/embryo maturation arrest 9
1
Ophthalmoplegia, external, with rib and vertebral anomalies
1
Opitz G/BBB Syndrome, Type I
13
Opitz GBBB syndrome, type II
9
Opsismodysplasia
4
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures
7
Optic atrophy 11
4
Optic atrophy 12
5
Optic atrophy 13 with retinal and foveal abnormalities
3
Optic atrophy 14
2
Optic atrophy 15
2
Optic atrophy 16
1
Optic atrophy 5
9
Optic Atrophy 7
6
Optic atrophy 9
8
Optic Atrophy And Cataract, Autosomal Dominant
11
Optic Atrophy Type 1
13
Optic Disc Anomalies with Retinal and/or Macular Dystrophy
6
Optic Nerve Hypoplasia, Bilateral
11
Oral-Facial-Digital Syndrome
18
Ornithine Carbamoyltransferase Deficiency
10
Orofacial Cleft 10
1
Orofacial Cleft 11
12
Orofacial cleft 15
1
Orofacial Cleft 5
4
Orofacial Cleft 6, Susceptibility To
6
Orofacial cleft 8
8
Orofaciodigital Syndrome IV
11
Orofaciodigital Syndrome V
3
Orofaciodigital syndrome VI
10
Orofaciodigital Syndrome XIV
6
Orofaciodigital syndrome XV
2
Orofaciodigital Syndrome XVI
8
Orofaciodigital syndrome XVII
6
Orofaciodigital syndrome XVIII
1
Orotic Aciduria
3
Orthostatic hypotension 2
2
Orthostatic Intolerance
1
Osler Hemorrhagic Telangiectasia Syndrome
7
Osteitis Deformans
9
Osteoarthritis Of Distal Interphalangeal Joint
3
Osteoarthritis Of Hip
4
Osteoarthritis With Mild Chondrodysplasia
14
Osteochondritis Dissecans
2
Osteochondrodysplasia
3
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
5
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
7
Osteodysplastic Primordial Dwarfism, Type 1
4
Osteofibrous dysplasia, susceptibility to
1
Osteogenesis imperfecta 21
2
Osteogenesis Imperfecta Type III
11
Osteogenesis Imperfecta, Type I
11
Osteogenesis Imperfecta, Type II
11
Osteogenesis Imperfecta, Type IV
11
Osteogenesis Imperfecta, Type IX
5
Osteogenesis imperfecta, type V
7
Osteogenesis Imperfecta, Type VI
8
Osteogenesis Imperfecta, Type VII
8
Osteogenesis Imperfecta, Type VIII
8
Osteogenesis Imperfecta, Type X
7
Osteogenesis Imperfecta, Type XI
7
Osteogenesis Imperfecta, Type XII
6
Osteogenesis Imperfecta, Type XIII
7
Osteogenesis Imperfecta, Type XIV
6
Osteogenesis imperfecta, type XIX
4
Osteogenesis Imperfecta, Type XV
7
Osteogenesis imperfecta, type XVI
1
Osteogenesis Imperfecta, Type XVII
8
Osteogenesis imperfecta, type XVIII
6
Osteogenesis imperfecta, type XX
2
Osteoglophonic Dysplasia
15
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
2
Osteootohepatoenteric syndrome
1
Osteopathia Striata With Cranial Sclerosis
6
Osteopetrosis Autosomal Dominant Type 1
9
Osteopetrosis Autosomal Dominant Type 2
6
Osteopetrosis Autosomal Recessive 1
7
Osteopetrosis Autosomal Recessive 2
5
Osteopetrosis Autosomal Recessive 4
6
Osteopetrosis Autosomal Recessive 5
5
Osteopetrosis Autosomal Recessive 7
9
Osteopetrosis With Renal Tubular Acidosis
8
Osteopetrosis, Autosomal Recessive 8
5
Osteoporosis
13
Osteoporosis With Pseudoglioma
5
Osteoporosis, early-onset, susceptibility to, autosomal dominant
3
Osteosarcoma
4
Otitis media, susceptibility to
3
Oto-Palato-Digital Syndrome Type 1
18
Oto-Palato-Digital Syndrome, Type II
19
Otofaciocervical Syndrome
7
Otofaciocervical syndrome 2
3
Otosclerosis 12
1
Otospondylomegaepiphyseal Dysplasia
12
Ovalocytosis
1
Ovalocytosis, SA type
3
Ovarian Dysgenesis 1
6
Ovarian Dysgenesis 2
6
Ovarian Dysgenesis 3
5
Ovarian Dysgenesis 4
5
Ovarian Dysgenesis 5
2
Ovarian dysgenesis 6
1
Ovarian dysgenesis 7
4
Ovarian dysgenesis 8
1
Ovarian Hyperstimulation Syndrome
4
P Phenotype
1
Pachydermoperiostosis
4
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
3
Paganini-Miozzo syndrome
2
Paget Disease of Bone 3
7
Pallister-Hall Syndrome
18
Palmoplantar carcinoma, multiple self-healing
2
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,XX Sex Reversal
5
Palmoplantar Keratoderma and Woolly Hair
3
Palmoplantar keratoderma with congenital alopecia
9
Palmoplantar Keratoderma, Epidermolytic
5
Palmoplantar Keratoderma, Nonepidermolytic
3
Pancreatic agenesis 2
6
Pancreatic agenesis and congenital heart defects
7
Pancreatic Agenesis, Congenital
6
Pancreatic Cancer
14
Pancreatic Cancer 1
2
Pancreatic Cancer 2
15
Pancreatic Cancer 3
13
Pancreatic Cancer 4
14
Pancreatic Lipase Deficiency
1
Pancreatitis, Chronic
11
Panhypopituitarism X-Linked
10
Papillon-Lefevre Syndrome
7
Papillorenal Syndrome
10
Paraganglioma And Gastric Stromal Sarcoma
11
Paragangliomas 1
9
Paragangliomas 2
5
Paragangliomas 3
8
Paragangliomas 4
11
Paragangliomas 5
14
Paragangliomas 6
1
Paragangliomas 7
4
Paramyotonia Congenita Of Von Eulenburg
4
Parastremmatic Dwarfism
5
Parathyroid Carcinoma
6
Parenti-Mignot neurodevelopmental syndrome
2
Parietal Foramina
5
Parietal Foramina 2
4
Parietal Foramina With Cleidocranial Dysplasia
5
Parkinson Disease 1
6
Parkinson Disease 11
3
Parkinson Disease 13
10
Parkinson Disease 14
6
Parkinson Disease 15
4
Parkinson Disease 17
3
Parkinson Disease 18
3
Parkinson Disease 19
6
Parkinson Disease 2
6
Parkinson Disease 20
8
Parkinson disease 22, autosomal dominant
3
Parkinson disease 23, autosomal recessive, early onset
4
Parkinson Disease 4
6
Parkinson Disease 5
5
Parkinson Disease 6, Autosomal Recessive Early-Onset
6
Parkinson Disease 7
4
Parkinson Disease 8
6
Parkinson's Disease
9
Parkinson-Dementia Syndrome
4
Parkinsonism with Spasticity, X-Linked
7
Parkinsonism-dystonia 3, childhood-onset
1
Parkinsonism-dystonia, infantile, 2
4
Paroxysmal Choreoathetosis
6
Paroxysmal Extreme Pain Disorder
5
Paroxysmal Familial Ventricular Fibrillation
2
Paroxysmal Nocturnal Hemoglobinuria
14
Paroxysmal nocturnal hemoglobinuria 2
5
Partial Albinism
8
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome
8
Partington X-Linked Mental Retardation Syndrome
12
Patent ductus arteriosus 2
5
Patent ductus arteriosus 3
2
Patterned Dystrophy Of Retinal Pigment Epithelium
7
Peeling Skin Syndrome, Acral Type
3
PEHO syndrome
4
PEHO syndrome-like
1
Pelger-Huet Anomaly
8
Pelger-Huet anomaly with mild skeletal anomalies
7
Pelizaeus-Merzbacher Disease
9
Pendred Syndrome
4
Periodic fever, immunodeficiency, and thrombocytopenia syndrome
3
Periodic fever, menstrual cycle dependent
3
Periodontitis, Aggressive, 1
5
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
14
Peripheral motor neuropathy, childhood-onset, biotin-responsive
1
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
3
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
4
Periventricular nodular heterotopia 6
2
Periventricular Nodular Heterotopia 7
10
Periventricular nodular heterotopia 8
3
Periventricular nodular heterotopia 9
5
Perlman Syndrome
9
Permanent Neonatal Diabetes Mellitus
6
Peroxisomal Acyl-CoA Oxidase Deficiency
8
Peroxisomal fatty acyl-CoA reductase 1 disorder
5
Peroxisome biogenesis disorder 10A (Zellweger)
15
Peroxisome biogenesis disorder 10B
11
Peroxisome biogenesis disorder 11A (Zellweger)
14
Peroxisome biogenesis disorder 11B
13
Peroxisome biogenesis disorder 12A (Zellweger)
13
Peroxisome biogenesis disorder 13A (Zellweger)
13
Peroxisome Biogenesis Disorder 14B
13
Peroxisome biogenesis disorder 1A (Zellweger)
19
Peroxisome biogenesis disorder 1B (NALD/IRD)
16
Peroxisome biogenesis disorder 2A (Zellweger)
15
Peroxisome biogenesis disorder 2B
14
Peroxisome biogenesis disorder 3A (Zellweger)
14
Peroxisome biogenesis disorder 3B
13
Peroxisome biogenesis disorder 4A (Zellweger)
14
Peroxisome biogenesis disorder 4B
15
Peroxisome biogenesis disorder 5A (Zellweger)
14
Peroxisome biogenesis disorder 5B
13
Peroxisome biogenesis disorder 6A (Zellweger)
14
Peroxisome biogenesis disorder 6B
15
Peroxisome biogenesis disorder 7A (Zellweger)
14
Peroxisome biogenesis disorder 7B
13
Peroxisome biogenesis disorder 8A, (Zellweger)
13
Peroxisome biogenesis disorder 8B
14
Peroxisome Biogenesis Disorder 9B
13
Perrault Syndrome
11
Perrault Syndrome 2
5
Perrault Syndrome 3
9
Perrault Syndrome 4
5
Perrault Syndrome 5
13
Perrault syndrome 6
3
Perry Syndrome
9
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
6
Persistent Mullerian Duct Syndrome
4
Peters Anomaly
11
Peters Plus Syndrome
12
Pettigrew Syndrome
7
Peutz-Jeghers Syndrome
12
Pfeiffer Syndrome
21
Phelan-Mcdermid Syndrome
6
Phenylketonuria
5
Pheochromocytoma
20
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
6
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
4
Phosphoglycerate Dehydrogenase Deficiency
9
Phosphoglycerate Kinase 1 Deficiency
14
Phosphoribosylpyrophosphate Synthetase Superactivity
7
Phosphoserine Aminotransferase Deficiency
7
Phosphoserine Phosphatase Deficiency
3
Pick's Disease
6
Pierpont syndrome
4
Pierson Syndrome
7
Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-linked
4
Pigmentary Retinal Dystrophy
15
Pigmented Nodular Adrenocortical Disease, Primary, 1
6
Pigmented Nodular Adrenocortical Disease, Primary, 2
1
Pigmented Nodular Adrenocortical Disease, Primary, 3
1
Pigmented Paravenous Chorioretinal Atrophy
5
Pilarowski-Bjornsson syndrome
1
Pilomatrixoma
7
Pineal Hyperplasia And Diabetes Mellitus Syndrome
6
Pitt-Hopkins Syndrome
10
Pitt-Hopkins-like syndrome 2
8
Pituitary adenoma 3, multiple types, somatic
3
Pituitary adenoma 5, multiple types
2
Pituitary Adenoma, Growth Hormone-Secreting
2
Pituitary Dependent Hypercortisolism
1
Pituitary Hormone Deficiency, Combined 1
2
Pituitary Hormone Deficiency, Combined 2
11
Pituitary Hormone Deficiency, Combined 3
7
Pituitary Hormone Deficiency, Combined 4
10
Pituitary Hormone Deficiency, Combined, 6
7
Pityriasis rubra pilaris
5
Plasminogen Activator Inhibitor Type 1 Deficiency
2
Plasminogen Deficiency, Type I
2
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
6
Platelet Glycoprotein IV Deficiency
3
Platyspondylic Lethal Skeletal Dysplasia Torrance Type
14
Pleuropulmonary Blastoma
11
Pneumothorax, Primary Spontaneous
2
Poikiloderma With Neutropenia
6
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
1
Poirier-Bienvenu neurodevelopmental syndrome
3
Polyagglutinable Erythrocyte Syndrome
1
Polyarteritis nodosa, childhood-onset
6
Polycyctic Kidney Disease 3
8
Polycystic Kidney Disease 1
9
Polycystic Kidney Disease 2
8
Polycystic Kidney Disease 5
6
Polycystic Kidney Disease 6 with or without Polycystic Liver Disease
4
Polycystic Kidney Disease, Infantile Type
8
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
7
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
6
Polycystic Liver Disease 2
2
Polycystic liver disease 3 with or without kidney cysts
9
Polycystic Liver Disease 4 with or without Kidney Cysts
6
Polycythemia Vera
4
Polydactyly Preaxial Type 4
13
Polydactyly, Postaxial, Type A1
13
Polydactyly, postaxial, type A10
3
Polydactyly, postaxial, type A6
3
Polydactyly, postaxial, type A7
3
Polydactyly, postaxial, type A8
4
Polydactyly, postaxial, type A9
3
Polydactyly, preaxial I
3
Polydactyly, Preaxial II
6
Polyendocrine-polyneuropathy syndrome
4
Polyglandular Autoimmune Syndrome, Type 1
10
Polyglucosan body disease, adult form
7
Polyglucosan Body Myopathy 1 with or without Immunodeficiency
7
Polyglucosan Body Myopathy 2
5
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
3
Polymicrogyria With Optic Nerve Hypoplasia
5
Polymicrogyria with or without vascular-type EDS
7
Polymicrogyria, Asymmetric
8
Polymicrogyria, Bilateral Frontoparietal
8
Polymicrogyria, bilateral perisylvian
6
Polymicrogyria, bilateral temporooccipital
11
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
5
Polymorphous Corneal Dystrophy
4
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
10
Polyostotic Osteolytic Dysplasia, Hereditary Expansile
9
Pontocerebellar Hypoplasia Type 1
8
Pontocerebellar Hypoplasia Type 10
6
Pontocerebellar Hypoplasia Type 11
4
Pontocerebellar Hypoplasia Type 1B
9
Pontocerebellar Hypoplasia Type 2A
8
Pontocerebellar Hypoplasia Type 2B
7
Pontocerebellar Hypoplasia Type 2C
6
Pontocerebellar Hypoplasia Type 2D
7
Pontocerebellar Hypoplasia Type 2E
5
Pontocerebellar Hypoplasia Type 2F
6
Pontocerebellar Hypoplasia Type 4
8
Pontocerebellar Hypoplasia Type 5
8
Pontocerebellar Hypoplasia Type 6
8
Pontocerebellar Hypoplasia Type 7
6
Pontocerebellar Hypoplasia Type 8
6
Pontocerebellar Hypoplasia Type 9
7
Pontocerebellar hypoplasia, type 12
3
Pontocerebellar hypoplasia, type 13
2
Pontocerebellar hypoplasia, type 14
1
Pontocerebellar hypoplasia, type 16
1
Pontocerebellar hypoplasia, type 1C
2
Pontocerebellar hypoplasia, type 1D
3
Pontocerebellar hypoplasia, type 1E
5
Pontocerebellar hypoplasia, type 3
3
Popliteal Pterygium Syndrome
9
Popliteal pterygium syndrome 2, lethal type
9
Popliteal pterygium syndrome, Bartsocas-Papas type 2
3
Porencephaly 1
17
Porencephaly 2
12
Poretti-Boltshauser Syndrome
4
Porokeratosis 1, multiple types
1
Porokeratosis 7, multiple types
1
Porokeratosis 9, multiple types
1
Porokeratosis, Disseminated Superficial Actinic 1
8
Porphyria, Acute Hepatic
4
Porphyria, Congenital Erythropoietic
5
Portal hypertension, noncirrhotic
6
Posterior Column Ataxia With Retinitis Pigmentosa
8
Potassium Aggravated Myotonia
5
Potocki-Lupski syndrome
1
Prader-Willi Syndrome
2
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias
11
Preeclampsia/Eclampsia 1
2
Preimplantation Embryonic Lethality 2
2
Premature aging syndrome, Penttinen type
7
Premature Chromatid Separation Trait
6
Premature Ovarian Failure
4
Premature Ovarian Failure 10
4
Premature ovarian failure 11
5
Premature Ovarian Failure 12
2
Premature ovarian failure 15
9
Premature ovarian failure 17
4
Premature ovarian failure 18
1
Premature Ovarian Failure 3
5
Premature Ovarian Failure 5
3
Premature Ovarian Failure 6
4
Premature Ovarian Failure 7
5
Premature Ovarian Failure 8
4
Premature Ovarian Failure 9
4
Preterm Premature Rupture Of The Membranes
2
Prieto syndrome
1
Primary Aldosteronism, Seizures, and Neurologic Abnormalities
8
Primary Autosomal Recessive Microcephaly 1
6
Primary Autosomal Recessive Microcephaly 17
5
Primary Autosomal Recessive Microcephaly 2
7
Primary Autosomal Recessive Microcephaly 3
7
Primary Autosomal Recessive Microcephaly 4
3
Primary Autosomal Recessive Microcephaly 5
6
Primary Autosomal Recessive Microcephaly 6
6
Primary Autosomal Recessive Microcephaly 7
4
Primary Autosomal Recessive Microcephaly 8
3
Primary Autosomal Recessive Microcephaly 9
6
Primary Erythromelalgia
5
Primary Hyperoxaluria, Type I
6
Primary Hyperoxaluria, Type II
5
Primary Hyperoxaluria, Type III
5
Primary Hypomagnesemia
7
Primary Macronodular Adrenal Hyperplasia
2
Primary Open Angle Glaucoma
4
Primary Open Angle Glaucoma Juvenile Onset 1
6
Primrose Syndrome
7
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions 1
14
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 2
9
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3
16
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4
14
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5
13
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
10
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Recessive
15
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2
8
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
15
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
8
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
3
Progressive Familial Heart Block Type 1A
4
Progressive Familial Heart Block Type 1B
3
Progressive Intrahepatic Cholestasis
6
Progressive Myoclonus Epilepsy With Ataxia
1
Progressive Osseous Heteroplasia
7
Progressive Sclerosing Poliodystrophy
18
Prolactinoma, Familial
1
Prolidase Deficiency
3
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
5
Prolonged Electroretinal Response Suppression
5
Proopiomelanocortin Deficiency
4
Properdin Deficiency, X-Linked
2
Propionic Acidemia
14
Proprotein Convertase 1/3 Deficiency
12
Prostate Cancer
22
Prostate Cancer/Brain Cancer Susceptibility
1
Proteasome-associated autoinflammatory syndrome 2
3
Proteasome-associated autoinflammatory syndrome 3 and digenic forms
5
Proteasome-associated autoinflammatory syndrome 4
1
Proteasome-associated autoinflammatory syndrome 6
2
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
4
Proteus Syndrome
2
Prothrombin Deficiency, Congenital
4
Protoporphyria, erythropoietic, 2
1
Protoporphyria, Erythropoietic, X-Linked
7
Proud Levine Carpenter Syndrome
12
Prune Belly Syndrome
1
Pseudo Von Willebrand Disease
5
Pseudo-Hurler Polydystrophy
7
Pseudo-TORCH Syndrome 1
5
Pseudo-TORCH syndrome 2
6
Pseudo-TORCH syndrome 3
2
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
5
Pseudohyperkalemia, familial, 2, due to red cell leak
2
Pseudohypoaldosteronism Type 1 Autosomal Dominant
6
Pseudohypoaldosteronism Type 1 Autosomal Recessive
8
Pseudohypoaldosteronism, type IIB
4
Pseudohypoaldosteronism, type IIC
7
Pseudohypoaldosteronism, type IID
4
Pseudohypoaldosteronism, type IIE
6
Pseudohypoparathyroidism Type 1A
8
Pseudohypoparathyroidism Type 1B
7
Pseudohypoparathyroidism Type 1C
7
Pseudopseudohypoparathyroidism
6
Pseudoxanthoma Elasticum
16
Pseudoxanthoma Elasticum, Forme Fruste
10
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
5
Psoriasis 15, pustular, susceptibility to
2
Psoriasis Susceptibility 13
2
Psoriasis susceptibility 2
5
Psoriasis Susceptibility 7
1
Psoriatic Arthritis, Susceptibility To
1
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
1
Pulmonary Alveolar Microlithiasis
1
Pulmonary Arterial Hypertension
4
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6
1
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
1
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
1
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
1
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1
10
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2
7
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3
8
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4
10
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
4
Pulmonary hypertension, neonatal, susceptibility to
6
Pulmonary hypertension, primary, 2
2
Pulmonary hypertension, primary, 3
7
Pulmonary hypertension, primary, 4
3
Pulmonary Veno-Occlusive Disease
3
Pulmonary venoocclusive disease 2
2
Purine Nucleoside Phosphorylase Deficiency
6
Pyknodysostosis
3
Pyle disease
1
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
4
Pyridoxal 5'-Phosphate-Dependent Epilepsy
6
Pyridoxine-Dependent Epilepsy
7
Pyruvate Carboxylase Deficiency
11
Pyruvate Dehydrogenase E1-Alpha Deficiency
11
Pyruvate Dehydrogenase E1-Beta Deficiency
6
Pyruvate Dehydrogenase E2 Deficiency
8
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
9
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
9
Pyruvate Dehydrogenase Phosphatase Deficiency
6
Pyruvate Kinase Deficiency
4
Quebec Platelet Disorder
2
Question mark ears, isolated
2
Rabin-Pappas syndrome
2
Radio-Tartaglia syndrome
2
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia
6
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2
5
Rahman syndrome
1
Raine Syndrome
3
Rajab interstitial lung disease with brain calcifications
3
Rajab interstitial lung disease with brain calcifications 2
1
Rapadilino Syndrome
13
Raph Blood Group System
1
Rapp-Hodgkin Ectodermal Dysplasia Syndrome
11
RAS-Associated Autoimmune Leukoproliferative Disorder
11
Recessive Dystrophic Epidermolysis Bullosa
7
Refsum Disease, Classic
8
Reifenstein Syndrome
3
Reis-Bucklers' Corneal Dystrophy
1
Renal Adysplasia
4
Renal Cell Carcinoma, Nonpapillary
12
Renal Cell Carcinoma, Papillary, 1
4
Renal Cell Carcinoma, Xp11-Associated
1
Renal Dysplasia And Retinal Aplasia
14
Renal Hypodysplasia/Aplasia 2
3
Renal Hypodysplasia/Aplasia 3
4
Renal hypodysplasia/aplasia 4
1
Renal Hypouricemia 2
5
Renal Tubular Acidosis With Progressive Nerve Deafness
5
Renal Tubular Acidosis, Distal, Autosomal Dominant
5
Renal Tubular Acidosis, Distal, Autosomal Recessive
5
Renal Tubular Acidosis, Distal, With Hemolytic Anemia
4
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
5
Renal Tubular Dysgenesis
12
Renal-Hepatic-Pancreatic Dysplasia
7
Renal-hepatic-pancreatic dysplasia 2
6
Renpenning Syndrome 1
10
Respiratory papillomatosis, juvenile recurrent, congenital
1
Restrictive Dermopathy, Lethal
11
Reticular Dysgenesis
6
Reticulate Acropigmentation Of Kitamura
2
Retinal arteries, tortuosity of
12
Retinal Cone Dystrophy 3A
5
Retinal Cone Dystrophy 3B
5
Retinal Cone Dystrophy 4
6
Retinal Dystrophy and Iris Coloboma with or without Cataract
3
Retinal dystrophy and microvillus inclusion disease
1
Retinal Dystrophy and Obesity
3
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities
5
Retinal dystrophy with leukodystrophy
3
Retinal Dystrophy with Macular Staphyloma
6
Retinal Dystrophy with or without Extraocular Anomalies
5
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
4
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
3
Retinitis Pigmentosa
5
Retinitis Pigmentosa 1
8
Retinitis Pigmentosa 10
6
Retinitis Pigmentosa 11
5
Retinitis Pigmentosa 12
7
Retinitis Pigmentosa 13
6
Retinitis Pigmentosa 14
7
Retinitis Pigmentosa 15
11
Retinitis Pigmentosa 17
6
Retinitis Pigmentosa 18
6
Retinitis Pigmentosa 19
7
Retinitis Pigmentosa 2
5
Retinitis Pigmentosa 20
8
Retinitis Pigmentosa 23
14
Retinitis Pigmentosa 25
6
Retinitis Pigmentosa 26
7
Retinitis Pigmentosa 27
5
Retinitis Pigmentosa 28
6
Retinitis Pigmentosa 30
5
Retinitis Pigmentosa 31
5
Retinitis pigmentosa 32
1
Retinitis Pigmentosa 33
6
Retinitis Pigmentosa 35
7
Retinitis Pigmentosa 36
5
Retinitis Pigmentosa 37
7
Retinitis Pigmentosa 38
6
Retinitis Pigmentosa 39
6
Retinitis Pigmentosa 4
8
Retinitis Pigmentosa 40
9
Retinitis Pigmentosa 41
7
Retinitis Pigmentosa 42
7
Retinitis Pigmentosa 43
7
Retinitis Pigmentosa 44
5
Retinitis Pigmentosa 45
5
Retinitis Pigmentosa 46
5
Retinitis Pigmentosa 47
6
Retinitis Pigmentosa 48
6
Retinitis Pigmentosa 49
7
Retinitis Pigmentosa 50
11
Retinitis Pigmentosa 51
9
Retinitis Pigmentosa 54
6
Retinitis Pigmentosa 55
9
Retinitis Pigmentosa 56
6
Retinitis Pigmentosa 57
4
Retinitis Pigmentosa 58
5
Retinitis Pigmentosa 59
10
Retinitis Pigmentosa 60
6
Retinitis Pigmentosa 61
5
Retinitis Pigmentosa 62
4
Retinitis Pigmentosa 66
7
Retinitis Pigmentosa 67
2
Retinitis Pigmentosa 68
6
Retinitis Pigmentosa 69
3
Retinitis Pigmentosa 7
9
Retinitis Pigmentosa 70
2
Retinitis Pigmentosa 71
12
Retinitis Pigmentosa 72
4
Retinitis Pigmentosa 73
6
Retinitis Pigmentosa 74
7
Retinitis Pigmentosa 75
2
Retinitis pigmentosa 76
9
Retinitis Pigmentosa 77
4
Retinitis pigmentosa 78
1
Retinitis pigmentosa 79
5
Retinitis pigmentosa 80
6
Retinitis Pigmentosa 81
5
Retinitis pigmentosa 83
1
Retinitis pigmentosa 84
1
Retinitis pigmentosa 85
1
Retinitis pigmentosa 86
1
Retinitis pigmentosa 87 with choroidal involvement
2
Retinitis pigmentosa 88
1
Retinitis pigmentosa 89
1
Retinitis Pigmentosa 9
3
Retinitis pigmentosa 90
1
Retinitis pigmentosa 91
2
Retinitis pigmentosa 93
1
Retinitis Pigmentosa and Erythrocytic Microcytosis
9
Retinitis Pigmentosa with or without Situs Inversus
4
Retinitis pigmentosa with or without skeletal anomalies
2
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
11
Retinoblastoma
3
Retinoschisis 1, X-Linked, Juvenile
6
Rett Syndrome
10
Rett Syndrome, Congenital Variant
10
Revesz Syndrome
6
Reynolds Syndrome
6
Rh-Null, Regulator Type
1
Rhabdoid Tumor Predisposition Syndrome 1
9
Rhabdoid Tumor Predisposition Syndrome 2
15
Rhabdomyosarcoma Alveolar
6
Rhabdomyosarcoma, embryonal, 2
4
Rheumatoid Arthritis
3
Rhizomelic Chondrodysplasia Punctata Type 1
12
Rhizomelic Chondrodysplasia Punctata Type 2
8
Rhizomelic Chondrodysplasia Punctata, Type 3
7
Rhizomelic chondrodysplasia punctata, type 5
11
Rhizomelic limb shortening with dysmorphic features
2
RHYNS syndrome
7
Riboflavin deficiency
3
Riddle Syndrome
4
Right atrial isomerism
4
Rigid Spine Muscular Dystrophy 1
4
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal
5
Ring Dermoid Of Cornea
11
Rippling Muscle Disease
6
Ritscher-Schinzel syndrome 1
4
Ritscher-Schinzel Syndrome 2
2
Roberts Syndrome
17
Roberts-SC Phocomelia Syndrome
11
Robinow Syndrome
11
Robinow syndrome, autosomal dominant 2
3
Robinow syndrome, autosomal dominant 3
3
Robinow Syndrome, Autosomal Recessive
10
Robinow syndrome, autosomal recessive 2
1
Robinow-Sorauf Syndrome
8
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
3
Roifman syndrome
5
Roifman-Chitayat syndrome, digenic
2
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked
2
ROSAH syndrome
4
Rothmund-Thomson Syndrome
16
Rotor syndrome
5
Roussy-Levy Syndrome
1
Rubinstein-Taybi Syndrome
20
Rubinstein-Taybi Syndrome 2
14
Ruijs-Aalfs syndrome
1
SADDAN
10
Saethre-Chotzen Syndrome
17
Salla Disease
8
Sandestig-Stefanova syndrome
2
Sandhoff Disease
10
Sarcosine Dehydrogenase Deficiency
1
Saul-Wilson syndrome
5
Scalp-ear-nipple syndrome
6
Scaphocephaly, Maxillary Retrusion, And Mental Retardation
10
Scapuloperoneal Myopathy, Myh7-Related
5
Scapuloperoneal Myopathy, X-Linked Dominant
5
Scapuloperoneal Spinal Muscular Atrophy
7
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
2
Schaaf-Yang Syndrome
5
Schimke Immunoosseous Dysplasia
8
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic
11
Schindler Disease, Type 1
5
Schinzel-Giedion Midface Retraction Syndrome
9
Schizencephaly
7
Schizophrenia
6
Schizophrenia 15
5
Schizophrenia 17
5
Schizophrenia 9
1
Schneckenbecken Dysplasia
2
Schnyder Crystalline Corneal Dystrophy
3
Schopf-Schulz-Passarge Syndrome
2
Schuurs-Hoeijmakers Syndrome
7
Schwannomatosis 1
12
Schwannomatosis 2
6
Schwartz Jampel Syndrome Type 1
3
SCID Due To Absent Class II HLA Antigens
3
SCID, autosomal recessive, T-negative/B-positive type
3
Sclerosing cholangitis, neonatal
4
Sclerosteosis
2
Sclerosteosis 2
6
Scott Syndrome
4
Sea-Blue Histiocyte Syndrome
4
Sebastian Syndrome
3
Seckel Syndrome
7
Seckel syndrome 10
1
Seckel Syndrome 2
5
Seckel Syndrome 4
5
Seckel Syndrome 5
3
Seckel syndrome 6
1
Seckel syndrome 7
2
Seckel syndrome 8
7
Seckel Syndrome 9
4
Seizures, Benign Familial Infantile, 2
9
Seizures, benign familial infantile, 5
7
Seizures, Benign Familial Neonatal, 2
6
Seizures, Cortical Blindness, Microcephaly Syndrome
8
Seizures, early-onset, with neurodegeneration and brain calcification
1
Seizures, scoliosis, and macrocephaly syndrome
5
Sengers syndrome
12
Senior-Loken Syndrome 4
8
Senior-Loken Syndrome 5
10
Senior-Loken Syndrome 6
16
Senior-Loken Syndrome 7
14
Senior-Loken Syndrome 8
7
Senior-Loken syndrome 9
3
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
16
Sepiapterin Reductase Deficiency
7
Septooptic Dysplasia
12
Serkal Syndrome
3
Serum Level Of Adiponectin 1
2
SeSAME Syndrome
11
Severe Combined Immunodeficiency Due To Ada Deficiency
9
Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation
3
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
5
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
7
Severe Congenital Neutropenia Autosomal Dominant
8
Severe Congenital Neutropenia Autosomal Recessive 3
6
Severe Congenital Neutropenia X-Linked
7
Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, NK Cell-Positive
7
Severe Myoclonic Epilepsy In Infancy
11
Severe X-Linked Myotubular Myopathy
6
Shaheen syndrome
6
Shashi-Pena syndrome
5
Short QT Syndrome 1
5
Short QT Syndrome 2
7
Short QT Syndrome 3
8
Short stature with microcephaly and distinctive facies
5
Short stature with nonspecific skeletal abnormalities
3
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
2
Short stature, brachydactyly, intellectual developmental disability, and seizures
3
Short stature, developmental delay, and congenital heart defects
2
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
4
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
2
Short Stature, Idiopathic, Autosomal
3
Short Stature, Idiopathic, X-Linked
3
Short Stature, Mcrocephaly, and Endocrine Dysfunction
4
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
3
Short stature, Optic nerve atrophy, and Pelger-Huet anomaly
13
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
3
SHORT syndrome
7
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly
14
Short-Rib Thoracic Dysplasia 11 with or without Polydactyly
5
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly
10
Short-rib thoracic dysplasia 14 with polydactyly
7
Short-rib thoracic dysplasia 15 with polydactyly
5
Short-rib thoracic dysplasia 16 with or without polydactyly
5
Short-rib thoracic dysplasia 17 with or without polydactyly
3
Short-rib thoracic dysplasia 18 with polydactyly
6
Short-rib thoracic dysplasia 19 with or without polydactyly
6
Short-Rib Thoracic Dysplasia 2 with or without Polydactyly
8
Short-rib thoracic dysplasia 20 with polydactyly
6
Short-rib thoracic dysplasia 21 without polydactyly
1
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly
13
Short-Rib Thoracic Dysplasia 4 with or without Polydactyly
7
Short-Rib Thoracic Dysplasia 5 with or without Polydactyly
8
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly
11
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly
15
Short-Rib Thoracic Dysplasia 8 with or without Polydactyly
9
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly
13
Shprintzen-Goldberg Syndrome
8
Shukla-Vernon syndrome
1
Shwachman Syndrome
9
Shwachman-Diamond syndrome 2
8
Sialic Acid Storage Disease, Severe Infantile Type
9
Sialidosis, Type II
8
Sialuria
8
Sick Sinus Syndrome 1, Autosomal Recessive
3
Sick Sinus Syndrome 2, Autosomal Dominant
10
Sick Sinus Syndrome 3, Susceptibility To
5
Sickle Cell Anemia
2
Siddiqi syndrome
2
Siderius X-Linked Mental Retardation Syndrome
3
Sideroblastic Anemia And Mitochondrial Myopathy
7
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
10
Sifrim-Hitz-Weiss Syndrome
8
Simpson-Golabi-Behmel Syndrome
18
Simpson-Golabi-Behmel Syndrome, Type 2
16
Single Upper Central Incisor
9
Singleton-Merten Syndrome 1
8
Singleton-Merten syndrome 2
3
Sinoatrial node dysfunction and deafness
6
Sitosterolemia
11
Sitosterolemia 2
5
Sjogren-Larsson Syndrome
5
Skeletal dysplasia, mild, with joint laxity and advanced bone age
3
Skin Fragility Woolly Hair Syndrome
5
Skin/Hair/Eye Pigmentation, Variation In, 1
6
Skin/Hair/Eye Pigmentation, Variation In, 2
1
Skin/Hair/Eye Pigmentation, Variation In, 3
6
Skin/Hair/Eye Pigmentation, Variation In, 4
4
Skin/Hair/Eye Pigmentation, Variation In, 5
2
Skin/Hair/Eye Pigmentation, Variation In, 6
1
Skin/Hair/Eye Pigmentation, Variation In, 7
2
Skraban-Deardorff syndrome
4
Slowed Nerve Conduction Velocity, Autosomal Dominant
2
Small patella syndrome
5
Smith McCort Dysplasia
5
Smith-Kingsmore Syndrome
9
Smith-Lemli-Opitz Syndrome
27
Smith-Magenis Syndrome
8
Smith-McCort Dysplasia 2
1
Smoking As A Quantitative Trait Locus 3
1
Sneddon syndrome
5
Snijders Blok-Campeau syndrome
4
Snijders Blok-Fisher syndrome
1
Snowflake Vitreoretinal Degeneration
3
Snyder Robinson Syndrome
12
Sodium Serum Level Quantitative Trait Locus 1
4
Sorbitol dehydrogenase deficiency with peripheral neuropathy
1
Sorsby Fondus Dystrophy
4
Sotos Syndrome 2
6
Sotos syndrome 3
3
Sotos' Syndrome
12
Spastic ataxia 1, autosomal dominant
6
Spastic ataxia 10, autosomal recessive
3
Spastic Ataxia 2, Autosomal Recessive
4
Spastic Ataxia 3
5
Spastic Ataxia 4, Autosomal Recessive
8
Spastic ataxia 5, autosomal recessive
8
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
5
Spastic ataxia 9, autosomal recessive
1
Spastic Ataxia Charlevoix-Saguenay Type
7
Spastic Paraplegia 10
10
Spastic Paraplegia 11
13
Spastic Paraplegia 12
4
Spastic Paraplegia 13
8
Spastic Paraplegia 15
9
Spastic Paraplegia 17
12
Spastic Paraplegia 18
6
Spastic paraplegia 18A, autosomal dominant
1
Spastic Paraplegia 2
10
Spastic Paraplegia 23
6
Spastic Paraplegia 26
6
Spastic Paraplegia 28
6
Spastic Paraplegia 3
7
Spastic Paraplegia 30
12
Spastic Paraplegia 31
7
Spastic Paraplegia 33
3
Spastic paraplegia 35
8
Spastic Paraplegia 39
7
Spastic Paraplegia 4
8
Spastic Paraplegia 42
10
Spastic Paraplegia 43
7
Spastic Paraplegia 44
4
Spastic Paraplegia 45
5
Spastic Paraplegia 46
6
Spastic Paraplegia 47
7
Spastic Paraplegia 48
6
Spastic Paraplegia 49
7
Spastic Paraplegia 50
8
Spastic Paraplegia 51
7
Spastic Paraplegia 52
7
Spastic Paraplegia 53
4
Spastic Paraplegia 54
7
Spastic Paraplegia 55
7
Spastic Paraplegia 56
8
Spastic Paraplegia 57
8
Spastic Paraplegia 5A
10
Spastic Paraplegia 6
6
Spastic Paraplegia 61
4
Spastic Paraplegia 62
4
Spastic Paraplegia 63
7
Spastic Paraplegia 64
5
Spastic Paraplegia 7
12
Spastic Paraplegia 72
4
Spastic Paraplegia 73
5
Spastic Paraplegia 74
7
Spastic Paraplegia 75
6
Spastic Paraplegia 76
5
Spastic Paraplegia 77
8
Spastic Paraplegia 78
9
Spastic Paraplegia 79
7
Spastic paraplegia 79A, autosomal dominant
2
Spastic Paraplegia 8
7
Spastic paraplegia 80, autosomal dominant
2
Spastic paraplegia 81, autosomal recessive
2
Spastic paraplegia 82, autosomal recessive
2
Spastic paraplegia 83, autosomal recessive
2
Spastic paraplegia 84, autosomal recessive
4
Spastic paraplegia 86, autosomal recessive
1
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
3
Spastic Paraplegia 9A
11
Spastic Paraplegia 9B
11
Spastic Paraplegia and Psychomotor Retardation with or without Seizures
8
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity
6
Spastic paraplegia, optic atrophy, and neuropathy
3
Spastic tetraplegia and axial hypotonia, progressive
1
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
5
Spasticity, childhood-onset, with hyperglycinemia
6
Specific Granule Deficiency
3
Specific Granule Deficiency 2
4
Speech-Language Disorder 1
1
Spermatogenic failure
4
Spermatogenic failure 1
2
Spermatogenic Failure 10
2
Spermatogenic Failure 11
2
Spermatogenic Failure 12
2
Spermatogenic Failure 13
2
Spermatogenic Failure 14
2
Spermatogenic Failure 15
2
Spermatogenic Failure 16
2
Spermatogenic Failure 17
2
Spermatogenic failure 18
6
Spermatogenic Failure 19
2
Spermatogenic Failure 2
2
Spermatogenic Failure 20
2
Spermatogenic Failure 21
2
Spermatogenic failure 23
2
Spermatogenic failure 24
2
Spermatogenic failure 25
2
Spermatogenic failure 27
5
Spermatogenic failure 28
9
Spermatogenic Failure 3
2
Spermatogenic failure 31
2
Spermatogenic failure 32
1
Spermatogenic failure 33
2
Spermatogenic failure 34
2
Spermatogenic failure 35
2
Spermatogenic failure 36
2
Spermatogenic failure 37
2
Spermatogenic failure 38
2
Spermatogenic failure 39
2
Spermatogenic Failure 4
2
Spermatogenic failure 40
2
Spermatogenic failure 41
2
Spermatogenic failure 42
2
Spermatogenic failure 43
6
Spermatogenic failure 44
2
Spermatogenic failure 45
2
Spermatogenic failure 46
5
Spermatogenic failure 47
3
Spermatogenic failure 48
2
Spermatogenic failure 49
2
Spermatogenic failure 51
2
Spermatogenic failure 52
2
Spermatogenic failure 53
2
Spermatogenic failure 56
2
Spermatogenic failure 57
2
Spermatogenic failure 58
2
Spermatogenic Failure 6
3
Spermatogenic failure 72
1
Spermatogenic Failure 8
5
Spermatogenic Failure 9
2
Spermatogenic failure, X-linked, 3
2
Spermatogenic Failure, Y-Linked, 1
1
Spermatogenic Failure, Y-Linked, 2
1
Spherocytosis, type 2
4
Spherocytosis, Type 3
4
Spherocytosis, Type 4
5
Spherocytosis, Type 5
5
Spheroid Body Myopathy
3
Sphingolipid Activator Protein 1 Deficiency
9
Spiegler-Brooke Syndrome
1
Spinal muscular atrophy with congenital bone fractures 1
4
Spinal muscular atrophy with congenital bone fractures 2
4
Spinal muscular atrophy with progressive myoclonic epilepsy
10
Spinal Muscular Atrophy With Respiratory Distress 1
4
Spinal muscular atrophy, distal, autosomal recessive, 2
5
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
1
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
4
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive
6
Spinal Muscular Atrophy, Distal, X-Linked 3
19
Spinal muscular atrophy, infantile, James type
1
Spinal muscular atrophy, Jokela type
4
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant; SMALED
9
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2
6
Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant
2
Spinal Muscular Atrophy, Type I
1
Spinal Muscular Atrophy, Type II
1
Spinal Muscular Atrophy, Type III
1
Spinal Muscular Atrophy, Type IV
1
Spinocerebellar Ataxia 10
1
Spinocerebellar Ataxia 11
2
Spinocerebellar Ataxia 13
1
Spinocerebellar Ataxia 14
1
Spinocerebellar Ataxia 15
8
Spinocerebellar Ataxia 17
1
Spinocerebellar ataxia 19
4
Spinocerebellar Ataxia 2
3
Spinocerebellar Ataxia 21
2
Spinocerebellar Ataxia 23
2
Spinocerebellar ataxia 25
1
Spinocerebellar ataxia 26
1
Spinocerebellar Ataxia 27
2
Spinocerebellar Ataxia 28
7
Spinocerebellar ataxia 29, congenital nonprogressive
8
Spinocerebellar ataxia 34
5
Spinocerebellar Ataxia 35
2
Spinocerebellar ataxia 37
1
Spinocerebellar ataxia 38
2
Spinocerebellar ataxia 40
4
Spinocerebellar ataxia 41
2
Spinocerebellar ataxia 42
3
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
3
Spinocerebellar ataxia 43
3
Spinocerebellar ataxia 44
3
Spinocerebellar ataxia 45
1
Spinocerebellar ataxia 46
3
Spinocerebellar ataxia 47
3
Spinocerebellar ataxia 48
1
Spinocerebellar Ataxia 5
2
Spinocerebellar Ataxia 6
8
Spinocerebellar Ataxia 7
2
Spinocerebellar Ataxia Autosomal Recessive 1
10
Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy
2
Spinocerebellar Ataxia, Autosomal Recessive 10
4
Spinocerebellar Ataxia, Autosomal Recessive 11
2
Spinocerebellar ataxia, autosomal recessive 12
7
Spinocerebellar ataxia, autosomal recessive 13
3
Spinocerebellar ataxia, autosomal recessive 14
2
Spinocerebellar ataxia, autosomal recessive 15
2
Spinocerebellar ataxia, autosomal recessive 16
1
Spinocerebellar ataxia, autosomal recessive 17
1
Spinocerebellar ataxia, autosomal recessive 18
3
Spinocerebellar ataxia, autosomal recessive 2
4
Spinocerebellar Ataxia, Autosomal Recessive 20
5
Spinocerebellar ataxia, autosomal recessive 21
4
Spinocerebellar ataxia, autosomal recessive 22
1
Spinocerebellar ataxia, autosomal recessive 23
2
Spinocerebellar ataxia, autosomal recessive 24
3
Spinocerebellar ataxia, autosomal recessive 25
3
Spinocerebellar ataxia, autosomal recessive 26
1
Spinocerebellar ataxia, autosomal recessive 27
1
Spinocerebellar ataxia, autosomal recessive 28
2
Spinocerebellar ataxia, autosomal recessive 30
1
Spinocerebellar ataxia, autosomal recessive 31
2
Spinocerebellar ataxia, autosomal recessive 4
3
Spinocerebellar ataxia, autosomal recessive 7
8
Spinocerebellar Ataxia, Autosomal Recessive 8
4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
6
Spinocerebellar ataxia, X-linked 1
1
Spitz nevus or nevus spilus, somatic
10
Split-foot malformation with mesoaxial polydactyly
5
Split-hand/foot malformation 1
4
Split-hand/foot malformation 1 with sensorineural hearing loss
6
Split-Hand/Foot Malformation 4
9
Split-Hand/Foot Malformation 6
5
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
1
Spondylocarpotarsal Synostosis Syndrome
5
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
4
Spondylocostal Dysostosis 1
4
Spondylocostal Dysostosis 2
5
Spondylocostal Dysostosis 3
6
Spondylocostal Dysostosis 4
5
Spondylocostal Dysostosis 5
4
Spondylocostal dysostosis 6
4
Spondyloenchondrodysplasia With Immune Dysregulation
9
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related
4
Spondyloepimetaphyseal Dysplasia Strudwick Type
14
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
6
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2
2
Spondyloepimetaphyseal dysplasia with joint laxity, type 3
1
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
2
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type
5
Spondyloepimetaphyseal dysplasia, Di Rocco type
2
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
1
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
2
Spondyloepimetaphyseal Dysplasia, Missouri Type
2
Spondyloepimetaphyseal dysplasia, Shohat type
2
Spondyloepimetaphyseal dysplasia, sponastrime type
4
Spondyloepimetaphyseal dysplasia, X-linked
5
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
6
Spondyloepiphyseal Dysplasia Congenita
14
Spondyloepiphyseal Dysplasia Maroteaux Type
5
Spondyloepiphyseal Dysplasia Tarda
3
Spondyloepiphyseal Dysplasia Tarda Progressive Arthropathy
1
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
5
Spondyloepiphyseal Dysplasia, Kimberley Type
2
Spondyloepiphyseal dysplasia, Kondo-Fu type
1
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
1
Spondyloepiphyseal Sysplasia, Stanescu Type
13
Spondylometaepiphyseal Dysplasia Short Limb-Hand Type
4
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
7
Spondylometaphyseal dysplasia with corneal dystrophy
1
Spondylometaphyseal dysplasia, axial
5
Spondylometaphyseal dysplasia, corner fracture type
2
Spondylometaphyseal Dysplasia, Kozlowski Type
5
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
2
Spondylometaphyseal dysplasia, Sedaghatian type
2
Spondyloocular syndrome
9
Spondyloperipheral Dysplasia
14
Spongy Degeneration Of Central Nervous System
8
Squalene synthase deficiency
9
Stankiewicz-Isidor syndrome
2
Stapes Ankylosis With Broad Thumb And Toes
6
STAR Syndrome
7
Stargardt Disease 1
9
Stargardt Disease 3
9
Stargardt Disease 4
7
Steel Syndrome
1
Stickler Syndrome Type 1
17
Stickler Syndrome, Type 2
14
Stickler Syndrome, Type 3
10
Stickler Syndrome, Type 4
12
Stickler Syndrome, Type 5
12
Stickler Syndrome, Type I, Nonsyndromic Ocular
19
Stiff Skin Syndrome
15
STING-associated vasculopathy, infantile-onset
2
Stocco Dos Santos Syndrome
3
Stomatin-deficient cryohydrocytosis with neurologic defects
9
Stomatocytosis I
1
Stormorken syndrome
7
Striatal degeneration, autosomal dominant
2
Striatal Degeneration, Autosomal Dominant
2
Striatal Necrosis, Bilateral, And Progressive Polyneuropathy
5
Striatonigral Degeneration Infantile
1
Striatonigral degeneration, childhood-onset
3
Stroke 1
1
Stroke, hemorrhagic
11
Stromme syndrome
11
Structural brain anomalies with impaired intellectual development and craniosynostosis
1
Sturge-Weber syndrome, somatic, mosaic
1
Stuttering, familial persistent, 1
4
Stuttering, Familial Persistent, 2
4
Stuve-Wiedemann Syndrome
3
Stuve-Wiedemann syndrome 2
1
Succinate-Semialdehyde Dehydrogenase Deficiency
6
Succinyl-CoA Acetoacetate Transferase Deficiency
5
Sucrase-Isomaltase Deficiency
4
Sudden cardiac failure, alcohol-induced
4
Sudden cardiac failure, infantile
4
Sudden Infant Death Syndrome
2
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
3
Sulfide:quinone oxidoreductase deficiency
2
Sulfite Oxidase Deficiency
7
Supranuclear Palsy, Progressive, 1
5
Supravalvar Aortic Stenosis
8
Surfactant Metabolism Dysfunction, Pulmonary, 1
5
Surfactant Metabolism Dysfunction, Pulmonary, 2
4
Surfactant Metabolism Dysfunction, Pulmonary, 3
5
Surfactant Metabolism Dysfunction, Pulmonary, 4
3
Surfactant Metabolism Dysfunction, Pulmonary, 5
4
Sveinsson Chorioretinal Atrophy
2
Sweeney-Cox syndrome
7
Symmetric circumferential skin creases, congenital, 1
2
Symmetric circumferential skin creases, congenital, 2
2
Symmetrical Dyschromatosis Of Extremities
4
Symphalangism, Proximal, 1B
5
Syndactyly Cenani Lenz Type
8
Syndactyly Type 3
10
Syndactyly Type 5
8
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
7
Syndactyly, Type IV
5
Synpolydactyly 1
9
Synpolydactyly 2
5
Systemic Carnitine Deficiency
11
Systemic Lupus Erythematosus
9
Systemic Lupus Erythematosus 11
2
Systemic lupus erythematosus 16
2
Systemic lupus erythematosus 17
2
Systemic Lupus Erythematosus 2
2
Systemic Lupus Erythematosus 9
4
T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy
2
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
2
T-cell lymphoma, subcutaneous panniculitis-like
3
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
1
Takenouchi-Kosaki syndrome
4
Talipes Equinovarus
4
Tangier Disease
4
TARP Syndrome
5
Tarsal Carpal Coalition Syndrome
6
Tatton-Brown-Rahman Syndrome
9
Taurodontism, microdontia, and dens invaginatus
1
Tay-Sachs Disease
12
Tay-Sachs disease AB Variant
12
Telangiectasia, Hereditary Hemorrhagic, Type 5
3
Temple-Baraitser Syndrome
6
Temtamy Preaxial Brachydactyly Syndrome
6
Temtamy Syndrome
9
Tenorio Syndrome
6
Terminal Osseous Dysplasia
16
Testicular Anomalies with or without Congenital Heart Disease
11
Testicular Cancer
12
Testosterone 17-Beta-Dehydrogenase Deficiency
8
Tetraamelia syndrome 2
1
Tetraamelia, Autosomal Recessive
2
Thalassemias, beta
2
Thanatophoric Dysplasia Type 1
14
Thanatophoric Dysplasia Type 2
14
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
8
Thiamine Responsive Megaloblastic Anemia Syndrome
12
Thiel-Behnke Corneal Dystrophy
2
Thiopurine Methyltransferase Deficiency
1
Three M Syndrome 1
6
Three M Syndrome 2
1
Thrombocythemia 2
4
Thrombocythemia 3
4
Thrombocytopenia 10
1
Thrombocytopenia 12 with or without myopathy
2
Thrombocytopenia 2
10
Thrombocytopenia 3
3
Thrombocytopenia 4
6
Thrombocytopenia 5
9
Thrombocytopenia 6
1
Thrombocytopenia 8, with dysmorphic features and developmental delay
3
Thrombocytopenia, anemia, and myelofibrosis
2
Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia
11
Thrombocytopenia, Paris-Trousseau Type
2
Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis
9
Thrombocytopenia, X-Linked
7
Thrombocytopenia-Absent Radius Syndrome
13
Thrombophilia Due To Activated Protein C Resistance
3
Thrombophilia Due to Protein S Deficiency, Autosomal Dominant
6
Thrombophilia Due to Protein S Deficiency, Autosomal Recessive
6
Thrombophilia Due to Thrombomodulin Defect
3
Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator
1
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
5
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive
5
Thrombophilia, X-Linked, Due To Factor IX Defect
2
Thrombosis, Susceptibility To
9
Thrombotic Thrombocytopenic Purpura
8
Thyroid Cancer, Follicular
12
Thyroid Cancer, Hurthle Cell
3
Thyroid Cancer, Nonmedullary, 4
1
Thyroid Cancer, Papillary
2
Thyroid Dyshormonogenesis 1
3
Thyroid Dyshormonogenesis 2A
3
Thyroid Dyshormonogenesis 3
3
Thyroid Dyshormonogenesis 4
2
Thyroid Dyshormonogenesis 5
3
Thyroid Dyshormonogenesis 6
6
Thyroid Hormone Metabolism, Abnormal
3
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
2
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
2
Thyroid Hormone Resistance, Selective Pituitary
2
Thyrotoxic Periodic Paralysis
2
Thyrotropin-Releasing Hormone Deficiency
2
Tietz Syndrome
6
Timothy Syndrome
16
Tnf Receptor-Associated Periodic Fever Syndrome (Traps)
9
Tobacco Addiction, Susceptibility To
6
Tolchin-Le Caignec syndrome
1
Tooth Agenesis, Selective, 1
6
Tooth Agenesis, Selective, 3
3
Tooth Agenesis, Selective, 4
3
Tooth agenesis, selective, 8
4
Tooth Agenesis, Selective, X-Linked, 1
3
Torg Winchester Syndrome
2
Total Hypotrichosis, Mari Type
1
Townes-Brocks Syndrome
14
Townes-Brocks syndrome 2
1
Traboulsi syndrome
4
Transcobalamin II Deficiency
9
Transferrin Serum Level Quantitative Trait Locus 2
1
Transient Bullous Dermolysis Of The Newborn
5
Transient Neonatal Diabetes Mellitus 1
2
Transient Neonatal Diabetes Mellitus 2
5
Transient Neonatal Diabetes Mellitus 3
4
Transposition Of Great Arteries
8
Transposition Of The Great Arteries, Dextro-Looped 3
6
Treacher Collins Syndrome
8
Treacher Collins Syndrome 2
8
Treacher Collins syndrome 3
9
Treacher-Collins syndrome 4
1
Tremor Hereditary Essential, 1
1
Tricho-Dento-Osseous Syndrome
3
Trichoepithelioma Multiple Familial 1
1
Trichohepatoenteric syndrome 1
5
Trichohepatoenteric syndrome 2
3
Trichohepatoneurodevelopmental syndrome
1
Trichorhinophalangeal Dysplasia Type I
3
Trichorhinophalangeal Syndrome Type 3
3
Trichothiodystrophy 2, photosensitive
8
Trichothiodystrophy 3, photosensitive
2
Trichothiodystrophy 5, nonphotosensitive
6
Trichothiodystrophy 6, nonphotosensitive
2
Trichothiodystrophy 7, nonphotosensitive
1
Trichothiodystrophy 8, nonphotosensitive
2
Trichothiodystrophy Photosensitive
7
Trichothiodystrophy, Nonphotosensitive 1
3
Trifunctional Protein Deficiency
15
Trigonocephaly 2
8
Trigonocephaly, Nonsyndromic
14
Trimethylaminuria
2
Triokinase and FMN cyclase deficiency syndrome
1
Tritanopia
1
Tropical Calcific Pancreatitis
2
Troyer Syndrome
8
Trypsinogen Deficiency
1
Tuberous Sclerosis 1
16
Tuberous Sclerosis 2
19
Tumor Predisposition Syndrome
6
Tumoral Calcinosis, Hyperphosphatemic, Familial
6
Tumoral calcinosis, hyperphosphatemic, familial, 2
4
Tumoral calcinosis, hyperphosphatemic, familial, 3
2
Tumoral Calcinosis, Normophosphatemic, Familial
6
Turcot Syndrome
13
Turnpenny-Fry syndrome
1
Tyrosinase-Positive Oculocutaneous Albinism
6
Tyrosine Hydroxylase Deficiency
7
Tyrosine Kinase 2 Deficiency
5
Tyrosinemia Type 2
4
Tyrosinemia Type I
7
Tyrosinemia, Type III
4
UDPglucose-4-Epimerase Deficiency
4
Ullrich Congenital Muscular Dystrophy
13
Ullrich Congenital Muscular Dystrophy 2
7
Ulna And Fibula Absence Of With Severe Limb Deficiency
7
Ulnar-Mammary Syndrome
7
Unverricht-Lundborg Syndrome
4
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
2
Urocanate Hydratase Deficiency
2
Urofacial Syndrome 1
3
Urofacial syndrome 2
2
Uruguay faciocardiomusculoskeletal syndrome
2
Usher Syndrome Type 3B
7
Usher Syndrome, Type 1
6
Usher Syndrome, Type 1D
6
Usher Syndrome, Type 1F
5
Usher syndrome, type 1M
2
Usher Syndrome, Type 2C
9
Usher Syndrome, Type 2D
6
Usher Syndrome, Type 3
4
Usher Syndrome, Type Ic
5
Usher Syndrome, Type Ig
5
Usher Syndrome, Type IIa
6
Usher Syndrome, Type IJ
5
Usher syndrome, type IV
4
Usmani-Riazuddin syndrome, autosomal dominant
2
Usmani-Riazuddin syndrome, autosomal recessive
2
UV-Sensitive Syndrome
6
UV-sensitive syndrome 2
5
Vacterl Association With Hydrocephalus
2
VACTERL Association With Hydrocephaly, X-Linked
7
Van Buchem Disease Type 2
5
Van Der Woude Syndrome
8
Van Der Woude Syndrome 2
5
Van Esch-O'Driscoll syndrome
2
Van Maldergem Syndrome 1
6
Van Maldergem Syndrome 2
10
Variegate Porphyria
6
Vas Deferens, Congenital Bilateral Aplasia of, X-linked
2
Vascular malformation, primary intraosseous
1
Vasculopathy, Retinal, With Cerebral Leukodystrophy
12
Vater Association
1
Velocardiofacial Syndrome
11
Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
1
Ventricular Fibrillation, Paroxysmal Familial, 2
2
Ventricular Septal Defect 1
9
Ventricular septal defect 2
2
Ventricular Septal Defect 3
12
Ventricular tachycardia, catecholaminergic polymorphic 6
5
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
7
Ventricular tachycardia, catecholaminergic polymorphic, 3
5
Ventriculomegaly and arthrogryposis
1
Ventriculomegaly with Cystic Kidney Disease
7
Verheij syndrome
4
Vertebral anomalies and variable endocrine and T-cell dysfunction
2
Vertebral, cardiac, renal, and limb defects syndrome 1
3
Vertebral, cardiac, renal, and limb defects syndrome 2
4
Vertebral, cardiac, renal, and limb defects syndrome 3
3
Ververi-Brady syndrome
1
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
12
Vesicoureteral Reflux 2
2
Vesicoureteral Reflux 3
2
Vesicoureteral Reflux 8
6
VEXAS syndrome, somatic
2
Vici Syndrome
14
Visceral myopathy
2
Visceral myopathy 2
4
Visceral neuropathy, familial, 1, autosomal recessive
1
VISS syndrome
2
Vissers-Bodmer syndrome
3
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
5
Vitamin D-Dependent Rickets, Type 1
6
Vitamin D-Dependent Rickets, Type 2
7
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
4
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2
3
Vitelliform Dystrophy
9
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
2
Vitreoretinochoroidopathy Dominant
8
Vitreoretinopathy with phalangeal epiphyseal dysplasia
4
Vitreoretinopathy, Neovascular Inflammatory
6
VLDLR-Associated Cerebellar Hypoplasia
6
Vohwinkel syndrome
4
Von Hippel-Lindau Syndrome
8
Von Willebrand Disease, Recessive Form
4
Von Willebrand Disease, Type 1
5
Von Willebrand Disease, Type 2
4
Waardenburg Syndrome Type 1
9
Waardenburg Syndrome, Type 2A
8
Waardenburg Syndrome, Type 2D
4
Waardenburg Syndrome, Type 2E
9
Waardenburg syndrome, type 2F
1
Waardenburg Syndrome, Type 4A
8
Waardenburg Syndrome, Type 4B
8
Waardenburg Syndrome, Type 4C
8
Wagner Syndrome
7
Waisman Syndrome
9
Walker-Warburg Congenital Muscular Dystrophy
18
Walker-Warburg Congenital Muscular Dystrophy
7
Warburg Micro Syndrome 1
12
Warburg Micro Syndrome 2
9
Warburg Micro Syndrome 3
9
Warburg Micro Syndrome 4
10
Warburg-Cinotti syndrome
3
Warsaw Breakage Syndrome
1
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis
6
Watson Syndrome
15
Weaver Syndrome
6
Webb-Dattani syndrome
3
Weill-Marchesani Syndrome 1
7
Weill-Marchesani Syndrome 2
18
Weill-Marchesani Syndrome 3
10
Weill-Marchesani-Like Syndrome
2
Weiss-Kruszka syndrome
1
Weissenbacher-Zweymuller Syndrome
1
Welander distal myopathy
3
Werner Syndrome
5
Weyers Acrofacial Dysostosis
10
WHIM syndrome 2
2
White-Sutton Syndrome
7
Wieacker-Wolff Syndrome
7
Wieacker-Wolff syndrome, female-restricted
4
Wiedemann-Rautenstrauch syndrome
8
Wiedemann-Steiner Syndrome
14
Wilms Tumor 6, Susceptibility to
4
Wilms Tumor And Radial Bilateral Aplasia
1
Wilms' Tumor
27
Wilson's Disease
9
Wilson-Turner syndrome
4
Winchester syndrome
2
Wiskott-Aldrich Syndrome
9
Wiskott-Aldrich Syndrome 2
5
Witteveen-Kolk Syndrome
4
Wolcott-Rallison Dysplasia
5
Wolff-Parkinson-White Pattern
8
Wolfram Syndrome 2
7
Wolfram-Like Syndrome, Autosomal Dominant
11
Wolman disease
1
Woodhouse-Sakati Syndrome
6
Woolly Hair, Autosomal Recessive 1
1
Worth Disease
6
Wrinkly Skin Syndrome
10
X-Linked Agammaglobulinemia
10
X-Linked Agammaglobulinemia With Growth Hormone Deficiency
7
X-Linked Anemia Without Thromobocytopenia
10
X-Linked Familial Atypical Mycobacteriosis, Type 1
6
X-Linked Hydrocephalus Syndrome
7
X-Linked Ichthyosis
2
X-Linked Infantile Nystagmus
4
X-Linked Lissencephaly
8
X-Linked Lissencephaly 2
15
X-Linked Periventricular Heterotopia
17
X-Linked Recessive Nephrolithiasis With Renal Failure
5
X-Linked Severe Combined Immunodeficiency
6
X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance
12
Xanthinuria, Type I
5
Xanthinuria, Type II
2
Xerocytosis Gardos
5
Xerocytosis, Hereditary
6
Xeroderma Pigmentosum Type 7
7
Xeroderma Pigmentosum, Complementation Group B
8
Xeroderma Pigmentosum, Complementation Group C
3
Xeroderma Pigmentosum, Complementation Group D
8
Xeroderma Pigmentosum, Complementation Group E
3
Xeroderma Pigmentosum, Complementation Group F
13
Xeroderma Pigmentosum, Type 1
5
Xeroderma Pigmentosum, Variant Type
3
XFE Progeroid Syndrome
12
Xia-Gibbs syndrome
7
Yao syndrome
2
Yoon-Bellen neurodevelopmental syndrome
1
You-Hoover-Fong syndrome
3
Young Simpson Syndrome
7
Yunis-Varon Syndrome
14
Zimmermann-Laband Syndrome 1
6
Zimmermann-Laband syndrome 2
1
Zimmermann-Laband syndrome 3
1
Zinc deficiency, transient neonatal
1
ZTTK Syndrome
5
[?Hypertryptophanemia]
1
[?Phosphohydroxylysinuria]
1
[Blood group, EMM system]
1
[Blood group, Langereis system]
2
[Dysalbuminemic hyperthyroxinemia]
1
[Eculizumab, poor response to]
1
[Interleukin 6, serum level of, QTL]
2
[Interleukin-6 receptor, soluble, serum level of, QTL]
2
[Low density lipoprotein cholesterol level QTL 3]
1
[Maleylacetoacetate isomerase deficiency]
3
[Proteinuria, chronic benign]
2
[Sedoheptulokinase deficiency]
1
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]
2
[Skin/hair/eye pigmentation, variation in, 8]
2
[Uridine-cytidineuria]
1
{?Epidermodysplasia verruciformis, susceptibility to, 4}
1
{?Erythroleukemia, familial, susceptibility to}
1
{?Pancreatic cancer, susceptibility to, 5}
2
{?Schizophrenia susceptibility 18}
1
{?Thyroid cancer, nonmedullary, 5}
1
{Autism, susceptibility to, 20}
1
{Diabetes mellitus, noninsulin-dependent, 5}
3
{Efavirenz central nervous system toxicity, susceptibility to}
1
{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}
1
{Encephalopathy, acute, infection-induced, susceptibility to, 9}
1
{Epilepsy, idiopathic generalized, susceptibility to, 15}
2
{Epilepsy, idiopathic generalized, susceptibility to, 16}
5
{Epilepsy, idiopathic generalized, susceptibility to, 17}
2
{Epilepsy, idiopathic generalized, susceptibility to, 18}
1
{Hydrocephalus, congenital, 5, susceptibility to}
1
{Parkinson disease 24, autosomal dominant, susceptibility to}
3
{Pregnancy loss, recurrent, susceptibility to, 1}
3
{Pregnancy loss, recurrent, susceptibility to, 2}
1
{Prostate cancer, hereditary, 2, susceptibility to}
5
{Prostate cancer, hereditary, 9}
1
{Renal dysplasia, cystic, susceptibility to}
3
{Rhabdomyolysis, susceptibility to, 1}
1
{Thiopurines, poor metabolism of, 2}
1
{Uveal melanoma, susceptibility to, 2}
1
{Warfarin sensitivity}
1
Tests Found: 5774
| Disease Name | Number of Tests Offered |
|---|---|
| 18 Hydroxylase Deficiency | 2 |
| 2,4-dienoyl-CoA reductase deficiency | 5 |
| 2-aminoadipic 2-oxoadipic aciduria | 3 |
| 2-Methyl-3-Hydroxybutyric Aciduria | 10 |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency | 5 |
| 3 Methylcrotonyl-CoA Carboxylase 1 Deficiency | 8 |
| 3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of | 7 |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | 10 |
| 3-M Syndrome | 2 |
| 3-Methylcrotonyl CoA Carboxylase 2 Deficiency | 10 |
| 3-Methylglutaconic Aciduria | 9 |
| 3-Methylglutaconic Aciduria Type 2 | 19 |
| 3-Methylglutaconic Aciduria Type 3 | 9 |
| 3-Methylglutaconic Aciduria Type V | 9 |
| 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome | 8 |
| 3-methylglutaconic aciduria, type IX | 6 |
| 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | 10 |
| 3-methylglutaconic aciduria, type VIIA, autosomal dominant | 2 |
| 3-methylglutaconic aciduria, type VIII | 9 |
| 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency | 7 |
| 3MC syndrome 1 | 5 |
| 3MC syndrome 2 | 4 |
| 46, XX sex reversal 4 | 2 |
| 46,XX sex reversal 5 | 3 |
| 46,XX Sex Reversal, Type 1 | 8 |
| 46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy | 2 |
| 46,XY Sex Reversal 8 | 6 |
| 46,XY Sex Reversal, Type 1 | 4 |
| 46,XY Sex Reversal, Type 2 | 3 |
| 46,XY Sex Reversal, Type 3 | 5 |
| 46,XY Sex Reversal, Type 5 | 4 |
| 46,XY Sex Reversal, Type 6 | 8 |
| 46,XY Sex Reversal, Type 7 | 6 |
| 46XY Sex Reversal 9 | 7 |
| 5-oxoprolinase deficiency | 1 |
| 5Q- Syndrome | 1 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | 5 |
| Aarskog Syndrome | 6 |
| ABCD Syndrome | 6 |
| Abdominal obesity-metabolic syndrome 3 | 3 |
| Ablepharon-macrostomia syndrome | 1 |
| Abnormal hair, joint laxity, and developmental delay | 1 |
| Abruzzo-Erickson syndrome | 3 |
| Acatalasemia | 1 |
| Aceruloplasminemia | 7 |
| Acetyl-CoA Acetyltransferase-2 Deficiency | 2 |
| Acetyl-CoA Carboxylase Deficiency | 1 |
| Acheiropody | 5 |
| Achondrogenesis Type 2 | 14 |
| Achondrogenesis, Type Ia | 4 |
| Achondrogenesis, Type Ib | 8 |
| Achondroplasia | 15 |
| Achromatopsia 2 | 5 |
| Achromatopsia 3 | 5 |
| Achromatopsia 4 | 5 |
| Achromatopsia 7 | 4 |
| Acne Inversa, Familial, 2 | 2 |
| Acne Inversa, Familial, 3 | 3 |
| Acquired Partial Lipodystrophy | 4 |
| Acrocallosal Syndrome, Schinzel Type | 20 |
| Acrocapitofemoral Dysplasia | 5 |
| Acrodermatitis Enteropathica | 5 |
| Acrodysostosis | 5 |
| Acrodysostosis 2, with or without Hormone Resistance | 7 |
| Acrofacial Dysostosis 1, Nager Type | 11 |
| Acrofacial dysostosis, Cincinnati type | 4 |
| Acrokeratosis Verruciformis Of Hopf | 1 |
| Acromelic frontonasal dysostosis | 4 |
| Acromesomelic Dysplasia Hunter Thompson Type | 6 |
| Acromesomelic Dysplasia Maroteaux Type | 4 |
| Acromicric Dysplasia | 15 |
| Acth Deficiency | 1 |
| ACTH Resistance | 3 |
| ACTH-independent macronodular adrenal hyperplasia | 3 |
| Acute Alcohol Sensitivity | 1 |
| Acute Intermittent Porphyria | 7 |
| Acute Lymphoblastic Leukemia | 7 |
| Adams-Oliver Syndrome 1 | 12 |
| Adams-Oliver Syndrome 2 | 12 |
| Adams-Oliver Syndrome 3 | 6 |
| Adams-Oliver Syndrome 4 | 10 |
| Adams-Oliver Syndrome 5 | 8 |
| Adams-Oliver Syndrome 6 | 8 |
| Adenine Phosphoribosyltransferase Deficiency | 3 |
| Adenomatous Polyposis Coli | 7 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes | 2 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To | 2 |
| Adenylosuccinate Lyase Deficiency | 10 |
| Adermatoglyphia | 1 |
| Adolescent Nephronophthisis | 11 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency | 3 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | 7 |
| Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete | 8 |
| Adrenocortical Carcinoma, Hereditary | 6 |
| Adrenoleukodystrophy | 13 |
| Adult Hypophosphatasia | 11 |
| Adult Onset Ataxia With Oculomotor Apraxia | 9 |
| Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant | 4 |
| ADULT Syndrome | 10 |
| Advanced sleep-phase syndrome, familial, 2 | 1 |
| Afibrinogenemia | 2 |
| Afibrinogenemia, congenital | 12 |
| Agammaglobulinemia 1 | 4 |
| Agammaglobulinemia 10, autosomal dominant | 2 |
| Agammaglobulinemia 2, Autosomal Recessive | 4 |
| Agammaglobulinemia 3, Autosomal Recessive | 4 |
| Agammaglobulinemia 4, Autosomal Recessive | 4 |
| Agammaglobulinemia 5, Autosomal Dominant | 4 |
| Agammaglobulinemia 6, Autosomal Recessive | 5 |
| Agammaglobulinemia 7, Autosomal Recessive | 10 |
| Agammaglobulinemia 8, autosomal dominant | 4 |
| AGAT Deficiency | 7 |
| Age-Related Macular Degeneration 1 | 7 |
| Age-Related Macular Degeneration 11 | 2 |
| Age-Related Macular Degeneration 4 | 7 |
| Age-Related Macular Degeneration 5 | 7 |
| Age-Related Macular Degeneration 6 | 3 |
| Age-Related Macular Degeneration 7 | 4 |
| Age-Related Macular Degeneration 9 | 3 |
| Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 6 |
| Agnathia-Otocephaly Complex | 4 |
| AICAR Transformylase/Imp Cyclohydrolase Deficiency | 2 |
| Aicardi-Goutieres Syndrome 1 | 12 |
| Aicardi-Goutieres Syndrome 2 | 10 |
| Aicardi-Goutieres Syndrome 3 | 10 |
| Aicardi-Goutieres Syndrome 4 | 10 |
| Aicardi-Goutieres Syndrome 5 | 10 |
| Aicardi-Goutieres Syndrome 6 | 7 |
| Aicardi-Goutieres Syndrome 7 | 10 |
| Aicardi-Goutieres syndrome 8 | 2 |
| Aicardi-Goutieres syndrome 9 | 2 |
| Al Kaissi syndrome | 1 |
| Al-Gazali syndrome | 5 |
| Al-Gazali-Bakalinova syndrome | 15 |
| Al-Raqad Syndrome | 1 |
| Alacrima, Achalasia, and Mental Retardation Syndrome | 5 |
| Alagille Syndrome 1 | 17 |
| Alagille Syndrome 2 | 15 |
| Aland Island Eye Disease | 6 |
| Alazami Syndrome | 3 |
| Alazami-Yuan Syndrome | 2 |
| Albinism, Ocular, With Sensorineural Deafness | 9 |
| Albinism, Oculocutaneous, Type VII | 4 |
| Alcohol Dependence | 2 |
| Alexander Disease | 8 |
| Alkaptonuria | 2 |
| Alkuraya-Kucinskas syndrome | 9 |
| Allan-Herndon-Dudley Syndrome | 8 |
| Alopecia-mental retardation syndrome 4 | 2 |
| Alpha Thalassemia | 6 |
| Alpha, Alpha-Trehalase Deficiency | 2 |
| Alpha-1-Antitrypsin Deficiency | 3 |
| Alpha-B Crystallinopathy | 7 |
| Alpha-Ketoglutarate Dehydrogenase Deficiency | 2 |
| Alpha-Methylacetoacetic Aciduria | 9 |
| Alpha-Methylacyl-CoA Racemase Deficiency | 9 |
| Alpha-Thalassemia Myelodysplasia Syndrome | 10 |
| Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity | 3 |
| Alport Syndrome, Autosomal Dominant | 7 |
| Alport Syndrome, Autosomal Recessive | 9 |
| Alport Syndrome, X-Linked Recessive | 7 |
| Alstrom Syndrome | 12 |
| Alternating Hemiplegia Of Childhood | 7 |
| Alternating Hemiplegia of Childhood 2 | 12 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins | 5 |
| Alzheimer's Disease | 11 |
| Alzheimer's Disease 9, Susceptibility to | 1 |
| Alzheimer's Disease, Type 2 | 5 |
| Alzheimer's Disease, Type 3 | 10 |
| Alzheimer's Disease, Type 4 | 9 |
| Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome | 3 |
| Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome | 1 |
| Amelogenesis Imperfecta, Hypomaturation Type, IIa1 | 2 |
| Amelogenesis Imperfecta, Hypomaturation Type, IIa2 | 2 |
| Amelogenesis Imperfecta, Hypomaturation Type, IIa3 | 2 |
| Amelogenesis imperfecta, hypomaturation type, IIA4 | 2 |
| Amelogenesis Imperfecta, Hypomaturation Type, IIA6 | 1 |
| Amelogenesis Imperfecta, Type IA | 2 |
| Amelogenesis Imperfecta, Type Ib | 2 |
| Amelogenesis Imperfecta, Type Ic | 2 |
| Amelogenesis Imperfecta, Type Ie | 4 |
| Amelogenesis imperfecta, type IF | 1 |
| Amelogenesis Imperfecta, Type IG (Enamel-Renal Syndrome) | 3 |
| Amelogenesis Imperfecta, Type IH | 1 |
| Amelogenesis Imperfecta, Type IIA5 | 1 |
| Amelogenesis Imperfecta, Type III | 2 |
| Amelogenesis imperfecta, type IIIB | 1 |
| Amelogenesis imperfecta, type IIIC | 1 |
| Amelogenesis imperfecta, type IJ | 1 |
| Amelogenesis imperfecta, type IK | 1 |
| Amelogenesis Imperfecta, Type IV | 3 |
| Aminoacylase 1 Deficiency | 7 |
| Amish Infantile Epilepsy Syndrome | 5 |
| Amish Lethal Microcephaly | 5 |
| Aml - Acute Myeloid Leukemia | 26 |
| Amyloidogenic Transthyretin Amyloidosis | 13 |
| Amyloidosis, Finnish Type | 6 |
| Amyotrophic Lateral Sclerosis 16, Juvenile | 6 |
| Amyotrophic lateral sclerosis 19 | 1 |
| Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | 3 |
| Amyotrophic lateral sclerosis 27, juvenile | 3 |
| Amyotrophic lateral sclerosis 5, juvenile | 7 |
| Amyotrophic Lateral Sclerosis Type 1 | 6 |
| Amyotrophic Lateral Sclerosis Type 10 | 6 |
| Amyotrophic Lateral Sclerosis Type 11 | 10 |
| Amyotrophic Lateral Sclerosis Type 12 | 5 |
| Amyotrophic Lateral Sclerosis Type 14 | 7 |
| Amyotrophic Lateral Sclerosis Type 15 | 5 |
| Amyotrophic Lateral Sclerosis Type 17 | 5 |
| Amyotrophic Lateral Sclerosis Type 18 | 4 |
| Amyotrophic Lateral Sclerosis Type 2 | 6 |
| Amyotrophic Lateral Sclerosis Type 20 | 3 |
| Amyotrophic Lateral Sclerosis Type 4 | 6 |
| Amyotrophic Lateral Sclerosis Type 6 | 5 |
| Amyotrophic Lateral Sclerosis Type 8 | 5 |
| Amyotrophic Lateral Sclerosis Type 9 | 2 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 9 |
| Amyotrophic Lateral Sclerosis, Susceptibility to, 25 | 5 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 | 1 |
| Amytrophic Lateral Sclerosis 23 | 3 |
| Analbuminemia | 1 |
| Anauxetic Dysplasia | 6 |
| Anauxetic dysplasia 2 | 2 |
| Anauxetic dysplasia 3 | 3 |
| Andermann Syndrome | 6 |
| Andersen Tawil Syndrome | 11 |
| Androgen Resistance Syndrome | 8 |
| Anemia Sideroblastic And Spinocerebellar Ataxia | 6 |
| Anemia, Hypochromic Microcytic, With Iron Overload | 1 |
| Anemia, hypochromic microcytic, with iron overload 2 | 1 |
| Anemia, neonatal hemolytic, fatal or near-fatal | 1 |
| Anemia, sideroblastic, 3, pyridoxine-refractory | 6 |
| Anemia, sideroblastic, 4 | 4 |
| Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive | 4 |
| Angelman Syndrome | 10 |
| Angioedema, hereditary, 4 | 1 |
| Angioedema, hereditary, 5 | 1 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 12 |
| Anhidrosis, isolated, with normal sweat glands | 1 |
| Aniridia 2 | 7 |
| Aniridia, Cerebellar Ataxia, And Mental Retardation | 6 |
| Anterior segment dysgenesis 6, multiple subtypes | 2 |
| Anterior segment dysgenesis 8 | 3 |
| Anterior Segment Mesenchymal Dysgenesis | 9 |
| Anti-Plasmin Deficiency, Congenital | 3 |
| Antithrombin III Deficiency | 3 |
| Antley-Bixler Syndrome | 13 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis | 11 |
| Aortic Aneurysm, Familial Thoracic 10 | 7 |
| Aortic Aneurysm, Familial Thoracic 11, susceptibility to | 8 |
| Aortic Aneurysm, Familial Thoracic 4 | 11 |
| Aortic Aneurysm, Familial Thoracic 6 | 10 |
| Aortic Aneurysm, Familial Thoracic 7 | 9 |
| Aortic Aneurysm, Familial Thoracic 8 | 7 |
| Aortic Aneurysm, Familial Thoracic 9 | 5 |
| Aortic valve disease 2 | 3 |
| Aortic valve disease 8 | 1 |
| Aortic Valve Disorder | 8 |
| Apert Syndrome | 14 |
| Aphakia, Congenital Primary | 12 |
| Aplasia cutis congenita, nonsyndromic | 1 |
| Aplasia Of Lacrimal And Salivary Glands | 3 |
| Aplastic Anemia | 11 |
| ApoA-I and apoC-III deficiency, combined | 6 |
| Apolipoprotein C2 Deficiency | 3 |
| Apparent Mineralocorticoid Excess | 4 |
| Arginase Deficiency | 11 |
| Argininosuccinate Lyase Deficiency | 6 |
| Aromatase Deficiency | 3 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 | 12 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 | 9 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 | 9 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 | 11 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 | 11 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 | 8 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 | 11 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 | 9 |
| Arrhythmogenic right ventricular dysplasia, familial, 13 | 5 |
| Arrhythmogenic right ventricular dysplasia, familial, 14 | 5 |
| Arterial Calcification Of Infancy | 11 |
| Arterial Calcification, Generalized, of Infancy, 2 | 10 |
| Arterial Tortuosity Syndrome | 9 |
| Arteriovenous Malformations Of The Brain | 9 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 4 |
| Arthrogryposis multiplex congenita 5 | 2 |
| Arthrogryposis Multiplex Congenita Distal Type 1 | 6 |
| Arthrogryposis Multiplex Congenita, Distal, X-Linked | 3 |
| Arthrogryposis multiplex congenita, myogenic type | 2 |
| Arthrogryposis multiplex congenita, neurogenic type | 1 |
| Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 3 |
| Arthrogryposis Renal Dysfunction Cholestasis Syndrome | 5 |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 3 |
| Arthrogryposis, Distal, Type 1B | 5 |
| Arthrogryposis, distal, type 1C | 1 |
| Arthrogryposis, Distal, Type 2B | 12 |
| Arthrogryposis, distal, type 2B2 | 3 |
| Arthrogryposis, distal, type 2B3 (Sheldon-Hall) | 6 |
| Arthrogryposis, Distal, Type 3 | 6 |
| Arthrogryposis, Distal, Type 5 | 6 |
| Arthrogryposis, distal, type 5D | 6 |
| Arthrogryposis, Distal, Type 7 | 5 |
| Arthrogryposis, Distal, Type 8 | 9 |
| Arthrogryposis, Distal, with Impaired Proprioception and Touch | 4 |
| Arthrogryposis, Mental Retardation, and Seizures | 2 |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 3 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 | 5 |
| Arts Syndrome | 7 |
| Asparagine synthetase deficiency | 5 |
| Aspartylglycosaminuria | 7 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 | 3 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 | 5 |
| Aspergillosis, Susceptibility To | 2 |
| Asplenia, isolated congenital | 3 |
| Asthma, Nasal Polyps, And Aspirin Intolerance | 2 |
| Ataxia With Vitamin E Deficiency | 4 |
| Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 4 |
| Ataxia, sensory, 1, autosomal dominant | 2 |
| Ataxia-Oculomotor Apraxia 3 | 3 |
| Ataxia-oculomotor apraxia 4 | 5 |
| Ataxia-Pancytopenia Syndrome | 8 |
| Ataxia-Telangiectasia Syndrome | 19 |
| Ataxia-Telangiectasia-Like Disorder | 11 |
| Ataxia-telangiectasia-like disorder 2 | 1 |
| Atelosteogenesis, type I | 5 |
| Atelosteogenesis, Type II | 9 |
| Atelosteogenesis, type III | 5 |
| Athabaskan Brainstem Dysgenesis | 5 |
| ATR-X Syndrome | 17 |
| Atransferrinemia | 1 |
| Atrial fibrillation 15 | 4 |
| Atrial Fibrillation, Familial, 10 | 7 |
| Atrial Fibrillation, Familial, 11 | 6 |
| Atrial Fibrillation, Familial, 12 | 10 |
| Atrial Fibrillation, Familial, 13 | 8 |
| Atrial Fibrillation, Familial, 14 | 7 |
| Atrial Fibrillation, Familial, 18 | 5 |
| Atrial Fibrillation, Familial, 3 | 8 |
| Atrial Fibrillation, Familial, 4 | 7 |
| Atrial Fibrillation, Familial, 6 | 6 |
| Atrial Fibrillation, Familial, 7 | 7 |
| Atrial Fibrillation, Familial, 9 | 9 |
| Atrial Myxoma, Familial | 7 |
| Atrial Septal Defect 2 | 9 |
| Atrial Septal Defect 3 | 8 |
| Atrial Septal Defect 4 | 5 |
| Atrial Septal Defect 5 | 7 |
| Atrial Septal Defect 6 | 2 |
| Atrial septal defect 8 | 2 |
| Atrial septal defect 9 | 7 |
| Atrial Septal Defect With Atrioventricular Conduction Defects | 12 |
| Atrial standstill 2 | 2 |
| Atrial standstill, digenic (GJA5/SCN5A) | 2 |
| Atrioventricular Septal Defect | 11 |
| Atrioventricular Septal Defect 2 | 6 |
| Atrioventricular Septal Defect 4 | 9 |
| Atrioventricular septal defect 5 | 7 |
| Attention Deficit-Hyperactivity Disorder | 1 |
| Attention deficit-hyperactivity disorder 8 | 1 |
| Atypical Hemolytic-Uremic Syndrome 1 | 6 |
| Atypical Hemolytic-Uremic Syndrome 2 | 2 |
| Atypical Hemolytic-Uremic Syndrome 3 | 2 |
| Atypical Hemolytic-Uremic Syndrome 4 | 4 |
| Atypical Hemolytic-Uremic Syndrome 5 | 4 |
| Atypical Hemolytic-Uremic Syndrome 6 | 4 |
| Atypical Mycobacteriosis, Familial | 3 |
| Atypical Mycobacteriosis, Familial, X-Linked 2 | 5 |
| Au-Kline syndrome | 5 |
| Auditory neuropathy and optic atrophy | 7 |
| Auditory neuropathy, autosomal dominant, 1 | 1 |
| Aural atresia, congenital | 1 |
| Auriculocondylar syndrome 1 | 3 |
| Auriculocondylar syndrome 2 | 4 |
| Auriculocondylar syndrome 3 | 2 |
| Autism 10 | 1 |
| Autism 15 | 5 |
| Autism 17 | 1 |
| Autism Susceptibility 1 | 3 |
| Autism, Susceptibility to, 18 | 6 |
| Autism, Susceptibility To, X-Linked 1 | 3 |
| Autism, Susceptibility To, X-Linked 2 | 5 |
| Autism, Susceptibility To, X-Linked 3 | 7 |
| Autism, Susceptibility to, X-linked 4 | 3 |
| Autism, Susceptibility To, X-Linked 5 | 4 |
| Autism, Susceptibility to, X-linked 6 | 2 |
| Autoimmune Disease 6 | 2 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 | 8 |
| Autoimmune disease, multisystem, infantile-onset, 2 | 3 |
| Autoimmune Disease, Syndromic Multisystem | 4 |
| Autoimmune interstitial lung, joint, and kidney disease | 3 |
| Autoimmune Lymphoproliferative Syndrome | 6 |
| Autoimmune Lymphoproliferative Syndrome, Type 2 | 4 |
| Autoimmune Lymphoproliferative Syndrome, Type III | 5 |
| Autoimmune Lymphoproliferative Syndrome, Type V | 5 |
| Autoimmune Thyroid Disease 3 | 1 |
| Autoinflammation with arthritis and dyskeratosis | 2 |
| Autoinflammation with episodic fever and lymphadenopathy | 3 |
| Autoinflammation with Infantile Enterocolitis | 5 |
| Autoinflammation, antibody deficiency, and immune dysregulation syndrome | 5 |
| Autoinflammation, immune dysregulation, and eosinophilia | 1 |
| Autoinflammation, panniculitis, and dermatosis syndrome | 2 |
| Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | 2 |
| Autoinflammatory disease, systemic, X-linked | 1 |
| Autoinflammatory Syndrome, Familial, Behcet-like | 4 |
| Autoinflammatory syndrome, familial, with or without immunodeficiency | 2 |
| Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | 2 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E | 6 |
| Autosomal Recessive Centronuclear Myopathy | 4 |
| Autosomal Recessive Cutis Laxa Type 3A | 11 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome | 3 |
| Autosomal Recessive Hypophosphatemic Bone Disease | 7 |
| Avascular Necrosis Of Femoral Head, Primary | 13 |
| Avascular necrosis of femoral head, primary, 2 | 4 |
| Avellino Corneal Dystrophy | 2 |
| Axenfeld-Rieger Syndrome Type 3 | 12 |
| Axenfeld-Rieger syndrome, type 1 | 15 |
| Ayme-Gripp Syndrome | 8 |
| Azorean Disease | 1 |
| B-cell expansion with NFKB and T-cell anergy | 4 |
| B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 1 |
| Bacteremia, Susceptibility To, 1 | 2 |
| Bainbridge-Ropers Syndrome | 6 |
| Baker-Gordon syndrome | 4 |
| Baller-Gerold Syndrome | 13 |
| Bamforth Syndrome | 2 |
| Band Heterotopia | 5 |
| Bannayan-Riley-Ruvalcaba Syndrome | 8 |
| Baraitser-Winter Syndrome 1 | 14 |
| Baraitser-Winter Syndrome 2 | 8 |
| Barakat Syndrome | 7 |
| Barber-Say Syndrome | 3 |
| Bardet-Biedl Syndrome 1 | 17 |
| Bardet-Biedl Syndrome 10 | 16 |
| Bardet-Biedl Syndrome 11 | 17 |
| Bardet-Biedl Syndrome 12 | 16 |
| Bardet-Biedl Syndrome 13 | 17 |
| Bardet-Biedl Syndrome 14 | 15 |
| Bardet-Biedl Syndrome 15 | 11 |
| Bardet-Biedl Syndrome 16 | 14 |
| Bardet-Biedl Syndrome 17 | 12 |
| Bardet-Biedl Syndrome 18 | 11 |
| Bardet-Biedl Syndrome 19 | 13 |
| Bardet-Biedl Syndrome 2 | 15 |
| Bardet-Biedl syndrome 20 | 4 |
| Bardet-Biedl Syndrome 20 | 9 |
| Bardet-Biedl Syndrome 21 | 11 |
| Bardet-Biedl Syndrome 3 | 16 |
| Bardet-Biedl Syndrome 4 | 16 |
| Bardet-Biedl Syndrome 5 | 17 |
| Bardet-Biedl Syndrome 6 | 19 |
| Bardet-Biedl Syndrome 7 | 16 |
| Bardet-Biedl Syndrome 8 | 15 |
| Bardet-Biedl Syndrome 9 | 16 |
| Bare Lymphocyte Syndrome, Type I | 2 |
| Barrett Esophagus | 3 |
| Bartter Syndrome Antenatal Type 1 | 6 |
| Bartter Syndrome Antenatal Type 2 | 5 |
| Bartter Syndrome Type 4 | 6 |
| Bartter syndrome, type 5, antenatal, transient | 2 |
| Basal cell carcinoma 7 | 6 |
| Basal Cell Carcinoma, Multiple | 8 |
| Basal cell nevus syndrome 2 | 2 |
| Basal Ganglia Calcification, Idiopathic, 1 | 3 |
| Basal Ganglia Calcification, Idiopathic, 4 | 8 |
| Basal Ganglia Calcification, Idiopathic, 5 | 5 |
| Basal Ganglia Calcification, Idiopathic, 6 | 4 |
| Basal ganglia cancification, idiopathic, 7, autosomal recessive | 2 |
| Basal Ganglia Disease, Biotin-Responsive | 12 |
| Basal Laminar Drusen | 6 |
| Basan syndrome | 2 |
| Basel-Vanagait-Smirin-Yosef Syndrome | 1 |
| Basilicata-Akhtar syndrome | 2 |
| Beck-Fahrner syndrome | 1 |
| Becker Muscular Dystrophy | 8 |
| Becker nevus, syndromic or isolated, somatic mosaic | 2 |
| Beckwith-Wiedemann Syndrome | 15 |
| Behr Syndrome | 9 |
| Benign Familial Hematuria | 5 |
| Benign Familial Neonatal Seizures 1 | 7 |
| Benign Familial Neonatal-Infantile Seizures | 9 |
| Benign Hereditary Chorea | 3 |
| Benign Recurrent Intrahepatic Cholestasis 1 | 5 |
| Benign Recurrent Intrahepatic Cholestasis 2 | 4 |
| Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy | 11 |
| Bent bone dysplasia syndrome | 13 |
| Bernard Soulier Syndrome | 11 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant | 7 |
| Bestrophinopathy, Autosomal Recessive | 9 |
| Beta Thalassemia, Dominant Inclusion Body Type | 1 |
| Beta-D-Mannosidosis | 7 |
| Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency | 7 |
| Beta-Ureidopropionase Deficiency | 4 |
| Bethlem Myopathy | 14 |
| Bethlem Myopathy | 7 |
| Bethlem Myopathy 2 | 9 |
| BH4-Deficient Hyperphenylalaninemia D | 5 |
| Bietti Crystalline Corneoretinal Dystrophy | 4 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies | 8 |
| Bile acid conjugation defect 1 | 1 |
| Bile Acid Malabsorption, Primary | 5 |
| Bile Acid Synthesis Defect, Congenital, 1 | 4 |
| Bile Acid Synthesis Defect, Congenital, 2 | 4 |
| Bile Acid Synthesis Defect, Congenital, 3 | 6 |
| Bile Acid Synthesis Defect, Congenital, 4 | 9 |
| Bile Acid Synthesis Defect, Congenital, 5 | 3 |
| Bile acid synthesis defect, congenital, 6 | 3 |
| Bilirubin, Serum Level Of, Quantitative Trait Locus 1 | 3 |
| Birk Barel Mental Retardation Dysmorphism Syndrome | 1 |
| Birk-Landau-Perez syndrome | 2 |
| Birt-Hogg-Dube Syndrome | 5 |
| Bjornstad Syndrome | 7 |
| Bladder Cancer | 15 |
| Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT | 1 |
| Bleeding Disorder, Platelet-Type, 11 | 3 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To | 3 |
| Bleeding Disorder, Platelet-Type, 14 | 2 |
| Bleeding Disorder, Platelet-Type, 15 | 4 |
| Bleeding disorder, platelet-type, 16, autosomal dominant | 6 |
| Bleeding Disorder, Platelet-Type, 17 | 4 |
| Bleeding Disorder, Platelet-Type, 18 | 1 |
| Bleeding Disorder, Platelet-Type, 19 | 4 |
| Bleeding disorder, platelet-type, 20 | 1 |
| Bleeding Disorder, Platelet-Type, 21 | 2 |
| Bleeding disorder, platelet-type, 22 | 2 |
| Bleeding disorder, platelet-type, 24, autosomal dominant | 2 |
| Bleeding Disorder, Platelet-Type, 8 | 5 |
| Bleeding Disorder, Platelet-Type, 9 | 2 |
| Blepharocheilodontic syndrome 1 | 7 |
| Blepharocheilodontic syndrome 2 | 3 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus | 8 |
| Blepharophimosis-impaired intellectual development syndrome | 4 |
| Blepharospasm | 1 |
| Blood Group, Cromer System | 2 |
| Blood Group--Diego System | 2 |
| Blood Group--Froese | 2 |
| Blood Group--I System | 2 |
| Blood Group--Lutheran Inhibitor | 4 |
| Blood Group--Ok | 1 |
| Blood Group--Swann System | 2 |
| Blood Group--Waldner Type | 2 |
| Blood Group--Wright Antigen | 2 |
| Bloom Syndrome | 9 |
| Body Mass Index Quantitative Trait Locus 12 | 5 |
| Body Mass Index Quantitative Trait Locus 4 | 2 |
| Body Mass Index Quantitative Trait Locus 9 | 1 |
| Bohring-Opitz Syndrome | 7 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness | 5 |
| Bone Marrow Failure Syndrome 1 | 8 |
| Bone Marrow Failure Syndrome 2 | 3 |
| Bone Marrow Failure Syndrome 3 | 8 |
| Bone marrow failure syndrome 4 | 2 |
| Bone marrow failure syndrome 5 | 4 |
| Bone Mineral Density QTL18, Osteoporosis | 6 |
| Bone Mineral Density Quantitative Trait Locus 1 | 5 |
| Boomerang Dysplasia | 5 |
| Borjeson-Forssman-Lehmann Syndrome | 11 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 6 |
| Bosma arhinia microphthalmia syndrome | 5 |
| Bothnia Retinal Dystrophy | 7 |
| Boucher-Neuhauser syndrome | 4 |
| Boudin-Mortier syndrome | 1 |
| Bowen-Conradi Syndrome | 3 |
| Brachycephaly, trichomegaly, and developmental delay | 1 |
| Brachydactyly Type A1 | 6 |
| Brachydactyly Type A2 | 9 |
| Brachydactyly Type C | 7 |
| Brachydactyly, type A1, C | 6 |
| Brachydactyly, Type A1, D | 4 |
| Brachydactyly, Type B1 | 7 |
| Brachydactyly, Type B2 | 7 |
| Brachydactyly, Type D | 8 |
| Brachydactyly, Type E1 | 8 |
| Brachydactyly, Type E2 | 3 |
| Brachydactyly-Syndactyly Syndrome | 8 |
| Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes | 6 |
| Brachyolmia Type 3 | 5 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 6 |
| Brain malformations with or without urinary tract defects | 4 |
| Brain small vessel disease 3 | 6 |
| Brain Small Vessel Disease With Hemorrhage | 3 |
| Branched-chain ketoacid dehydrogenase kinase deficiency | 5 |
| Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | 2 |
| Branchiooculofacial Syndrome | 8 |
| Branchiootic syndrome 1 | 9 |
| Branchiootic Syndrome 3 | 7 |
| Branchiootorenal Syndrome 1, with or without Cataracts | 10 |
| Branchiootorenal Syndrome 2 | 7 |
| Breast-Ovarian Cancer, Familial 1 | 17 |
| Breast-Ovarian Cancer, Familial 2 | 21 |
| Breast-Ovarian Cancer, Familial 3 | 13 |
| Breast-Ovarian Cancer, Familial 4 | 10 |
| Brittle Cornea Syndrome 1 | 7 |
| Brittle Cornea Syndrome 2 | 8 |
| Brody Myopathy | 2 |
| Bronchiectasis | 7 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 | 2 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 | 2 |
| Brown-Vialetto-Van Laere Syndrome | 9 |
| Brown-Vialetto-Van Laere syndrome 2 | 13 |
| Bruck syndrome 1 | 2 |
| Bruck Syndrome 2 | 7 |
| Brugada Syndrome 1 | 8 |
| Brugada Syndrome 2 | 8 |
| Brugada Syndrome 3 | 13 |
| Brugada Syndrome 4 | 9 |
| Brugada Syndrome 5 | 9 |
| Brugada Syndrome 6 | 7 |
| Brugada Syndrome 7 | 7 |
| Brugada Syndrome 8 | 10 |
| Brugada Syndrome 9 | 8 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 2 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 2 |
| Budd-Chiari Syndrome | 4 |
| Bulbo-Spinal Atrophy X-Linked | 3 |
| Burn-McKeown Syndrome | 2 |
| Butyrylcholinesterase Deficiency | 1 |
| C Syndrome | 1 |
| C1q Deficiency | 2 |
| Caffey Disease | 10 |
| Calcification Of Joints And Arteries | 2 |
| Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia | 3 |
| Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome | 3 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome | 15 |
| Camptomelic Dysplasia | 13 |
| Camptosynpolydactyly, Complex | 7 |
| Camurati-Engelmann Disease | 8 |
| Candidiasis, Familial, 2 | 3 |
| Candidiasis, Familial, 4 | 2 |
| Candidiasis, Familial, 5 | 2 |
| Candidiasis, Familial, 6 | 2 |
| Candidiasis, Familial, 7 | 5 |
| Candidiasis, familial, 8 | 1 |
| Candidiasis, familial, 9 | 2 |
| Capillary Malformation-Arteriovenous Malformation | 3 |
| Capillary malformation-arteriovenous malformation 2 | 3 |
| Capillary malformations, congenital, 1, somatic, mosaic | 1 |
| CAPOS syndrome | 11 |
| CARASIL Syndrome | 10 |
| Carbohydrate-Deficient Glycoprotein Syndrome Type II | 4 |
| Carcinoid Tumors, Intestinal | 4 |
| Cardiac Conduction Disease with or without Dilated Cardiomyopathy | 6 |
| Cardiac valvular defect, developmental | 3 |
| Cardiac Valvular Dysplasia, X-Linked | 17 |
| Cardiac, facial, and digital anomalies with developmental delay | 3 |
| Cardiac-urogenital syndrome | 6 |
| Cardio-Facio-Cutaneous Syndrome | 10 |
| Cardioacrofacial dysplasia 1 | 1 |
| Cardioacrofacial dysplasia 2 | 1 |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 | 14 |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 | 9 |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3 | 4 |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 4 | 4 |
| Cardiofaciocutaneous syndrome 2 | 14 |
| Cardiofaciocutaneous syndrome 3 | 9 |
| Cardiofaciocutaneous syndrome 4 | 8 |
| Cardiomyopathy Dilated With Woolly Hair And Keratoderma | 8 |
| Cardiomyopathy, Dilated, 1gg | 7 |
| Cardiomyopathy, Dilated, 1Hh | 7 |
| Cardiomyopathy, dilated, 1II | 6 |
| Cardiomyopathy, dilated, 1JJ | 5 |
| Cardiomyopathy, Dilated, 1KK | 8 |
| Cardiomyopathy, dilated, 1NN | 4 |
| Cardiomyopathy, Dilated, 1U | 3 |
| Cardiomyopathy, Dilated, 1V | 3 |
| Cardiomyopathy, Dilated, 2B | 4 |
| Cardiomyopathy, dilated, 2C | 6 |
| Cardiomyopathy, dilated, 2E | 1 |
| Cardiomyopathy, dilated, 2G | 3 |
| Cardiomyopathy, Dilated, 3B | 9 |
| Cardiomyopathy, familial hypertrophic | 3 |
| Cardiomyopathy, familial hypertrophic 27 | 6 |
| Cardiomyopathy, Familial Hypertrophic, 17 | 7 |
| Cardiomyopathy, Familial Hypertrophic, 19 | 1 |
| Cardiomyopathy, familial hypertrophic, 28 | 4 |
| Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | 3 |
| Cardiomyopathy, familial restrictive 5 | 8 |
| Cardiomyopathy, Familial Restrictive, 1 | 4 |
| Cardiomyopathy, Familial Restrictive, 3 | 4 |
| Cardiospondylocarpofacial Syndrome | 2 |
| Carey-Fineman-Ziter syndrome | 1 |
| Carney Complex Variant | 4 |
| Carney Complex, Type 1 | 7 |
| Carnitine Palmitoyltransferase I Deficiency | 9 |
| Carnitine Palmitoyltransferase II Deficiency, Infantile | 14 |
| Carnitine Palmitoyltransferase II Deficiency, Late-Onset | 14 |
| Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal | 14 |
| Carnitine-Acylcarnitine Translocase Deficiency | 10 |
| Carotid Intimal Medial Thickness 1 | 1 |
| Carpal Tunnel Syndrome | 6 |
| Carpal tunnel syndrome 2 | 1 |
| Carpenter Syndrome | 6 |
| Carpenter Syndrome 2 | 4 |
| Caspase-8 Deficiency | 4 |
| Cataract 10 | 5 |
| Cataract 11 | 7 |
| Cataract 12 | 4 |
| Cataract 13 | 4 |
| Cataract 14 | 5 |
| Cataract 15 | 5 |
| Cataract 16 | 6 |
| Cataract 17 | 5 |
| Cataract 18 | 4 |
| Cataract 19 | 5 |
| Cataract 2 | 5 |
| Cataract 20 | 4 |
| Cataract 21 | 9 |
| Cataract 22 | 5 |
| Cataract 23 | 6 |
| Cataract 3 | 5 |
| Cataract 30 | 4 |
| Cataract 31 | 5 |
| Cataract 33 | 5 |
| Cataract 34, multiple types | 9 |
| Cataract 36 | 4 |
| Cataract 38 | 11 |
| Cataract 39 | 5 |
| Cataract 4 | 4 |
| Cataract 41 | 8 |
| Cataract 42 | 2 |
| Cataract 43 | 2 |
| Cataract 44 | 3 |
| Cataract 45 | 3 |
| Cataract 46, juvenile-onset | 1 |
| Cataract 47 | 4 |
| Cataract 5 | 4 |
| Cataract 50 with or without glaucoma | 1 |
| Cataract 6 | 5 |
| Cataract 9 | 5 |
| Cataract, Congenital, X-Linked | 10 |
| Cataract, Zonular Pulverulent 1 | 6 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia | 6 |
| Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | 1 |
| Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | 1 |
| Cataracts, spastic paraparesis, and speech delay | 3 |
| Catecholaminergic Polymorphic Ventricular Tachycardia, 1 | 10 |
| Catecholaminergic Polymorphic Ventricular Tachycardia, 4 | 7 |
| Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness | 7 |
| Catel-Manzke Syndrome | 4 |
| CATSPER-Related Male Infertility | 4 |
| Caudal Duplication Anomaly | 1 |
| Cd59 Deficiency | 5 |
| Cd8 Deficiency, Familial | 2 |
| CEBALID syndrome | 2 |
| Celiac Disease 3 | 3 |
| Central areolar choroidal dystrophy 1 | 2 |
| Central Core Disease | 7 |
| Central hypoventilation syndrome, congenital, 3 | 1 |
| Central Precocious Puberty | 1 |
| Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency | 6 |
| Centronuclear myopathy 5 | 3 |
| Centronuclear myopathy 6 with fiber-type disproportion | 3 |
| Cerebellar ataxia and hypogonadotropic hypogonadism | 2 |
| Cerebellar Ataxia, Cayman Type | 1 |
| Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 4 |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 3 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 | 1 |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 3 |
| Cerebellar ataxia, nonprogressive, with mental retardation | 2 |
| Cerebellar atrophy with seizures and variable developmental delay | 3 |
| Cerebellar atrophy, developmental delay, and seizures | 6 |
| Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation | 7 |
| Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | 1 |
| Cerebellar, ocular, craniofacial, and genital syndrome | 3 |
| Cerebral Amyloid Angiopathy, App-Related | 4 |
| Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 | 9 |
| Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy | 10 |
| Cerebral Cavernous Malformations 1 | 7 |
| Cerebral Cavernous Malformations 2 | 7 |
| Cerebral Cavernous Malformations 3 | 4 |
| Cerebral cavernous malformations 4, somatic | 1 |
| Cerebral Creatine Deficiency Syndrome 1 | 6 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome | 3 |
| Cerebral Folate Deficiency | 10 |
| Cerebral Palsy, Spastic Quadriplegic, 1 | 5 |
| Cerebral Palsy, Spastic Quadriplegic, 2 | 4 |
| Cerebral palsy, spastic quadriplegic, 3 | 2 |
| Cerebro-Oculo-Facio-Skeletal Syndrome | 8 |
| Cerebrocostomandibular syndrome | 1 |
| Cerebrooculofacioskeletal Syndrome 2 | 9 |
| Cerebrooculofacioskeletal syndrome 3 | 8 |
| Cerebrooculofacioskeletal Syndrome 4 | 7 |
| Cerebroretinal Microangiopathy with Calcifications and Cysts | 13 |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 6 |
| Cerebroretinal microangiopathy with calcifications and cysts 3 | 1 |
| Cerebrotendinous Xanthomatosis | 17 |
| Ceroid Lipofuscinosis Neuronal 1 | 12 |
| Ceroid Lipofuscinosis Neuronal 10 | 10 |
| Ceroid Lipofuscinosis Neuronal 11 | 10 |
| Ceroid Lipofuscinosis Neuronal 12 | 10 |
| Ceroid Lipofuscinosis Neuronal 13 | 8 |
| Ceroid Lipofuscinosis Neuronal 14 | 10 |
| Ceroid Lipofuscinosis Neuronal 2 | 12 |
| Ceroid Lipofuscinosis Neuronal 3 | 10 |
| Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive | 8 |
| Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant | 9 |
| Ceroid Lipofuscinosis Neuronal 5 | 9 |
| Ceroid Lipofuscinosis Neuronal 6 | 9 |
| Ceroid Lipofuscinosis Neuronal 7 | 11 |
| Ceroid Lipofuscinosis Neuronal 8 | 10 |
| Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant | 9 |
| Cervical Cancer | 9 |
| Chanarin-Dorfman Syndrome | 7 |
| CHAND syndrome | 4 |
| Char Syndrome | 6 |
| Charcot-Marie-Tooth Disease Dominant Intermediate 3 | 5 |
| Charcot-Marie-Tooth Disease Type 2B | 6 |
| Charcot-Marie-Tooth Disease Type 2B1 | 12 |
| Charcot-Marie-Tooth Disease Type 2B2 | 6 |
| Charcot-Marie-Tooth Disease Type 2C | 11 |
| Charcot-Marie-Tooth Disease Type 2D | 8 |
| Charcot-Marie-Tooth Disease Type 2E | 6 |
| Charcot-Marie-Tooth Disease Type 2F | 7 |
| Charcot-Marie-Tooth Disease Type 2I | 6 |
| Charcot-Marie-Tooth Disease Type 2J | 6 |
| Charcot-Marie-Tooth Disease Type 2K | 5 |
| Charcot-Marie-Tooth disease, axonal, type 2A2B | 7 |
| Charcot-Marie-Tooth disease, axonal, type 2CC | 3 |
| Charcot-Marie-Tooth disease, axonal, type 2DD | 5 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 8 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 |
| Charcot-Marie-Tooth disease, axonal, type 2GG | 1 |
| Charcot-Marie-Tooth disease, axonal, type 2HH | 3 |
| Charcot-Marie-Tooth disease, axonal, type 2II | 2 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2O | 12 |
| Charcot-Marie-Tooth disease, axonal, type 2T | 3 |
| Charcot-Marie-Tooth disease, axonal, type 2V | 6 |
| Charcot-Marie-Tooth disease, axonal, type 2W | 6 |
| Charcot-Marie-Tooth disease, axonal, type 2X | 7 |
| Charcot-Marie-Tooth disease, axonal, type 2Z | 5 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive | 5 |
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 2 |
| Charcot-Marie-Tooth disease, demyelinating, type 1H | 1 |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | 2 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 1 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B | 8 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C | 6 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E | 5 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F | 6 |
| Charcot-Marie-Tooth disease, dominant intermediate G | 1 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A | 5 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B | 10 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C | 5 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D | 6 |
| Charcot-Marie-Tooth Disease, Type 1A | 5 |
| Charcot-Marie-Tooth Disease, Type 1D | 4 |
| Charcot-Marie-Tooth Disease, Type 1E | 5 |
| Charcot-Marie-Tooth Disease, Type 1F | 6 |
| Charcot-Marie-Tooth Disease, Type 2A1 | 4 |
| Charcot-Marie-Tooth Disease, Type 2A2 | 12 |
| Charcot-Marie-Tooth Disease, Type 2L | 8 |
| Charcot-Marie-Tooth Disease, Type 2N | 9 |
| Charcot-Marie-Tooth Disease, Type 2Q | 6 |
| Charcot-Marie-Tooth Disease, Type 2R | 5 |
| Charcot-Marie-Tooth Disease, Type 2S | 5 |
| Charcot-Marie-Tooth Disease, Type 2T | 1 |
| Charcot-Marie-Tooth Disease, Type 2U | 7 |
| Charcot-Marie-Tooth Disease, Type 2Y | 8 |
| Charcot-Marie-Tooth Disease, Type 3 | 8 |
| Charcot-Marie-Tooth Disease, Type 4A | 5 |
| Charcot-Marie-Tooth Disease, Type 4B1 | 8 |
| Charcot-Marie-Tooth Disease, Type 4B2 | 12 |
| Charcot-Marie-Tooth Disease, Type 4B3 | 10 |
| Charcot-Marie-Tooth Disease, Type 4C | 7 |
| Charcot-Marie-Tooth Disease, Type 4D | 6 |
| Charcot-Marie-Tooth Disease, Type 4E | 6 |
| Charcot-Marie-Tooth Disease, Type 4F | 8 |
| Charcot-Marie-Tooth Disease, Type 4H | 5 |
| Charcot-Marie-Tooth Disease, Type 4J | 15 |
| Charcot-Marie-Tooth Disease, Type 4K | 7 |
| Charcot-Marie-Tooth Disease, Type Ib | 6 |
| Charcot-Marie-Tooth Disease, Type IC | 4 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 | 5 |
| Charcot-Marie-Tooth Disease, X-linked Dominant, 6 | 7 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 | 11 |
| Charcot-Marie-Toothe Disease, Type 2P | 4 |
| CHARGE Association | 26 |
| Chediak-Higashi Syndrome | 16 |
| Cherubism | 5 |
| Chilblain lupus 2 | 5 |
| Chilblain Lupus Erythematosus | 7 |
| Child Syndrome | 9 |
| Childhood Hypophosphatasia | 11 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 1 |
| CHIME syndrome | 5 |
| Chitayat Syndrome | 4 |
| CHMP2B-Related Frontotemporal Dementia | 6 |
| Choanal Atresia And Lymphedema | 2 |
| Cholecystitis | 4 |
| Cholestasis Of Pregnancy | 4 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 4 |
| Cholestasis, Progressive Familial Intrahepatic 2 | 5 |
| Cholestasis, Progressive Familial Intrahepatic 3 | 6 |
| Cholestasis, Progressive Familial Intrahepatic 4 | 4 |
| Cholestasis, progressive familial intrahepatic, 5 | 3 |
| Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency | 7 |
| Chondrocalcinosis 2 | 3 |
| Chondrodysplasia Acromesomelic With Genital Anomalies | 4 |
| Chondrodysplasia Blomstrand Type | 3 |
| Chondrodysplasia Punctata 1, X-Linked Recessive | 4 |
| Chondrodysplasia Punctata 2 X-Linked Dominant | 11 |
| Chondrodysplasia with Joint Dislocations, Gpapp Type | 4 |
| Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia | 3 |
| Chondrosarcoma | 2 |
| Chopra-Amiel-Gordon syndrome | 1 |
| CHOPS Syndrome | 6 |
| Chorea, childhood-onset, with psychomotor retardation | 1 |
| Choreoacanthocytosis | 3 |
| Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | 6 |
| Choroid Plexus Papilloma | 9 |
| Choroidal Dystrophy, Central Areolar 2 | 5 |
| Choroideremia | 8 |
| Chromosome 9Q Deletion Syndrome | 8 |
| Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome | 7 |
| Chronic granulomatous disease 5, autosomal recessive | 2 |
| Chronic Infantile Neurological, Cutaneous And Articular Syndrome | 10 |
| Chronic Myeloid Leukemia | 1 |
| Chronic Obstructive Pulmonary Disease | 4 |
| Chudley-McCullough syndrome | 6 |
| Chylomicron Retention Disease | 4 |
| Ciliary Dyskinesia, Primary, 1 | 13 |
| Ciliary Dyskinesia, Primary, 10 | 10 |
| Ciliary Dyskinesia, Primary, 11 | 8 |
| Ciliary Dyskinesia, Primary, 12 | 8 |
| Ciliary Dyskinesia, Primary, 13 | 10 |
| Ciliary Dyskinesia, Primary, 14 | 10 |
| Ciliary Dyskinesia, Primary, 15 | 10 |
| Ciliary Dyskinesia, Primary, 16 | 9 |
| Ciliary Dyskinesia, Primary, 17 | 9 |
| Ciliary Dyskinesia, Primary, 18 | 9 |
| Ciliary Dyskinesia, Primary, 19 | 8 |
| Ciliary Dyskinesia, Primary, 2 | 10 |
| Ciliary Dyskinesia, Primary, 20 | 9 |
| Ciliary Dyskinesia, Primary, 21 | 7 |
| Ciliary Dyskinesia, Primary, 22 | 9 |
| Ciliary Dyskinesia, Primary, 23 | 7 |
| Ciliary Dyskinesia, Primary, 24 | 7 |
| Ciliary Dyskinesia, Primary, 25 | 7 |
| Ciliary Dyskinesia, Primary, 26 | 9 |
| Ciliary Dyskinesia, Primary, 27 | 7 |
| Ciliary Dyskinesia, Primary, 28 | 8 |
| Ciliary Dyskinesia, primary, 29 | 7 |
| Ciliary Dyskinesia, Primary, 3 | 9 |
| Ciliary Dyskinesia, Primary, 30 | 8 |
| Ciliary Dyskinesia, Primary, 32 | 7 |
| Ciliary Dyskinesia, Primary, 33 | 8 |
| Ciliary Dyskinesia, Primary, 34 | 7 |
| Ciliary Dyskinesia, Primary, 35 | 8 |
| Ciliary Dyskinesia, Primary, 36 | 5 |
| Ciliary Dyskinesia, Primary, 37 | 9 |
| Ciliary dyskinesia, primary, 38 | 9 |
| Ciliary dyskinesia, primary, 39 | 8 |
| Ciliary dyskinesia, primary, 40 | 9 |
| Ciliary dyskinesia, primary, 41 | 7 |
| Ciliary dyskinesia, primary, 42 | 8 |
| Ciliary dyskinesia, primary, 43 | 9 |
| Ciliary dyskinesia, primary, 45 | 8 |
| Ciliary dyskinesia, primary, 46 | 5 |
| Ciliary dyskinesia, primary, 5 | 5 |
| Ciliary Dyskinesia, Primary, 6 | 9 |
| Ciliary Dyskinesia, Primary, 7 | 10 |
| Ciliary Dyskinesia, Primary, 9 | 9 |
| CIMDAG syndrome | 2 |
| Citrin Deficiency | 10 |
| Citrullinemia Type I | 7 |
| Citrullinemia Type II | 10 |
| CK syndrome | 8 |
| CLAPO syndrome, somatic | 8 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome | 4 |
| Cleft Palate X-Linked | 3 |
| Cleft palate, cardiac defects, and mental retardation | 9 |
| Cleft palate, proliferative retinopathy, and developmental delay | 1 |
| Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features | 7 |
| Cleidocranial Dysostosis | 2 |
| CLOVE syndrome, somatic | 9 |
| COACH Syndrome | 15 |
| COACH syndrome 2 | 8 |
| COACH syndrome 3 | 5 |
| Cockayne Syndrome Type I | 9 |
| Cockayne Syndrome, Type B | 8 |
| Cocoon Syndrome | 5 |
| CODAS syndrome | 7 |
| Coenzyme Q10 Deficiency | 13 |
| Coenzyme Q10 Deficiency, Primary, 2 | 9 |
| Coenzyme Q10 deficiency, primary, 3 | 10 |
| Coenzyme Q10 Deficiency, Primary, 4 | 8 |
| Coenzyme Q10 Deficiency, Primary, 5 | 10 |
| Coenzyme Q10 deficiency, primary, 6 | 9 |
| Coenzyme Q10 Deficiency, Primary, 7 | 8 |
| Coenzyme Q10 Deficiency, Primary, 8 | 4 |
| Coenzyme Q10 deficiency, primary, 9 | 3 |
| Coffin-Lowry Syndrome | 4 |
| Coffin-Siris Syndrome 1 | 11 |
| Coffin-Siris syndrome 10 | 2 |
| Coffin-Siris Syndrome 2 | 10 |
| Coffin-Siris Syndrome 3 | 9 |
| Coffin-Siris Syndrome 4 | 13 |
| Coffin-Siris Syndrome 5 | 9 |
| Coffin-Siris syndrome 6 | 4 |
| Coffin-Siris syndrome 7 | 5 |
| Coffin-Siris syndrome 8 | 4 |
| Cognitive Impairment With Or Without Cerebellar Ataxia | 7 |
| Cohen Syndrome | 17 |
| Cohen-Gibson syndrome | 2 |
| Colchicine resistance | 1 |
| Cold-Induced Sweating Syndrome 1 | 2 |
| Cold-Induced Sweating Syndrome 3 | 3 |
| Cole Disease | 7 |
| Cole-Carpenter Syndrome 1 | 3 |
| Cole-Carpenter Syndrome 2 | 9 |
| Coloboma Of Optic Disc | 9 |
| Coloboma, Ocular | 11 |
| Coloboma, ocular, autosomal recessive | 2 |
| Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | 2 |
| Colorectal Cancer 1 | 2 |
| Colorectal cancer, susceptibility to, 10 | 11 |
| Colorectal cancer, susceptibility to, 12 | 9 |
| Combined Cellular And Humoral Immune Defects With Granulomas | 5 |
| Combined D-2- and L-2-HydroxyGlutaric Aciduria | 9 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 4 |
| Combined Immunodeficiency, X-Linked | 5 |
| Combined low LDL and fibrinogen | 1 |
| Combined Malonic And Methylmalonic Aciduria | 7 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 5 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 4 |
| Combined Oxidative Phosphorylation Deficiency 1 | 8 |
| Combined Oxidative Phosphorylation Deficiency 10 | 11 |
| Combined Oxidative Phosphorylation Deficiency 11 | 3 |
| Combined Oxidative Phosphorylation Deficiency 12 | 7 |
| Combined Oxidative Phosphorylation Deficiency 13 | 6 |
| Combined oxidative phosphorylation deficiency 14 | 9 |
| Combined Oxidative Phosphorylation Deficiency 15 | 8 |
| Combined Oxidative Phosphorylation Deficiency 16 | 2 |
| Combined Oxidative Phosphorylation Deficiency 17 | 7 |
| Combined Oxidative Phosphorylation Deficiency 18 | 4 |
| Combined Oxidative Phosphorylation Deficiency 19 | 2 |
| Combined Oxidative Phosphorylation Deficiency 2 | 2 |
| Combined Oxidative Phosphorylation Deficiency 20 | 6 |
| Combined Oxidative Phosphorylation Deficiency 21 | 2 |
| Combined Oxidative Phosphorylation Deficiency 22 | 4 |
| Combined Oxidative Phosphorylation Deficiency 23 | 4 |
| Combined Oxidative Phosphorylation Deficiency 24 | 7 |
| Combined Oxidative Phosphorylation Deficiency 25 | 4 |
| Combined Oxidative Phosphorylation Deficiency 26 | 4 |
| Combined Oxidative Phosphorylation Deficiency 27 | 5 |
| Combined oxidative phosphorylation deficiency 28 | 2 |
| Combined oxidative phosphorylation deficiency 29 | 3 |
| Combined Oxidative Phosphorylation Deficiency 3 | 10 |
| Combined Oxidative Phosphorylation Deficiency 30 | 3 |
| Combined oxidative phosphorylation deficiency 31 | 5 |
| Combined oxidative phosphorylation deficiency 32 | 3 |
| Combined oxidative phosphorylation deficiency 33 | 6 |
| Combined Oxidative Phosphorylation Deficiency 34 | 3 |
| Combined Oxidative Phosphorylation Deficiency 35 | 3 |
| Combined oxidative phosphorylation deficiency 36 | 4 |
| Combined oxidative phosphorylation deficiency 37 | 3 |
| Combined oxidative phosphorylation deficiency 38 | 2 |
| Combined oxidative phosphorylation deficiency 39 | 4 |
| Combined Oxidative Phosphorylation Deficiency 4 | 3 |
| Combined oxidative phosphorylation deficiency 40 | 2 |
| Combined oxidative phosphorylation deficiency 41 | 3 |
| Combined oxidative phosphorylation deficiency 42 | 2 |
| Combined oxidative phosphorylation deficiency 43 | 2 |
| Combined oxidative phosphorylation deficiency 44 | 4 |
| Combined oxidative phosphorylation deficiency 45 | 1 |
| Combined oxidative phosphorylation deficiency 47 | 2 |
| Combined oxidative phosphorylation deficiency 48 | 1 |
| Combined Oxidative Phosphorylation Deficiency 5 | 6 |
| Combined oxidative phosphorylation deficiency 50 | 1 |
| Combined oxidative phosphorylation deficiency 51 | 2 |
| Combined oxidative phosphorylation deficiency 52 | 1 |
| Combined oxidative phosphorylation deficiency 53 | 4 |
| Combined oxidative phosphorylation deficiency 56 | 2 |
| Combined oxidative phosphorylation deficiency 58 | 2 |
| Combined Oxidative Phosphorylation Deficiency 6 | 10 |
| Combined Oxidative Phosphorylation Deficiency 7 | 9 |
| Combined Oxidative Phosphorylation Deficiency 8 | 6 |
| Combined Oxidative Phosphorylation Deficiency 9 | 3 |
| Combined oxidative phosphorylation defiency 46 | 2 |
| Combined Saposin Deficiency | 7 |
| COMMAD syndrome | 5 |
| Common Variable Agammaglobulinemia | 5 |
| Complement Component 2 Deficiency | 3 |
| Complement Component 3 Deficiency, Autosomal Recessive | 4 |
| Complement Component 4, Partial Deficiency Of | 3 |
| Complement Component 6 Deficiency | 2 |
| Complement Component 7 Deficiency | 2 |
| Complement Component 8 Deficiency Type 1 | 2 |
| Complement Component 8 Deficiency Type 2 | 2 |
| Complement Component 9 Deficiency | 2 |
| Complement Component c1s Deficiency | 4 |
| Complement factor B deficiency | 4 |
| Complement Factor D Deficiency | 2 |
| Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | 3 |
| Complete Trisomy 21 Syndrome | 6 |
| Cone Dystrophy 3 | 4 |
| Cone Dystrophy 4 | 6 |
| Cone-Rod Dystrophy 10 | 4 |
| Cone-Rod Dystrophy 11 | 4 |
| Cone-Rod Dystrophy 12 | 5 |
| Cone-Rod Dystrophy 13 | 8 |
| Cone-rod dystrophy 14 | 3 |
| Cone-Rod Dystrophy 15 | 7 |
| Cone-rod dystrophy 16 | 15 |
| Cone-Rod Dystrophy 18 | 4 |
| Cone-Rod Dystrophy 19 | 3 |
| Cone-Rod Dystrophy 2 | 7 |
| Cone-Rod Dystrophy 20 | 5 |
| Cone-Rod Dystrophy 21 | 4 |
| Cone-Rod Dystrophy 3 | 6 |
| Cone-Rod Dystrophy 5 | 7 |
| Cone-Rod Dystrophy 6 | 7 |
| Cone-Rod Dystrophy 7 | 5 |
| Cone-Rod Dystrophy 9 | 5 |
| Cone-Rod Dystrophy and Hearing Loss | 3 |
| Cone-rod dystrophy and hearing loss 2 | 2 |
| Cone-Rod Dystrophy X-Linked 3 | 7 |
| Cone-Rod Dystrophy, X-Linked, 1 | 10 |
| Congenital Amegakaryocytic Thrombocytopenia | 7 |
| Congenital Aniridia | 12 |
| Congenital Anomalies of Kidney and Urinary Tract 2 | 2 |
| Congenital anomalies of kidney and urinary tract 3 | 3 |
| Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay | 5 |
| Congenital Anomalies of Kidney and Urinary Tract, Susceptibility to | 7 |
| Congenital Bilateral Absence Of The Vas Deferens | 8 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy | 10 |
| Congenital Cataracts, Hearing Loss, and Neurodegeneration | 10 |
| Congenital Central Hypoventilation syndrome | 20 |
| Congenital Contractural Arachnodactyly | 10 |
| Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay | 9 |
| Congenital Cystic Disease Of Liver | 6 |
| Congenital Disorder of Deglycosylation | 6 |
| Congenital Disorder Of Glycosylation Type 1A | 14 |
| Congenital Disorder Of Glycosylation Type 1B | 5 |
| Congenital Disorder Of Glycosylation Type 1C | 9 |
| Congenital Disorder Of Glycosylation Type 1D | 6 |
| Congenital Disorder Of Glycosylation Type 1E | 12 |
| Congenital Disorder Of Glycosylation Type 1F | 7 |
| Congenital Disorder Of Glycosylation Type 1G | 7 |
| Congenital Disorder Of Glycosylation Type 1H | 10 |
| Congenital Disorder Of Glycosylation Type 1I | 9 |
| Congenital Disorder Of Glycosylation Type 1J | 6 |
| Congenital Disorder Of Glycosylation Type 1K | 6 |
| Congenital Disorder Of Glycosylation Type 1L | 9 |
| Congenital Disorder Of Glycosylation Type 1M | 8 |
| Congenital Disorder Of Glycosylation Type 1O | 8 |
| Congenital Disorder Of Glycosylation Type 1P | 4 |
| Congenital Disorder Of Glycosylation Type 1Q | 5 |
| Congenital Disorder Of Glycosylation Type 2C | 7 |
| Congenital Disorder Of Glycosylation Type 2D | 3 |
| Congenital Disorder Of Glycosylation Type 2E | 4 |
| Congenital Disorder Of Glycosylation Type 2F | 5 |
| Congenital Disorder Of Glycosylation Type 2G | 3 |
| Congenital Disorder Of Glycosylation Type 2I | 5 |
| Congenital Disorder Of Glycosylation Type IIb | 7 |
| Congenital Disorder Of Glycosylation Type IIh | 3 |
| Congenital Disorder Of Glycosylation Type IIj | 7 |
| Congenital Disorder of Glycosylation Type IIk | 4 |
| Congenital Disorder of Glycosylation Type IIl | 7 |
| Congenital Disorder of Glycosylation Type IIm | 8 |
| Congenital Disorder of Glycosylation Type IIn | 3 |
| Congenital Disorder of Glycosylation Type IIo | 3 |
| Congenital Disorder of Glycosylation Type IIp | 2 |
| Congenital Disorder of Glycosylation Type IIq | 3 |
| Congenital Disorder Of Glycosylation Type In | 4 |
| Congenital Disorder of Glycosylation Type Ir | 2 |
| Congenital Disorder of Glycosylation Type It | 9 |
| Congenital Disorder of Glycosylation Type Iu | 9 |
| Congenital Disorder of Glycosylation Type Iw | 3 |
| Congenital Disorder of Glycosylation Type Ix | 3 |
| Congenital Disorder of Glycosylation Type Iy | 5 |
| Congenital disorder of glycosylation with defective fucosylation 1 | 4 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 2 |
| Congenital disorder of glycosylation, type 1aa | 4 |
| Congenital disorder of glycosylation, type Icc | 4 |
| Congenital disorder of glycosylation, type IIr | 4 |
| Congenital disorder of glycosylation, type IIt | 2 |
| Congenital disorder of glycosylation, type IIw | 2 |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 1 |
| Congenital Fiber Type Disproportion | 9 |
| Congenital Generalized Lipodystrophy Type 1 | 4 |
| Congenital Generalized Lipodystrophy Type 2 | 9 |
| Congenital Glucose-Galactose Malabsorption | 5 |
| Congenital heart defects and ectodermal dysplasia | 1 |
| Congenital heart defects and skeletal malformations syndrome | 3 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 5 |
| Congenital heart defects, hamartomas of tongue, and polysyndactyly | 7 |
| Congenital heart defects, multiple types, 4 | 5 |
| Congenital heart defects, multiple types, 5 | 4 |
| Congenital heart defects, multiple types, 7 | 1 |
| Congenital heart defects, multiple types, 8, with or without heterotaxy | 1 |
| Congenital heart defects, nonsyndromic, 2 | 3 |
| Congenital Human Immunodeficiency Virus | 4 |
| Congenital Hyperammonemia, Type I | 10 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 2 |
| Congenital Ichthyosis Of Skin | 3 |
| Congenital Lactase Deficiency | 5 |
| Congenital Microvillous Atrophy | 6 |
| Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 | 13 |
| Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B | 12 |
| Congenital Myasthenic Syndrome - RAPSN | 4 |
| Congenital Myasthenic Syndrome, Acetazolamide-Responsive | 5 |
| Congenital myopathy 10B, mild variant | 1 |
| Congenital myopathy 11 | 1 |
| Congenital myopathy 14 | 1 |
| Congenital myopathy 15 | 1 |
| Congenital myopathy 20 | 1 |
| Congenital myopathy 21 with early respiratory failure | 1 |
| Congenital myopathy 22A, classic | 1 |
| Congenital myopathy 22B, severe fetal | 1 |
| Congenital Myotonia, Autosomal Dominant Form | 3 |
| Congenital Secretory Diarrhea, Chloride Type | 4 |
| Congenital Secretory Diarrhea, Sodium Type | 6 |
| Congenital short bowel syndrome | 1 |
| Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic | 2 |
| Congenital Stromal Corneal Dystrophy | 3 |
| Conotruncal Heart Malformations | 19 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 6 |
| Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis | 10 |
| Cornea Plana 2 | 3 |
| Corneal Dystrophy And Perceptive Deafness | 1 |
| Corneal Dystrophy Fuchs Endothelial 1 | 4 |
| Corneal dystrophy, Fuchs endothelial, 3 | 7 |
| Corneal Dystrophy, Fuchs Endothelial, 4 | 1 |
| Corneal Dystrophy, Fuchs Endothelial, 6 | 4 |
| Corneal Dystrophy, Fuchs Endothelial, 8 | 3 |
| Corneal Dystrophy, Posterior Polymorphous, 2 | 4 |
| Corneal Dystrophy, Posterior Polymorphous, 3 | 3 |
| Corneal dystrophy, posterior polymorphous, 4 | 7 |
| Corneal Endothelial Dystrophy Type 2 | 2 |
| Corneal Epithelial Dystrophy | 2 |
| Corneal Opacification and Other Ocular Anomalies | 7 |
| Cornelia de Lange syndrome 1 | 16 |
| Cornelia de Lange syndrome 2 | 18 |
| Cornelia de Lange syndrome 3 | 13 |
| Cornelia de Lange syndrome 4 | 14 |
| Cornelia de Lange syndrome 5 | 12 |
| Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 1 |
| Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia | 2 |
| Corpus Callosum, Partial Agenesis Of, X-Linked | 6 |
| Cortical Dysplasia, Complex, With Other Brain Malformations | 10 |
| Cortical dysplasia, complex, with other brain malformations 10 | 4 |
| Cortical dysplasia, complex, with other brain malformations 12 | 1 |
| Cortical dysplasia, complex, with other brain malformations 2 | 7 |
| Cortical dysplasia, complex, with other brain malformations 3 | 7 |
| Cortical Dysplasia, Complex, with other Brain Malformations 4 | 7 |
| Cortical Dysplasia, Complex, with other Brain Malformations 5 | 5 |
| Cortical dysplasia, complex, with other brain malformations 6 | 5 |
| Cortical dysplasia, complex, with other brain malformations 9 | 4 |
| Cortical Dysplasia-Focal Epilepsy Syndrome | 9 |
| Cortical Malformations, Occipital | 3 |
| Corticosterone Methyloxidase Type II Deficiency | 2 |
| Cortisone reductase deficiency 2 | 1 |
| Costello Syndrome | 14 |
| Coumarin Resistance | 1 |
| Cousin Syndrome | 8 |
| Cowchock Syndrome | 10 |
| Cowden Disease | 25 |
| Cowden syndrome 3 | 3 |
| Cowden syndrome 5 | 13 |
| Cowden syndrome 6 | 3 |
| Cowden syndrome 7 | 5 |
| Cowden-Like Syndrome | 2 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant | 2 |
| Cranioectodermal Dysplasia | 9 |
| Cranioectodermal Dysplasia 2 | 11 |
| Cranioectodermal Dysplasia 3 | 6 |
| Cranioectodermal Dysplasia 4 | 7 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome | 4 |
| Craniofacial Deafness Hand Syndrome | 7 |
| Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 1 |
| Craniofrontonasal Dysplasia | 10 |
| Craniolenticulosutural Dysplasia | 3 |
| Craniometaphyseal Dysplasia, Autosomal Dominant | 3 |
| Craniometaphyseal dysplasia, autosomal recessive | 11 |
| Craniosynostosis 3 | 7 |
| Craniosynostosis 4 | 4 |
| Craniosynostosis 5, Susceptibility to | 4 |
| Craniosynostosis 6 | 2 |
| Craniosynostosis 7, susceptibility to | 1 |
| Craniosynostosis And Dental Anomalies | 3 |
| Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies | 1 |
| Craniosynostosis, Type 1 | 10 |
| Craniosynostosis, Type 2 | 5 |
| Creatine Phosphokinase, Elevated Serum | 3 |
| Crigler-Najjar Syndrome, Type I | 4 |
| Crigler-Najjar Syndrome, Type II | 4 |
| Crouzon Syndrome | 14 |
| Crouzon Syndrome With Acanthosis Nigricans | 13 |
| Cryohydrocytosis | 2 |
| Cryptophthalmos, unilateral or bilateral, isolated | 8 |
| Cryptorchidism, Unilateral Or Bilateral | 3 |
| Culler-Jones Syndrome | 13 |
| Currarino Syndrome | 5 |
| Curry-Jones syndrome, somatic mosaic | 4 |
| Cushing syndrome, ACTH-independent adrenal, somatic | 1 |
| Cushing's Symphalangism | 7 |
| Cutaneous Malignant Melanoma 1 | 4 |
| Cutaneous Telangiectasia and Cancer Syndrome, Familial | 6 |
| Cutis Gyrata Syndrome Of Beare And Stevenson | 10 |
| Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities | 6 |
| Cutis Laxa, Autosomal Dominant | 8 |
| Cutis Laxa, Autosomal Dominant 2 | 9 |
| Cutis Laxa, Autosomal Dominant 3 | 10 |
| Cutis Laxa, Autosomal Recessive, Type IA | 10 |
| Cutis Laxa, Autosomal Recessive, Type IB | 9 |
| Cutis Laxa, Autosomal Recessive, Type IIA | 11 |
| Cutis Laxa, Autosomal Recessive, Type IIB | 7 |
| Cutis Laxa, Autosomal Recessive, Type IIC | 4 |
| Cutis Laxa, Autosomal Recessive, Type IID | 6 |
| Cutis Laxa, Autosomal Recessive, Type IIIB | 6 |
| Cyclical Neutropenia | 7 |
| Cylindromatosis, Familial | 1 |
| Cystathioninuria | 2 |
| Cystic Fibrosis | 13 |
| Cystinosis | 5 |
| Cystinosis, Ocular Nonnephropathic | 5 |
| Cystinuria | 6 |
| Czech Dysplasia Metatarsal Type | 15 |
| D-2-Alpha Hydroxyglutaric Aciduria | 8 |
| D-2-Hydroxyglutaric Aciduria 2 | 7 |
| D-Bifunctional Protein Deficiency | 8 |
| D-lactic aciduria with susceptibility to gout | 1 |
| Danon Disease | 13 |
| De Sanctis-Cacchione Syndrome | 6 |
| Deafness , autosomal recessive 86 | 8 |
| Deafness and myopia | 2 |
| Deafness autosomal recessive 106 | 1 |
| Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm) | 3 |
| Deafness, Aminoglycoside-Induced | 3 |
| Deafness, Autosomal Dominant 1 | 7 |
| Deafness, Autosomal Dominant 10 | 5 |
| Deafness, Autosomal Dominant 11 | 3 |
| Deafness, Autosomal Dominant 12 | 3 |
| Deafness, Autosomal Dominant 13 | 9 |
| Deafness, Autosomal Dominant 15 | 2 |
| Deafness, Autosomal Dominant 17 | 8 |
| Deafness, Autosomal Dominant 20 | 5 |
| Deafness, Autosomal Dominant 22 | 7 |
| Deafness, Autosomal Dominant 23 | 4 |
| Deafness, Autosomal Dominant 25 | 2 |
| Deafness, autosomal dominant 27 | 2 |
| Deafness, Autosomal Dominant 28 | 5 |
| Deafness, Autosomal Dominant 2A | 3 |
| Deafness, Autosomal Dominant 2B | 4 |
| Deafness, autosomal dominant 34, with or without inflammation | 7 |
| Deafness, Autosomal Dominant 36 | 3 |
| Deafness, autosomal dominant 37 | 6 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 | 3 |
| Deafness, Autosomal Dominant 3A | 4 |
| Deafness, Autosomal Dominant 3B | 3 |
| Deafness, Autosomal Dominant 4 | 5 |
| Deafness, Autosomal Dominant 40 | 2 |
| Deafness, autosomal dominant 41 | 1 |
| Deafness, Autosomal Dominant 44 | 3 |
| Deafness, Autosomal Dominant 4B | 2 |
| Deafness, Autosomal Dominant 5 | 1 |
| Deafness, Autosomal Dominant 50 | 1 |
| Deafness, Autosomal Dominant 51 | 1 |
| Deafness, autosomal dominant 56 | 1 |
| Deafness, Autosomal Dominant 6 | 9 |
| Deafness, Autosomal Dominant 64 | 3 |
| Deafness, autosomal dominant 65 | 8 |
| Deafness, autosomal dominant 66 | 1 |
| Deafness, autosomal dominant 67 | 1 |
| Deafness, autosomal dominant 68 | 1 |
| Deafness, Autosomal Dominant 69 | 3 |
| Deafness, autosomal dominant 7 | 1 |
| Deafness, autosomal dominant 70 | 1 |
| Deafness, autosomal dominant 71 | 4 |
| Deafness, autosomal dominant 72 | 1 |
| Deafness, autosomal dominant 73 | 1 |
| Deafness, autosomal dominant 74 | 1 |
| Deafness, autosomal dominant 75 | 2 |
| Deafness, autosomal dominant 76 | 1 |
| Deafness, autosomal dominant 80 | 1 |
| Deafness, autosomal dominant 81 | 1 |
| Deafness, autosomal dominant 83 | 1 |
| Deafness, Autosomal Dominant 9 | 3 |
| Deafness, autosomal recessive 101 | 1 |
| Deafness, autosomal recessive 102 | 1 |
| Deafness, autosomal recessive 103 | 1 |
| Deafness, autosomal recessive 104 | 1 |
| Deafness, autosomal recessive 105 | 1 |
| Deafness, autosomal recessive 107 | 1 |
| Deafness, autosomal recessive 108 | 1 |
| Deafness, autosomal recessive 110 | 1 |
| Deafness, autosomal recessive 111 | 1 |
| Deafness, autosomal recessive 112 | 1 |
| Deafness, autosomal recessive 113 | 1 |
| Deafness, autosomal recessive 114 | 1 |
| Deafness, autosomal recessive 115 | 2 |
| Deafness, autosomal recessive 116 | 1 |
| Deafness, autosomal recessive 117 | 1 |
| Deafness, autosomal recessive 119 | 2 |
| Deafness, Autosomal Recessive 12 | 2 |
| Deafness, autosomal recessive 122 | 1 |
| Deafness, Autosomal Recessive 15 | 2 |
| Deafness, Autosomal Recessive 16 | 3 |
| Deafness, Autosomal Recessive 18 | 3 |
| Deafness, autosomal recessive 18B | 1 |
| Deafness, Autosomal Recessive 1A | 8 |
| Deafness, Autosomal Recessive 1B | 3 |
| Deafness, Autosomal Recessive 2 | 3 |
| Deafness, Autosomal Recessive 21 | 3 |
| Deafness, Autosomal Recessive 22 | 2 |
| Deafness, Autosomal Recessive 23 | 2 |
| Deafness, Autosomal Recessive 24 | 2 |
| Deafness, Autosomal Recessive 25 | 2 |
| Deafness, Autosomal Recessive 28 | 4 |
| Deafness, Autosomal Recessive 29 | 3 |
| Deafness, Autosomal Recessive 3 | 3 |
| Deafness, Autosomal Recessive 30 | 3 |
| Deafness, Autosomal Recessive 31 | 4 |
| Deafness, autosomal recessive 32, with or without immotile sperm | 1 |
| Deafness, Autosomal Recessive 35 | 3 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement | 2 |
| Deafness, Autosomal Recessive 37 | 5 |
| Deafness, Autosomal Recessive 39 | 3 |
| Deafness, Autosomal Recessive 42 | 3 |
| Deafness, autosomal recessive 44 | 1 |
| Deafness, Autosomal Recessive 48 | 3 |
| Deafness, Autosomal Recessive 49 | 2 |
| Deafness, Autosomal Recessive 53 | 8 |
| Deafness, autosomal recessive 57 | 3 |
| Deafness, Autosomal Recessive 59 | 3 |
| Deafness, Autosomal Recessive 6 | 2 |
| Deafness, Autosomal Recessive 61 | 3 |
| Deafness, Autosomal Recessive 63 | 2 |
| Deafness, autosomal recessive 66 | 4 |
| Deafness, Autosomal Recessive 67 | 4 |
| Deafness, autosomal recessive 68 | 1 |
| Deafness, Autosomal Recessive 7 | 3 |
| Deafness, autosomal recessive 70 | 5 |
| Deafness, Autosomal Recessive 74 | 2 |
| Deafness, autosomal recessive 76 | 1 |
| Deafness, Autosomal Recessive 77 | 3 |
| Deafness, Autosomal Recessive 79 | 1 |
| Deafness, Autosomal Recessive 8/10 | 2 |
| Deafness, Autosomal Recessive 84 | 1 |
| Deafness, autosomal recessive 84B | 1 |
| Deafness, autosomal recessive 88 | 1 |
| Deafness, autosomal recessive 89 | 6 |
| Deafness, Autosomal Recessive 9 | 3 |
| Deafness, Autosomal Recessive 91 | 2 |
| Deafness, autosomal recessive 93 | 1 |
| Deafness, autosomal recessive 94 | 6 |
| Deafness, autosomal recessive 97 | 1 |
| Deafness, autosomal recessive 98 | 2 |
| Deafness, autosomal recessive 99 | 1 |
| Deafness, congenital heart defects, and posterior embryotoxon | 11 |
| Deafness, congenital, and adult-onset progressive leukoencephalopathy | 3 |
| Deafness, congenital, with onychodystrophy, autosomal dominant | 1 |
| Deafness, Dystonia, and Cerebral Hypomyelination | 5 |
| Deafness, X-Linked 1 | 7 |
| Deafness, X-Linked 2 | 2 |
| Deafness, X-Linked 4 | 4 |
| Deafness, X-Linked 5 | 9 |
| Deafness, X-linked 6 | 6 |
| Deafness, X-linked 7 | 1 |
| DEEAH syndrome | 1 |
| Deficiency Of (R)-20-Hydroxysteroid Dehydrogenase | 1 |
| Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase | 10 |
| Deficiency Of Alpha-Mannosidase | 9 |
| Deficiency Of Aromatic-L-Amino-Acid Decarboxylase | 7 |
| Deficiency Of Butyryl-CoA Dehydrogenase | 9 |
| Deficiency Of Galactokinase | 7 |
| Deficiency Of Glycerate Kinase | 3 |
| Deficiency Of Guanidinoacetate Methyltransferase | 8 |
| Deficiency Of Isobutyryl-CoA Dehydrogenase | 3 |
| Deficiency Of Pyrroline-5-Carboxylate Reductase | 3 |
| Deficiency Of Ribose-5-Phosphate Isomerase | 3 |
| Deficiency Of Steroid 17-Alpha-Monooxygenase | 8 |
| Deficiency Of Transaldolase | 6 |
| Dementia Familial British | 5 |
| Dementia, Familial Danish | 5 |
| Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency | 6 |
| Dent Disease 1 | 9 |
| Dent Disease 2 | 13 |
| Dental Anomalies and Short Stature | 7 |
| Dentatorubral Pallidoluysian Atrophy | 3 |
| Dentici-Novelli neurodevelopmental syndrome | 1 |
| Denticles | 4 |
| Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth | 1 |
| Dentinogenesis Imperfecta - Shield's Type II | 4 |
| Dentinogenesis Imperfecta Shields Type 3 | 4 |
| Dermatitis, Atopic, 2 | 1 |
| Dermatofibrosarcoma protuberans | 3 |
| Dermatofibrosis Lenticularis Disseminata | 1 |
| Dermatopathia Pigmentosa Reticularis | 3 |
| Desanto-Shinawi syndrome | 5 |
| Desbuquois Dysplasia 2 | 5 |
| Desbuquois Syndrome | 7 |
| Desmoid Disease, Hereditary | 4 |
| Desmosterolosis | 11 |
| Developmental and epileptic encephalopathy 100 | 1 |
| Developmental and epileptic encephalopathy 101 | 1 |
| Developmental and epileptic encephalopathy 102 | 1 |
| Developmental and epileptic encephalopathy 103 | 2 |
| Developmental and epileptic encephalopathy 104 | 1 |
| Developmental and epileptic encephalopathy 105 with hypopituitarism | 1 |
| Developmental and epileptic encephalopathy 106 | 1 |
| Developmental and epileptic encephalopathy 107 | 1 |
| Developmental and epileptic encephalopathy 108 | 2 |
| Developmental and epileptic encephalopathy 109 | 1 |
| Developmental and epileptic encephalopathy 110 | 1 |
| Developmental and epileptic encephalopathy 111 | 1 |
| Developmental and epileptic encephalopathy 112 | 1 |
| Developmental and epileptic encephalopathy 114 | 1 |
| Developmental and epileptic encephalopathy 115 | 1 |
| Developmental and epileptic encephalopathy 31B, autosomal recessive | 1 |
| Developmental and Epileptic Encephalopathy 4 | 10 |
| Developmental and epileptic encephalopathy 6B, non-Dravet | 4 |
| Developmental and epileptic encephalopathy 79 | 1 |
| Developmental and epileptic encephalopathy 84 | 2 |
| Developmental and epileptic encephalopathy 86 | 1 |
| Developmental and epileptic encephalopathy 87 | 2 |
| Developmental and epileptic encephalopathy 89 | 3 |
| Developmental and epileptic encephalopathy 90 | 2 |
| Developmental and epileptic encephalopathy 96 | 1 |
| Developmental and epileptic encephalopathy 97 | 1 |
| Developmental and epileptic encephalopathy 98 | 4 |
| Developmental and epileptic encephalopathy 99 | 6 |
| Developmental Delay and Seizures with or without Movement Abnormalities | 6 |
| Developmental delay with dysmorphic facies and dental anomalies | 2 |
| Developmental delay with hypotonia, myopathy, and brain abnormalities | 2 |
| Developmental delay with or without dysmorphic facies and autism | 2 |
| Developmental delay with or without epilepsy | 3 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 4 |
| Developmental delay with variable neurologic and brain abnormalities | 2 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 |
| Developmental delay, dysmorphic facies, and brain anomalies | 1 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 2 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 3 |
| Developmental delay, impaired speech, and behavioral abnormalities | 2 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 |
| Developmental delay, intellectual disability, obesity, and dysmorphic features | 2 |
| Diabetes Insipidus, Nephrogenic, Autosomal | 5 |
| Diabetes Insipidus, Nephrogenic, X-Linked | 5 |
| Diabetes Insipidus, Neurohypophyseal | 3 |
| Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness | 13 |
| Diabetes Mellitus Type 1 | 6 |
| Diabetes Mellitus, Insulin-Dependent, 10 | 4 |
| Diabetes Mellitus, Insulin-Dependent, 12 | 3 |
| Diabetes Mellitus, Insulin-Dependent, 2 | 4 |
| Diabetes Mellitus, Insulin-Dependent, 20 | 4 |
| Diabetes Mellitus, Ketosis-Prone | 3 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism | 4 |
| Diabetes Mellitus, Noninsulin-Dependent | 31 |
| Diabetes Mellitus, Noninsulin-Dependent, 1 | 1 |
| Diabetes mellitus, permanent neonatal | 4 |
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | 6 |
| Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis | 6 |
| Diabetes, permanent neonatal 2, with or without neurologic features | 4 |
| Diamond Blackfan anemia 15 with mandibulofacial dysostosis | 5 |
| Diamond-Blackfan Anemia 1 | 9 |
| Diamond-Blackfan Anemia 10 | 8 |
| Diamond-Blackfan Anemia 11 | 8 |
| Diamond-Blackfan Anemia 12 | 9 |
| Diamond-Blackfan anemia 13 | 6 |
| Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 4 |
| Diamond-Blackfan anemia 16 | 6 |
| Diamond-Blackfan anemia 17 | 6 |
| Diamond-Blackfan anemia 18 | 5 |
| Diamond-Blackfan anemia 19 | 5 |
| Diamond-Blackfan anemia 20 | 5 |
| Diamond-Blackfan Anemia 3 | 8 |
| Diamond-Blackfan Anemia 4 | 8 |
| Diamond-Blackfan Anemia 5 | 8 |
| Diamond-Blackfan Anemia 6 | 8 |
| Diamond-Blackfan Anemia 7 | 8 |
| Diamond-Blackfan Anemia 8 | 9 |
| Diamond-Blackfan Anemia 9 | 8 |
| Diamond-Blackfan anemia-like | 3 |
| Diaphanospondylodysostosis | 3 |
| Diaphragmatic Hernia 3 | 5 |
| Diaphyseal medullary stenosis with malignant fibrous histiocytoma | 1 |
| Diarrhea 10, protein-losing enteropathy type | 2 |
| Diarrhea 12, with microvillus atrophy | 1 |
| Diarrhea 4, Malabsorptive, Congenital | 4 |
| Diarrhea 5, With Tufting Enteropathy, Congenital | 6 |
| Diarrhea 6 | 5 |
| Diarrhea 7, protein-losing enteropathy type | 5 |
| Diarrhea 8, secretory sodium, congenital | 3 |
| Diarrhea 9 | 1 |
| Dias-Logan Syndrome | 4 |
| Diastrophic Dysplasia | 9 |
| Dicarboxylic Aminoaciduria | 1 |
| Diencephalic-mesencephalic junction dysplasia syndrome 2 | 1 |
| Diets-Jongmans syndrome | 2 |
| Digeorge Sequence | 10 |
| Digital Clubbing, Isolated Congenital | 4 |
| Dihydrolipoamide dehydrogenase deficiency | 9 |
| Dihydropteridine Reductase Deficiency | 7 |
| Dihydropyrimidinase Deficiency | 4 |
| Dihydropyrimidine Dehydrogenase Deficiency | 6 |
| Dilated Cardiomyopathy 1A | 15 |
| Dilated Cardiomyopathy 1Aa | 9 |
| Dilated Cardiomyopathy 1BB | 3 |
| Dilated Cardiomyopathy 1C | 10 |
| Dilated Cardiomyopathy 1CC | 8 |
| Dilated Cardiomyopathy 1D | 5 |
| Dilated Cardiomyopathy 1DD | 7 |
| Dilated Cardiomyopathy 1E | 5 |
| Dilated Cardiomyopathy 1Ee | 7 |
| Dilated Cardiomyopathy 1FF | 4 |
| Dilated Cardiomyopathy 1G | 5 |
| Dilated Cardiomyopathy 1I | 7 |
| Dilated Cardiomyopathy 1J | 6 |
| Dilated Cardiomyopathy 1L | 8 |
| Dilated Cardiomyopathy 1M | 3 |
| Dilated Cardiomyopathy 1N | 8 |
| Dilated Cardiomyopathy 1O | 4 |
| Dilated Cardiomyopathy 1P | 7 |
| Dilated Cardiomyopathy 1R | 7 |
| Dilated Cardiomyopathy 1S | 9 |
| Dilated Cardiomyopathy 1W | 5 |
| Dilated Cardiomyopathy 1X | 11 |
| Dilated Cardiomyopathy 1Y | 8 |
| Dilated Cardiomyopathy 1Z | 3 |
| Dilated Cardiomyopathy 2A | 7 |
| Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | 3 |
| Dimethylglycine Dehydrogenase Deficiency | 2 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency | 7 |
| Distal Hereditary Motor Neuronopathy Type 2A | 5 |
| Distal Hereditary Motor Neuronopathy Type 2B | 5 |
| Distal Hereditary Motor Neuronopathy Type 5 | 9 |
| Distal Myopathy Markesbery-Griggs Type | 5 |
| Distichiasis-Lymphedema Syndrome | 5 |
| Dizygotic Twins | 2 |
| Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin | 5 |
| Dominant Hereditary Optic Atrophy | 13 |
| Donnai Barrow Syndrome | 6 |
| DOOR syndrome | 9 |
| Dopamine Beta Hydroxylase Deficiency | 3 |
| Dowling-Degos disease 2 | 1 |
| Dowling-Degos disease 4 | 2 |
| Doyne Honeycomb Retinal Dystrophy | 6 |
| Drash Syndrome | 10 |
| Duane retraction syndrome 3 | 5 |
| Duane Syndrome Type 2 | 3 |
| Duane-Radial Ray Syndrome | 12 |
| Dubin-Johnson Syndrome | 5 |
| Duchenne Muscular Dystrophy | 8 |
| Dworschak-Punetha neurodevelopmental syndrome | 1 |
| Dyggve-Melchior-Clausen Syndrome | 4 |
| Dyschromatosis universalis hereditaria 3 | 2 |
| Dyserythropoietic Anemia, Congenital, Type Ia | 7 |
| Dyserythropoietic Anemia, Congenital, Type Ib | 5 |
| Dyserythropoietic Anemia, Congenital, Type II | 8 |
| Dyserythropoietic Anemia, Congenital, Type IV | 7 |
| Dysfibrinogenemia, congenital | 6 |
| Dyskeratosis Congenita Autosomal Dominant | 9 |
| Dyskeratosis Congenita Autosomal Recessive | 7 |
| Dyskeratosis Congenita X-Linked | 12 |
| Dyskeratosis Congenita, Autosomal Dominant 4 | 9 |
| Dyskeratosis congenita, autosomal dominant 6 | 4 |
| Dyskeratosis Congenita, Autosomal Dominant, 2 | 12 |
| Dyskeratosis Congenita, Autosomal Dominant, 3 | 8 |
| Dyskeratosis Congenita, Autosomal Recessive 6 | 11 |
| Dyskeratosis Congenita, Autosomal Recessive, 2 | 7 |
| Dyskeratosis Congenita, Autosomal Recessive, 3 | 6 |
| Dyskinesia, familial, with facial myokymia | 1 |
| Dyskinesia, limb and orofacial, infantile-onset | 1 |
| Dyskinesia, Seizures, and Intellectual Developmental Disorder | 5 |
| Dyslexia 1 | 3 |
| Dyssegmental Dysplasia Silverman-Handmaker Type | 3 |
| Dystonia 1 | 5 |
| Dystonia 12 | 12 |
| Dystonia 16 | 3 |
| Dystonia 2, torsion, autosomal recessive | 1 |
| Dystonia 24 | 3 |
| Dystonia 25 | 3 |
| Dystonia 26, myoclonic | 1 |
| Dystonia 27 | 4 |
| Dystonia 28, childhood-onset | 2 |
| Dystonia 3, Torsion, X-Linked | 8 |
| Dystonia 32 | 2 |
| Dystonia 33 | 1 |
| Dystonia 35, childhood-onset | 1 |
| Dystonia 4, Torsion | 7 |
| Dystonia 5, Dopa-Responsive Type | 9 |
| Dystonia 6, Torsion | 3 |
| Dystonia 9 | 11 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 7 |
| Dystransthyretinemic Euthyroidal Hyperthyroxinemia | 6 |
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type | 3 |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 3 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 2 |
| Ectodermal Dysplasia 3, Witkop Type | 6 |
| Ectodermal Dysplasia Skin Fragility Syndrome | 4 |
| Ectodermal Dysplasia, 'Pure' Hair-Nail Type | 2 |
| Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema | 2 |
| Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant | 5 |
| Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy | 5 |
| Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant | 3 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 | 3 |
| Ectodermal Dysplasia/Short Stature Syndrome | 6 |
| Ectopia lentis et pupillae | 5 |
| Ectopia Lentis, Isolated Autosomal Recessive | 5 |
| Ectopia Lentis, Isolated, Autosomal Dominant | 16 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 | 13 |
| EDICT Syndrome | 3 |
| Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss | 7 |
| Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies | 6 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 4 |
| Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form | 10 |
| Ehlers-Danlos Syndrome, Classic Like, 2 | 6 |
| Ehlers-Danlos Syndrome, Hydroxylysine-Deficient | 7 |
| Ehlers-Danlos Syndrome, Musculocontractural Type | 9 |
| Ehlers-Danlos Syndrome, Musculocontractural Type 2 | 4 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 | 4 |
| Ehlers-Danlos Syndrome, Progeroid Type, 2 | 7 |
| Ehlers-Danlos Syndrome, Type 1 | 12 |
| Ehlers-Danlos Syndrome, Type 2 | 6 |
| Ehlers-Danlos Syndrome, Type 3 | 1 |
| Ehlers-Danlos Syndrome, Type 4 | 11 |
| Ehlers-Danlos Syndrome, Type VIIA and VIIB | 12 |
| Ehlers-Danlos Syndrome, Type VIIC | 4 |
| Ehlers-Danlos Syndrome, Type VIII | 5 |
| Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency | 4 |
| Eiken Skeletal Dysplasia | 2 |
| Elliptocytosis 1 | 2 |
| Elliptocytosis 2 | 4 |
| Elliptocytosis 3 | 2 |
| Ellis-van Creveld Syndrome | 15 |
| Elsahy-Waters syndrome | 3 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked | 9 |
| Emery-Dreifuss muscular dystrophy 3, AR | 10 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant | 5 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant | 1 |
| Emery-Dreifuss Muscular Dystrophy 7, AD | 4 |
| Emery-Dreifuss muscular dystrophy-6 | 6 |
| Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | 6 |
| Encephalocraniocutaneous lipomatosis | 8 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 6 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 | 2 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 | 2 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | 2 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 6 |
| Encephalopathy, Acute, Infection-Induced, 3, Suceptibility To | 3 |
| Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To | 9 |
| Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission | 12 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations | 8 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 5 |
| Encephalopathy, porphyria-related | 2 |
| Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | 5 |
| Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 4 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 5 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | 4 |
| Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | 1 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 4 |
| Encephalopathy, progressive, with or without lipodystrophy | 8 |
| Endocrine-Cerebroosteodysplasia | 7 |
| Endometrial Cancer | 9 |
| Endplate Acetylcholinesterase Deficiency | 4 |
| Enhanced S-Cone Syndrome | 2 |
| Enlarged Vestibular Aqueduct Syndrome | 11 |
| Enterokinase Deficiency | 1 |
| Epidermal Nevus | 17 |
| Epidermodysplasia Verruciformis | 2 |
| Epidermodysplasia verruciformis 2 | 1 |
| Epidermodysplasia verruciformis 3 | 2 |
| Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy | 7 |
| Epidermolysis Bullosa Herpetiformis, Dowling-Meara | 4 |
| Epidermolysis Bullosa Pruriginosa | 5 |
| Epidermolysis Bullosa Simplex | 2 |
| Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy | 3 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation | 2 |
| Epidermolysis bullosa simplex with nail dystrophy | 6 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia | 6 |
| Epidermolysis Bullosa Simplex, Autosomal Recessive | 3 |
| Epidermolysis Bullosa Simplex, Autosomal Recessive 2 | 5 |
| Epidermolysis Bullosa Simplex, Cockayne-Touraine Type | 8 |
| Epidermolysis Bullosa Simplex, Koebner Type | 4 |
| Epidermolysis Bullosa Simplex, Ogna Type | 7 |
| Epidermolysis Bullosa With Pyloric Atresia | 8 |
| Epidermolysis bullosa, junctional 2A, intermediate | 1 |
| Epidermolysis bullosa, junctional 2B, severe | 1 |
| Epidermolysis bullosa, junctional 4, intermediate | 1 |
| Epidermolysis Bullosa, Lethal Acantholytic | 5 |
| Epidermolysis Bullosa, Pretibial | 5 |
| Epidermolytic Hyperkeratosis | 5 |
| Epilepsy, Childhood Absence 2 | 5 |
| Epilepsy, Childhood Absence 5 | 10 |
| Epilepsy, Childhood Absence 6 | 1 |
| Epilepsy, early-onset, 3, with or without developmental delay | 1 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent | 3 |
| Epilepsy, early-onset, with or without developmental delay | 1 |
| Epilepsy, familial focal, with variable foci | 5 |
| Epilepsy, Familial Focal, with Variable Foci 2 | 3 |
| Epilepsy, Familial Focal, with Variable Foci 3 | 3 |
| Epilepsy, familial focal, with variable foci 4 | 4 |
| Epilepsy, Familial Temporal Lobe, 7 | 5 |
| Epilepsy, focal, with speech disorder and with or without mental retardation | 6 |
| Epilepsy, Hearing Loss, and Mental Retardation Syndrome | 5 |
| Epilepsy, Idiopathic Generalized 10 | 4 |
| Epilepsy, Idiopathic Generalized 8 | 5 |
| Epilepsy, Idiopathic Generalized 9 | 2 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 | 3 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 3 |
| Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 | 10 |
| Epilepsy, Juvenile Myoclonic 5 | 7 |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | 5 |
| Epilepsy, Lateral Temporal Lobe, Autosomal Dominant | 4 |
| Epilepsy, myoclonic, familial adult, 4 | 1 |
| Epilepsy, Myoclonic, Familial Adult, 5 | 2 |
| Epilepsy, nocturnal frontal lobe, 5 | 6 |
| Epilepsy, Nocturnal Frontal Lobe, Type 1 | 3 |
| Epilepsy, Nocturnal Frontal Lobe, Type 3 | 3 |
| Epilepsy, Nocturnal Frontal Lobe, Type 4 | 3 |
| Epilepsy, Progressive Myoclonic 3 | 9 |
| Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure | 8 |
| Epilepsy, Progressive Myoclonic 6 | 7 |
| Epilepsy, Progressive Myoclonic 7 | 3 |
| Epilepsy, Progressive Myoclonic, 10 | 1 |
| Epilepsy, progressive myoclonic, 11 | 1 |
| Epilepsy, progressive myoclonic, 12 | 1 |
| Epilepsy, Progressive Myoclonic, 8 | 3 |
| Epilepsy, Progressive Myoclonic, 9 | 4 |
| Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | 9 |
| Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | 1 |
| Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders | 6 |
| Epileptic encephalopathy, childhood-onset | 6 |
| Epileptic encephalopathy, early infantile, 1 | 11 |
| Epileptic Encephalopathy, Early Infantile, 10 | 7 |
| Epileptic Encephalopathy, Early Infantile, 11 | 10 |
| Epileptic Encephalopathy, Early Infantile, 12 | 6 |
| Epileptic Encephalopathy, Early Infantile, 13 | 9 |
| Epileptic encephalopathy, early infantile, 14 | 6 |
| Epileptic Encephalopathy, Early Infantile, 15 | 5 |
| Epileptic Encephalopathy, Early Infantile, 16 | 10 |
| Epileptic Encephalopathy, Early Infantile, 17 | 7 |
| Epileptic encephalopathy, early infantile, 18 | 6 |
| Epileptic Encephalopathy, Early Infantile, 19 | 7 |
| Epileptic Encephalopathy, Early Infantile, 2 | 9 |
| Epileptic Encephalopathy, Early Infantile, 21 | 3 |
| Epileptic Encephalopathy, Early Infantile, 23 | 3 |
| Epileptic Encephalopathy, Early Infantile, 24 | 8 |
| Epileptic Encephalopathy, Early Infantile, 25 | 8 |
| Epileptic Encephalopathy, Early Infantile, 26 | 6 |
| Epileptic Encephalopathy, Early Infantile, 27 | 12 |
| Epileptic Encephalopathy, Early Infantile, 28 | 6 |
| Epileptic Encephalopathy, Early Infantile, 29 | 5 |
| Epileptic Encephalopathy, Early Infantile, 3 | 6 |
| Epileptic Encephalopathy, Early Infantile, 31 | 5 |
| Epileptic Encephalopathy, Early Infantile, 32 | 7 |
| Epileptic Encephalopathy, Early Infantile, 33 | 4 |
| Epileptic Encephalopathy, Early Infantile, 34 | 3 |
| Epileptic Encephalopathy, Early Infantile, 35 | 5 |
| Epileptic Encephalopathy, Early Infantile, 36 | 8 |
| Epileptic Encephalopathy, Early Infantile, 37 | 5 |
| Epileptic Encephalopathy, Early Infantile, 38 | 3 |
| Epileptic Encephalopathy, Early Infantile, 39 | 6 |
| Epileptic Encephalopathy, Early Infantile, 40 | 3 |
| Epileptic Encephalopathy, Early Infantile, 41 | 5 |
| Epileptic Encephalopathy, Early Infantile, 42 | 8 |
| Epileptic Encephalopathy, Early Infantile, 43 | 9 |
| Epileptic Encephalopathy, Early Infantile, 44 | 4 |
| Epileptic Encephalopathy, Early Infantile, 45 | 5 |
| Epileptic Encephalopathy, Early Infantile, 46 | 6 |
| Epileptic Encephalopathy, Early Infantile, 47 | 4 |
| Epileptic Encephalopathy, Early Infantile, 48 | 5 |
| Epileptic Encephalopathy, Early Infantile, 49 | 3 |
| Epileptic Encephalopathy, Early Infantile, 5 | 8 |
| Epileptic Encephalopathy, Early Infantile, 50 | 5 |
| Epileptic Encephalopathy, Early Infantile, 51 | 6 |
| Epileptic encephalopathy, early infantile, 52 | 7 |
| Epileptic Encephalopathy, Early Infantile, 53 | 8 |
| Epileptic Encephalopathy, Early Infantile, 54 | 6 |
| Epileptic Encephalopathy, Early Infantile, 55 | 5 |
| Epileptic Encephalopathy, Early Infantile, 56 | 4 |
| Epileptic encephalopathy, early infantile, 57 | 3 |
| Epileptic Encephalopathy, Early Infantile, 58 | 4 |
| Epileptic Encephalopathy, Early Infantile, 59 | 4 |
| Epileptic encephalopathy, early infantile, 60 | 4 |
| Epileptic encephalopathy, early infantile, 61 | 2 |
| Epileptic Encephalopathy, Early Infantile, 62 | 6 |
| Epileptic encephalopathy, early infantile, 63 | 3 |
| Epileptic encephalopathy, early infantile, 64 | 6 |
| Epileptic encephalopathy, early infantile, 65 | 4 |
| Epileptic encephalopathy, early infantile, 66 | 3 |
| Epileptic encephalopathy, early infantile, 67 | 4 |
| Epileptic encephalopathy, early infantile, 68 | 3 |
| Epileptic encephalopathy, early infantile, 69 | 3 |
| Epileptic Encephalopathy, Early Infantile, 7 | 8 |
| Epileptic encephalopathy, early infantile, 70 | 3 |
| Epileptic encephalopathy, early infantile, 71 | 5 |
| Epileptic encephalopathy, early infantile, 72 | 2 |
| Epileptic encephalopathy, early infantile, 73 | 2 |
| Epileptic encephalopathy, early infantile, 74 | 5 |
| Epileptic encephalopathy, early infantile, 75 | 4 |
| Epileptic encephalopathy, early infantile, 76 | 4 |
| Epileptic encephalopathy, early infantile, 77 | 5 |
| Epileptic encephalopathy, early infantile, 78 | 1 |
| Epileptic Encephalopathy, Early Infantile, 8 | 7 |
| Epileptic encephalopathy, early infantile, 80 | 3 |
| Epileptic encephalopathy, early infantile, 81 | 4 |
| Epileptic encephalopathy, early infantile, 82 | 3 |
| Epileptic encephalopathy, early infantile, 83 | 3 |
| Epileptic encephalopathy, early infantile, 85, with or without midline brain defects | 8 |
| Epileptic Encephalopathy, Early Infantile, 9 | 7 |
| Epileptic Encephalopathy, Infantile or Early Childhood, 1 | 3 |
| Epileptic Encephalopathy, Infantile or Early Childhood, 2 | 6 |
| Epileptic Encephalopathy, Infantile or Early Childhood, 3 | 6 |
| Epiphyseal chondrodysplasia, Miura type | 4 |
| Epiphyseal dysplasia, multiple, 7 | 7 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness | 14 |
| Episodic Ataxia Type 1 | 6 |
| Episodic Ataxia Type 2 | 8 |
| Episodic Ataxia, Type 5 | 2 |
| Episodic Ataxia, Type 6 | 6 |
| Episodic ataxia, type 9 | 5 |
| Episodic Kinesigenic Dyskinesia 1 | 9 |
| Episodic Pain Syndrome, Familial, 2 | 5 |
| Episodic Pain Syndrome, Familial, 3 | 5 |
| Epithelial recurrent erosion dystrophy | 2 |
| Epstein Syndrome | 3 |
| Erythrocyte Amp Deaminase Deficiency | 1 |
| Erythrocyte Lactate Transporter Defect | 3 |
| Erythrocytosis 6 | 1 |
| Erythrocytosis, 7 | 1 |
| Erythrocytosis, Familial, 2 | 4 |
| Erythrocytosis, familial, 5 | 3 |
| Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE | 2 |
| Erythroderma, Ichthyosiform, Congenital Reticular | 4 |
| Erythrokeratodermia Variabilis Et Progressiva | 4 |
| Erythrokeratodermia variabilis et progressiva 3 | 9 |
| Erythrokeratodermia variabilis et progressiva 4 | 1 |
| Erythrokeratodermia veriabilis et progressiva 6 | 1 |
| Erythropoietic Protoporphyria | 4 |
| Escobar Syndrome | 5 |
| Esophageal Cancer | 14 |
| Essential Hypertension | 9 |
| Essential Pentosuria | 1 |
| Essential Thrombocythemia | 7 |
| Essential tremor, hereditary, 4 | 1 |
| Essential tremor, hereditary, 5 | 2 |
| Estrogen resistance | 1 |
| Ethylmalonic Encephalopathy | 8 |
| eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant | 4 |
| Even-plus syndrome | 4 |
| Exercise intolerance, riboflavin-responsive | 3 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis | 1 |
| Exostoses, Multiple, Type I | 6 |
| Exostoses, Multiple, Type II | 9 |
| Extraoral halitosis due to MTO deficiency | 1 |
| Exudative Vitreoretinopathy 2, X-Linked | 12 |
| Exudative Vitreoretinopathy 4 | 8 |
| Exudative Vitreoretinopathy 5 | 5 |
| Exudative Vitreoretinopathy 6 | 5 |
| Exudative Vitreoretinopathy 7 | 8 |
| Fabry's Disease | 16 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 2 |
| Facial Paresis, Hereditary Congenital, 3 | 1 |
| Facioscapulohumeral Muscular Dystrophy 2 | 7 |
| Facioscapulohumeral muscular dystrophy 4, digenic | 1 |
| Factor H Deficiency | 6 |
| Factor V And Factor VIII, Combined Deficiency Of, 1 | 6 |
| Factor V And Factor VIII, Combined Deficiency Of, 2 | 4 |
| Factor V Deficiency | 6 |
| Factor VII Deficiency | 6 |
| Factor X Deficiency | 6 |
| Factor XII Deficiency Disease | 2 |
| Factor XIII, A Subunit, Deficiency Of | 8 |
| Factor XIII, B Subunit, Deficiency Of | 6 |
| Failure Of Tooth Eruption, Primary | 2 |
| Fallot Tetralogy | 31 |
| Familial Adenomatous Polyposis 3 | 4 |
| Familial Adenomatous Polyposis 4 | 3 |
| Familial Amyloid Nephropathy With Urticaria And Deafness | 10 |
| Familial Benign Hypercalcemia | 7 |
| Familial Benign Pemphigus | 1 |
| Familial Cancer Of Breast | 28 |
| Familial Cold Autoinflammatory Syndrome 2 | 5 |
| Familial cold autoinflammatory syndrome 3 | 4 |
| Familial cold autoinflammatory syndrome 4 | 4 |
| Familial Cold Urticaria | 10 |
| Familial Colorectal Cancer | 30 |
| Familial digital arthropathy with brachydactyly | 5 |
| Familial Dysautonomia | 6 |
| Familial Encephalopathy With Neuroserpin Inclusion Bodies | 2 |
| Familial Erythrocytosis, 1 | 5 |
| Familial Exudative Vitreoretinopathy | 7 |
| Familial Gynecomastia, Due To Increased Aromatase Activity | 6 |
| Familial Hemiplegic Migraine Type 1 | 10 |
| Familial Hemiplegic Migraine Type 2 | 7 |
| Familial Hemiplegic Migraine Type 3 | 9 |
| Familial Hypercholesterolemia | 8 |
| Familial Hypertriglyceridemia | 2 |
| Familial Hypertrophic Cardiomyopathy 1 | 13 |
| Familial Hypertrophic Cardiomyopathy 10 | 7 |
| Familial Hypertrophic Cardiomyopathy 11 | 5 |
| Familial Hypertrophic Cardiomyopathy 12 | 8 |
| Familial Hypertrophic Cardiomyopathy 13 | 8 |
| Familial Hypertrophic Cardiomyopathy 14 | 10 |
| Familial Hypertrophic Cardiomyopathy 15 | 6 |
| Familial Hypertrophic Cardiomyopathy 16 | 4 |
| Familial Hypertrophic Cardiomyopathy 18 | 9 |
| Familial Hypertrophic Cardiomyopathy 2 | 7 |
| Familial Hypertrophic Cardiomyopathy 20 | 7 |
| Familial Hypertrophic Cardiomyopathy 3 | 6 |
| Familial Hypertrophic Cardiomyopathy 4 | 8 |
| Familial Hypertrophic Cardiomyopathy 6 | 9 |
| Familial Hypertrophic Cardiomyopathy 7 | 8 |
| Familial Hypertrophic Cardiomyopathy 8 | 6 |
| Familial Hypertrophic Cardiomyopathy 9 | 8 |
| Familial Hypoalphalipoproteinemia | 5 |
| Familial Hypobetalipoproteinemia | 5 |
| Familial Hypokalemia-Hypomagnesemia | 4 |
| Familial Infantile Myasthenia | 6 |
| Familial Juvenile Hyperuricemic Nephropathy | 4 |
| Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates | 5 |
| Familial Mediterranean Fever | 6 |
| Familial Mediterranean Fever, Autosomal Dominant | 6 |
| Familial Medullary Thyroid Carcinoma | 8 |
| Familial Non-Hodgkin Lymphoma | 7 |
| Familial Porphyria Cutanea Tarda | 4 |
| Familial Renal Glucosuria | 2 |
| Familial Renal Hypouricemia | 4 |
| Familial Type 5 Hyperlipoproteinemia | 3 |
| Familial Visceral Amyloidosis, Ostertag Type | 7 |
| Fanconi Anemia, Complementation Group A | 15 |
| Fanconi Anemia, Complementation Group B | 11 |
| Fanconi Anemia, Complementation Group C | 13 |
| Fanconi Anemia, Complementation Group D1 | 15 |
| Fanconi Anemia, Complementation Group D2 | 11 |
| Fanconi Anemia, Complementation Group E | 10 |
| Fanconi Anemia, Complementation Group F | 11 |
| Fanconi Anemia, Complementation Group G | 11 |
| Fanconi Anemia, Complementation Group I | 9 |
| Fanconi Anemia, Complementation Group J | 15 |
| Fanconi Anemia, Complementation Group L | 10 |
| Fanconi Anemia, Complementation Group M | 2 |
| Fanconi Anemia, Complementation Group N | 17 |
| Fanconi Anemia, Complementation Group O | 12 |
| Fanconi Anemia, Complementation Group P | 11 |
| Fanconi anemia, Complementation Group Q | 13 |
| Fanconi Anemia, Complementation Group R | 7 |
| Fanconi Anemia, Complementation Group S | 11 |
| Fanconi Anemia, Complementation Group T | 7 |
| Fanconi Anemia, Complementation Group U | 9 |
| Fanconi Anemia, Complementation Group V | 7 |
| Fanconi Anemia, Complementation Group W | 7 |
| Fanconi renotubular syndrome 1 | 6 |
| Fanconi Renotubular Syndrome 2 | 6 |
| Fanconi renotubular syndrome 3 | 3 |
| Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | 7 |
| Fanconi renotubular syndrome 5 | 4 |
| Fanconi-Bickel Syndrome | 14 |
| Farber's Lipogranulomatosis | 11 |
| Fasting Plasma Glucose Level Quantitative Trait Locus 5 | 1 |
| Fazio-Londe Disease | 9 |
| Febrile Seizures, Familial, 4 | 4 |
| Fechtner Syndrome | 3 |
| Feingold Syndrome 1 | 10 |
| Feingold Syndrome 2 | 6 |
| Fetal Akinesia Deformation Sequence | 8 |
| Fetal akinesia deformation sequence 2 | 1 |
| Fetal akinesia deformation sequence 3 | 1 |
| Fetal akinesia deformation sequence 4 | 1 |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 4 |
| Fetal Hemoglobin Quantitative Trait Locus 1 | 1 |
| Fetal Hemoglobin Quantitative Trait Locus 6 | 5 |
| Fg Syndrome | 17 |
| FG Syndrome 2 | 20 |
| FG Syndrome 4 | 10 |
| Fibrochondrogenesis | 10 |
| Fibrochondrogenesis 2 | 9 |
| Fibrodysplasia Ossificans Progressiva | 6 |
| Fibromatosis, gingival, 5 | 2 |
| Fibromuscular dysplasia, multifocal | 3 |
| Fibrosis Of Extraocular Muscles, Congenital, 1 | 1 |
| Fibrosis Of Extraocular Muscles, Congenital, 2 | 2 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement | 7 |
| Fibrosis of extraocular muscles, congenital, 5 | 2 |
| Fibular Hypoplasia And Complex Brachydactyly | 6 |
| Filippi syndrome | 6 |
| FILS syndrome | 6 |
| FINCA syndrome | 2 |
| Finnish Congenital Nephrotic Syndrome | 3 |
| Fish-Eye Disease | 5 |
| Fleck Corneal Dystrophy | 4 |
| Fleck Retina, Familial Benign | 6 |
| Fliedner-Zweier syndrome | 1 |
| Floating-Harbor Syndrome | 9 |
| Focal Cortical Dysplasia Of Taylor | 10 |
| Focal Dermal Hypoplasia | 7 |
| Focal facial dermal dysplasia 3, Setleis type | 1 |
| Focal Segmental Glomerulosclerosis 1 | 4 |
| Focal segmental glomerulosclerosis 10 | 3 |
| Focal Segmental Glomerulosclerosis 2 | 5 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To | 4 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To | 4 |
| Focal Segmental Glomerulosclerosis 5 | 2 |
| Focal Segmental Glomerulosclerosis 6 | 2 |
| Focal Segmental Glomerulosclerosis 8 | 4 |
| Focal Segmental Glomerulosclerosis 9 | 5 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 2 |
| Folate Malabsorption, Hereditary | 9 |
| Follicle-Stimulating Hormone Deficiency, Isolated | 7 |
| Fontaine progeroid syndrome | 4 |
| Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis | 6 |
| Foveal Hypoplasia And Presenile Cataract Syndrome | 11 |
| Fragile X Syndrome | 4 |
| Fragile X Tremor/Ataxia Syndrome | 4 |
| Frank Ter Haar Syndrome | 7 |
| Fraser Syndrome | 16 |
| Fraser Syndrome 2 | 15 |
| Fraser Syndrome 3 | 10 |
| Frasier Syndrome | 10 |
| Freeman-Sheldon Syndrome | 10 |
| Friedreich's Ataxia | 3 |
| Frontometaphyseal Dysplasia | 17 |
| Frontometaphyseal Dysplasia 2 | 2 |
| Frontonasal Dysplasia | 5 |
| Frontonasal Dysplasia 2 | 5 |
| Frontonasal Dysplasia 3 | 2 |
| Frontotemporal Dementia | 10 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis | 4 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 8 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 | 9 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 | 9 |
| Frontotemporal Dementia, Ubiquitin-Positive | 11 |
| Fructose-Biphosphatase Deficiency | 6 |
| Fructosuria, Essential | 1 |
| Fucosidosis | 8 |
| Fuhrmann Syndrome | 3 |
| Fukuyama Congenital Muscular Dystrophy | 15 |
| Fumarase Deficiency | 9 |
| Gabriele-de Vries syndrome | 2 |
| Galactosemia | 9 |
| Galactosemia IV | 1 |
| Galactosialidosis | 9 |
| Galactosylceramide Beta-Galactosidase Deficiency | 11 |
| Gallbladder Disease 4 | 3 |
| Galloway-Mowat Syndrome | 8 |
| Galloway-Mowat syndrome 10 | 1 |
| Galloway-Mowat Syndrome 2, X-linked | 7 |
| Galloway-Mowat Syndrome 3 | 9 |
| Galloway-Mowat Syndrome 4 | 7 |
| Galloway-Mowat Syndrome 5 | 6 |
| Galloway-Mowat syndrome 6 | 7 |
| Galloway-Mowat syndrome 7 | 3 |
| Galloway-Mowat syndrome 8 | 3 |
| Galloway-Mowat syndrome 9 | 1 |
| Gamma Aminobutyric Acid Transaminase Deficiency | 4 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To | 3 |
| Ganglioside Sialidase Deficiency | 6 |
| Gangliosidosis GM1 Type 3 | 8 |
| GAPO Syndrome | 2 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 2 |
| Gastric Lymphoma | 2 |
| Gastrointestinal defects and immunodeficiency syndrome | 4 |
| Gastrointestinal defects and immunodeficiency syndrome 2 | 1 |
| Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial | 5 |
| Gastrointestinal Stromal Tumors | 10 |
| Gastrointestinal ulceration, recurrent, with dysfunctional platelets | 1 |
| GATA-1-Related Thrombocytopenia With Dyserythropoiesis | 12 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency | 6 |
| Gaucher Disease, Perinatal Lethal | 8 |
| Gaucher Disease, Type 1 | 8 |
| Gaucher Disease, Type II | 8 |
| Gaucher Disease, Type III | 7 |
| Gaucher Disease, Type IIIc | 8 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis | 3 |
| Gaze palsy, familial horizontal, with progressive scoliosis, 2 | 3 |
| Geleophysic Dysplasia | 5 |
| Geleophysic Dysplasia 2 | 16 |
| Geleophysic dysplasia 3 | 5 |
| Generalized Dominant Dystrophic Epidermolysis Bullosa | 5 |
| Generalized Epilepsy And Paroxysmal Dyskinesia | 5 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 | 8 |
| Generalized epilepsy with febrile seizures plus, type 10 | 7 |
| Generalized epilepsy with febrile seizures plus, type 12 | 1 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 | 10 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 3 | 1 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 | 4 |
| Generalized Epilepsy with Febrile Seizures Plus, Type 9 | 6 |
| Genitopatellar Syndrome | 7 |
| Genitourinary and/or/brain malformation syndrome | 6 |
| Geroderma Osteodysplasticum | 6 |
| Ghosal Syndrome | 5 |
| Giant Axonal Neuropathy | 7 |
| Giant axonal neuropathy 2, autosomal dominant | 1 |
| Gilbert Syndrome | 4 |
| Gillessen-Kaesbach-Nishimura syndrome | 8 |
| Glanzmann thrombasthenia 2 | 2 |
| Glanzmann's Thrombasthenia | 12 |
| Glass Syndrome | 5 |
| Glaucoma 1, open angle, F | 1 |
| Glaucoma 1, Open Angle, G | 3 |
| Glaucoma 1, Open Angle, O | 2 |
| Glaucoma 3, Primary Congenital, D | 10 |
| Glaucoma 3, primary congenital, E | 2 |
| Glaucoma, Congenital | 5 |
| Glaucoma, Normal Tension, Susceptibility To | 9 |
| Glaucoma, primary closed-angle | 5 |
| Glioma Susceptibility 1 | 8 |
| Glioma Susceptibility 2 | 8 |
| Glioma Susceptibility 3 | 8 |
| Glioma Susceptibility 9 | 5 |
| Global developmental delay with speech and behavioral abnormalities | 1 |
| Global developmental delay, progressive ataxia, and elevated glutamine | 5 |
| Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria | 1 |
| Glomerulopathy With Fibronectin Deposits 2 | 3 |
| Glomerulosclerosis, Focal Segmental, 7 | 8 |
| GLOW syndrome, somatic mosaic | 3 |
| Glucocorticoid Deficiency 2 | 3 |
| Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | 3 |
| Glucocorticoid deficiency 5 | 6 |
| Glucocorticoid Deficiency With Achalasia | 2 |
| Glucocorticoid Resistance | 4 |
| Glucocorticoid-Remediable Aldosteronism | 3 |
| Glut1 Deficiency Syndrome 1 | 11 |
| Glut1 Deficiency Syndrome 2 | 11 |
| Glutamate Formiminotransferase Deficiency | 2 |
| Glutamine Deficiency, Congenital | 4 |
| Glutaric Aciduria III | 1 |
| Glutaric Aciduria, Type 1 | 10 |
| Glutaric Aciduria, Type 2 | 20 |
| Glutathione Peroxidase Deficiency | 1 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To | 6 |
| Gluthathione Synthetase Deficiency | 6 |
| Glycerol Kinase Deficiency | 5 |
| Glycine Encephalopathy | 8 |
| Glycine encephalopathy 2 | 1 |
| Glycine encephalopathy with normal serum glycine | 3 |
| Glycine N-Methyltransferase Deficiency | 4 |
| Glycogen Storage Disease 0, Liver | 5 |
| Glycogen Storage Disease 0, Muscle | 5 |
| Glycogen Storage Disease Of Heart, Lethal Congenital | 9 |
| Glycogen Storage Disease Type Ia | 6 |
| Glycogen Storage Disease Type Ib | 9 |
| Glycogen Storage Disease Type Ic | 8 |
| Glycogen Storage Disease Type II | 14 |
| Glycogen Storage Disease Type III | 10 |
| Glycogen Storage Disease Type IV | 10 |
| Glycogen Storage Disease Type IXa1 | 6 |
| Glycogen Storage Disease Type IXc | 4 |
| Glycogen Storage Disease Type IXd | 7 |
| Glycogen Storage Disease Type V | 6 |
| Glycogen Storage Disease Type VI | 4 |
| Glycogen Storage Disease Type VII | 7 |
| Glycogen Storage Disease Type X | 5 |
| Glycogen Storage Disease Type XI | 4 |
| Glycogen Storage Disease Type XII | 4 |
| Glycogen Storage Disease Type XIII | 4 |
| Glycogen Storage Disease Type XV | 5 |
| Glycogen Storage DiseaseType IXb | 7 |
| Glycosylphosphatidylinositol biosynthesis defect 11 | 4 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 8 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 3 |
| Glycosylphosphatidylinositol biosynthesis defect 17 | 4 |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 5 |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 3 |
| Glycosylphosphatidylinositol Deficiency | 4 |
| Gnathodiaphyseal Dysplasia | 4 |
| GNE Myopathy | 9 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors | 8 |
| Goldberg-Shprintzen Megacolon Syndrome | 5 |
| Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | 2 |
| Gonadotropin-Independent Familial Sexual Precocity | 6 |
| Gorlin Syndrome | 13 |
| Gout, HPRT-Related | 6 |
| Gracile Bone Dysplasia | 6 |
| GRACILE Syndrome | 7 |
| Graft-Versus-Host Disease, Susceptibility To | 2 |
| Grange syndrome | 4 |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative | 6 |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type II | 5 |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III | 5 |
| Granulomatous Disease, Chronic, X-Linked | 7 |
| Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial | 5 |
| Gray Platelet Syndrome | 6 |
| Grebe Syndrome | 6 |
| Greenberg Dysplasia | 8 |
| Greig Cephalopolysyndactyly Syndrome | 14 |
| Griscelli Syndrome Type 1 | 8 |
| Griscelli Syndrome Type 2 | 12 |
| Griscelli Syndrome Type 3 | 6 |
| Groenouw Corneal Dystrophy Type I | 2 |
| Growth Hormone Deficiency, Isolated Partial | 1 |
| Growth hormone deficiency, isolated, type V | 1 |
| Growth hormone insensitivity with immune dysregulation 2, autosomal dominant | 1 |
| Growth Hormone Insensitivity With Immunodeficiency | 2 |
| Growth restriction, severe, with distinctive facies | 2 |
| Growth Retardation, Developmental Delay, Coarse Facies, And Early Death | 3 |
| Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | 1 |
| Gtp Cyclohydrolase I Deficiency | 5 |
| Gyrate Atrophy of Choroid and Retina with or without Ornithinemia | 7 |
| Haim-Munk Syndrome | 5 |
| Hajdu-Cheney Syndrome | 12 |
| Hamamy syndrome | 1 |
| Hand Foot Uterus Syndrome | 8 |
| Hao-Fountain syndrome | 1 |
| Harderoporphyria | 1 |
| Hardikar syndrome | 2 |
| Harlequin Ichthyosis | 6 |
| Hartnup Disease | 3 |
| Hartsfield syndrome | 16 |
| Hashimoto Thyroiditis | 3 |
| Hawkinsinuria | 4 |
| Hay-Wells Syndrome | 12 |
| Heart and brain malformation syndrome | 3 |
| Heart-Hand Syndrome, Slovenian Type | 8 |
| Heimler syndrome 1 | 13 |
| Heimler syndrome 2 | 11 |
| Heinz Body Anemias | 3 |
| Helicobacter Pylori Infection, Susceptibility To | 2 |
| HELIX syndrome | 1 |
| Helsmoortel-van der Aa Syndrome | 6 |
| Hemangioma, Capillary Infantile | 5 |
| Heme Oxygenase 1 Deficiency | 3 |
| Hemifacial myohyperplasia, somatic | 1 |
| Hemochromatosis Type 1 | 10 |
| Hemochromatosis Type 2 | 3 |
| Hemochromatosis Type 2B | 3 |
| Hemochromatosis Type 3 | 3 |
| Hemochromatosis Type 4 | 4 |
| Hemochromatosis Type 5 | 2 |
| Hemoglobin H Disease | 4 |
| Hemolytic anemia due to elevated adenosine deaminase | 1 |
| Hemolytic anemia due to G6PD deficiency | 6 |
| Hemolytic anemia due to glutathione reductase deficiency | 2 |
| Hemolytic Anemia Due To Hexokinase Deficiency | 5 |
| Hemolytic Anemia due to Triosephosphate Isomerase Deficiency | 5 |
| Hemolytic anemia, congenital, X-linked | 1 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency | 4 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 2 | 2 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 | 9 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 | 9 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 | 8 |
| Hemophagocytic lymphohistiocytosis, Familial, 5 | 9 |
| Hemophilia A, Congenital | 2 |
| Hemophilia A, Congenital | 6 |
| Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts | 9 |
| Hengel-Maroofian-Schols syndrome | 1 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 | 7 |
| Hennekam lymphangiectasia-lymphedema syndrome 3 | 4 |
| Hennekam Syndrome | 11 |
| Heparin Cofactor II Deficiency | 1 |
| Hepatic Adenomas, Familial | 4 |
| Hepatic Lipase Deficiency | 1 |
| Hepatic Venoocclusive Disease With Immunodeficiency | 2 |
| Hepatitis B Virus, Susceptibility To | 3 |
| Hepatitis C Virus, Susceptibility To | 5 |
| Hereditary Angioneurotic Edema | 4 |
| Hereditary Cerebral Amyloid Angiopathy, Icelandic Type | 2 |
| Hereditary Coproporphyria | 6 |
| Hereditary Diffuse Gastric Cancer | 19 |
| Hereditary Factor IX Deficiency Disease | 5 |
| Hereditary Factor XI Deficiency Disease | 5 |
| Hereditary Fructose Intolerance | 6 |
| Hereditary Gingival Fibromatosis | 5 |
| Hereditary Hemorrhagic Telangiectasia Type 2 | 6 |
| Hereditary Insensitivity To Pain With Anhidrosis | 5 |
| Hereditary Leiomyomatosis And Renal Cell Cancer | 10 |
| Hereditary Liability To Pressure Palsies | 2 |
| Hereditary Lymphedema Type 1C | 4 |
| Hereditary Lymphedema Type I | 6 |
| Hereditary Mixed Polyposis Syndrome 2 | 8 |
| Hereditary Myopathy With Early Respiratory Failure | 5 |
| Hereditary Neuralgic Amyotrophy | 2 |
| Hereditary Neutrophilia | 2 |
| Hereditary Nonpolyposis Colorectal Cancer Type 4 | 15 |
| Hereditary Nonpolyposis Colorectal Cancer Type 5 | 16 |
| Hereditary Nonpolyposis Colorectal Cancer Type 6 | 8 |
| Hereditary Nonpolyposis Colorectal Cancer Type 7 | 4 |
| Hereditary Nonpolyposis Colorectal Cancer Type 8 | 17 |
| Hereditary Pyropoikilocytosis | 3 |
| Hereditary Sideroblastic Anemia | 6 |
| Hereditary Spherocytosis | 4 |
| Hermansky-Pudlak Syndrome 1 | 13 |
| Hermansky-Pudlak Syndrome 10 | 9 |
| Hermansky-Pudlak syndrome 11 | 1 |
| Hermansky-Pudlak Syndrome 2 | 14 |
| Hermansky-Pudlak Syndrome 3 | 13 |
| Hermansky-Pudlak Syndrome 4 | 13 |
| Hermansky-Pudlak Syndrome 5 | 12 |
| Hermansky-Pudlak Syndrome 6 | 12 |
| Hermansky-Pudlak Syndrome 7 | 13 |
| Hermansky-Pudlak Syndrome 8 | 13 |
| Hermansky-Pudlak Syndrome 9 | 12 |
| Herpes Simplex Encephalitis 1 | 2 |
| Herpes Simplex Encephalitis 2 | 3 |
| Heterotaxy, visceral, 10, autosomal, with male infertility | 1 |
| Heterotaxy, Visceral, 2, Autosomal | 1 |
| Heterotaxy, Visceral, 4, Autosomal | 6 |
| Heterotaxy, Visceral, 5 | 9 |
| Heterotaxy, visceral, 6, autosomal recessive | 4 |
| Heterotaxy, Visceral, 7, Autosomal | 3 |
| Heterotaxy, visceral, 8, autosomal | 5 |
| Heterotaxy, visceral, 9, autosomal, with male infertility | 1 |
| Heterotaxy, Visceral, X-Linked | 8 |
| Heterotopia, Periventricular, Autosomal Recessive | 9 |
| Heterotopia, Periventricular, Ehlers-Danlos Variant | 1 |
| Heyn-Sproul-Jackson syndrome | 6 |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 2 |
| Hidradenitis Suppurativa, Familial | 2 |
| Hidrotic Ectodermal Dysplasia Syndrome | 4 |
| High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12 | 1 |
| High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 | 1 |
| Hijazi-Reis syndrome | 1 |
| Hip dysplasia, Beukes type | 2 |
| Hirschsprung Disease 1 | 9 |
| Hirschsprung Disease 2 | 9 |
| Hirschsprung Disease 3 | 4 |
| Hirschsprung Disease 4 | 10 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction | 4 |
| Histidinemia | 1 |
| Histiocytosis-lymphadenopathy plus syndrome | 7 |
| Hodgkin Lymphoma | 1 |
| Holoprosencephaly 11 | 6 |
| Holoprosencephaly 12, with or without pancreatic agenesis | 4 |
| Holoprosencephaly 13, X-linked | 5 |
| Holoprosencephaly 2 | 6 |
| Holoprosencephaly 3 | 12 |
| Holoprosencephaly 4 | 7 |
| Holoprosencephaly 5 | 7 |
| Holoprosencephaly 7 | 11 |
| Holoprosencephaly 9 | 13 |
| Holoprosencephaly Sequence | 2 |
| Holt-Oram Syndrome | 8 |
| Homocystinuria Due To Cbs Deficiency | 15 |
| Homocystinuria due to MTHFR Deficiency | 11 |
| Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblE Complementation Type | 7 |
| Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type | 7 |
| Humerofemoral hypoplasia with radiotibial ray deficiency | 1 |
| Huntington Disease | 2 |
| Huriez syndrome | 1 |
| Hurler Syndrome | 7 |
| Hutchinson-Gilford Syndrome | 9 |
| Hyaline Fibromatosis Syndrome | 3 |
| Hydrocephalus, congenital communicating, 1 | 2 |
| Hydrocephalus, Nonsyndromic, 1 | 6 |
| Hydrocephalus, Nonsyndromic, 3 | 4 |
| Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 | 7 |
| Hydrocephalus, normal pressure, 1 | 2 |
| Hydrolethalus Syndrome 1 | 1 |
| Hydrolethalus Syndrome 2 | 15 |
| Hydrops, lactic acidosis, and sideroblastic anemia | 4 |
| Hydroxykynureninuria | 4 |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 3 |
| Hyper-IgE recurrent infection syndrome 4, autosomal recessive | 3 |
| Hyper-IgE recurrent infection syndrome 5, autosomal recessive | 2 |
| Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections | 1 |
| Hyperaldosteronism, familial, type II | 5 |
| Hyperaldosteronism, Familial, Type III | 4 |
| Hyperaldosteronism, Familial, Type IV | 3 |
| Hyperalphalipoproteinemia | 2 |
| Hyperalphalipoproteinemia 2 | 1 |
| Hyperammonemia due to carbonic anhydrase VA deficiency | 5 |
| Hyperammonemia, Type III | 5 |
| Hyperbiliverdinemia | 1 |
| Hypercalcemia, infantile, 2 | 4 |
| Hypercalciuria, Absorptive, 2 | 3 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant | 4 |
| Hypercholanemia, Familial | 4 |
| Hypercholanemia, familial 2 | 1 |
| Hypercholesterolemia, Autosomal Dominant, 3 | 4 |
| Hypercholesterolemia, Autosomal Dominant, Type B | 6 |
| Hypercholesterolemia, Autosomal Recessive | 4 |
| Hyperekplexia 2 | 2 |
| Hyperekplexia 3 | 2 |
| Hyperekplexia 4 | 3 |
| Hyperekplexia Hereditary | 4 |
| Hyperferritinemia Cataract Syndrome | 7 |
| Hyperglycinuria | 3 |
| Hyperimmunoglobulin D With Periodic Fever | 12 |
| Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive | 8 |
| Hyperimmunoglobulin E Syndrome | 10 |
| Hyperinsulinemic Hypoglycemia Familial 5 | 6 |
| Hyperinsulinemic Hypoglycemia, Familial 3 | 5 |
| Hyperinsulinemic Hypoglycemia, Familial 6 | 10 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 | 9 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 | 8 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 | 9 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 | 5 |
| Hyperkalemic Periodic Paralysis; HYPP | 6 |
| Hyperlipidemia, Familial Combined | 4 |
| Hyperlipoproteinemia, Type 1D | 3 |
| Hyperlipoproteinemia, Type I | 5 |
| Hyperlipoproteinemia, Type III | 5 |
| Hyperlysinemia | 3 |
| Hypermanganesemia with dystonia 1 | 3 |
| Hypermanganesemia with dystonia 2 | 3 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency | 6 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency | 9 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | 6 |
| Hyperostosis cranalis interna | 2 |
| Hyperparathyroidism 1 | 4 |
| Hyperparathyroidism 2 | 4 |
| Hyperparathyroidism 4 | 1 |
| Hyperparathyroidism, Neonatal Severe Primary | 6 |
| Hyperparathyroidism, transient neonatal | 3 |
| Hyperphenylalaninemia, Mild, Non-BH4-Deficient | 7 |
| Hyperphosphatasemia Tarda | 3 |
| Hyperphosphatasemia With Bone Disease | 3 |
| Hyperphosphatasia With Mental Retardation | 8 |
| Hyperphosphatasia with mental retardation syndrome 2 | 7 |
| Hyperphosphatasia with mental retardation syndrome 3 | 3 |
| Hyperphosphatasia with mental retardation syndrome 4 | 5 |
| Hyperphosphatasia with Mental Retardation Syndrome 6 | 4 |
| Hyperpigmentation with or without Hypopigmentation | 3 |
| Hyperproinsulinemia | 4 |
| Hyperprolactinemia | 2 |
| Hypertelorism, Teebi type | 4 |
| Hypertension and Brachydactyly Syndrome | 5 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy | 5 |
| Hyperthyroidism, Familial Gestational | 3 |
| Hyperthyroidism, Nonautoimmune | 3 |
| Hypertrichotic Osteochondrodysplasia | 6 |
| Hypertriglyceridemia, transient infantile | 2 |
| Hypertrophic osteoarthropathy, primary, autosomal dominant | 2 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 | 3 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis | 5 |
| Hyperuricemic Nephropathy, Familial Juvenile, 2 | 4 |
| Hyperuricemic Nephropathy, Familial Juvenile, 4 | 4 |
| Hypervalinemia or hyperleucine-isoleucinemia | 1 |
| Hypoalphalipoproteinemia, primary, 2, intermediate | 1 |
| Hypobetalipoproteinemia | 5 |
| Hypobetalipoproteinemia, Familial, 2 | 2 |
| Hypocalcemia, autosomal dominant | 9 |
| Hypocalcemia, autosomal dominant 2 | 4 |
| Hypocalciuric Hypercalcemia, Familial, Type III | 6 |
| Hypocalciuric hypercalcemia, type II | 4 |
| Hypochondroplasia | 13 |
| Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica | 8 |
| Hypogonadotropic Hypogonadism 10 with or without Anosmia | 6 |
| Hypogonadotropic Hypogonadism 11 with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 12 with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 13 with or without Anosmia | 8 |
| Hypogonadotropic Hypogonadism 14 with or without Anosmia | 8 |
| Hypogonadotropic Hypogonadism 15 with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 16 with or without Anosmia | 8 |
| Hypogonadotropic Hypogonadism 17 with or without Anosmia | 5 |
| Hypogonadotropic Hypogonadism 18 with or without Anosmia | 8 |
| Hypogonadotropic Hypogonadism 19 with or without Anosmia | 4 |
| Hypogonadotropic Hypogonadism 20 with or without Anosmia | 5 |
| Hypogonadotropic Hypogonadism 21 with Anosmia | 4 |
| Hypogonadotropic Hypogonadism 22, with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 7 with or without Anosmia | 10 |
| Hypogonadotropic Hypogonadism 8 with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 9 with or without Anosmia | 7 |
| Hypohidrotic Ectodermal Dysplasia With Immune Deficiency | 5 |
| Hypohidrotic X-Linked Ectodermal Dysplasia | 3 |
| Hypokalemic Periodic Paralysis | 3 |
| Hypokalemic Periodic Paralysis, Type 2 | 5 |
| Hypomagnesemia 1, Intestinal | 4 |
| Hypomagnesemia 2, Renal | 7 |
| Hypomagnesemia 4, Renal | 4 |
| Hypomagnesemia 5, Renal, With Ocular Involvement | 8 |
| Hypomagnesemia 6, Renal | 4 |
| Hypomagnesemia, seizures, and mental retardation | 3 |
| Hypomagnesemia, seizures, and mental retardation 2 | 5 |
| Hypomyelinating neuropathy, congenital, 2 | 1 |
| Hypomyelinating neuropathy, congenital, 3 | 5 |
| Hypomyelination And Congenital Cataract | 6 |
| Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity | 6 |
| Hypoparathyroidism Retardation Dysmorphism Syndrome | 7 |
| Hypoparathyroidism, Familial Isolated | 5 |
| Hypoparathyroidism, X-linked | 1 |
| Hypophosphatemic Rickets, Autosomal Dominant | 7 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 | 7 |
| Hypophosphatemic Rickets, X-Linked Dominant | 7 |
| Hypophosphatemic Rickets, X-Linked Recessive | 6 |
| Hypophosphatemic Vitamin D Refractory Rickets | 5 |
| Hypopigmentation, organomegaly, and delayed myelination and development | 3 |
| Hypoplastic Left Heart Syndrome | 10 |
| Hypoplastic Left Heart Syndrome 2 | 10 |
| Hypoplastic or Aplastic Tibia with Polydactyly | 5 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration | 5 |
| Hypoproteinemia, Hypercatabolic | 3 |
| Hypospadias 1, X-Linked | 3 |
| Hypospadias 2, X-Linked | 5 |
| Hypospadias 3, Autosomal | 2 |
| Hypotaurinemic retinal degeneration and cardiomyopathy | 1 |
| Hypothalamic Hamartomas | 6 |
| Hypothryoidism, Congenital, Nongoitrous 4 | 3 |
| Hypothyroidism, Central, and Testicular Enlargement | 3 |
| Hypothyroidism, Congenital, Due To Thyroid Dysgenesis | 4 |
| Hypothyroidism, congenital, nongoitrous, 1 | 2 |
| Hypothyroidism, Congenital, Nongoitrous, 5 | 9 |
| Hypothyroidism, Congenital, Nongoitrous, 6 | 3 |
| Hypotonia, ataxia, and delayed development syndrome | 5 |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | 1 |
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 2 |
| Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies | 7 |
| Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 | 8 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 5 |
| Hypotonia-Cystinuria Syndrome | 1 |
| Hypotrichosis 12 | 1 |
| Hypotrichosis 14 | 2 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome | 3 |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 |
| I Cell Disease | 7 |
| Ichthyosiform Erythroderma, Nonbullous Congenital | 4 |
| Ichthyosis Bullosa Of Siemens | 4 |
| Ichthyosis Follicularis Atrichia Photophobia Syndrome | 8 |
| Ichthyosis Histrix, Curth-Macklin Type | 3 |
| Ichthyosis Lamellar 3 | 4 |
| Ichthyosis Prematurity Syndrome | 3 |
| Ichthyosis Vulgaris | 1 |
| Ichthyosis, congenital, autosomal recessive 10 | 5 |
| Ichthyosis, Congenital, Autosomal Recessive 11 | 2 |
| Ichthyosis, congenital, autosomal recessive 13 | 1 |
| Ichthyosis, congenital, autosomal recessive 14 | 1 |
| Ichthyosis, congenital, autosomal recessive 3 | 4 |
| Ichthyosis, congenital, autosomal recessive 4A | 6 |
| Ichthyosis, Congenital, Autosomal Recessive 8 | 3 |
| Ichthyosis, Congenital, Autosomal Recessive 9 | 3 |
| Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related | 3 |
| Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis | 5 |
| Ichthyosis, Hystrix-Like, With Deafness | 3 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis | 2 |
| Ichthyosis, spastic quadriplegia, and mental retardation | 5 |
| Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies | 2 |
| Idiopathic Fibrosing Alveolitis, Chronic Form | 3 |
| Idiopathic Hypercalcemia Of Infancy | 2 |
| Idiopathic Hypereosinophilic Syndrome | 3 |
| Ige Responsiveness, Atopic | 1 |
| IL12RB1 Deficiency | 4 |
| Imagawa-Matsumoto syndrome | 1 |
| IMAGE Syndrome | 10 |
| IMAGE-I syndrome | 5 |
| Imerslund-Grasbeck syndrome 2 | 1 |
| Iminoglycinuria | 3 |
| Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1 | 3 |
| Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 | 8 |
| Immunodeficiency 102 | 2 |
| Immunodeficiency 11A | 4 |
| Immunodeficiency 11B with atopic dermatitis | 4 |
| Immunodeficiency 12 | 3 |
| Immunodeficiency 13 | 6 |
| Immunodeficiency 14 (Activated PI3K-Delta Syndrome; APDS) | 10 |
| Immunodeficiency 14B, autosomal recessive | 2 |
| Immunodeficiency 15 | 2 |
| Immunodeficiency 15A | 1 |
| Immunodeficiency 16 | 2 |
| Immunodeficiency 17, CD3 gamma deficient | 3 |
| Immunodeficiency 18 | 3 |
| Immunodeficiency 19 | 3 |
| Immunodeficiency 22 | 2 |
| Immunodeficiency 23 | 8 |
| Immunodeficiency 24 | 3 |
| Immunodeficiency 26, with or without neurologic abnormalities | 3 |
| Immunodeficiency 27B, mycobacteriosis, AD | 3 |
| Immunodeficiency 28, mycobacteriosis | 5 |
| Immunodeficiency 29, mycobacteriosis | 3 |
| Immunodeficiency 31A, mycobacteriosis, autosomal dominant | 5 |
| Immunodeficiency 32A, mycobacteriosis, autosomal dominant | 3 |
| Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive | 3 |
| Immunodeficiency 36 (Activated PI3K-Delta Syndrome; APDS) | 9 |
| Immunodeficiency 37 | 3 |
| Immunodeficiency 38 | 3 |
| Immunodeficiency 39 | 2 |
| Immunodeficiency 40 | 2 |
| Immunodeficiency 42 | 3 |
| Immunodeficiency 44 | 3 |
| Immunodeficiency 45 | 2 |
| Immunodeficiency 46 | 3 |
| Immunodeficiency 48 | 3 |
| Immunodeficiency 49 | 4 |
| Immunodeficiency 50 | 2 |
| Immunodeficiency 52 | 3 |
| Immunodeficiency 53 | 2 |
| Immunodeficiency 54 | 2 |
| Immunodeficiency 55 | 5 |
| Immunodeficiency 56 | 2 |
| Immunodeficiency 57 | 4 |
| Immunodeficiency 58 | 3 |
| Immunodeficiency 59 and hypoglycemia | 2 |
| Immunodeficiency 60 | 1 |
| Immunodeficiency 61 | 2 |
| Immunodeficiency 62 | 2 |
| Immunodeficiency 63 with lymphoproliferation and autoimmunity | 2 |
| Immunodeficiency 64 | 2 |
| Immunodeficiency 65, susceptibility to viral infections | 2 |
| Immunodeficiency 66 | 2 |
| Immunodeficiency 69, mycobacteriosis | 2 |
| Immunodeficiency 7, TCR-alpha/beta deficient | 2 |
| Immunodeficiency 70 | 2 |
| Immunodeficiency 72 with autoinflammation | 3 |
| Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia | 1 |
| Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia | 1 |
| Immunodeficiency 74, COVID19-related, X-linked | 2 |
| Immunodeficiency 75 | 3 |
| Immunodeficiency 76 | 1 |
| Immunodeficiency 78 with autoimmunity and developmental delay | 1 |
| Immunodeficiency 8 | 3 |
| Immunodeficiency 80 with or without cardiomyopathy | 2 |
| Immunodeficiency 82 with systemic inflammation | 2 |
| Immunodeficiency 84 | 2 |
| Immunodeficiency 86, mycobacteriosis | 1 |
| Immunodeficiency 87 and autoimmunity | 1 |
| Immunodeficiency 88 | 2 |
| Immunodeficiency 92 | 2 |
| Immunodeficiency 93 and hypertrophic cardiomyopathy | 2 |
| Immunodeficiency 94 with autoinflammation and dysmorphic facies | 1 |
| Immunodeficiency 95 | 1 |
| Immunodeficiency 97 with autoinflammation | 2 |
| Immunodeficiency 98 with autoinflammation, X-linked | 2 |
| Immunodeficiency and Hepatopathy with Cutis Laxa | 10 |
| Immunodeficiency Due To Defect In Cd3-Zeta | 3 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein | 4 |
| Immunodeficiency Due To Ficolin 3 Deficiency | 2 |
| Immunodeficiency With Hyper Igm Type 1 | 6 |
| Immunodeficiency With Hyper IgM Type 2 | 7 |
| Immunodeficiency With Hyper IgM Type 3 | 4 |
| Immunodeficiency With Hyper IgM Type 5 | 5 |
| Immunodeficiency Without Anhidrotic Ectodermal Dysplasia | 2 |
| Immunodeficiency, Common Variable, 1 | 5 |
| Immunodeficiency, common variable, 10 | 8 |
| Immunodeficiency, common variable, 11 | 5 |
| Immunodeficiency, common variable, 12 | 5 |
| Immunodeficiency, common variable, 13 | 5 |
| Immunodeficiency, common variable, 14 | 4 |
| Immunodeficiency, Common Variable, 3 | 5 |
| Immunodeficiency, Common Variable, 4 | 5 |
| Immunodeficiency, Common Variable, 5 | 5 |
| Immunodeficiency, Common Variable, 6 | 5 |
| Immunodeficiency, common variable, 7 | 5 |
| Immunodeficiency, Common Variable, 8, with Autoimmunity | 7 |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 3 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | 8 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 | 4 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 2 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 2 |
| Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked | 6 |
| Immunoglobulin A Deficiency 2 | 4 |
| Immunoglobulin Kappa Light Chain Deficiency | 2 |
| Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities | 6 |
| Inclusion Body Myopathy 3 | 3 |
| Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia | 12 |
| Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 | 2 |
| Inclusion Body Myopathy with Early-Onset Paget Disease without Frontotemporal Dementia 3 | 2 |
| Incontinentia Pigmenti | 7 |
| Indifference To Pain, Congenital, Autosomal Recessive | 6 |
| Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | 4 |
| Infantile cerebellar-retinal degeneration | 11 |
| Infantile Gm1 Gangliosidosis | 9 |
| Infantile Hypophosphatasia | 11 |
| Infantile Liver Failure Syndrome 1 | 4 |
| Infantile Liver Failure Syndrome 2 | 13 |
| Infantile liver failure syndrome 3 | 1 |
| Infantile Nephronophthisis | 13 |
| Infantile Neuroaxonal Dystrophy | 7 |
| Infantile Parkinsonism-Dystonia | 7 |
| Infantile-Onset Ascending Hereditary Spastic Paralysis | 6 |
| Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | 4 |
| Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2 | 1 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations | 4 |
| Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA | 3 |
| Inflammatory bowel disease (Crohn disease) 30 | 2 |
| Inflammatory Bowel Disease 1 | 4 |
| Inflammatory Bowel Disease 13 | 1 |
| Inflammatory Bowel Disease 17 | 2 |
| Inflammatory Bowel Disease 25, Autosomal Recessive | 3 |
| Inflammatory Bowel Disease 28, Autosomal Recessive | 3 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 5 |
| Inflammatory Skin And Bowel Disease, Neonatal | 3 |
| Inflammatory skin and bowel disease, neonatal, 2 | 2 |
| Inosine Triphosphatase Deficiency | 4 |
| Insulin-Like Growth Factor 1 Resistance To | 4 |
| Insulin-Like Growth Factor I Deficiency | 1 |
| Insulin-Resistant Diabetes Mellitus And Acanthosis Nigricans | 5 |
| Insulinomatosis and diabetes mellitus | 3 |
| Intellectual developmental disorder 60 with seizures | 2 |
| Intellectual developmental disorder 61 | 4 |
| Intellectual developmental disorder 62 | 2 |
| Intellectual developmental disorder and retinitis pigmentosa | 1 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 |
| Intellectual developmental disorder with autism and speech delay | 3 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 2 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 4 |
| Intellectual developmental disorder with cardiac arrhythmia | 1 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 3 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 3 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 |
| Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities | 3 |
| Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 4 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 2 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 1 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2 |
| Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | 3 |
| Intellectual developmental disorder with neuropsychiatric features | 2 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 3 |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures | 2 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 2 |
| Intellectual developmental disorder with seizures and language delay | 2 |
| Intellectual developmental disorder with severe speech and ambulation defects | 4 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 2 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 4 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 |
| Intellectual developmental disorder, autosomal dominant 66 | 2 |
| Intellectual developmental disorder, autosomal dominant 68 | 1 |
| Intellectual developmental disorder, autosomal dominant 69 | 1 |
| Intellectual developmental disorder, autosomal dominant 70 | 2 |
| Intellectual developmental disorder, autosomal recessive 70 | 1 |
| Intellectual developmental disorder, autosomal recessive 71 | 1 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 1 |
| Intellectual developmental disorder, autosomal recessive 77 | 1 |
| Intellectual developmental disorder, autosomal recessive 81 | 1 |
| Intellectual developmental disorder, X-linked 108 | 2 |
| Intellectual developmental disorder, X-linked 110 | 1 |
| Intellectual developmental disorder, X-linked 50 | 4 |
| Intellectual developmental disorder, X-linked syndromic, Pilorge type | 1 |
| Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies | 1 |
| Intellectual developmental disorder, X-linked, syndromic, Armfield type | 2 |
| Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type | 2 |
| Intellectual disability and myopathy syndrome | 1 |
| Interleukin 2 Receptor, Alpha, Deficiency Of | 6 |
| Interleukin 36 Receptor Antagonist Deficiency | 5 |
| Interstitial Lung and Liver Disease | 4 |
| Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital | 8 |
| Intervertebral Disc Disorder | 9 |
| Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked | 14 |
| Intrinsic Factor Deficiency | 2 |
| Invasive Pneumococcal Disease, Recurrent Isolated, 1 | 1 |
| Invasive Pneumococcal Disease, Recurrent Isolated, 2 | 2 |
| IRAK4 Deficiency | 5 |
| Iridogoniodysgenesis Type1 | 12 |
| Iridogoniodysgenesis, Dominant Type | 13 |
| Ischemic Stroke | 4 |
| Isolated Lutropin Deficiency | 4 |
| Isolated X-Linked Adrenal Hypoplasia Congenita | 8 |
| Isovaleryl-CoA Dehydrogenase Deficiency | 7 |
| Ivic Syndrome | 9 |
| Jaberi-Elahi syndrome | 3 |
| Jackson-Weiss Syndrome | 19 |
| Jalili Syndrome | 6 |
| Jansen de Vries syndrome | 2 |
| Jawad syndrome | 3 |
| Jeffries-Lakhani neurodevelopmental syndrome | 1 |
| Jensen Syndrome | 2 |
| Jervell And Lange-Nielsen Syndrome 2 | 6 |
| Jervell And Lange-Nielson Syndrome | 6 |
| Johanson-Blizzard Syndrome | 7 |
| Joint laxity, short stature, and myopia | 3 |
| Joubert Syndrome | 14 |
| Joubert Syndrome 1 | 14 |
| Joubert Syndrome 10 | 21 |
| Joubert Syndrome 13 | 12 |
| Joubert syndrome 14 | 14 |
| Joubert syndrome 15 | 14 |
| Joubert syndrome 16 | 13 |
| Joubert syndrome 18 | 14 |
| Joubert syndrome 19 | 10 |
| Joubert Syndrome 2 | 14 |
| Joubert syndrome 20 | 11 |
| Joubert Syndrome 21 | 13 |
| Joubert Syndrome 22 | 10 |
| Joubert Syndrome 23 | 10 |
| Joubert Syndrome 24 | 12 |
| Joubert Syndrome 25 | 11 |
| Joubert Syndrome 26 | 6 |
| Joubert Syndrome 27 | 13 |
| Joubert Syndrome 28 | 12 |
| Joubert Syndrome 3 | 14 |
| Joubert Syndrome 30 | 11 |
| Joubert Syndrome 31 | 11 |
| Joubert Syndrome 32 | 7 |
| Joubert Syndrome 33 | 5 |
| Joubert syndrome 35 | 2 |
| Joubert syndrome 38 | 1 |
| Joubert Syndrome 4 | 15 |
| Joubert syndrome 40 | 3 |
| Joubert Syndrome 5 | 17 |
| Joubert Syndrome 6 | 14 |
| Joubert Syndrome 7 | 17 |
| Joubert Syndrome 8 | 15 |
| Joubert Syndrome 9 | 18 |
| Juberg-Hayward syndrome | 2 |
| Junctional Epidermolysis Bullosa | 6 |
| Juvenile Amyotrophic Lateral Sclerosis | 5 |
| Juvenile arthritis | 1 |
| Juvenile GM1 Gangliosidosis | 8 |
| Juvenile Macular Degeneration And Hypotrichosis | 4 |
| Juvenile Myelomonocytic Leukemia | 17 |
| Juvenile Nephropathic Cystinosis | 5 |
| Juvenile Polyposis Syndrome | 16 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome | 15 |
| Juvenile Primary Lateral Sclerosis | 4 |
| Juvenile-Onset Dystonia | 9 |
| Kabuki Syndrome 1 | 23 |
| Kabuki Syndrome 2 | 20 |
| Kahrizi syndrome | 5 |
| Kallmann Syndrome 1 | 13 |
| Kallmann Syndrome 2 | 19 |
| Kallmann Syndrome 3 | 10 |
| Kallmann Syndrome 4 | 9 |
| Kallmann Syndrome 5 | 24 |
| Kallmann Syndrome 6 | 15 |
| Kanzaki Disease | 5 |
| Karyomegalic Tubulointerstitial Nephritis | 3 |
| Kaufman oculocerebrofacial syndrome | 2 |
| Kaya-Barakat-Masson syndrome | 2 |
| KBG Syndrome | 12 |
| Keipert syndrome | 2 |
| Kenny-Caffey Syndrome Type 1 | 7 |
| Kenny-Caffey Syndrome Type 2 | 8 |
| Keppen-Lubinsky syndrome | 4 |
| Keratitis, Hereditary | 7 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant | 4 |
| Keratitis-ichthyosis-deafness syndrome, autosomal recessive | 3 |
| Keratoconus 1 | 6 |
| Keratoderma Palmoplantar Deafness | 4 |
| Keratoderma, palmoplantar, punctate type IA | 1 |
| Keratoendothelitis fugax hereditaria | 7 |
| Keratolytic winter erythema | 1 |
| Keratosis Follicularis | 1 |
| Keratosis Follicularis Spinulosa Decalvans | 3 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma | 5 |
| Keratosis Palmoplantaris Striata 1 | 2 |
| Keratosis Palmoplantaris Striata 3 | 2 |
| Keratosis Palmoplantaris Striata II | 4 |
| Keratosis, Seborrheic | 6 |
| Keutel Syndrome | 3 |
| Kindler's Syndrome | 6 |
| KINSSHIP syndrome | 2 |
| Kleefstra syndrome 2 | 3 |
| Klein-Waardenberg's Syndrome | 8 |
| Klippel-Feil Syndrome 1, Autosomal Dominant | 6 |
| Klippel-Feil syndrome 2, autosomal recessive | 4 |
| Klippel-Feil Syndrome 3, Autosomal Dominant | 5 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism | 5 |
| Kniest Dysplasia | 15 |
| Knobloch Syndrome 1 | 12 |
| Knuckle Pads, Deafness And Leukonychia Syndrome | 4 |
| Kohlschutter-Tonz syndrome | 6 |
| Kohlschutter-Tonz syndrome-like | 2 |
| Koolen-De Vries Syndrome | 4 |
| Kosaki overgrowth syndrome | 7 |
| Krabbe Disease Atypical Due To Saposin A Deficiency | 7 |
| Kury-Isidor syndrome | 1 |
| L-2-Hydroxyglutaric Aciduria | 9 |
| L-ferritin deficiency, dominant and recessive | 4 |
| Lacrimoauriculodentodigital Syndrome | 22 |
| Lactate Dehydrogenase B Deficiency | 1 |
| LADD syndrome 2 | 1 |
| Lafora Disease | 8 |
| Lamb-Shaffer syndrome | 2 |
| Langer Mesomelic Dysplasia Syndrome | 3 |
| Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia | 1 |
| Laron-Type Isolated Somatotropin Defect | 2 |
| Larsen Syndrome, Dominant Type | 6 |
| Laryngoonychocutaneous Syndrome | 4 |
| Late-Onset Retinal Degeneration | 5 |
| Lateral meningocele syndrome | 6 |
| Lathosterolosis | 4 |
| Lattice Corneal Dystrophy Type 3A | 2 |
| Lattice Corneal Dystrophy Type I | 2 |
| Lattice Corneal Dystrophy Type III | 2 |
| Laurence-Moon syndrome | 4 |
| Laurin-Sandrow Syndrome | 5 |
| Leber Congenital Amaurosis 1 | 8 |
| Leber Congenital Amaurosis 10 | 13 |
| Leber Congenital Amaurosis 11 | 5 |
| Leber Congenital Amaurosis 12 | 6 |
| Leber Congenital Amaurosis 13 | 8 |
| Leber Congenital Amaurosis 14 | 9 |
| Leber Congenital Amaurosis 15 | 5 |
| Leber Congenital Amaurosis 16 | 4 |
| Leber Congenital Amaurosis 17 | 5 |
| Leber Congenital Amaurosis 2 | 5 |
| Leber Congenital Amaurosis 3 | 6 |
| Leber Congenital Amaurosis 4 | 8 |
| Leber Congenital Amaurosis 5 | 7 |
| Leber Congenital Amaurosis 6 | 8 |
| Leber Congenital Amaurosis 7 | 7 |
| Leber Congenital Amaurosis 8 | 5 |
| Leber Congenital Amaurosis 9 | 5 |
| Leber congenital amaurosis with early-onset deafness | 2 |
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | 2 |
| Leber-like hereditary optic neuropathy, autosomal recessive 2 | 3 |
| Left Ventricular Noncompaction 1 | 7 |
| Left ventricular noncompaction 10 | 8 |
| Left Ventricular Noncompaction 7 | 5 |
| Left Ventricular Noncompaction 8 | 5 |
| Legg-Calve-Perthes Disease | 14 |
| Legius Syndrome | 5 |
| Leigh Syndrome | 22 |
| Leigh Syndrome, French Canadian Type | 9 |
| Leiner Disease | 2 |
| Leiomyoma, Uterine | 1 |
| Lenz Microphthalmia Syndrome | 10 |
| Lenz-Majewski Hyperostotic Dwarfism | 8 |
| LEOPARD Syndrome | 16 |
| LEOPARD Syndrome 2 | 7 |
| LEOPARD Syndrome 3 | 9 |
| Leprechaunism Syndrome | 6 |
| Leprosy 2 | 2 |
| Leri Weill Dyschondrosteosis | 3 |
| Lesch-Lyhan Syndrome | 7 |
| Lethal Arthrogryposis With Anterior Horn Cell Disease | 5 |
| Lethal Congenital Contractural Syndrome 3 | 2 |
| Lethal Congenital Contracture Syndrome 1 | 6 |
| Lethal congenital contracture syndrome 10 | 3 |
| Lethal congenital contracture syndrome 11 | 3 |
| Lethal Congenital Contracture Syndrome 2 | 2 |
| Lethal congenital contracture syndrome 4 | 3 |
| Lethal Congenital Contracture Syndrome 5 | 5 |
| Lethal congenital contracture syndrome 7 | 5 |
| Lethal congenital contracture syndrome 8 | 3 |
| Lethal congenital contracture syndrome 9 | 1 |
| Lethal Multiple Pterygium Syndrome | 10 |
| Leucine-Induced Hypoglycemia | 6 |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 2 |
| Leukemia, acute promyelocytic, somatic | 1 |
| Leukemia, megakaryoblastic, with or without Down syndrome, somatic | 1 |
| Leukocyte Adhesion Deficiency Type 1 | 4 |
| Leukocyte Adhesion Deficiency, Type III | 4 |
| Leukodystrophy and acquired microcephaly with or without dystonia | 3 |
| Leukodystrophy, Hypomyelinating 3 | 6 |
| Leukodystrophy, hypomyelinating, 10 | 5 |
| Leukodystrophy, Hypomyelinating, 11 | 6 |
| Leukodystrophy, hypomyelinating, 12 | 4 |
| Leukodystrophy, hypomyelinating, 13 | 2 |
| Leukodystrophy, hypomyelinating, 14 | 3 |
| Leukodystrophy, hypomyelinating, 15 | 6 |
| Leukodystrophy, hypomyelinating, 16 | 2 |
| Leukodystrophy, hypomyelinating, 17 | 4 |
| Leukodystrophy, hypomyelinating, 18 | 4 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 1 |
| Leukodystrophy, Hypomyelinating, 2 | 5 |
| Leukodystrophy, hypomyelinating, 20 | 1 |
| Leukodystrophy, hypomyelinating, 21 | 1 |
| Leukodystrophy, hypomyelinating, 22 | 1 |
| Leukodystrophy, hypomyelinating, 27 | 1 |
| Leukodystrophy, Hypomyelinating, 4 | 7 |
| Leukodystrophy, Hypomyelinating, 6 | 6 |
| Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism | 9 |
| Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism | 9 |
| Leukodystrophy, Hypomyelinating, 9 | 6 |
| Leukodystrophy, progressive, early childhood-onset | 1 |
| Leukoencephalopathy with Ataxia | 6 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation | 7 |
| Leukoencephalopathy with Dystonia and Motor Neuropathy | 6 |
| Leukoencephalopathy With Vanishing White Matter | 18 |
| Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure | 1 |
| Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure | 1 |
| Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure | 1 |
| Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure | 2 |
| Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 1 |
| Leukoencephalopathy, brain calcifications, and cysts | 4 |
| Leukoencephalopathy, Cystic, Without Megalencephaly | 4 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 2 |
| Leukoencephalopathy, Diffuse Hereditary, with Spheroids | 9 |
| Leukoencephalopathy, hereditary diffuse, with spheroids 2 | 2 |
| Leukoencephalopathy, porphyria-related | 2 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 3 |
| Leukoencephalopathy, Progressive, with Ovarian Failure | 7 |
| Leukonychia Totalis | 1 |
| Lewy Body Dementia | 10 |
| Leydig Cell Hypoplasia, Type I | 2 |
| Li-Campeau syndrome | 2 |
| Li-Fraumeni Syndrome | 22 |
| Li-Fraumeni Syndrome 2 | 8 |
| Li-Ghorgani-Weisz-Hubshman syndrome | 1 |
| Liang-Wang syndrome | 6 |
| Liberfarb syndrome | 4 |
| Lichtenstein-Knorr syndrome | 3 |
| Liddle Syndrome | 5 |
| Liddle syndrome 2 | 1 |
| Liddle syndrome 3 | 1 |
| Liebenberg Syndrome | 5 |
| Lig4 Syndrome | 9 |
| Limb-Girdle Muscular Dystrophy, Type 1A | 5 |
| Limb-Girdle Muscular Dystrophy, Type 1B | 6 |
| Limb-Girdle Muscular Dystrophy, Type 1F | 5 |
| Limb-Girdle Muscular Dystrophy, Type 2A | 5 |
| Limb-Girdle Muscular Dystrophy, Type 2B | 7 |
| Limb-Girdle Muscular Dystrophy, Type 2D | 5 |
| Limb-Girdle Muscular Dystrophy, Type 2E | 5 |
| Limb-Girdle Muscular Dystrophy, Type 2F | 7 |
| Limb-Girdle Muscular Dystrophy, Type 2G | 9 |
| Limb-Girdle Muscular Dystrophy, Type 2H | 9 |
| Limb-Girdle Muscular Dystrophy, Type 2Y | 3 |
| Limb-Mammary Syndrome | 10 |
| Linear Skin Defects with Multiple Congenital Anomalies 2 | 5 |
| Linear skin defects with multiple congenital anomalies 3 | 5 |
| Lipase Deficiency Combined | 3 |
| Lipid Proteinosis | 1 |
| Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency | 5 |
| Lipodystrophy, Congenital Generalized, Type 3 | 7 |
| Lipodystrophy, Congenital Generalized, Type 4 | 7 |
| Lipodystrophy, Familial Partial, Type 2 | 9 |
| Lipodystrophy, Familial Partial, Type 3 | 5 |
| Lipodystrophy, Familial Partial, Type 4 | 3 |
| Lipodystrophy, familial partial, type 5 | 3 |
| Lipodystrophy, familial partial, type 6 | 4 |
| Lipoprotein Glomerulopathy | 4 |
| Lipoyltransferase 1 Deficiency | 6 |
| Lisch epithelial corneal dystrophy | 1 |
| Lissencephaly 1 | 9 |
| Lissencephaly 10 | 3 |
| Lissencephaly 2 | 7 |
| Lissencephaly 3 | 8 |
| Lissencephaly 4 | 8 |
| Lissencephaly 5 | 7 |
| Lissencephaly 6, with microcephaly | 7 |
| Lissencephaly 7 with cerebellar hypoplasia | 3 |
| Lissencephaly 8 | 5 |
| Lissencephaly 9 with complex brainstem malformation | 5 |
| Liver Cancer | 14 |
| Liver Failure Acute Infantile | 4 |
| Loeys-Dietz Syndrome 1 | 14 |
| Loeys-Dietz Syndrome 2 | 16 |
| Loeys-Dietz Syndrome 3 | 11 |
| Loeys-Dietz Syndrome 4 | 12 |
| Loeys-Dietz Syndrome 5 | 12 |
| Loeys-Dietz syndrome 6 | 1 |
| Long QT Syndrome 1 | 8 |
| Long QT Syndrome 10 | 8 |
| Long QT Syndrome 11 | 8 |
| Long QT Syndrome 12 | 8 |
| Long QT Syndrome 13 | 7 |
| Long QT Syndrome 14 | 7 |
| Long QT Syndrome 15 | 7 |
| Long QT Syndrome 2 | 7 |
| Long QT Syndrome 3 | 7 |
| Long QT Syndrome 4 | 10 |
| Long QT Syndrome 5 | 8 |
| Long QT Syndrome 6 | 8 |
| Long QT syndrome 8 | 8 |
| Long QT Syndrome 9 | 10 |
| Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | 13 |
| Lopes-Maciel-Rodan syndrome | 1 |
| Lowe Syndrome | 13 |
| Lower urinary tract obstruction, congenital | 2 |
| Lowry-Wood syndrome | 3 |
| Lucey-Driscoll Syndrome | 3 |
| Lujan-Fryns Syndrome | 15 |
| Lung Cancer | 24 |
| Lung disease, immunodeficiency, and chromosome breakage syndrome | 2 |
| Luo-Schoch-Yamamoto syndrome | 1 |
| Luscan-Lumish Syndrome | 6 |
| Lymphangioleiomyomatosis | 7 |
| Lymphatic malformation 12 | 1 |
| Lymphatic malformation 7 | 3 |
| Lymphedema, Hereditary, ID | 1 |
| Lymphedema, Hereditary, III | 6 |
| Lymphedema, Primary, With Myelodysplasia | 7 |
| Lymphoproliferative Syndrome 2 | 3 |
| Lymphoproliferative syndrome 3 | 1 |
| Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 | 6 |
| Lymphoproliferative Syndrome, X-Linked, 1 | 10 |
| Lymphoproliferative Syndrome, X-Linked, 2 | 9 |
| Lynch Syndrome I | 17 |
| Lynch Syndrome II | 15 |
| Lysinuric Protein Intolerance | 7 |
| Lysosomal Acid Lipase Deficiency | 9 |
| Macrocephaly, acquired, with impaired intellectual development | 2 |
| Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis | 6 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 4 |
| Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | 1 |
| Macrocephaly/Autism Syndrome | 14 |
| Macrocephaly/megalencephaly syndrome, autosomal recessive | 2 |
| Macrodactyly, somatic | 6 |
| Macroglobulinemia, Waldenstrom, somatic | 1 |
| Macrothrombocytopenia And Progressive Sensorineural Deafness | 2 |
| Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related | 4 |
| Macrothrombocytopenia, isolated, 2, autosomal dominant | 2 |
| Macular Corneal Dystrophy Type I | 6 |
| Macular degeneration, age-related, 13, susceptibility to | 1 |
| Macular degeneration, age-related, 14, reduced risk of | 3 |
| Macular degeneration, age-related, 15, susceptibility to | 1 |
| Macular Degeneration, Age-Related, 2 | 3 |
| Macular Degeneration, Early-Onset | 5 |
| Macular Degeneration, X-Linked Atrophic | 11 |
| Macular Dystrophy with Central Cone Involvement | 8 |
| Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 | 3 |
| Macular dystrophy, patterned, 3 | 2 |
| Macular Dystrophy, Retinal, 2 | 4 |
| Macular Dystrophy, Vitelliform, 4 | 6 |
| Macular Dystrophy, Vitelliform, 5 | 2 |
| Macular Dystrophy, Vitelliform, Adult-Onset | 6 |
| Majeed Syndrome | 7 |
| Malaria, Susceptibility To Malaria, Resistance To, Included | 7 |
| Malignant Hyperthermia | 7 |
| Malignant Hyperthermia Susceptibility Type 5 | 4 |
| Malignant Mesothelioma | 10 |
| Malonyl-CoA Decarboxylase Deficiency | 9 |
| Malouf Syndrome | 12 |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 6 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy | 8 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy | 5 |
| Mandibulofacial dysostosis with alopecia | 1 |
| Mandibulofacial dysostosis, Guion-Almeida type | 12 |
| Manitoba Oculotrichoanal Syndrome | 12 |
| Mannose-Binding Protein Deficiency | 4 |
| Maple Syrup Urine Disease | 11 |
| Maple syrup urine disease, mild variant | 1 |
| Maple syrup urine disease, type Ib | 1 |
| Maple syrup urine disease, type II | 1 |
| Marden Walker Like Syndrome | 2 |
| Marden-Walker Syndrome | 5 |
| Marfan lipodystrophy syndrome | 16 |
| Marfan Syndrome | 22 |
| Marinesco-Sjogren Syndrome | 9 |
| Marshall Syndrome | 14 |
| Marshall-Smith Syndrome | 6 |
| Martsolf Syndrome | 9 |
| Martsolf syndrome 2 | 4 |
| MASA Syndrome | 9 |
| Masp2 Deficiency | 3 |
| Mass Syndrome | 16 |
| Mast Syndrome | 4 |
| Mastocytosis, cutaneous | 4 |
| Maturity-Onset Diabetes Of The Young, Type 1 | 11 |
| Maturity-Onset Diabetes Of The Young, Type 10 | 7 |
| Maturity-Onset Diabetes Of The Young, Type 11 | 6 |
| Maturity-onset diabetes of the young, type 13 | 5 |
| Maturity-Onset Diabetes Of The Young, Type 14 | 5 |
| Maturity-Onset Diabetes Of The Young, Type 2 | 5 |
| Maturity-Onset Diabetes Of The Young, Type 3 | 8 |
| Maturity-Onset Diabetes Of The Young, Type 4 | 8 |
| Maturity-Onset Diabetes Of The Young, Type 5 | 16 |
| Maturity-Onset Diabetes Of The Young, Type 6 | 6 |
| Maturity-Onset Diabetes Of The Young, Type 7 | 5 |
| Maturity-Onset Diabetes Of The Young, Type 8 | 1 |
| Maturity-Onset Diabetes Of The Young, Type 9 | 6 |
| May-Hegglin Anomaly | 12 |
| Mccune-Albright Syndrome | 1 |
| Mckusick Kaufman Syndrome | 12 |
| McLeod Syndrome | 5 |
| Meacham Syndrome | 8 |
| Meckel Syndrome 1 | 15 |
| Meckel Syndrome 10 | 11 |
| Meckel syndrome 11 | 10 |
| Meckel Syndrome 12 | 7 |
| Meckel Syndrome 13 | 9 |
| Meckel syndrome 14 | 1 |
| Meckel Syndrome 2 | 13 |
| Meckel Syndrome 3 | 13 |
| Meckel Syndrome 4 | 15 |
| Meckel Syndrome 5 | 16 |
| Meckel Syndrome 6 | 16 |
| Meckel Syndrome 7 | 12 |
| Meckel Syndrome 8 | 14 |
| Meckel Syndrome 9 | 14 |
| Meconium ileus | 5 |
| MECP2 Duplication Syndrome | 8 |
| Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | 10 |
| MEDNIK Syndrome | 4 |
| Medullary Cystic Kidney Disease 1 | 3 |
| Medullary Cystic Kidney Disease 2 | 3 |
| Medulloblastoma | 19 |
| Meesmann Corneal Dystrophy | 4 |
| Meesmann corneal dystrophy 2 | 1 |
| Meester-Loeys syndrome | 5 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 3 |
| Megabladder, congenital | 1 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome | 5 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 4 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 | 1 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | 1 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 1 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts | 8 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A | 9 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation | 9 |
| Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic | 13 |
| Megalencephaly-polydactyly syndrome | 1 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 | 12 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 | 11 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 | 9 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | 6 |
| Megaloblastic Anemia Due To Inborn Errors Of Metabolism | 4 |
| Megaloblastic anemia, folate-responsive | 1 |
| Megalocornea 1, X-linked | 1 |
| MEHMO Syndrome | 3 |
| Meier-Gorlin Syndrome 1 | 4 |
| Meier-Gorlin Syndrome 2 | 4 |
| Meier-Gorlin Syndrome 3 | 4 |
| Meier-Gorlin Syndrome 4 | 5 |
| Meier-Gorlin Syndrome 5 | 4 |
| Meier-Gorlin syndrome 6 | 1 |
| Meier-Gorlin syndrome 7 | 1 |
| Melanoma Astrocytoma Syndrome | 4 |
| Melanoma, Cutaneous Malignant 2 | 6 |
| Melanoma, Cutaneous Malignant 3 | 6 |
| Melanoma, Cutaneous Malignant, 9 | 8 |
| Melanoma, Cutaneous Malignant, Susceptibility to, 10 | 7 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 8 |
| Melanoma-Pancreatic Cancer Syndrome | 6 |
| Melnick-Needles Syndrome | 16 |
| Melorheostosis | 2 |
| MEND Syndrome | 10 |
| Meningioma, Familial | 22 |
| Menke-Hennekam syndrome 1 | 11 |
| Menke-Hennekam syndrome 2 | 9 |
| Menkes Kinky-Hair Syndrome | 19 |
| Mental Retardation 105 | 1 |
| Mental Retardation and Distinctive Facial Features with or without Cardiac Defects | 8 |
| Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia | 11 |
| Mental Retardation With Language Impairment And Autistic Features | 8 |
| Mental Retardation, Autosomal Dominant 1 | 9 |
| Mental Retardation, Autosomal Dominant 13; MRD13 | 12 |
| Mental Retardation, Autosomal Dominant 18 | 4 |
| Mental Retardation, Autosomal dominant 19 | 7 |
| Mental Retardation, Autosomal Dominant 21 | 6 |
| Mental retardation, autosomal dominant 22 | 5 |
| Mental Retardation, Autosomal Dominant 23 | 8 |
| Mental Retardation, Autosomal Dominant 24 | 6 |
| Mental Retardation, Autosomal Dominant 26 | 3 |
| Mental Retardation, Autosomal Dominant 29 | 7 |
| Mental Retardation, Autosomal Dominant 30 | 3 |
| Mental Retardation, Autosomal Dominant 31 | 8 |
| Mental retardation, autosomal dominant 32 | 6 |
| Mental retardation, autosomal dominant 33 | 1 |
| Mental retardation, autosomal dominant 34 | 1 |
| Mental retardation, autosomal dominant 35 | 4 |
| Mental Retardation, Autosomal Dominant 36 | 1 |
| Mental retardation, autosomal dominant 38 | 4 |
| Mental Retardation, Autosomal Dominant 39 | 4 |
| Mental retardation, autosomal dominant 40 | 6 |
| Mental Retardation, Autosomal Dominant 41 | 4 |
| Mental Retardation, Autosomal Dominant 42 | 3 |
| Mental Retardation, Autosomal Dominant 43 | 3 |
| Mental Retardation, Autosomal Dominant 44 | 5 |
| Mental retardation, autosomal dominant 45 | 3 |
| Mental retardation, autosomal dominant 46 | 3 |
| Mental retardation, autosomal dominant 47 | 2 |
| Mental retardation, autosomal dominant 48 | 2 |
| Mental Retardation, Autosomal Dominant 49 | 5 |
| Mental Retardation, Autosomal Dominant 5 | 6 |
| Mental Retardation, Autosomal Dominant 50 | 5 |
| Mental Retardation, Autosomal Dominant 51 | 3 |
| Mental Retardation, Autosomal Dominant 52 | 5 |
| Mental retardation, autosomal dominant 53 | 1 |
| Mental retardation, autosomal dominant 54 | 3 |
| Mental Retardation, Autosomal Dominant 55, with Seizures | 4 |
| Mental Retardation, Autosomal Dominant 56 | 5 |
| Mental retardation, autosomal dominant 57 | 3 |
| Mental retardation, autosomal dominant 58 | 1 |
| Mental Retardation, Autosomal Dominant 6 | 12 |
| Mental Retardation, Autosomal Dominant 7 | 7 |
| Mental Retardation, Autosomal Dominant 8 | 6 |
| Mental Retardation, Autosomal Dominant 9 | 9 |
| Mental Retardation, Autosomal Dominant, 27 | 10 |
| Mental Retardation, Autosomal Recessive 1 | 1 |
| Mental Retardation, Autosomal Recessive 12 | 5 |
| Mental Retardation, Autosomal Recessive 13 | 5 |
| Mental Retardation, Autosomal Recessive 14 | 2 |
| Mental Retardation, Autosomal Recessive 15 | 5 |
| Mental Retardation, Autosomal Recessive 18 | 1 |
| Mental Retardation, Autosomal Recessive 2 | 2 |
| Mental Retardation, Autosomal Recessive 3 | 2 |
| Mental retardation, autosomal recessive 34, with variant lissencephaly | 3 |
| Mental Retardation, Autosomal Recessive 36 | 3 |
| Mental retardation, autosomal recessive 38 | 1 |
| Mental retardation, autosomal recessive 40 | 1 |
| Mental retardation, autosomal recessive 41 | 3 |
| Mental retardation, autosomal recessive 42 | 5 |
| Mental Retardation, Autosomal Recessive 43 | 1 |
| Mental Retardation, Autosomal Recessive 44 | 1 |
| Mental Retardation, Autosomal Recessive 46 | 3 |
| Mental Retardation, Autosomal Recessive 47 | 2 |
| Mental retardation, autosomal recessive 48 | 2 |
| Mental retardation, autosomal recessive 49 | 3 |
| Mental retardation, autosomal recessive 5 | 3 |
| Mental Retardation, Autosomal Recessive 53 | 6 |
| Mental retardation, autosomal recessive 55 | 3 |
| Mental retardation, autosomal recessive 57 | 5 |
| Mental Retardation, Autosomal Recessive 58 | 2 |
| Mental Retardation, Autosomal Recessive 6 | 4 |
| Mental retardation, autosomal recessive 61 | 1 |
| Mental retardation, autosomal recessive 63 | 1 |
| Mental retardation, autosomal recessive 64 | 1 |
| Mental retardation, autosomal recessive 65 | 2 |
| Mental retardation, autosomal recessive 66 | 1 |
| Mental retardation, autosomal recessive 67 | 2 |
| Mental retardation, autosomal recessive 68 | 2 |
| Mental Retardation, Autosomal Recessive 7 | 4 |
| Mental retardation, autosomal recessive, 37 | 3 |
| Mental retardation, autosomal recessive, 52 | 1 |
| Mental Retardation, Fra12a Type | 1 |
| Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations | 8 |
| Mental Retardation, X-Linked 1/78 | 8 |
| Mental Retardation, X-linked 100 | 3 |
| Mental Retardation, X-linked 101 | 2 |
| Mental Retardation, X-Linked 102 | 10 |
| Mental Retardation, X-linked 103 | 2 |
| Mental Retardation, X-linked 104 | 2 |
| Mental retardation, X-linked 106 | 4 |
| Mental retardation, X-linked 107 | 1 |
| Mental Retardation, X-linked 12/35 | 3 |
| Mental Retardation, X-Linked 19 | 4 |
| Mental Retardation, X-Linked 21 | 5 |
| Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type) | 8 |
| Mental Retardation, X-Linked 30 | 4 |
| Mental Retardation, X-Linked 41 | 2 |
| Mental Retardation, X-Linked 46 | 1 |
| Mental Retardation, X-linked 49 | 7 |
| Mental Retardation, X-Linked 58 | 1 |
| Mental Retardation, X-linked 61 | 3 |
| Mental Retardation, X-Linked 63 | 5 |
| Mental Retardation, X-Linked 72 | 8 |
| Mental Retardation, X-Linked 9 | 3 |
| Mental Retardation, X-Linked 90 | 4 |
| Mental Retardation, X-Linked 93 | 4 |
| Mental Retardation, X-Linked 96 | 2 |
| Mental Retardation, X-Linked 97 | 2 |
| Mental Retardation, X-linked 98 | 6 |
| Mental Retardation, X-linked 99 | 5 |
| Mental retardation, X-linked 99, Syndromic, Female-Restricted | 5 |
| Mental retardation, X-linked syndromic, Turner type | 7 |
| Mental Retardation, X-linked, FRAXE Type | 3 |
| Mental Retardation, X-Linked, Syndromic 10 | 1 |
| Mental Retardation, X-Linked, Syndromic 13 | 8 |
| Mental Retardation, X-Linked, Syndromic 14 | 7 |
| Mental Retardation, X-linked, Syndromic 32 | 1 |
| Mental Retardation, X-linked, Syndromic 33 | 8 |
| Mental Retardation, X-linked, Syndromic 34 | 5 |
| Mental Retardation, X-linked, Syndromic, 35 | 5 |
| Mental Retardation, X-linked, Syndromic, Bain Type | 4 |
| Mental Retardation, X-Linked, Syndromic, Christianson Type | 9 |
| Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type | 9 |
| Mental Retardation, X-Linked, Syndromic, Hedera Type | 6 |
| Mental retardation, X-linked, syndromic, Houge type | 3 |
| Mental Retardation, X-Linked, Syndromic, Nascimento Type | 4 |
| Mental Retardation, X-Linked, Syndromic, Raymond Type | 3 |
| Mental Retardation, X-Linked, Syndromic, Wu Type | 8 |
| Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related | 12 |
| Mental Retardation, X-Linked, With Panhypopituitarism | 5 |
| Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait | 10 |
| Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 | 14 |
| Merosin Deficient Congenital Muscular Dystrophy | 12 |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 6 |
| Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | 17 |
| Metabolic Syndrome X | 4 |
| Metacarpal 4-5 fusion | 3 |
| Metachondromatosis | 12 |
| Metachromatic Leukodystrophy | 12 |
| Metaphyseal Anadysplasia 2 | 1 |
| Metaphyseal Chondrodysplasia, Jansen Type | 3 |
| Metaphyseal Chondrodysplasia, Mckusick Type | 6 |
| Metaphyseal Chondrodysplasia, Schmid Type | 3 |
| Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | 1 |
| Metaphyseal Dysplasia Without Hypotrichosis | 6 |
| Metaphyseal Dysplasia, Spahr Type | 1 |
| Metatropic Dwarfism | 5 |
| Methemoglobinemia | 5 |
| Methemoglobinemia and Ambiguous Genitalia | 4 |
| Methemoglobinemia, alpha type | 2 |
| Methemoglobinemia, beta type | 1 |
| Methionine Adenosyltransferase I/III Deficiency | 6 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | 7 |
| Methylmalonic Aciduria and Homocystinuria, cblC Type | 11 |
| Methylmalonic Aciduria and Homocystinuria, cblD Type | 11 |
| Methylmalonic Aciduria and Homocystinuria, cblF Type | 7 |
| Methylmalonic Aciduria and Homocystinuria, cblJ Type | 5 |
| Methylmalonic Aciduria Cbla Type | 7 |
| Methylmalonic Aciduria Cblb Type | 7 |
| Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency | 9 |
| Methylmalonic Aciduria Due To Transcobalamin Receptor Defect | 6 |
| Methylmalonyl-CoA Epimerase Deficiency | 5 |
| Mevalonic Aciduria | 10 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 13 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type 2 | 9 |
| Microcephaly 10, primary, autosomal recessive | 4 |
| Microcephaly 11, primary, autosomal recessive | 1 |
| Microcephaly 12, primary, autosomal recessive | 1 |
| Microcephaly 13, primary, autosomal recessive | 3 |
| Microcephaly 14, primary, autosomal recessive | 2 |
| Microcephaly 15, primary, autosomal recessive | 5 |
| Microcephaly 16, primary, autosomal recessive | 4 |
| Microcephaly 18, Primary, Autosomal Dominant | 2 |
| Microcephaly 19, primary, autosomal recessive | 1 |
| Microcephaly 20, primary, autosomal recessive | 5 |
| Microcephaly 22, primary, autosomal recessive | 3 |
| Microcephaly 26, primary, autosomal dominant | 1 |
| Microcephaly 27, primary, autosomal dominant | 1 |
| Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 | 7 |
| Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 | 6 |
| Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 | 4 |
| Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation | 10 |
| Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | 1 |
| Microcephaly, congenital cataract, and psoriasiform dermatitis | 3 |
| Microcephaly, developmental delay, and brittle hair syndrome | 2 |
| Microcephaly, Epilepsy, And Diabetes Syndrome | 5 |
| Microcephaly, epilepsy, and diabetes syndrome 2 | 1 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 5 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 7 |
| Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 2 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy | 5 |
| Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy | 5 |
| Microcephaly, seizures, spasticity, and brain calcification | 2 |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 4 |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 6 |
| Microcephaly, short stature, and limb abnormalities | 2 |
| Microcephaly, short stature, and polymicrogyria with seizures | 7 |
| Microcephaly-capillary malformation syndrome | 4 |
| Microcephaly-micromelia syndrome | 2 |
| Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus | 5 |
| Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 | 1 |
| Microcytic Anemia | 2 |
| Microhydranencephaly | 7 |
| Microphthalmia Syndromic 3 | 18 |
| Microphthalmia Syndromic 5 | 12 |
| Microphthalmia Syndromic 6 | 19 |
| Microphthalmia Syndromic 7 | 11 |
| Microphthalmia Syndromic 9 | 5 |
| Microphthalmia With Limb Anomalies | 7 |
| Microphthalmia, Isolated 2 | 5 |
| Microphthalmia, Isolated 3 | 4 |
| Microphthalmia, Isolated 4 | 6 |
| Microphthalmia, Isolated 5 | 9 |
| Microphthalmia, Isolated 6 | 4 |
| Microphthalmia, Isolated 7 | 5 |
| Microphthalmia, Isolated 8 | 6 |
| Microphthalmia, Isolated, with Coloboma 10 | 4 |
| Microphthalmia, Isolated, With Coloboma 3 | 5 |
| Microphthalmia, Isolated, With Coloboma 5 | 8 |
| Microphthalmia, Isolated, With Coloboma 6 | 6 |
| Microphthalmia, isolated, with coloboma 7 | 5 |
| Microphthalmia, Isolated, with Coloboma 9 | 3 |
| Microphthalmia, syndromic 11 | 4 |
| Microphthalmia, syndromic 12 | 5 |
| Microphthalmia, Syndromic 13 | 4 |
| Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome | 7 |
| Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma | 9 |
| Microtia, Hearing Impairment, And Cleft Palate | 2 |
| Microvascular Complications Of Diabetes 2 | 3 |
| Microvascular Complications Of Diabetes 3 | 3 |
| Microvascular Complications Of Diabetes 4 | 1 |
| Microvascular Complications Of Diabetes 5 | 1 |
| Microvascular Complications Of Diabetes 7 | 1 |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 2 |
| Migraine | 2 |
| Migraine, With Or Without Aura 13 | 1 |
| Miller Syndrome | 9 |
| Miller-Dieker Lissencephaly Syndrome | 1 |
| Minicore Myopathy With External Ophthalmoplegia | 8 |
| MIRAGE syndrome | 8 |
| Mirror movements 2 | 5 |
| Mirror movements 4 | 1 |
| Mirror Movements, Congenital | 3 |
| Mismatch repair cancer syndrome 2 | 3 |
| Mismatch repair cancer syndrome 3 | 3 |
| Mismatch repair cancer syndrome 4 | 5 |
| Mitchell syndrome | 4 |
| Mitchell-Riley syndrome | 6 |
| Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency | 6 |
| Mitochondrial Complex I Deficiency | 24 |
| Mitochondrial Complex I Deficiency due to ACAD9 Deficiency | 10 |
| Mitochondrial complex I deficiency, nuclear type 10 | 5 |
| Mitochondrial complex I deficiency, nuclear type 11 | 3 |
| Mitochondrial complex I deficiency, nuclear type 12 | 7 |
| Mitochondrial complex I deficiency, nuclear type 13 | 5 |
| Mitochondrial complex I deficiency, nuclear type 14 | 4 |
| Mitochondrial complex I deficiency, nuclear type 15 | 5 |
| Mitochondrial complex I deficiency, nuclear type 16 | 8 |
| Mitochondrial complex I deficiency, nuclear type 17 | 5 |
| Mitochondrial complex I deficiency, nuclear type 18 | 6 |
| Mitochondrial complex I deficiency, nuclear type 19 | 5 |
| Mitochondrial complex I deficiency, nuclear type 2 | 5 |
| Mitochondrial complex I deficiency, nuclear type 21 | 4 |
| Mitochondrial complex I deficiency, nuclear type 22 | 5 |
| Mitochondrial complex I deficiency, nuclear type 23 | 6 |
| Mitochondrial complex I deficiency, nuclear type 24 | 3 |
| Mitochondrial complex I deficiency, nuclear type 25 | 4 |
| Mitochondrial complex I deficiency, nuclear type 26 | 4 |
| Mitochondrial complex I deficiency, nuclear type 27 | 5 |
| Mitochondrial complex I deficiency, nuclear type 28 | 3 |
| Mitochondrial complex I deficiency, nuclear type 29 | 3 |
| Mitochondrial complex I deficiency, nuclear type 3 | 6 |
| Mitochondrial complex I deficiency, nuclear type 30 | 5 |
| Mitochondrial complex I deficiency, nuclear type 31 | 3 |
| Mitochondrial complex I deficiency, nuclear type 32 | 5 |
| Mitochondrial complex I deficiency, nuclear type 33 | 2 |
| Mitochondrial complex I deficiency, nuclear type 34 | 4 |
| Mitochondrial complex I deficiency, nuclear type 35 | 2 |
| Mitochondrial complex I deficiency, nuclear type 36 | 1 |
| Mitochondrial complex I deficiency, nuclear type 37 | 1 |
| Mitochondrial complex I deficiency, nuclear type 4 | 6 |
| Mitochondrial complex I deficiency, nuclear type 5 | 5 |
| Mitochondrial complex I deficiency, nuclear type 6 | 6 |
| Mitochondrial complex I deficiency, nuclear type 7 | 4 |
| Mitochondrial complex I deficiency, nuclear type 8 | 5 |
| Mitochondrial complex I deficiency, nuclear type 9 | 4 |
| Mitochondrial Complex II Deficiency | 11 |
| Mitochondrial complex II deficiency, nuclear type 2 | 2 |
| Mitochondrial complex II deficiency, nuclear type 3 | 2 |
| Mitochondrial complex II deficiency, nuclear type 4 | 2 |
| Mitochondrial Complex III Deficiency | 7 |
| Mitochondrial complex III deficiency, nuclear type 10 | 3 |
| Mitochondrial Complex III Deficiency, Nuclear Type 2 | 8 |
| Mitochondrial Complex III Deficiency, Nuclear Type 3 | 6 |
| Mitochondrial Complex III Deficiency, Nuclear Type 4 | 6 |
| Mitochondrial Complex III Deficiency, Nuclear Type 5 | 8 |
| Mitochondrial Complex III Deficiency, Nuclear Type 6 | 5 |
| Mitochondrial Complex III Deficiency, Nuclear Type 7 | 6 |
| Mitochondrial Complex III Deficiency, Nuclear Type 8 | 7 |
| Mitochondrial Complex III Deficiency, Nuclear Type 9 | 6 |
| Mitochondrial Complex IV Deficiency | 19 |
| Mitochondrial complex IV deficiency, nuclear type 10 | 2 |
| Mitochondrial complex IV deficiency, nuclear type 11 | 4 |
| Mitochondrial complex IV deficiency, nuclear type 12 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 14 | 2 |
| Mitochondrial complex IV deficiency, nuclear type 15 | 2 |
| Mitochondrial complex IV deficiency, nuclear type 16 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 17 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 18 | 1 |
| Mitochondrial complex IV deficiency, nuclear type 19 | 1 |
| Mitochondrial complex IV deficiency, nuclear type 20 | 1 |
| Mitochondrial complex IV deficiency, nuclear type 21 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 22 | 1 |
| Mitochondrial complex IV deficiency, nuclear type 3 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 4 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 7 | 4 |
| Mitochondrial complex IV deficiency, nuclear type 8 | 5 |
| Mitochondrial complex V (ATP synthase) deficiency | 5 |
| Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 | 6 |
| Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 | 12 |
| Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 | 6 |
| Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4 | 5 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | 1 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 | 2 |
| Mitochondrial DNA depletion syndrome 11 | 11 |
| Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) | 9 |
| Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type) AD | 8 |
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 15 |
| Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type) | 8 |
| Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 3 |
| Mitochondrial DNA depletion syndrome 16 (hepatic type) | 8 |
| Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) | 6 |
| Mitochondrial DNA depletion syndrome 17 | 2 |
| Mitochondrial DNA depletion syndrome 18 | 3 |
| Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) | 17 |
| Mitochondrial DNA depletion syndrome 20 (MNGIE type) | 1 |
| Mitochondrial DNA Depletion Syndrome 4B, Mngie Type | 16 |
| Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) | 16 |
| Mitochondrial DNA Depletion Syndrome 7 | 16 |
| Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic With Methylmalonic Aciduria) | 13 |
| Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy | 13 |
| Mitochondrial DNA-Depletion Syndrome 3, Hepatocerebral | 10 |
| Mitochondrial myopathy with lactic acidosis | 6 |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 6 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome | 14 |
| Mitochondrial Phosphate Carrier Deficiency | 7 |
| Mitochondrial Pyruvate Carrier Deficiency | 6 |
| Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency | 7 |
| Mitochondrial trifunctional protein deficiency 2 | 2 |
| Mitral valve prolapse 2 | 5 |
| Mitral valve prolapse 3 | 1 |
| Miyoshi Muscular Dystrophy 3 | 7 |
| Miyoshi Myopathy | 6 |
| Mohr-Tranebjaerg Syndrome | 11 |
| Molybdenum Cofactor Deficiency C | 6 |
| Molybdenum Cofactor Deficiency Type A | 18 |
| Molybdenum Cofactor Deficiency Type B | 7 |
| Monoamine Oxidase A Deficiency | 5 |
| Monocarboxylate Transporter 1 Deficiency | 5 |
| Mononeuropathy Of The Median Nerve, Mild | 2 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 3 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 3 |
| Morbid obesity and spermatogenic failure | 1 |
| MORM Syndrome | 13 |
| Morquio Syndrome A | 5 |
| Mosaic Variegated Aneuploidy Syndrome | 6 |
| Mosaic Variegated Aneuploidy Syndrome 2 | 2 |
| Mosaic Variegated Aneuploidy Syndrome 3 | 4 |
| Mowat-Wilson Syndrome | 15 |
| Moyamoya 6 with achalasia | 3 |
| Moyamoya Disease 2 | 1 |
| Moyamoya Disease 5 | 8 |
| Mucocutaneous ulceration, chronic | 2 |
| Mucolipidosis III Gamma | 9 |
| Mucopolysaccharidosis Type IX | 3 |
| Mucopolysaccharidosis Type VI | 4 |
| Mucopolysaccharidosis Type VII | 7 |
| Mucopolysaccharidosis, MPS-I-H/S | 7 |
| Mucopolysaccharidosis, MPS-I-S | 7 |
| Mucopolysaccharidosis, MPS-II | 7 |
| Mucopolysaccharidosis, MPS-III-A | 8 |
| Mucopolysaccharidosis, MPS-III-B | 8 |
| Mucopolysaccharidosis, MPS-III-C | 8 |
| Mucopolysaccharidosis, MPS-III-D | 8 |
| Mucopolysaccharidosis, MPS-IV-B | 8 |
| Mucopolysaccharidosis-plus syndrome | 4 |
| Muenke Syndrome | 14 |
| Muir-Torre Syndrome | 13 |
| Mulibrey Nanism Syndrome | 4 |
| Mullerian Aplasia And Hyperandrogenism | 8 |
| Multicentric carpotarsal osteolysis syndrome | 6 |
| Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | 4 |
| Multiple Carboxylase Deficiency, Juvenile Onset | 8 |
| Multiple Carboxylase Defiency, Early Onset | 7 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome | 11 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 | 16 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 6 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 3 |
| Multiple Cutaneous And Mucosal Venous Malformations | 1 |
| Multiple Endocrine Neoplasia, Type 1 | 4 |
| Multiple Endocrine Neoplasia, Type 2A | 8 |
| Multiple Endocrine Neoplasia, Type 2B | 8 |
| Multiple Endocrine Neoplasia, Type IV | 3 |
| Multiple Epiphyseal Dysplasia 1 | 5 |
| Multiple Epiphyseal Dysplasia 2 | 9 |
| Multiple Epiphyseal Dysplasia 3 | 7 |
| Multiple Epiphyseal Dysplasia 4 | 8 |
| Multiple Epiphyseal Dysplasia 5 | 5 |
| Multiple Epiphyseal Dysplasia 6 | 10 |
| Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects | 7 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 | 6 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 | 8 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 | 6 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 | 7 |
| Multiple mitochondrial dysfunctions syndrome 5 | 2 |
| Multiple mitochondrial dysfunctions syndrome 6 | 4 |
| Multiple mitochondrial dysfunctions syndrome 7 | 1 |
| Multiple Myeloma | 6 |
| Multiple Sclerosis Susceptibility | 2 |
| Multiple sclerosis, susceptibility to, 5 | 4 |
| Multiple Self Healing Squamous Epithelioma | 8 |
| Multiple Sulfatase Deficiency | 8 |
| Multiple Synostoses Syndrome 1 | 6 |
| Multiple Synostoses Syndrome 2 | 6 |
| Multiple Synostoses Syndrome 3 | 1 |
| Multiple synostoses syndrome 4 | 4 |
| Multiple system atrophy, susceptibility to | 8 |
| Multisystemic Smooth Muscle Dysfunction Syndrome | 8 |
| Mungan syndrome | 9 |
| Muscle Eye Brain Disease | 15 |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 2 |
| Muscular dystrophy, congenital, Davignon-Chauveau type | 4 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | 5 |
| Muscular Dystrophy, Congenital, LMNA-Related | 11 |
| Muscular Dystrophy, Congenital, Megaconial Type | 8 |
| Muscular dystrophy, congenital, with cataracts and intellectual disability | 4 |
| Muscular dystrophy, congenital, with or without seizures | 2 |
| Muscular Dystrophy, Limb Girdle, Type 2C | 8 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 |
| Muscular dystrophy, limb-girdle, autosomal recessive 21 | 2 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 5 |
| Muscular dystrophy, limb-girdle, autosomal recessive 26 | 1 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 1 |
| Muscular dystrophy, limb-girdle, autosomal recessive 28 | 1 |
| Muscular Dystrophy, Limb-Girdle, Type 1C | 5 |
| Muscular Dystrophy, Limb-Girdle, Type 1G | 3 |
| Muscular Dystrophy, Limb-Girdle, Type 2J | 6 |
| Muscular Dystrophy, Limb-Girdle, Type 2L | 8 |
| Muscular Dystrophy, Limb-Girdle, Type 2Q | 8 |
| Muscular dystrophy, limb-girdle, type 2R | 2 |
| Muscular dystrophy, limb-girdle, type 2S | 8 |
| Muscular Dystrophy, Limb-Girdle, Type 2W | 4 |
| Muscular dystrophy, limb-girdle, type 2X | 2 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 10; MDDGA10 | 9 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | 13 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | 11 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 | 11 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 | 13 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 | 15 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 15 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 | 5 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | 10 |
| Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | 2 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 | 12 |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 | 10 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2 | 10 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 | 13 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6 | 11 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 | 14 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 | 5 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 | 11 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 | 7 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | 11 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 | 10 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 | 12 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 | 12 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 | 12 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 | 7 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 | 8 |
| Myasthenia, Limb-Girdle, Familial | 5 |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 3 |
| Myasthenic syndrome, congenital, 14, with tubular aggregates | 7 |
| Myasthenic Syndrome, Congenital, 15, without Tubular Aggregates | 5 |
| Myasthenic Syndrome, Congenital, 17 | 4 |
| Myasthenic Syndrome, Congenital, 18 | 5 |
| Myasthenic Syndrome, Congenital, 19 | 4 |
| Myasthenic syndrome, congenital, 20, presynaptic | 6 |
| Myasthenic syndrome, congenital, 21, presynaptic | 4 |
| Myasthenic syndrome, congenital, 22 | 3 |
| Myasthenic syndrome, congenital, 23, presynaptic | 6 |
| Myasthenic syndrome, congenital, 24, presynaptic | 3 |
| Myasthenic syndrome, congenital, 25 | 4 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel | 4 |
| Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | 3 |
| Myasthenic syndrome, congenital, 3A, slow-channel | 3 |
| Myasthenic syndrome, congenital, 3B, fast-channel | 4 |
| Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | 3 |
| Myasthenic syndrome, congenital, 4A, slow-channel | 4 |
| Myasthenic syndrome, congenital, 4B, fast-channel | 4 |
| Myasthenic Syndrome, Congenital, 7, Presynaptic | 6 |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 1 |
| Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects | 3 |
| Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency | 3 |
| Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency | 7 |
| Myasthenic Syndrome, Congenital, Fast-Channel | 7 |
| Myasthenic Syndrome, Congenital, Slow-Channel | 8 |
| Myasthenic syndrome, congenital, with tubular aggregates 2 | 7 |
| Mycobacterial And Viral Infections, Susceptibility To, Autosomal Recessive | 5 |
| Mycobacterium Tuberculosis, Susceptibility To | 3 |
| Myd88 Deficiency | 2 |
| Myelodysplastic Syndrome | 12 |
| Myelofibrosis | 4 |
| Myeloperoxidase Deficiency | 2 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia | 5 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to | 6 |
| Myh-Associated Polyposis | 8 |
| Myhre Syndrome | 10 |
| Myocardial Infarction 1 | 8 |
| Myoclonic Dystonia | 6 |
| Myoclonic epilepsy of Lafora 2 | 2 |
| Myoclonic Epilepsy, Familial Infantile | 10 |
| Myoclonic-Atonic Epilepsy | 8 |
| Myoclonus, familial, 1 | 1 |
| Myoclonus, familial, 2 | 6 |
| Myoclonus, Intractable, Neonatal | 5 |
| Myofibrillar myopathy 11 | 1 |
| Myofibrillar Myopathy, BAG3-Related | 10 |
| Myofibrillar Myopathy, Desmin-Related | 6 |
| Myofibrillar Myopathy, Filamin C-Related | 6 |
| Myofibrillar Myopathy, ZASP-Related | 9 |
| Myofibromatosis, Infantile, 1 | 7 |
| Myofibromatosis, Infantile, 2 | 5 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive | 8 |
| Myopathy due to Myoadenylate Deaminase Deficiency | 3 |
| Myopathy with Extrapyramidal Signs | 6 |
| Myopathy With Lactic Acidosis, Hereditary | 5 |
| Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | 2 |
| Myopathy, Centronuclear | 4 |
| Myopathy, Centronuclear, 1 | 6 |
| Myopathy, Centronuclear, 3 | 1 |
| Myopathy, congenital proximal, with minicore lesions | 1 |
| Myopathy, congenital with structured cores and Z-line abnormalities | 2 |
| Myopathy, Congenital, Compton-North | 5 |
| Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | 3 |
| Myopathy, congenital, with respiratory insufficiency and bone fractures | 1 |
| Myopathy, congenital, with tremor | 2 |
| Myopathy, Distal, 1 | 6 |
| Myopathy, Distal, 2 | 7 |
| Myopathy, Distal, 4 | 6 |
| Myopathy, distal, 5 | 3 |
| Myopathy, distal, 6, adult onset | 2 |
| Myopathy, distal, 7, adult-onset, X-linked | 1 |
| Myopathy, Distal, Tateyama Type | 4 |
| Myopathy, Distal, With Anterior Tibial Onset | 5 |
| Myopathy, distal, with rimmed vacuoles | 5 |
| Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia | 5 |
| Myopathy, Early-Onset, With Fatal Cardiomyopathy | 4 |
| Myopathy, epilepsy, and progressive cerebral atrophy | 3 |
| Myopathy, isolated mitochondrial, autosomal dominant | 4 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | 4 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay | 5 |
| Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 1 |
| Myopathy, myofibrillar, 7 | 3 |
| Myopathy, myofibrillar, 8 | 3 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related | 6 |
| Myopathy, Myosin Storage | 5 |
| Myopathy, Myosin Storage, Autosomal Recessive | 4 |
| Myopathy, Reducing Body, X-Linked, Childhood-Onset | 4 |
| Myopathy, Reducing Body, X-Linked, Early-Onset, Severe | 4 |
| Myopathy, sarcoplasmic body | 1 |
| Myopathy, scapulohumeroperoneal | 1 |
| Myopathy, tubular aggregate | 8 |
| Myopathy, tubular aggregate, 2 | 2 |
| Myopathy, vacuolar, with CASQ1 aggregates | 2 |
| Myopathy, X-linked, with excessive autophagy | 4 |
| Myopathy, X-Linked, With Postural Muscle Atrophy | 5 |
| Myopia 21, Autosomal Dominant | 1 |
| Myopia 22, autosomal dominant | 1 |
| Myopia 23, autosomal recessive | 1 |
| Myopia 24, autosomal dominant | 1 |
| Myopia 25, autosomal dominant | 1 |
| Myopia 26, X-linked, female-limited | 1 |
| Myopia 27 | 1 |
| Myopia 6 | 9 |
| Myopia, High, with Cataract And Vitreoretinal Degeneration | 6 |
| Myosclerosis, Autosomal Recessive | 3 |
| Myotilinopathy | 5 |
| Myotonia Congenita Autosomal Recessive | 3 |
| N-Acetylaspartate Deficiency | 3 |
| Nabais Sa-de Vries syndrome, type 1 | 1 |
| Nabais Sa-de Vries syndrome, type 2 | 1 |
| Naegeli-Franceschetti-Jadassohn Syndrome | 2 |
| Nail Disorder, Nonsyndromic Congenital, 8 | 5 |
| Nail-Patella Syndrome | 8 |
| Nance-Horan Syndrome | 10 |
| Nanophthalmos 2 | 5 |
| Nanophthalmos 4 | 2 |
| Nasopharyngeal Carcinoma | 2 |
| Native American myopathy | 6 |
| Navajo Neurohepatopathy | 10 |
| Naxos Disease | 6 |
| Nemaline Myopathy 1 | 5 |
| Nemaline Myopathy 10 | 4 |
| Nemaline myopathy 11, autosomal recessive | 5 |
| Nemaline Myopathy 2 | 9 |
| Nemaline Myopathy 3 | 6 |
| Nemaline Myopathy 4 | 6 |
| Nemaline Myopathy 5 | 5 |
| Nemaline Myopathy 6 | 5 |
| Nemaline Myopathy 7 | 5 |
| Nemaline Myopathy 8 | 7 |
| Nemaline Myopathy 9 | 5 |
| Neoplasm Of Ovary | 15 |
| Neoplasm Of Stomach | 13 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis | 5 |
| Nephrolithiasis, Calcium Oxalate | 3 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 | 7 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 | 5 |
| Nephronophthisis | 13 |
| Nephronophthisis 11 | 11 |
| Nephronophthisis 12 | 11 |
| Nephronophthisis 13 | 8 |
| Nephronophthisis 14 | 11 |
| Nephronophthisis 15 | 14 |
| Nephronophthisis 16 | 8 |
| Nephronophthisis 18 | 6 |
| Nephronophthisis 19 | 7 |
| Nephronophthisis 20 | 2 |
| Nephronophthisis 4 | 9 |
| Nephronophthisis 7 | 7 |
| Nephronophthisis 9 | 10 |
| Nephronophthisis-Like Nephropathy 1 | 7 |
| Nephropathy With Pretibial Epidermolysis Bullosa And Deafness | 1 |
| Nephrotic Syndrome, Idiopathic, Steroid-Resistant | 3 |
| Nephrotic Syndrome, Type 10 | 3 |
| Nephrotic Syndrome, Type 11 | 6 |
| Nephrotic Syndrome, Type 12 | 3 |
| Nephrotic Syndrome, Type 13 | 3 |
| Nephrotic Syndrome, Type 14 | 5 |
| Nephrotic Syndrome, Type 15 | 4 |
| Nephrotic syndrome, type 16 | 1 |
| Nephrotic syndrome, type 17 | 1 |
| Nephrotic syndrome, type 18 | 3 |
| Nephrotic syndrome, type 19 | 2 |
| Nephrotic syndrome, type 20 | 2 |
| Nephrotic syndrome, type 21 | 3 |
| Nephrotic Syndrome, Type 3 | 5 |
| Nephrotic syndrome, type 4 | 10 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities | 8 |
| Nephrotic Syndrome, Type 6 | 2 |
| Nephrotic Syndrome, Type 7 | 8 |
| Nephrotic Syndrome, Type 8 | 2 |
| Nephrotic syndrome, type 9 | 6 |
| Nestor-Guillermo Progeria Syndrome | 1 |
| Netherton Syndrome | 6 |
| Neu-Laxova syndrome 1 | 10 |
| Neu-Laxova syndrome 2 | 7 |
| Neural Tube Defects | 2 |
| Neural Tube Defects, Folate-Sensitive | 9 |
| Neuroblastoma 1 | 8 |
| Neuroblastoma 2 | 5 |
| Neuroblastoma 3 | 5 |
| Neurocutaneous melanosis, somatic | 7 |
| Neurodegeneration and seizures due to copper transport defect | 1 |
| Neurodegeneration with ataxia and late-onset optic atrophy | 5 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 4 |
| Neurodegeneration With Brain Iron Accumulation 1 | 6 |
| Neurodegeneration With Brain Iron Accumulation 2B | 6 |
| Neurodegeneration With Brain Iron Accumulation 4 | 7 |
| Neurodegeneration With Brain Iron Accumulation 5 | 12 |
| Neurodegeneration With Brain Iron Accumulation 6 | 5 |
| Neurodegeneration with brain iron accumulation 7 | 1 |
| Neurodegeneration with brain iron accumulation 8 | 2 |
| Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | 1 |
| Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities | 1 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 4 |
| Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | 3 |
| Neurodegeneration, childhood-onset, with brain atrophy | 4 |
| Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | 1 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 3 |
| Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | 3 |
| Neurodegeneration, childhood-onset, with progressive microcephaly | 1 |
| Neurodegeneration, infantile-onset, biotin-responsive | 3 |
| Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 3 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 3 |
| Neurodevelopmental disorder plus optic atrophy | 2 |
| Neurodevelopmental disorder with absent language and variable seizures | 2 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 3 |
| Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly | 1 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 2 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 1 |
| Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 2 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 2 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 1 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 5 |
| Neurodevelopmental disorder with cerebellar hypoplasia and spasticity | 1 |
| Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 2 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 5 |
| Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | 1 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 3 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 2 |
| Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | 1 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia | 1 |
| Neurodevelopmental disorder with dystonia and seizures | 1 |
| Neurodevelopmental disorder with epilepsy and brain atrophy | 1 |
| Neurodevelopmental disorder with epilepsy and hemochromatosis | 3 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 2 |
| Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination | 3 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 4 |
| Neurodevelopmental disorder with eye movement abnormalities and ataxia | 2 |
| Neurodevelopmental disorder with hearing loss and spasticity | 2 |
| Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | 2 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 2 |
| Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | 3 |
| Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities | 1 |
| Neurodevelopmental disorder with hypotonia and gross motor and speech delay | 1 |
| Neurodevelopmental disorder with hypotonia and seizures | 1 |
| Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | 1 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 1 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | 1 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 3 |
| Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | 3 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 4 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 5 |
| Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language | 3 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 2 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 1 |
| Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies | 1 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 3 |
| Neurodevelopmental disorder with infantile epileptic spasms | 2 |
| Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | 2 |
| Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | 1 |
| Neurodevelopmental Disorder with Involuntary Movements | 7 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 |
| Neurodevelopmental disorder with language delay and seizures | 2 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 3 |
| Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | 1 |
| Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | 1 |
| Neurodevelopmental disorder with microcephaly, ataxia, and seizures | 2 |
| Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 1 |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 4 |
| Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy | 3 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | 4 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 |
| Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | 1 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive | 3 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant | 3 |
| Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | 1 |
| Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | 1 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 |
| Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | 1 |
| Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism | 1 |
| Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities | 1 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 2 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 3 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 5 |
| Neurodevelopmental disorder with or without autism or seizures | 1 |
| Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 2 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 6 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 3 |
| Neurodevelopmental disorder with or without variable brain abnormalities | 3 |
| Neurodevelopmental disorder with poor growth and skeletal anomalies | 2 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 4 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 5 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 2 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 6 |
| Neurodevelopmental disorder with seizures and brain abnormalities | 2 |
| Neurodevelopmental disorder with seizures and brain atrophy | 1 |
| Neurodevelopmental disorder with seizures and gingival overgrowth | 1 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 3 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 3 |
| Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities | 1 |
| Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | 1 |
| Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | 1 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 2 |
| Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | 1 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 1 |
| Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | 1 |
| Neurodevelopmental disorder with spasticity and poor growth | 2 |
| Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | 1 |
| Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities | 1 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 4 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 6 |
| Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities | 3 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 5 |
| Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | 8 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 2 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 2 |
| Neuroferritinopathy | 6 |
| Neurofibromatosis, Familial Spinal | 19 |
| Neurofibromatosis, Type 1 | 26 |
| Neurofibromatosis, Type 2 | 5 |
| Neurofibromatosis-Noonan Syndrome | 21 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 1 |
| Neuromyotonia and axonal neuropathy, autosomal recessive | 4 |
| Neuronopathy, Distal Hereditary Motor, Type VIIB | 9 |
| Neuronopathy, distal hereditary motor, autosomal dominant 10 | 1 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 2 |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | 3 |
| Neuronopathy, distal hereditary motor, autosomal recessive 6 | 1 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 2 |
| Neuronopathy, distal hereditary motor, autosomal recessive 9 | 1 |
| Neuronopathy, Distal Hereditary Motor, Type IIC | 2 |
| Neuronopathy, Distal Hereditary Motor, Type IID | 4 |
| Neuronopathy, distal hereditary motor, type IX | 2 |
| Neuronopathy, Distal Hereditary Motor, Type VB | 6 |
| Neuronopathy, Distal Hereditary Motor, Type VIIA | 9 |
| Neurooculocardiogenitourinary syndrome | 8 |
| Neuropathy, distal hereditary motor, type VC | 5 |
| Neuropathy, Hereditary Motor and Sensory, Okinawa Type | 7 |
| Neuropathy, Hereditary Motor and Sensory, Russe Type | 5 |
| Neuropathy, Hereditary Motor and Sensory, Type VIA | 13 |
| Neuropathy, Hereditary Motor and Sensory, Type VIB | 9 |
| Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | 3 |
| Neuropathy, Hereditary Sensory And Autonomic, Type 1A | 7 |
| Neuropathy, Hereditary Sensory And Autonomic, Type IC | 7 |
| Neuropathy, Hereditary Sensory And Autonomic, Type IIA | 7 |
| Neuropathy, Hereditary Sensory And Autonomic, Type IIB | 3 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V | 4 |
| Neuropathy, Hereditary Sensory and Autonomic, Type VI | 5 |
| Neuropathy, Hereditary Sensory and Autonomic, Type VII | 4 |
| Neuropathy, Hereditary Sensory and Autonomic, Type VIII | 4 |
| Neuropathy, Hereditary Sensory, Type ID | 5 |
| Neuropathy, Hereditary Sensory, Type IE | 8 |
| Neuropathy, Hereditary Sensory, Type IF | 4 |
| Neuropathy, Hereditary Sensory, Type IIC | 10 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia | 6 |
| Neuropathy, Hereditary, with or without Age-Related Macular Degeneration | 9 |
| Neuropathy, inflammatory demyelinating | 1 |
| Neutral Lipid Storage Disease With Myopathy | 7 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults | 6 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant | 6 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive | 7 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive | 6 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive | 5 |
| Neutropenia, severe congenital, 7, autosomal recessive | 4 |
| Neutropenia, severe congenital, 8, autosomal dominant | 5 |
| Neutropenia, severe congenital, 9, autosomal dominant | 2 |
| Neutrophil Immunodeficiency Syndrome | 4 |
| Neutrophilic dermatosis, acute febrile | 1 |
| Nevus comedonicus, somatic | 3 |
| Newfoundland Rod-Cone Dystrophy | 5 |
| Nicolaides-Baraitser Syndrome | 7 |
| Niemann-Pick Disease Type C1 | 9 |
| Niemann-Pick Disease Type C2 | 9 |
| Niemann-Pick Disease, Type A | 13 |
| Niemann-Pick Disease, Type B | 14 |
| Night Blindness, Congenital Stationary, Nougaret Type | 4 |
| Night Blindness, Congenital Stationary, Rambusch Type | 8 |
| Night Blindness, Congenital Stationary, Rhodopsin-Related | 6 |
| Night Blindness, Congenital Stationary, Type 1A | 5 |
| Night Blindness, Congenital Stationary, Type 1B | 5 |
| Night Blindness, Congenital Stationary, Type 1C | 4 |
| Night Blindness, Congenital Stationary, Type 1D | 6 |
| Night Blindness, Congenital Stationary, Type 1E | 4 |
| Night Blindness, Congenital Stationary, Type 1F | 5 |
| Night Blindness, Congenital Stationary, Type 1G | 4 |
| Night blindness, congenital stationary, type 1H | 3 |
| Night blindness, congenital stationary, type 1I | 2 |
| Night Blindness, Congenital Stationary, Type 2A | 7 |
| Night Blindness, Congenital Stationary, Type 2B | 7 |
| Nijmegen Breakage Syndrome | 12 |
| Nijmegen Breakage Syndrome-Like Disorder | 8 |
| Nizon-Isidor syndrome | 2 |
| Non-Herlitz Junctional Epidermolysis Bullosa | 11 |
| Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To | 3 |
| Noonan Syndrome 1 | 17 |
| Noonan Syndrome 10 | 8 |
| Noonan syndrome 11 | 5 |
| Noonan syndrome 12 | 2 |
| Noonan syndrome 13 | 2 |
| Noonan syndrome 2 | 7 |
| Noonan Syndrome 3 | 12 |
| Noonan Syndrome 4 | 12 |
| Noonan Syndrome 5 | 9 |
| Noonan Syndrome 6 | 13 |
| Noonan Syndrome 7 | 11 |
| Noonan Syndrome 8 | 9 |
| Noonan Syndrome 9 | 7 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 9 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia | 12 |
| Noonan-Like Syndrome With Loose Anagen Hair | 9 |
| Norrie Disease | 11 |
| Norum Disease | 5 |
| Nystagmus 6, Congenital, X-Linked | 5 |
| O'Donnell-Luria-Rodan syndrome | 4 |
| Obesity | 14 |
| Obesity | 1 |
| Obesity, Hyperphagia, And Developmental Delay | 5 |
| Obesity, Morbid, Due to Leptin Deficiency | 8 |
| Obesity, Morbid, Due to Leptin Receptor Deficiency | 8 |
| Obesity, susceptibility to, BMIQ14 | 2 |
| Obesity, susceptibility to, BMIQ18 | 1 |
| Obesity, susceptibility to, BMIQ19 | 1 |
| Occipital Horn Syndrome | 19 |
| Occult Macular Dystrophy | 4 |
| Ocular Albinism, Type I | 5 |
| Oculoauricular Syndrome | 4 |
| Oculocutaneous Albinism Type 1A | 6 |
| Oculocutaneous Albinism Type 1B | 6 |
| Oculocutaneous Albinism Type 3 | 4 |
| Oculocutaneous Albinism Type IV | 4 |
| Oculocutaneous albinism, type VIII | 1 |
| Oculodentodigital Dysplasia | 16 |
| Oculodentodigital Dysplasia, Autosomal Recessive | 14 |
| Oculoectodermal syndrome, somatic | 9 |
| Oculofaciocardiodental Syndrome | 18 |
| Oculomaxillofacial Dysostosis | 5 |
| Oculopharyngeal Muscular Dystrophy | 2 |
| Oculoskeletodental syndrome | 1 |
| Odontoonychodermal Dysplasia | 2 |
| Ogden Syndrome | 10 |
| Oguchi Disease 2 | 4 |
| Oguchi's Disease | 4 |
| OHDO Syndrome, X-linked; OHDOX | 14 |
| Okur-Chung neurodevelopmental syndrome | 2 |
| Oligodontia-Colorectal Cancer Syndrome | 6 |
| Oliver-McFarlane syndrome | 4 |
| Olmsted syndrome, X-linked | 5 |
| Omenn Syndrome | 9 |
| Omodysplasia 1 | 3 |
| Omodysplasia 2 | 2 |
| Ondontochondrodysplasia 2 with hearing loss and diabetes | 1 |
| Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | 2 |
| Oocyte Maturation Defect | 3 |
| Oocyte/zygote/embryo maturation arrest 17 | 1 |
| Oocyte/zygote/embryo maturation arrest 9 | 1 |
| Ophthalmoplegia, external, with rib and vertebral anomalies | 1 |
| Opitz G/BBB Syndrome, Type I | 13 |
| Opitz GBBB syndrome, type II | 9 |
| Opsismodysplasia | 4 |
| Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures | 7 |
| Optic atrophy 11 | 4 |
| Optic atrophy 12 | 5 |
| Optic atrophy 13 with retinal and foveal abnormalities | 3 |
| Optic atrophy 14 | 2 |
| Optic atrophy 15 | 2 |
| Optic atrophy 16 | 1 |
| Optic atrophy 5 | 9 |
| Optic Atrophy 7 | 6 |
| Optic atrophy 9 | 8 |
| Optic Atrophy And Cataract, Autosomal Dominant | 11 |
| Optic Atrophy Type 1 | 13 |
| Optic Disc Anomalies with Retinal and/or Macular Dystrophy | 6 |
| Optic Nerve Hypoplasia, Bilateral | 11 |
| Oral-Facial-Digital Syndrome | 18 |
| Ornithine Carbamoyltransferase Deficiency | 10 |
| Orofacial Cleft 10 | 1 |
| Orofacial Cleft 11 | 12 |
| Orofacial cleft 15 | 1 |
| Orofacial Cleft 5 | 4 |
| Orofacial Cleft 6, Susceptibility To | 6 |
| Orofacial cleft 8 | 8 |
| Orofaciodigital Syndrome IV | 11 |
| Orofaciodigital Syndrome V | 3 |
| Orofaciodigital syndrome VI | 10 |
| Orofaciodigital Syndrome XIV | 6 |
| Orofaciodigital syndrome XV | 2 |
| Orofaciodigital Syndrome XVI | 8 |
| Orofaciodigital syndrome XVII | 6 |
| Orofaciodigital syndrome XVIII | 1 |
| Orotic Aciduria | 3 |
| Orthostatic hypotension 2 | 2 |
| Orthostatic Intolerance | 1 |
| Osler Hemorrhagic Telangiectasia Syndrome | 7 |
| Osteitis Deformans | 9 |
| Osteoarthritis Of Distal Interphalangeal Joint | 3 |
| Osteoarthritis Of Hip | 4 |
| Osteoarthritis With Mild Chondrodysplasia | 14 |
| Osteochondritis Dissecans | 2 |
| Osteochondrodysplasia | 3 |
| Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | 5 |
| Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | 7 |
| Osteodysplastic Primordial Dwarfism, Type 1 | 4 |
| Osteofibrous dysplasia, susceptibility to | 1 |
| Osteogenesis imperfecta 21 | 2 |
| Osteogenesis Imperfecta Type III | 11 |
| Osteogenesis Imperfecta, Type I | 11 |
| Osteogenesis Imperfecta, Type II | 11 |
| Osteogenesis Imperfecta, Type IV | 11 |
| Osteogenesis Imperfecta, Type IX | 5 |
| Osteogenesis imperfecta, type V | 7 |
| Osteogenesis Imperfecta, Type VI | 8 |
| Osteogenesis Imperfecta, Type VII | 8 |
| Osteogenesis Imperfecta, Type VIII | 8 |
| Osteogenesis Imperfecta, Type X | 7 |
| Osteogenesis Imperfecta, Type XI | 7 |
| Osteogenesis Imperfecta, Type XII | 6 |
| Osteogenesis Imperfecta, Type XIII | 7 |
| Osteogenesis Imperfecta, Type XIV | 6 |
| Osteogenesis imperfecta, type XIX | 4 |
| Osteogenesis Imperfecta, Type XV | 7 |
| Osteogenesis imperfecta, type XVI | 1 |
| Osteogenesis Imperfecta, Type XVII | 8 |
| Osteogenesis imperfecta, type XVIII | 6 |
| Osteogenesis imperfecta, type XX | 2 |
| Osteoglophonic Dysplasia | 15 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis | 2 |
| Osteootohepatoenteric syndrome | 1 |
| Osteopathia Striata With Cranial Sclerosis | 6 |
| Osteopetrosis Autosomal Dominant Type 1 | 9 |
| Osteopetrosis Autosomal Dominant Type 2 | 6 |
| Osteopetrosis Autosomal Recessive 1 | 7 |
| Osteopetrosis Autosomal Recessive 2 | 5 |
| Osteopetrosis Autosomal Recessive 4 | 6 |
| Osteopetrosis Autosomal Recessive 5 | 5 |
| Osteopetrosis Autosomal Recessive 7 | 9 |
| Osteopetrosis With Renal Tubular Acidosis | 8 |
| Osteopetrosis, Autosomal Recessive 8 | 5 |
| Osteoporosis | 13 |
| Osteoporosis With Pseudoglioma | 5 |
| Osteoporosis, early-onset, susceptibility to, autosomal dominant | 3 |
| Osteosarcoma | 4 |
| Otitis media, susceptibility to | 3 |
| Oto-Palato-Digital Syndrome Type 1 | 18 |
| Oto-Palato-Digital Syndrome, Type II | 19 |
| Otofaciocervical Syndrome | 7 |
| Otofaciocervical syndrome 2 | 3 |
| Otosclerosis 12 | 1 |
| Otospondylomegaepiphyseal Dysplasia | 12 |
| Ovalocytosis | 1 |
| Ovalocytosis, SA type | 3 |
| Ovarian Dysgenesis 1 | 6 |
| Ovarian Dysgenesis 2 | 6 |
| Ovarian Dysgenesis 3 | 5 |
| Ovarian Dysgenesis 4 | 5 |
| Ovarian Dysgenesis 5 | 2 |
| Ovarian dysgenesis 6 | 1 |
| Ovarian dysgenesis 7 | 4 |
| Ovarian dysgenesis 8 | 1 |
| Ovarian Hyperstimulation Syndrome | 4 |
| P Phenotype | 1 |
| Pachydermoperiostosis | 4 |
| Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 3 |
| Paganini-Miozzo syndrome | 2 |
| Paget Disease of Bone 3 | 7 |
| Pallister-Hall Syndrome | 18 |
| Palmoplantar carcinoma, multiple self-healing | 2 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,XX Sex Reversal | 5 |
| Palmoplantar Keratoderma and Woolly Hair | 3 |
| Palmoplantar keratoderma with congenital alopecia | 9 |
| Palmoplantar Keratoderma, Epidermolytic | 5 |
| Palmoplantar Keratoderma, Nonepidermolytic | 3 |
| Pancreatic agenesis 2 | 6 |
| Pancreatic agenesis and congenital heart defects | 7 |
| Pancreatic Agenesis, Congenital | 6 |
| Pancreatic Cancer | 14 |
| Pancreatic Cancer 1 | 2 |
| Pancreatic Cancer 2 | 15 |
| Pancreatic Cancer 3 | 13 |
| Pancreatic Cancer 4 | 14 |
| Pancreatic Lipase Deficiency | 1 |
| Pancreatitis, Chronic | 11 |
| Panhypopituitarism X-Linked | 10 |
| Papillon-Lefevre Syndrome | 7 |
| Papillorenal Syndrome | 10 |
| Paraganglioma And Gastric Stromal Sarcoma | 11 |
| Paragangliomas 1 | 9 |
| Paragangliomas 2 | 5 |
| Paragangliomas 3 | 8 |
| Paragangliomas 4 | 11 |
| Paragangliomas 5 | 14 |
| Paragangliomas 6 | 1 |
| Paragangliomas 7 | 4 |
| Paramyotonia Congenita Of Von Eulenburg | 4 |
| Parastremmatic Dwarfism | 5 |
| Parathyroid Carcinoma | 6 |
| Parenti-Mignot neurodevelopmental syndrome | 2 |
| Parietal Foramina | 5 |
| Parietal Foramina 2 | 4 |
| Parietal Foramina With Cleidocranial Dysplasia | 5 |
| Parkinson Disease 1 | 6 |
| Parkinson Disease 11 | 3 |
| Parkinson Disease 13 | 10 |
| Parkinson Disease 14 | 6 |
| Parkinson Disease 15 | 4 |
| Parkinson Disease 17 | 3 |
| Parkinson Disease 18 | 3 |
| Parkinson Disease 19 | 6 |
| Parkinson Disease 2 | 6 |
| Parkinson Disease 20 | 8 |
| Parkinson disease 22, autosomal dominant | 3 |
| Parkinson disease 23, autosomal recessive, early onset | 4 |
| Parkinson Disease 4 | 6 |
| Parkinson Disease 5 | 5 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset | 6 |
| Parkinson Disease 7 | 4 |
| Parkinson Disease 8 | 6 |
| Parkinson's Disease | 9 |
| Parkinson-Dementia Syndrome | 4 |
| Parkinsonism with Spasticity, X-Linked | 7 |
| Parkinsonism-dystonia 3, childhood-onset | 1 |
| Parkinsonism-dystonia, infantile, 2 | 4 |
| Paroxysmal Choreoathetosis | 6 |
| Paroxysmal Extreme Pain Disorder | 5 |
| Paroxysmal Familial Ventricular Fibrillation | 2 |
| Paroxysmal Nocturnal Hemoglobinuria | 14 |
| Paroxysmal nocturnal hemoglobinuria 2 | 5 |
| Partial Albinism | 8 |
| Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome | 8 |
| Partington X-Linked Mental Retardation Syndrome | 12 |
| Patent ductus arteriosus 2 | 5 |
| Patent ductus arteriosus 3 | 2 |
| Patterned Dystrophy Of Retinal Pigment Epithelium | 7 |
| Peeling Skin Syndrome, Acral Type | 3 |
| PEHO syndrome | 4 |
| PEHO syndrome-like | 1 |
| Pelger-Huet Anomaly | 8 |
| Pelger-Huet anomaly with mild skeletal anomalies | 7 |
| Pelizaeus-Merzbacher Disease | 9 |
| Pendred Syndrome | 4 |
| Periodic fever, immunodeficiency, and thrombocytopenia syndrome | 3 |
| Periodic fever, menstrual cycle dependent | 3 |
| Periodontitis, Aggressive, 1 | 5 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease | 14 |
| Peripheral motor neuropathy, childhood-onset, biotin-responsive | 1 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 3 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss | 4 |
| Periventricular nodular heterotopia 6 | 2 |
| Periventricular Nodular Heterotopia 7 | 10 |
| Periventricular nodular heterotopia 8 | 3 |
| Periventricular nodular heterotopia 9 | 5 |
| Perlman Syndrome | 9 |
| Permanent Neonatal Diabetes Mellitus | 6 |
| Peroxisomal Acyl-CoA Oxidase Deficiency | 8 |
| Peroxisomal fatty acyl-CoA reductase 1 disorder | 5 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 15 |
| Peroxisome biogenesis disorder 10B | 11 |
| Peroxisome biogenesis disorder 11A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 11B | 13 |
| Peroxisome biogenesis disorder 12A (Zellweger) | 13 |
| Peroxisome biogenesis disorder 13A (Zellweger) | 13 |
| Peroxisome Biogenesis Disorder 14B | 13 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 19 |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | 16 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 15 |
| Peroxisome biogenesis disorder 2B | 14 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 3B | 13 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 4B | 15 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 5B | 13 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 6B | 15 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 7B | 13 |
| Peroxisome biogenesis disorder 8A, (Zellweger) | 13 |
| Peroxisome biogenesis disorder 8B | 14 |
| Peroxisome Biogenesis Disorder 9B | 13 |
| Perrault Syndrome | 11 |
| Perrault Syndrome 2 | 5 |
| Perrault Syndrome 3 | 9 |
| Perrault Syndrome 4 | 5 |
| Perrault Syndrome 5 | 13 |
| Perrault syndrome 6 | 3 |
| Perry Syndrome | 9 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | 6 |
| Persistent Mullerian Duct Syndrome | 4 |
| Peters Anomaly | 11 |
| Peters Plus Syndrome | 12 |
| Pettigrew Syndrome | 7 |
| Peutz-Jeghers Syndrome | 12 |
| Pfeiffer Syndrome | 21 |
| Phelan-Mcdermid Syndrome | 6 |
| Phenylketonuria | 5 |
| Pheochromocytoma | 20 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic | 6 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial | 4 |
| Phosphoglycerate Dehydrogenase Deficiency | 9 |
| Phosphoglycerate Kinase 1 Deficiency | 14 |
| Phosphoribosylpyrophosphate Synthetase Superactivity | 7 |
| Phosphoserine Aminotransferase Deficiency | 7 |
| Phosphoserine Phosphatase Deficiency | 3 |
| Pick's Disease | 6 |
| Pierpont syndrome | 4 |
| Pierson Syndrome | 7 |
| Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-linked | 4 |
| Pigmentary Retinal Dystrophy | 15 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 | 6 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 | 1 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 | 1 |
| Pigmented Paravenous Chorioretinal Atrophy | 5 |
| Pilarowski-Bjornsson syndrome | 1 |
| Pilomatrixoma | 7 |
| Pineal Hyperplasia And Diabetes Mellitus Syndrome | 6 |
| Pitt-Hopkins Syndrome | 10 |
| Pitt-Hopkins-like syndrome 2 | 8 |
| Pituitary adenoma 3, multiple types, somatic | 3 |
| Pituitary adenoma 5, multiple types | 2 |
| Pituitary Adenoma, Growth Hormone-Secreting | 2 |
| Pituitary Dependent Hypercortisolism | 1 |
| Pituitary Hormone Deficiency, Combined 1 | 2 |
| Pituitary Hormone Deficiency, Combined 2 | 11 |
| Pituitary Hormone Deficiency, Combined 3 | 7 |
| Pituitary Hormone Deficiency, Combined 4 | 10 |
| Pituitary Hormone Deficiency, Combined, 6 | 7 |
| Pityriasis rubra pilaris | 5 |
| Plasminogen Activator Inhibitor Type 1 Deficiency | 2 |
| Plasminogen Deficiency, Type I | 2 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 6 |
| Platelet Glycoprotein IV Deficiency | 3 |
| Platyspondylic Lethal Skeletal Dysplasia Torrance Type | 14 |
| Pleuropulmonary Blastoma | 11 |
| Pneumothorax, Primary Spontaneous | 2 |
| Poikiloderma With Neutropenia | 6 |
| Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis | 1 |
| Poirier-Bienvenu neurodevelopmental syndrome | 3 |
| Polyagglutinable Erythrocyte Syndrome | 1 |
| Polyarteritis nodosa, childhood-onset | 6 |
| Polycyctic Kidney Disease 3 | 8 |
| Polycystic Kidney Disease 1 | 9 |
| Polycystic Kidney Disease 2 | 8 |
| Polycystic Kidney Disease 5 | 6 |
| Polycystic Kidney Disease 6 with or without Polycystic Liver Disease | 4 |
| Polycystic Kidney Disease, Infantile Type | 8 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy | 7 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 6 |
| Polycystic Liver Disease 2 | 2 |
| Polycystic liver disease 3 with or without kidney cysts | 9 |
| Polycystic Liver Disease 4 with or without Kidney Cysts | 6 |
| Polycythemia Vera | 4 |
| Polydactyly Preaxial Type 4 | 13 |
| Polydactyly, Postaxial, Type A1 | 13 |
| Polydactyly, postaxial, type A10 | 3 |
| Polydactyly, postaxial, type A6 | 3 |
| Polydactyly, postaxial, type A7 | 3 |
| Polydactyly, postaxial, type A8 | 4 |
| Polydactyly, postaxial, type A9 | 3 |
| Polydactyly, preaxial I | 3 |
| Polydactyly, Preaxial II | 6 |
| Polyendocrine-polyneuropathy syndrome | 4 |
| Polyglandular Autoimmune Syndrome, Type 1 | 10 |
| Polyglucosan body disease, adult form | 7 |
| Polyglucosan Body Myopathy 1 with or without Immunodeficiency | 7 |
| Polyglucosan Body Myopathy 2 | 5 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy | 3 |
| Polymicrogyria With Optic Nerve Hypoplasia | 5 |
| Polymicrogyria with or without vascular-type EDS | 7 |
| Polymicrogyria, Asymmetric | 8 |
| Polymicrogyria, Bilateral Frontoparietal | 8 |
| Polymicrogyria, bilateral perisylvian | 6 |
| Polymicrogyria, bilateral temporooccipital | 11 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 5 |
| Polymorphous Corneal Dystrophy | 4 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | 10 |
| Polyostotic Osteolytic Dysplasia, Hereditary Expansile | 9 |
| Pontocerebellar Hypoplasia Type 1 | 8 |
| Pontocerebellar Hypoplasia Type 10 | 6 |
| Pontocerebellar Hypoplasia Type 11 | 4 |
| Pontocerebellar Hypoplasia Type 1B | 9 |
| Pontocerebellar Hypoplasia Type 2A | 8 |
| Pontocerebellar Hypoplasia Type 2B | 7 |
| Pontocerebellar Hypoplasia Type 2C | 6 |
| Pontocerebellar Hypoplasia Type 2D | 7 |
| Pontocerebellar Hypoplasia Type 2E | 5 |
| Pontocerebellar Hypoplasia Type 2F | 6 |
| Pontocerebellar Hypoplasia Type 4 | 8 |
| Pontocerebellar Hypoplasia Type 5 | 8 |
| Pontocerebellar Hypoplasia Type 6 | 8 |
| Pontocerebellar Hypoplasia Type 7 | 6 |
| Pontocerebellar Hypoplasia Type 8 | 6 |
| Pontocerebellar Hypoplasia Type 9 | 7 |
| Pontocerebellar hypoplasia, type 12 | 3 |
| Pontocerebellar hypoplasia, type 13 | 2 |
| Pontocerebellar hypoplasia, type 14 | 1 |
| Pontocerebellar hypoplasia, type 16 | 1 |
| Pontocerebellar hypoplasia, type 1C | 2 |
| Pontocerebellar hypoplasia, type 1D | 3 |
| Pontocerebellar hypoplasia, type 1E | 5 |
| Pontocerebellar hypoplasia, type 3 | 3 |
| Popliteal Pterygium Syndrome | 9 |
| Popliteal pterygium syndrome 2, lethal type | 9 |
| Popliteal pterygium syndrome, Bartsocas-Papas type 2 | 3 |
| Porencephaly 1 | 17 |
| Porencephaly 2 | 12 |
| Poretti-Boltshauser Syndrome | 4 |
| Porokeratosis 1, multiple types | 1 |
| Porokeratosis 7, multiple types | 1 |
| Porokeratosis 9, multiple types | 1 |
| Porokeratosis, Disseminated Superficial Actinic 1 | 8 |
| Porphyria, Acute Hepatic | 4 |
| Porphyria, Congenital Erythropoietic | 5 |
| Portal hypertension, noncirrhotic | 6 |
| Posterior Column Ataxia With Retinitis Pigmentosa | 8 |
| Potassium Aggravated Myotonia | 5 |
| Potocki-Lupski syndrome | 1 |
| Prader-Willi Syndrome | 2 |
| Preaxial Deficiency, Postaxial Polydactyly And Hypospadias | 11 |
| Preeclampsia/Eclampsia 1 | 2 |
| Preimplantation Embryonic Lethality 2 | 2 |
| Premature aging syndrome, Penttinen type | 7 |
| Premature Chromatid Separation Trait | 6 |
| Premature Ovarian Failure | 4 |
| Premature Ovarian Failure 10 | 4 |
| Premature ovarian failure 11 | 5 |
| Premature Ovarian Failure 12 | 2 |
| Premature ovarian failure 15 | 9 |
| Premature ovarian failure 17 | 4 |
| Premature ovarian failure 18 | 1 |
| Premature Ovarian Failure 3 | 5 |
| Premature Ovarian Failure 5 | 3 |
| Premature Ovarian Failure 6 | 4 |
| Premature Ovarian Failure 7 | 5 |
| Premature Ovarian Failure 8 | 4 |
| Premature Ovarian Failure 9 | 4 |
| Preterm Premature Rupture Of The Membranes | 2 |
| Prieto syndrome | 1 |
| Primary Aldosteronism, Seizures, and Neurologic Abnormalities | 8 |
| Primary Autosomal Recessive Microcephaly 1 | 6 |
| Primary Autosomal Recessive Microcephaly 17 | 5 |
| Primary Autosomal Recessive Microcephaly 2 | 7 |
| Primary Autosomal Recessive Microcephaly 3 | 7 |
| Primary Autosomal Recessive Microcephaly 4 | 3 |
| Primary Autosomal Recessive Microcephaly 5 | 6 |
| Primary Autosomal Recessive Microcephaly 6 | 6 |
| Primary Autosomal Recessive Microcephaly 7 | 4 |
| Primary Autosomal Recessive Microcephaly 8 | 3 |
| Primary Autosomal Recessive Microcephaly 9 | 6 |
| Primary Erythromelalgia | 5 |
| Primary Hyperoxaluria, Type I | 6 |
| Primary Hyperoxaluria, Type II | 5 |
| Primary Hyperoxaluria, Type III | 5 |
| Primary Hypomagnesemia | 7 |
| Primary Macronodular Adrenal Hyperplasia | 2 |
| Primary Open Angle Glaucoma | 4 |
| Primary Open Angle Glaucoma Juvenile Onset 1 | 6 |
| Primrose Syndrome | 7 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions 1 | 14 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 2 | 9 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3 | 16 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4 | 14 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5 | 13 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 | 10 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Recessive | 15 |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2 | 8 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 15 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 8 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | 3 |
| Progressive Familial Heart Block Type 1A | 4 |
| Progressive Familial Heart Block Type 1B | 3 |
| Progressive Intrahepatic Cholestasis | 6 |
| Progressive Myoclonus Epilepsy With Ataxia | 1 |
| Progressive Osseous Heteroplasia | 7 |
| Progressive Sclerosing Poliodystrophy | 18 |
| Prolactinoma, Familial | 1 |
| Prolidase Deficiency | 3 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome | 5 |
| Prolonged Electroretinal Response Suppression | 5 |
| Proopiomelanocortin Deficiency | 4 |
| Properdin Deficiency, X-Linked | 2 |
| Propionic Acidemia | 14 |
| Proprotein Convertase 1/3 Deficiency | 12 |
| Prostate Cancer | 22 |
| Prostate Cancer/Brain Cancer Susceptibility | 1 |
| Proteasome-associated autoinflammatory syndrome 2 | 3 |
| Proteasome-associated autoinflammatory syndrome 3 and digenic forms | 5 |
| Proteasome-associated autoinflammatory syndrome 4 | 1 |
| Proteasome-associated autoinflammatory syndrome 6 | 2 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis | 4 |
| Proteus Syndrome | 2 |
| Prothrombin Deficiency, Congenital | 4 |
| Protoporphyria, erythropoietic, 2 | 1 |
| Protoporphyria, Erythropoietic, X-Linked | 7 |
| Proud Levine Carpenter Syndrome | 12 |
| Prune Belly Syndrome | 1 |
| Pseudo Von Willebrand Disease | 5 |
| Pseudo-Hurler Polydystrophy | 7 |
| Pseudo-TORCH Syndrome 1 | 5 |
| Pseudo-TORCH syndrome 2 | 6 |
| Pseudo-TORCH syndrome 3 | 2 |
| Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome | 5 |
| Pseudohyperkalemia, familial, 2, due to red cell leak | 2 |
| Pseudohypoaldosteronism Type 1 Autosomal Dominant | 6 |
| Pseudohypoaldosteronism Type 1 Autosomal Recessive | 8 |
| Pseudohypoaldosteronism, type IIB | 4 |
| Pseudohypoaldosteronism, type IIC | 7 |
| Pseudohypoaldosteronism, type IID | 4 |
| Pseudohypoaldosteronism, type IIE | 6 |
| Pseudohypoparathyroidism Type 1A | 8 |
| Pseudohypoparathyroidism Type 1B | 7 |
| Pseudohypoparathyroidism Type 1C | 7 |
| Pseudopseudohypoparathyroidism | 6 |
| Pseudoxanthoma Elasticum | 16 |
| Pseudoxanthoma Elasticum, Forme Fruste | 10 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency | 5 |
| Psoriasis 15, pustular, susceptibility to | 2 |
| Psoriasis Susceptibility 13 | 2 |
| Psoriasis susceptibility 2 | 5 |
| Psoriasis Susceptibility 7 | 1 |
| Psoriatic Arthritis, Susceptibility To | 1 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 |
| Pulmonary Alveolar Microlithiasis | 1 |
| Pulmonary Arterial Hypertension | 4 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 | 1 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | 1 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | 1 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 | 1 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1 | 10 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 | 7 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 | 8 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 | 10 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 4 |
| Pulmonary hypertension, neonatal, susceptibility to | 6 |
| Pulmonary hypertension, primary, 2 | 2 |
| Pulmonary hypertension, primary, 3 | 7 |
| Pulmonary hypertension, primary, 4 | 3 |
| Pulmonary Veno-Occlusive Disease | 3 |
| Pulmonary venoocclusive disease 2 | 2 |
| Purine Nucleoside Phosphorylase Deficiency | 6 |
| Pyknodysostosis | 3 |
| Pyle disease | 1 |
| Pyogenic Arthritis, Pyoderma Gangrenosum And Acne | 4 |
| Pyridoxal 5'-Phosphate-Dependent Epilepsy | 6 |
| Pyridoxine-Dependent Epilepsy | 7 |
| Pyruvate Carboxylase Deficiency | 11 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency | 11 |
| Pyruvate Dehydrogenase E1-Beta Deficiency | 6 |
| Pyruvate Dehydrogenase E2 Deficiency | 8 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency | 9 |
| Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency | 9 |
| Pyruvate Dehydrogenase Phosphatase Deficiency | 6 |
| Pyruvate Kinase Deficiency | 4 |
| Quebec Platelet Disorder | 2 |
| Question mark ears, isolated | 2 |
| Rabin-Pappas syndrome | 2 |
| Radio-Tartaglia syndrome | 2 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia | 6 |
| Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 | 5 |
| Rahman syndrome | 1 |
| Raine Syndrome | 3 |
| Rajab interstitial lung disease with brain calcifications | 3 |
| Rajab interstitial lung disease with brain calcifications 2 | 1 |
| Rapadilino Syndrome | 13 |
| Raph Blood Group System | 1 |
| Rapp-Hodgkin Ectodermal Dysplasia Syndrome | 11 |
| RAS-Associated Autoimmune Leukoproliferative Disorder | 11 |
| Recessive Dystrophic Epidermolysis Bullosa | 7 |
| Refsum Disease, Classic | 8 |
| Reifenstein Syndrome | 3 |
| Reis-Bucklers' Corneal Dystrophy | 1 |
| Renal Adysplasia | 4 |
| Renal Cell Carcinoma, Nonpapillary | 12 |
| Renal Cell Carcinoma, Papillary, 1 | 4 |
| Renal Cell Carcinoma, Xp11-Associated | 1 |
| Renal Dysplasia And Retinal Aplasia | 14 |
| Renal Hypodysplasia/Aplasia 2 | 3 |
| Renal Hypodysplasia/Aplasia 3 | 4 |
| Renal hypodysplasia/aplasia 4 | 1 |
| Renal Hypouricemia 2 | 5 |
| Renal Tubular Acidosis With Progressive Nerve Deafness | 5 |
| Renal Tubular Acidosis, Distal, Autosomal Dominant | 5 |
| Renal Tubular Acidosis, Distal, Autosomal Recessive | 5 |
| Renal Tubular Acidosis, Distal, With Hemolytic Anemia | 4 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation | 5 |
| Renal Tubular Dysgenesis | 12 |
| Renal-Hepatic-Pancreatic Dysplasia | 7 |
| Renal-hepatic-pancreatic dysplasia 2 | 6 |
| Renpenning Syndrome 1 | 10 |
| Respiratory papillomatosis, juvenile recurrent, congenital | 1 |
| Restrictive Dermopathy, Lethal | 11 |
| Reticular Dysgenesis | 6 |
| Reticulate Acropigmentation Of Kitamura | 2 |
| Retinal arteries, tortuosity of | 12 |
| Retinal Cone Dystrophy 3A | 5 |
| Retinal Cone Dystrophy 3B | 5 |
| Retinal Cone Dystrophy 4 | 6 |
| Retinal Dystrophy and Iris Coloboma with or without Cataract | 3 |
| Retinal dystrophy and microvillus inclusion disease | 1 |
| Retinal Dystrophy and Obesity | 3 |
| Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities | 5 |
| Retinal dystrophy with leukodystrophy | 3 |
| Retinal Dystrophy with Macular Staphyloma | 6 |
| Retinal Dystrophy with or without Extraocular Anomalies | 5 |
| Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome | 4 |
| Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome | 3 |
| Retinitis Pigmentosa | 5 |
| Retinitis Pigmentosa 1 | 8 |
| Retinitis Pigmentosa 10 | 6 |
| Retinitis Pigmentosa 11 | 5 |
| Retinitis Pigmentosa 12 | 7 |
| Retinitis Pigmentosa 13 | 6 |
| Retinitis Pigmentosa 14 | 7 |
| Retinitis Pigmentosa 15 | 11 |
| Retinitis Pigmentosa 17 | 6 |
| Retinitis Pigmentosa 18 | 6 |
| Retinitis Pigmentosa 19 | 7 |
| Retinitis Pigmentosa 2 | 5 |
| Retinitis Pigmentosa 20 | 8 |
| Retinitis Pigmentosa 23 | 14 |
| Retinitis Pigmentosa 25 | 6 |
| Retinitis Pigmentosa 26 | 7 |
| Retinitis Pigmentosa 27 | 5 |
| Retinitis Pigmentosa 28 | 6 |
| Retinitis Pigmentosa 30 | 5 |
| Retinitis Pigmentosa 31 | 5 |
| Retinitis pigmentosa 32 | 1 |
| Retinitis Pigmentosa 33 | 6 |
| Retinitis Pigmentosa 35 | 7 |
| Retinitis Pigmentosa 36 | 5 |
| Retinitis Pigmentosa 37 | 7 |
| Retinitis Pigmentosa 38 | 6 |
| Retinitis Pigmentosa 39 | 6 |
| Retinitis Pigmentosa 4 | 8 |
| Retinitis Pigmentosa 40 | 9 |
| Retinitis Pigmentosa 41 | 7 |
| Retinitis Pigmentosa 42 | 7 |
| Retinitis Pigmentosa 43 | 7 |
| Retinitis Pigmentosa 44 | 5 |
| Retinitis Pigmentosa 45 | 5 |
| Retinitis Pigmentosa 46 | 5 |
| Retinitis Pigmentosa 47 | 6 |
| Retinitis Pigmentosa 48 | 6 |
| Retinitis Pigmentosa 49 | 7 |
| Retinitis Pigmentosa 50 | 11 |
| Retinitis Pigmentosa 51 | 9 |
| Retinitis Pigmentosa 54 | 6 |
| Retinitis Pigmentosa 55 | 9 |
| Retinitis Pigmentosa 56 | 6 |
| Retinitis Pigmentosa 57 | 4 |
| Retinitis Pigmentosa 58 | 5 |
| Retinitis Pigmentosa 59 | 10 |
| Retinitis Pigmentosa 60 | 6 |
| Retinitis Pigmentosa 61 | 5 |
| Retinitis Pigmentosa 62 | 4 |
| Retinitis Pigmentosa 66 | 7 |
| Retinitis Pigmentosa 67 | 2 |
| Retinitis Pigmentosa 68 | 6 |
| Retinitis Pigmentosa 69 | 3 |
| Retinitis Pigmentosa 7 | 9 |
| Retinitis Pigmentosa 70 | 2 |
| Retinitis Pigmentosa 71 | 12 |
| Retinitis Pigmentosa 72 | 4 |
| Retinitis Pigmentosa 73 | 6 |
| Retinitis Pigmentosa 74 | 7 |
| Retinitis Pigmentosa 75 | 2 |
| Retinitis pigmentosa 76 | 9 |
| Retinitis Pigmentosa 77 | 4 |
| Retinitis pigmentosa 78 | 1 |
| Retinitis pigmentosa 79 | 5 |
| Retinitis pigmentosa 80 | 6 |
| Retinitis Pigmentosa 81 | 5 |
| Retinitis pigmentosa 83 | 1 |
| Retinitis pigmentosa 84 | 1 |
| Retinitis pigmentosa 85 | 1 |
| Retinitis pigmentosa 86 | 1 |
| Retinitis pigmentosa 87 with choroidal involvement | 2 |
| Retinitis pigmentosa 88 | 1 |
| Retinitis pigmentosa 89 | 1 |
| Retinitis Pigmentosa 9 | 3 |
| Retinitis pigmentosa 90 | 1 |
| Retinitis pigmentosa 91 | 2 |
| Retinitis pigmentosa 93 | 1 |
| Retinitis Pigmentosa and Erythrocytic Microcytosis | 9 |
| Retinitis Pigmentosa with or without Situs Inversus | 4 |
| Retinitis pigmentosa with or without skeletal anomalies | 2 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness | 11 |
| Retinoblastoma | 3 |
| Retinoschisis 1, X-Linked, Juvenile | 6 |
| Rett Syndrome | 10 |
| Rett Syndrome, Congenital Variant | 10 |
| Revesz Syndrome | 6 |
| Reynolds Syndrome | 6 |
| Rh-Null, Regulator Type | 1 |
| Rhabdoid Tumor Predisposition Syndrome 1 | 9 |
| Rhabdoid Tumor Predisposition Syndrome 2 | 15 |
| Rhabdomyosarcoma Alveolar | 6 |
| Rhabdomyosarcoma, embryonal, 2 | 4 |
| Rheumatoid Arthritis | 3 |
| Rhizomelic Chondrodysplasia Punctata Type 1 | 12 |
| Rhizomelic Chondrodysplasia Punctata Type 2 | 8 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 | 7 |
| Rhizomelic chondrodysplasia punctata, type 5 | 11 |
| Rhizomelic limb shortening with dysmorphic features | 2 |
| RHYNS syndrome | 7 |
| Riboflavin deficiency | 3 |
| Riddle Syndrome | 4 |
| Right atrial isomerism | 4 |
| Rigid Spine Muscular Dystrophy 1 | 4 |
| Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal | 5 |
| Ring Dermoid Of Cornea | 11 |
| Rippling Muscle Disease | 6 |
| Ritscher-Schinzel syndrome 1 | 4 |
| Ritscher-Schinzel Syndrome 2 | 2 |
| Roberts Syndrome | 17 |
| Roberts-SC Phocomelia Syndrome | 11 |
| Robinow Syndrome | 11 |
| Robinow syndrome, autosomal dominant 2 | 3 |
| Robinow syndrome, autosomal dominant 3 | 3 |
| Robinow Syndrome, Autosomal Recessive | 10 |
| Robinow syndrome, autosomal recessive 2 | 1 |
| Robinow-Sorauf Syndrome | 8 |
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 3 |
| Roifman syndrome | 5 |
| Roifman-Chitayat syndrome, digenic | 2 |
| Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked | 2 |
| ROSAH syndrome | 4 |
| Rothmund-Thomson Syndrome | 16 |
| Rotor syndrome | 5 |
| Roussy-Levy Syndrome | 1 |
| Rubinstein-Taybi Syndrome | 20 |
| Rubinstein-Taybi Syndrome 2 | 14 |
| Ruijs-Aalfs syndrome | 1 |
| SADDAN | 10 |
| Saethre-Chotzen Syndrome | 17 |
| Salla Disease | 8 |
| Sandestig-Stefanova syndrome | 2 |
| Sandhoff Disease | 10 |
| Sarcosine Dehydrogenase Deficiency | 1 |
| Saul-Wilson syndrome | 5 |
| Scalp-ear-nipple syndrome | 6 |
| Scaphocephaly, Maxillary Retrusion, And Mental Retardation | 10 |
| Scapuloperoneal Myopathy, Myh7-Related | 5 |
| Scapuloperoneal Myopathy, X-Linked Dominant | 5 |
| Scapuloperoneal Spinal Muscular Atrophy | 7 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type | 2 |
| Schaaf-Yang Syndrome | 5 |
| Schimke Immunoosseous Dysplasia | 8 |
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | 11 |
| Schindler Disease, Type 1 | 5 |
| Schinzel-Giedion Midface Retraction Syndrome | 9 |
| Schizencephaly | 7 |
| Schizophrenia | 6 |
| Schizophrenia 15 | 5 |
| Schizophrenia 17 | 5 |
| Schizophrenia 9 | 1 |
| Schneckenbecken Dysplasia | 2 |
| Schnyder Crystalline Corneal Dystrophy | 3 |
| Schopf-Schulz-Passarge Syndrome | 2 |
| Schuurs-Hoeijmakers Syndrome | 7 |
| Schwannomatosis 1 | 12 |
| Schwannomatosis 2 | 6 |
| Schwartz Jampel Syndrome Type 1 | 3 |
| SCID Due To Absent Class II HLA Antigens | 3 |
| SCID, autosomal recessive, T-negative/B-positive type | 3 |
| Sclerosing cholangitis, neonatal | 4 |
| Sclerosteosis | 2 |
| Sclerosteosis 2 | 6 |
| Scott Syndrome | 4 |
| Sea-Blue Histiocyte Syndrome | 4 |
| Sebastian Syndrome | 3 |
| Seckel Syndrome | 7 |
| Seckel syndrome 10 | 1 |
| Seckel Syndrome 2 | 5 |
| Seckel Syndrome 4 | 5 |
| Seckel Syndrome 5 | 3 |
| Seckel syndrome 6 | 1 |
| Seckel syndrome 7 | 2 |
| Seckel syndrome 8 | 7 |
| Seckel Syndrome 9 | 4 |
| Seizures, Benign Familial Infantile, 2 | 9 |
| Seizures, benign familial infantile, 5 | 7 |
| Seizures, Benign Familial Neonatal, 2 | 6 |
| Seizures, Cortical Blindness, Microcephaly Syndrome | 8 |
| Seizures, early-onset, with neurodegeneration and brain calcification | 1 |
| Seizures, scoliosis, and macrocephaly syndrome | 5 |
| Sengers syndrome | 12 |
| Senior-Loken Syndrome 4 | 8 |
| Senior-Loken Syndrome 5 | 10 |
| Senior-Loken Syndrome 6 | 16 |
| Senior-Loken Syndrome 7 | 14 |
| Senior-Loken Syndrome 8 | 7 |
| Senior-Loken syndrome 9 | 3 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis | 16 |
| Sepiapterin Reductase Deficiency | 7 |
| Septooptic Dysplasia | 12 |
| Serkal Syndrome | 3 |
| Serum Level Of Adiponectin 1 | 2 |
| SeSAME Syndrome | 11 |
| Severe Combined Immunodeficiency Due To Ada Deficiency | 9 |
| Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation | 3 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation | 5 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive | 7 |
| Severe Congenital Neutropenia Autosomal Dominant | 8 |
| Severe Congenital Neutropenia Autosomal Recessive 3 | 6 |
| Severe Congenital Neutropenia X-Linked | 7 |
| Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, NK Cell-Positive | 7 |
| Severe Myoclonic Epilepsy In Infancy | 11 |
| Severe X-Linked Myotubular Myopathy | 6 |
| Shaheen syndrome | 6 |
| Shashi-Pena syndrome | 5 |
| Short QT Syndrome 1 | 5 |
| Short QT Syndrome 2 | 7 |
| Short QT Syndrome 3 | 8 |
| Short stature with microcephaly and distinctive facies | 5 |
| Short stature with nonspecific skeletal abnormalities | 3 |
| Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | 4 |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities | 2 |
| Short stature, brachydactyly, intellectual developmental disability, and seizures | 3 |
| Short stature, developmental delay, and congenital heart defects | 2 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 4 |
| Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | 2 |
| Short Stature, Idiopathic, Autosomal | 3 |
| Short Stature, Idiopathic, X-Linked | 3 |
| Short Stature, Mcrocephaly, and Endocrine Dysfunction | 4 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis | 3 |
| Short stature, Optic nerve atrophy, and Pelger-Huet anomaly | 13 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 3 |
| SHORT syndrome | 7 |
| Short-Rib Thoracic Dysplasia 10 with or without Polydactyly | 14 |
| Short-Rib Thoracic Dysplasia 11 with or without Polydactyly | 5 |
| Short-Rib Thoracic Dysplasia 13 with or without Polydactyly | 10 |
| Short-rib thoracic dysplasia 14 with polydactyly | 7 |
| Short-rib thoracic dysplasia 15 with polydactyly | 5 |
| Short-rib thoracic dysplasia 16 with or without polydactyly | 5 |
| Short-rib thoracic dysplasia 17 with or without polydactyly | 3 |
| Short-rib thoracic dysplasia 18 with polydactyly | 6 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 6 |
| Short-Rib Thoracic Dysplasia 2 with or without Polydactyly | 8 |
| Short-rib thoracic dysplasia 20 with polydactyly | 6 |
| Short-rib thoracic dysplasia 21 without polydactyly | 1 |
| Short-Rib Thoracic Dysplasia 3 with or without Polydactyly | 13 |
| Short-Rib Thoracic Dysplasia 4 with or without Polydactyly | 7 |
| Short-Rib Thoracic Dysplasia 5 with or without Polydactyly | 8 |
| Short-Rib Thoracic Dysplasia 6 with or without Polydactyly | 11 |
| Short-Rib Thoracic Dysplasia 7 with or without Polydactyly | 15 |
| Short-Rib Thoracic Dysplasia 8 with or without Polydactyly | 9 |
| Short-Rib Thoracic Dysplasia 9 with or without Polydactyly | 13 |
| Shprintzen-Goldberg Syndrome | 8 |
| Shukla-Vernon syndrome | 1 |
| Shwachman Syndrome | 9 |
| Shwachman-Diamond syndrome 2 | 8 |
| Sialic Acid Storage Disease, Severe Infantile Type | 9 |
| Sialidosis, Type II | 8 |
| Sialuria | 8 |
| Sick Sinus Syndrome 1, Autosomal Recessive | 3 |
| Sick Sinus Syndrome 2, Autosomal Dominant | 10 |
| Sick Sinus Syndrome 3, Susceptibility To | 5 |
| Sickle Cell Anemia | 2 |
| Siddiqi syndrome | 2 |
| Siderius X-Linked Mental Retardation Syndrome | 3 |
| Sideroblastic Anemia And Mitochondrial Myopathy | 7 |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 10 |
| Sifrim-Hitz-Weiss Syndrome | 8 |
| Simpson-Golabi-Behmel Syndrome | 18 |
| Simpson-Golabi-Behmel Syndrome, Type 2 | 16 |
| Single Upper Central Incisor | 9 |
| Singleton-Merten Syndrome 1 | 8 |
| Singleton-Merten syndrome 2 | 3 |
| Sinoatrial node dysfunction and deafness | 6 |
| Sitosterolemia | 11 |
| Sitosterolemia 2 | 5 |
| Sjogren-Larsson Syndrome | 5 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 3 |
| Skin Fragility Woolly Hair Syndrome | 5 |
| Skin/Hair/Eye Pigmentation, Variation In, 1 | 6 |
| Skin/Hair/Eye Pigmentation, Variation In, 2 | 1 |
| Skin/Hair/Eye Pigmentation, Variation In, 3 | 6 |
| Skin/Hair/Eye Pigmentation, Variation In, 4 | 4 |
| Skin/Hair/Eye Pigmentation, Variation In, 5 | 2 |
| Skin/Hair/Eye Pigmentation, Variation In, 6 | 1 |
| Skin/Hair/Eye Pigmentation, Variation In, 7 | 2 |
| Skraban-Deardorff syndrome | 4 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant | 2 |
| Small patella syndrome | 5 |
| Smith McCort Dysplasia | 5 |
| Smith-Kingsmore Syndrome | 9 |
| Smith-Lemli-Opitz Syndrome | 27 |
| Smith-Magenis Syndrome | 8 |
| Smith-McCort Dysplasia 2 | 1 |
| Smoking As A Quantitative Trait Locus 3 | 1 |
| Sneddon syndrome | 5 |
| Snijders Blok-Campeau syndrome | 4 |
| Snijders Blok-Fisher syndrome | 1 |
| Snowflake Vitreoretinal Degeneration | 3 |
| Snyder Robinson Syndrome | 12 |
| Sodium Serum Level Quantitative Trait Locus 1 | 4 |
| Sorbitol dehydrogenase deficiency with peripheral neuropathy | 1 |
| Sorsby Fondus Dystrophy | 4 |
| Sotos Syndrome 2 | 6 |
| Sotos syndrome 3 | 3 |
| Sotos' Syndrome | 12 |
| Spastic ataxia 1, autosomal dominant | 6 |
| Spastic ataxia 10, autosomal recessive | 3 |
| Spastic Ataxia 2, Autosomal Recessive | 4 |
| Spastic Ataxia 3 | 5 |
| Spastic Ataxia 4, Autosomal Recessive | 8 |
| Spastic ataxia 5, autosomal recessive | 8 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 5 |
| Spastic ataxia 9, autosomal recessive | 1 |
| Spastic Ataxia Charlevoix-Saguenay Type | 7 |
| Spastic Paraplegia 10 | 10 |
| Spastic Paraplegia 11 | 13 |
| Spastic Paraplegia 12 | 4 |
| Spastic Paraplegia 13 | 8 |
| Spastic Paraplegia 15 | 9 |
| Spastic Paraplegia 17 | 12 |
| Spastic Paraplegia 18 | 6 |
| Spastic paraplegia 18A, autosomal dominant | 1 |
| Spastic Paraplegia 2 | 10 |
| Spastic Paraplegia 23 | 6 |
| Spastic Paraplegia 26 | 6 |
| Spastic Paraplegia 28 | 6 |
| Spastic Paraplegia 3 | 7 |
| Spastic Paraplegia 30 | 12 |
| Spastic Paraplegia 31 | 7 |
| Spastic Paraplegia 33 | 3 |
| Spastic paraplegia 35 | 8 |
| Spastic Paraplegia 39 | 7 |
| Spastic Paraplegia 4 | 8 |
| Spastic Paraplegia 42 | 10 |
| Spastic Paraplegia 43 | 7 |
| Spastic Paraplegia 44 | 4 |
| Spastic Paraplegia 45 | 5 |
| Spastic Paraplegia 46 | 6 |
| Spastic Paraplegia 47 | 7 |
| Spastic Paraplegia 48 | 6 |
| Spastic Paraplegia 49 | 7 |
| Spastic Paraplegia 50 | 8 |
| Spastic Paraplegia 51 | 7 |
| Spastic Paraplegia 52 | 7 |
| Spastic Paraplegia 53 | 4 |
| Spastic Paraplegia 54 | 7 |
| Spastic Paraplegia 55 | 7 |
| Spastic Paraplegia 56 | 8 |
| Spastic Paraplegia 57 | 8 |
| Spastic Paraplegia 5A | 10 |
| Spastic Paraplegia 6 | 6 |
| Spastic Paraplegia 61 | 4 |
| Spastic Paraplegia 62 | 4 |
| Spastic Paraplegia 63 | 7 |
| Spastic Paraplegia 64 | 5 |
| Spastic Paraplegia 7 | 12 |
| Spastic Paraplegia 72 | 4 |
| Spastic Paraplegia 73 | 5 |
| Spastic Paraplegia 74 | 7 |
| Spastic Paraplegia 75 | 6 |
| Spastic Paraplegia 76 | 5 |
| Spastic Paraplegia 77 | 8 |
| Spastic Paraplegia 78 | 9 |
| Spastic Paraplegia 79 | 7 |
| Spastic paraplegia 79A, autosomal dominant | 2 |
| Spastic Paraplegia 8 | 7 |
| Spastic paraplegia 80, autosomal dominant | 2 |
| Spastic paraplegia 81, autosomal recessive | 2 |
| Spastic paraplegia 82, autosomal recessive | 2 |
| Spastic paraplegia 83, autosomal recessive | 2 |
| Spastic paraplegia 84, autosomal recessive | 4 |
| Spastic paraplegia 86, autosomal recessive | 1 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 3 |
| Spastic Paraplegia 9A | 11 |
| Spastic Paraplegia 9B | 11 |
| Spastic Paraplegia and Psychomotor Retardation with or without Seizures | 8 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity | 6 |
| Spastic paraplegia, optic atrophy, and neuropathy | 3 |
| Spastic tetraplegia and axial hypotonia, progressive | 1 |
| Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 5 |
| Spasticity, childhood-onset, with hyperglycinemia | 6 |
| Specific Granule Deficiency | 3 |
| Specific Granule Deficiency 2 | 4 |
| Speech-Language Disorder 1 | 1 |
| Spermatogenic failure | 4 |
| Spermatogenic failure 1 | 2 |
| Spermatogenic Failure 10 | 2 |
| Spermatogenic Failure 11 | 2 |
| Spermatogenic Failure 12 | 2 |
| Spermatogenic Failure 13 | 2 |
| Spermatogenic Failure 14 | 2 |
| Spermatogenic Failure 15 | 2 |
| Spermatogenic Failure 16 | 2 |
| Spermatogenic Failure 17 | 2 |
| Spermatogenic failure 18 | 6 |
| Spermatogenic Failure 19 | 2 |
| Spermatogenic Failure 2 | 2 |
| Spermatogenic Failure 20 | 2 |
| Spermatogenic Failure 21 | 2 |
| Spermatogenic failure 23 | 2 |
| Spermatogenic failure 24 | 2 |
| Spermatogenic failure 25 | 2 |
| Spermatogenic failure 27 | 5 |
| Spermatogenic failure 28 | 9 |
| Spermatogenic Failure 3 | 2 |
| Spermatogenic failure 31 | 2 |
| Spermatogenic failure 32 | 1 |
| Spermatogenic failure 33 | 2 |
| Spermatogenic failure 34 | 2 |
| Spermatogenic failure 35 | 2 |
| Spermatogenic failure 36 | 2 |
| Spermatogenic failure 37 | 2 |
| Spermatogenic failure 38 | 2 |
| Spermatogenic failure 39 | 2 |
| Spermatogenic Failure 4 | 2 |
| Spermatogenic failure 40 | 2 |
| Spermatogenic failure 41 | 2 |
| Spermatogenic failure 42 | 2 |
| Spermatogenic failure 43 | 6 |
| Spermatogenic failure 44 | 2 |
| Spermatogenic failure 45 | 2 |
| Spermatogenic failure 46 | 5 |
| Spermatogenic failure 47 | 3 |
| Spermatogenic failure 48 | 2 |
| Spermatogenic failure 49 | 2 |
| Spermatogenic failure 51 | 2 |
| Spermatogenic failure 52 | 2 |
| Spermatogenic failure 53 | 2 |
| Spermatogenic failure 56 | 2 |
| Spermatogenic failure 57 | 2 |
| Spermatogenic failure 58 | 2 |
| Spermatogenic Failure 6 | 3 |
| Spermatogenic failure 72 | 1 |
| Spermatogenic Failure 8 | 5 |
| Spermatogenic Failure 9 | 2 |
| Spermatogenic failure, X-linked, 3 | 2 |
| Spermatogenic Failure, Y-Linked, 1 | 1 |
| Spermatogenic Failure, Y-Linked, 2 | 1 |
| Spherocytosis, type 2 | 4 |
| Spherocytosis, Type 3 | 4 |
| Spherocytosis, Type 4 | 5 |
| Spherocytosis, Type 5 | 5 |
| Spheroid Body Myopathy | 3 |
| Sphingolipid Activator Protein 1 Deficiency | 9 |
| Spiegler-Brooke Syndrome | 1 |
| Spinal muscular atrophy with congenital bone fractures 1 | 4 |
| Spinal muscular atrophy with congenital bone fractures 2 | 4 |
| Spinal muscular atrophy with progressive myoclonic epilepsy | 10 |
| Spinal Muscular Atrophy With Respiratory Distress 1 | 4 |
| Spinal muscular atrophy, distal, autosomal recessive, 2 | 5 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | 1 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 | 4 |
| Spinal Muscular Atrophy, Distal, Congenital Nonprogressive | 6 |
| Spinal Muscular Atrophy, Distal, X-Linked 3 | 19 |
| Spinal muscular atrophy, infantile, James type | 1 |
| Spinal muscular atrophy, Jokela type | 4 |
| Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant; SMALED | 9 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 | 6 |
| Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | 2 |
| Spinal Muscular Atrophy, Type I | 1 |
| Spinal Muscular Atrophy, Type II | 1 |
| Spinal Muscular Atrophy, Type III | 1 |
| Spinal Muscular Atrophy, Type IV | 1 |
| Spinocerebellar Ataxia 10 | 1 |
| Spinocerebellar Ataxia 11 | 2 |
| Spinocerebellar Ataxia 13 | 1 |
| Spinocerebellar Ataxia 14 | 1 |
| Spinocerebellar Ataxia 15 | 8 |
| Spinocerebellar Ataxia 17 | 1 |
| Spinocerebellar ataxia 19 | 4 |
| Spinocerebellar Ataxia 2 | 3 |
| Spinocerebellar Ataxia 21 | 2 |
| Spinocerebellar Ataxia 23 | 2 |
| Spinocerebellar ataxia 25 | 1 |
| Spinocerebellar ataxia 26 | 1 |
| Spinocerebellar Ataxia 27 | 2 |
| Spinocerebellar Ataxia 28 | 7 |
| Spinocerebellar ataxia 29, congenital nonprogressive | 8 |
| Spinocerebellar ataxia 34 | 5 |
| Spinocerebellar Ataxia 35 | 2 |
| Spinocerebellar ataxia 37 | 1 |
| Spinocerebellar ataxia 38 | 2 |
| Spinocerebellar ataxia 40 | 4 |
| Spinocerebellar ataxia 41 | 2 |
| Spinocerebellar ataxia 42 | 3 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 3 |
| Spinocerebellar ataxia 43 | 3 |
| Spinocerebellar ataxia 44 | 3 |
| Spinocerebellar ataxia 45 | 1 |
| Spinocerebellar ataxia 46 | 3 |
| Spinocerebellar ataxia 47 | 3 |
| Spinocerebellar ataxia 48 | 1 |
| Spinocerebellar Ataxia 5 | 2 |
| Spinocerebellar Ataxia 6 | 8 |
| Spinocerebellar Ataxia 7 | 2 |
| Spinocerebellar Ataxia Autosomal Recessive 1 | 10 |
| Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy | 2 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 | 4 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 | 2 |
| Spinocerebellar ataxia, autosomal recessive 12 | 7 |
| Spinocerebellar ataxia, autosomal recessive 13 | 3 |
| Spinocerebellar ataxia, autosomal recessive 14 | 2 |
| Spinocerebellar ataxia, autosomal recessive 15 | 2 |
| Spinocerebellar ataxia, autosomal recessive 16 | 1 |
| Spinocerebellar ataxia, autosomal recessive 17 | 1 |
| Spinocerebellar ataxia, autosomal recessive 18 | 3 |
| Spinocerebellar ataxia, autosomal recessive 2 | 4 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 | 5 |
| Spinocerebellar ataxia, autosomal recessive 21 | 4 |
| Spinocerebellar ataxia, autosomal recessive 22 | 1 |
| Spinocerebellar ataxia, autosomal recessive 23 | 2 |
| Spinocerebellar ataxia, autosomal recessive 24 | 3 |
| Spinocerebellar ataxia, autosomal recessive 25 | 3 |
| Spinocerebellar ataxia, autosomal recessive 26 | 1 |
| Spinocerebellar ataxia, autosomal recessive 27 | 1 |
| Spinocerebellar ataxia, autosomal recessive 28 | 2 |
| Spinocerebellar ataxia, autosomal recessive 30 | 1 |
| Spinocerebellar ataxia, autosomal recessive 31 | 2 |
| Spinocerebellar ataxia, autosomal recessive 4 | 3 |
| Spinocerebellar ataxia, autosomal recessive 7 | 8 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 | 4 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 6 |
| Spinocerebellar ataxia, X-linked 1 | 1 |
| Spitz nevus or nevus spilus, somatic | 10 |
| Split-foot malformation with mesoaxial polydactyly | 5 |
| Split-hand/foot malformation 1 | 4 |
| Split-hand/foot malformation 1 with sensorineural hearing loss | 6 |
| Split-Hand/Foot Malformation 4 | 9 |
| Split-Hand/Foot Malformation 6 | 5 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | 1 |
| Spondylocarpotarsal Synostosis Syndrome | 5 |
| Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like | 4 |
| Spondylocostal Dysostosis 1 | 4 |
| Spondylocostal Dysostosis 2 | 5 |
| Spondylocostal Dysostosis 3 | 6 |
| Spondylocostal Dysostosis 4 | 5 |
| Spondylocostal Dysostosis 5 | 4 |
| Spondylocostal dysostosis 6 | 4 |
| Spondyloenchondrodysplasia With Immune Dysregulation | 9 |
| Spondyloepimetaphyseal Dysplasia Matrilin-3 Related | 4 |
| Spondyloepimetaphyseal Dysplasia Strudwick Type | 14 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 6 |
| Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 | 2 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 1 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type | 2 |
| Spondyloepimetaphyseal dysplasia, Camera-Genevieve type | 5 |
| Spondyloepimetaphyseal dysplasia, Di Rocco type | 2 |
| Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | 1 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 2 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type | 2 |
| Spondyloepimetaphyseal dysplasia, Shohat type | 2 |
| Spondyloepimetaphyseal dysplasia, sponastrime type | 4 |
| Spondyloepimetaphyseal dysplasia, X-linked | 5 |
| Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | 6 |
| Spondyloepiphyseal Dysplasia Congenita | 14 |
| Spondyloepiphyseal Dysplasia Maroteaux Type | 5 |
| Spondyloepiphyseal Dysplasia Tarda | 3 |
| Spondyloepiphyseal Dysplasia Tarda Progressive Arthropathy | 1 |
| Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | 5 |
| Spondyloepiphyseal Dysplasia, Kimberley Type | 2 |
| Spondyloepiphyseal dysplasia, Kondo-Fu type | 1 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis | 1 |
| Spondyloepiphyseal Sysplasia, Stanescu Type | 13 |
| Spondylometaepiphyseal Dysplasia Short Limb-Hand Type | 4 |
| Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | 7 |
| Spondylometaphyseal dysplasia with corneal dystrophy | 1 |
| Spondylometaphyseal dysplasia, axial | 5 |
| Spondylometaphyseal dysplasia, corner fracture type | 2 |
| Spondylometaphyseal Dysplasia, Kozlowski Type | 5 |
| Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type | 2 |
| Spondylometaphyseal dysplasia, Sedaghatian type | 2 |
| Spondyloocular syndrome | 9 |
| Spondyloperipheral Dysplasia | 14 |
| Spongy Degeneration Of Central Nervous System | 8 |
| Squalene synthase deficiency | 9 |
| Stankiewicz-Isidor syndrome | 2 |
| Stapes Ankylosis With Broad Thumb And Toes | 6 |
| STAR Syndrome | 7 |
| Stargardt Disease 1 | 9 |
| Stargardt Disease 3 | 9 |
| Stargardt Disease 4 | 7 |
| Steel Syndrome | 1 |
| Stickler Syndrome Type 1 | 17 |
| Stickler Syndrome, Type 2 | 14 |
| Stickler Syndrome, Type 3 | 10 |
| Stickler Syndrome, Type 4 | 12 |
| Stickler Syndrome, Type 5 | 12 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular | 19 |
| Stiff Skin Syndrome | 15 |
| STING-associated vasculopathy, infantile-onset | 2 |
| Stocco Dos Santos Syndrome | 3 |
| Stomatin-deficient cryohydrocytosis with neurologic defects | 9 |
| Stomatocytosis I | 1 |
| Stormorken syndrome | 7 |
| Striatal degeneration, autosomal dominant | 2 |
| Striatal Degeneration, Autosomal Dominant | 2 |
| Striatal Necrosis, Bilateral, And Progressive Polyneuropathy | 5 |
| Striatonigral Degeneration Infantile | 1 |
| Striatonigral degeneration, childhood-onset | 3 |
| Stroke 1 | 1 |
| Stroke, hemorrhagic | 11 |
| Stromme syndrome | 11 |
| Structural brain anomalies with impaired intellectual development and craniosynostosis | 1 |
| Sturge-Weber syndrome, somatic, mosaic | 1 |
| Stuttering, familial persistent, 1 | 4 |
| Stuttering, Familial Persistent, 2 | 4 |
| Stuve-Wiedemann Syndrome | 3 |
| Stuve-Wiedemann syndrome 2 | 1 |
| Succinate-Semialdehyde Dehydrogenase Deficiency | 6 |
| Succinyl-CoA Acetoacetate Transferase Deficiency | 5 |
| Sucrase-Isomaltase Deficiency | 4 |
| Sudden cardiac failure, alcohol-induced | 4 |
| Sudden cardiac failure, infantile | 4 |
| Sudden Infant Death Syndrome | 2 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome | 3 |
| Sulfide:quinone oxidoreductase deficiency | 2 |
| Sulfite Oxidase Deficiency | 7 |
| Supranuclear Palsy, Progressive, 1 | 5 |
| Supravalvar Aortic Stenosis | 8 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 | 5 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 | 4 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 | 5 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 | 3 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 | 4 |
| Sveinsson Chorioretinal Atrophy | 2 |
| Sweeney-Cox syndrome | 7 |
| Symmetric circumferential skin creases, congenital, 1 | 2 |
| Symmetric circumferential skin creases, congenital, 2 | 2 |
| Symmetrical Dyschromatosis Of Extremities | 4 |
| Symphalangism, Proximal, 1B | 5 |
| Syndactyly Cenani Lenz Type | 8 |
| Syndactyly Type 3 | 10 |
| Syndactyly Type 5 | 8 |
| Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction | 7 |
| Syndactyly, Type IV | 5 |
| Synpolydactyly 1 | 9 |
| Synpolydactyly 2 | 5 |
| Systemic Carnitine Deficiency | 11 |
| Systemic Lupus Erythematosus | 9 |
| Systemic Lupus Erythematosus 11 | 2 |
| Systemic lupus erythematosus 16 | 2 |
| Systemic lupus erythematosus 17 | 2 |
| Systemic Lupus Erythematosus 2 | 2 |
| Systemic Lupus Erythematosus 9 | 4 |
| T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy | 2 |
| T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations | 2 |
| T-cell lymphoma, subcutaneous panniculitis-like | 3 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 |
| Takenouchi-Kosaki syndrome | 4 |
| Talipes Equinovarus | 4 |
| Tangier Disease | 4 |
| TARP Syndrome | 5 |
| Tarsal Carpal Coalition Syndrome | 6 |
| Tatton-Brown-Rahman Syndrome | 9 |
| Taurodontism, microdontia, and dens invaginatus | 1 |
| Tay-Sachs Disease | 12 |
| Tay-Sachs disease AB Variant | 12 |
| Telangiectasia, Hereditary Hemorrhagic, Type 5 | 3 |
| Temple-Baraitser Syndrome | 6 |
| Temtamy Preaxial Brachydactyly Syndrome | 6 |
| Temtamy Syndrome | 9 |
| Tenorio Syndrome | 6 |
| Terminal Osseous Dysplasia | 16 |
| Testicular Anomalies with or without Congenital Heart Disease | 11 |
| Testicular Cancer | 12 |
| Testosterone 17-Beta-Dehydrogenase Deficiency | 8 |
| Tetraamelia syndrome 2 | 1 |
| Tetraamelia, Autosomal Recessive | 2 |
| Thalassemias, beta | 2 |
| Thanatophoric Dysplasia Type 1 | 14 |
| Thanatophoric Dysplasia Type 2 | 14 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) | 8 |
| Thiamine Responsive Megaloblastic Anemia Syndrome | 12 |
| Thiel-Behnke Corneal Dystrophy | 2 |
| Thiopurine Methyltransferase Deficiency | 1 |
| Three M Syndrome 1 | 6 |
| Three M Syndrome 2 | 1 |
| Thrombocythemia 2 | 4 |
| Thrombocythemia 3 | 4 |
| Thrombocytopenia 10 | 1 |
| Thrombocytopenia 12 with or without myopathy | 2 |
| Thrombocytopenia 2 | 10 |
| Thrombocytopenia 3 | 3 |
| Thrombocytopenia 4 | 6 |
| Thrombocytopenia 5 | 9 |
| Thrombocytopenia 6 | 1 |
| Thrombocytopenia 8, with dysmorphic features and developmental delay | 3 |
| Thrombocytopenia, anemia, and myelofibrosis | 2 |
| Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia | 11 |
| Thrombocytopenia, Paris-Trousseau Type | 2 |
| Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis | 9 |
| Thrombocytopenia, X-Linked | 7 |
| Thrombocytopenia-Absent Radius Syndrome | 13 |
| Thrombophilia Due To Activated Protein C Resistance | 3 |
| Thrombophilia Due to Protein S Deficiency, Autosomal Dominant | 6 |
| Thrombophilia Due to Protein S Deficiency, Autosomal Recessive | 6 |
| Thrombophilia Due to Thrombomodulin Defect | 3 |
| Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator | 1 |
| Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant | 5 |
| Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive | 5 |
| Thrombophilia, X-Linked, Due To Factor IX Defect | 2 |
| Thrombosis, Susceptibility To | 9 |
| Thrombotic Thrombocytopenic Purpura | 8 |
| Thyroid Cancer, Follicular | 12 |
| Thyroid Cancer, Hurthle Cell | 3 |
| Thyroid Cancer, Nonmedullary, 4 | 1 |
| Thyroid Cancer, Papillary | 2 |
| Thyroid Dyshormonogenesis 1 | 3 |
| Thyroid Dyshormonogenesis 2A | 3 |
| Thyroid Dyshormonogenesis 3 | 3 |
| Thyroid Dyshormonogenesis 4 | 2 |
| Thyroid Dyshormonogenesis 5 | 3 |
| Thyroid Dyshormonogenesis 6 | 6 |
| Thyroid Hormone Metabolism, Abnormal | 3 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant | 2 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive | 2 |
| Thyroid Hormone Resistance, Selective Pituitary | 2 |
| Thyrotoxic Periodic Paralysis | 2 |
| Thyrotropin-Releasing Hormone Deficiency | 2 |
| Tietz Syndrome | 6 |
| Timothy Syndrome | 16 |
| Tnf Receptor-Associated Periodic Fever Syndrome (Traps) | 9 |
| Tobacco Addiction, Susceptibility To | 6 |
| Tolchin-Le Caignec syndrome | 1 |
| Tooth Agenesis, Selective, 1 | 6 |
| Tooth Agenesis, Selective, 3 | 3 |
| Tooth Agenesis, Selective, 4 | 3 |
| Tooth agenesis, selective, 8 | 4 |
| Tooth Agenesis, Selective, X-Linked, 1 | 3 |
| Torg Winchester Syndrome | 2 |
| Total Hypotrichosis, Mari Type | 1 |
| Townes-Brocks Syndrome | 14 |
| Townes-Brocks syndrome 2 | 1 |
| Traboulsi syndrome | 4 |
| Transcobalamin II Deficiency | 9 |
| Transferrin Serum Level Quantitative Trait Locus 2 | 1 |
| Transient Bullous Dermolysis Of The Newborn | 5 |
| Transient Neonatal Diabetes Mellitus 1 | 2 |
| Transient Neonatal Diabetes Mellitus 2 | 5 |
| Transient Neonatal Diabetes Mellitus 3 | 4 |
| Transposition Of Great Arteries | 8 |
| Transposition Of The Great Arteries, Dextro-Looped 3 | 6 |
| Treacher Collins Syndrome | 8 |
| Treacher Collins Syndrome 2 | 8 |
| Treacher Collins syndrome 3 | 9 |
| Treacher-Collins syndrome 4 | 1 |
| Tremor Hereditary Essential, 1 | 1 |
| Tricho-Dento-Osseous Syndrome | 3 |
| Trichoepithelioma Multiple Familial 1 | 1 |
| Trichohepatoenteric syndrome 1 | 5 |
| Trichohepatoenteric syndrome 2 | 3 |
| Trichohepatoneurodevelopmental syndrome | 1 |
| Trichorhinophalangeal Dysplasia Type I | 3 |
| Trichorhinophalangeal Syndrome Type 3 | 3 |
| Trichothiodystrophy 2, photosensitive | 8 |
| Trichothiodystrophy 3, photosensitive | 2 |
| Trichothiodystrophy 5, nonphotosensitive | 6 |
| Trichothiodystrophy 6, nonphotosensitive | 2 |
| Trichothiodystrophy 7, nonphotosensitive | 1 |
| Trichothiodystrophy 8, nonphotosensitive | 2 |
| Trichothiodystrophy Photosensitive | 7 |
| Trichothiodystrophy, Nonphotosensitive 1 | 3 |
| Trifunctional Protein Deficiency | 15 |
| Trigonocephaly 2 | 8 |
| Trigonocephaly, Nonsyndromic | 14 |
| Trimethylaminuria | 2 |
| Triokinase and FMN cyclase deficiency syndrome | 1 |
| Tritanopia | 1 |
| Tropical Calcific Pancreatitis | 2 |
| Troyer Syndrome | 8 |
| Trypsinogen Deficiency | 1 |
| Tuberous Sclerosis 1 | 16 |
| Tuberous Sclerosis 2 | 19 |
| Tumor Predisposition Syndrome | 6 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial | 6 |
| Tumoral calcinosis, hyperphosphatemic, familial, 2 | 4 |
| Tumoral calcinosis, hyperphosphatemic, familial, 3 | 2 |
| Tumoral Calcinosis, Normophosphatemic, Familial | 6 |
| Turcot Syndrome | 13 |
| Turnpenny-Fry syndrome | 1 |
| Tyrosinase-Positive Oculocutaneous Albinism | 6 |
| Tyrosine Hydroxylase Deficiency | 7 |
| Tyrosine Kinase 2 Deficiency | 5 |
| Tyrosinemia Type 2 | 4 |
| Tyrosinemia Type I | 7 |
| Tyrosinemia, Type III | 4 |
| UDPglucose-4-Epimerase Deficiency | 4 |
| Ullrich Congenital Muscular Dystrophy | 13 |
| Ullrich Congenital Muscular Dystrophy 2 | 7 |
| Ulna And Fibula Absence Of With Severe Limb Deficiency | 7 |
| Ulnar-Mammary Syndrome | 7 |
| Unverricht-Lundborg Syndrome | 4 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To | 2 |
| Urocanate Hydratase Deficiency | 2 |
| Urofacial Syndrome 1 | 3 |
| Urofacial syndrome 2 | 2 |
| Uruguay faciocardiomusculoskeletal syndrome | 2 |
| Usher Syndrome Type 3B | 7 |
| Usher Syndrome, Type 1 | 6 |
| Usher Syndrome, Type 1D | 6 |
| Usher Syndrome, Type 1F | 5 |
| Usher syndrome, type 1M | 2 |
| Usher Syndrome, Type 2C | 9 |
| Usher Syndrome, Type 2D | 6 |
| Usher Syndrome, Type 3 | 4 |
| Usher Syndrome, Type Ic | 5 |
| Usher Syndrome, Type Ig | 5 |
| Usher Syndrome, Type IIa | 6 |
| Usher Syndrome, Type IJ | 5 |
| Usher syndrome, type IV | 4 |
| Usmani-Riazuddin syndrome, autosomal dominant | 2 |
| Usmani-Riazuddin syndrome, autosomal recessive | 2 |
| UV-Sensitive Syndrome | 6 |
| UV-sensitive syndrome 2 | 5 |
| Vacterl Association With Hydrocephalus | 2 |
| VACTERL Association With Hydrocephaly, X-Linked | 7 |
| Van Buchem Disease Type 2 | 5 |
| Van Der Woude Syndrome | 8 |
| Van Der Woude Syndrome 2 | 5 |
| Van Esch-O'Driscoll syndrome | 2 |
| Van Maldergem Syndrome 1 | 6 |
| Van Maldergem Syndrome 2 | 10 |
| Variegate Porphyria | 6 |
| Vas Deferens, Congenital Bilateral Aplasia of, X-linked | 2 |
| Vascular malformation, primary intraosseous | 1 |
| Vasculopathy, Retinal, With Cerebral Leukodystrophy | 12 |
| Vater Association | 1 |
| Velocardiofacial Syndrome | 11 |
| Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 1 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 | 2 |
| Ventricular Septal Defect 1 | 9 |
| Ventricular septal defect 2 | 2 |
| Ventricular Septal Defect 3 | 12 |
| Ventricular tachycardia, catecholaminergic polymorphic 6 | 5 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 | 7 |
| Ventricular tachycardia, catecholaminergic polymorphic, 3 | 5 |
| Ventriculomegaly and arthrogryposis | 1 |
| Ventriculomegaly with Cystic Kidney Disease | 7 |
| Verheij syndrome | 4 |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | 2 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 3 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 4 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 3 |
| Ververi-Brady syndrome | 1 |
| Very Long Chain Acyl-CoA Dehydrogenase Deficiency | 12 |
| Vesicoureteral Reflux 2 | 2 |
| Vesicoureteral Reflux 3 | 2 |
| Vesicoureteral Reflux 8 | 6 |
| VEXAS syndrome, somatic | 2 |
| Vici Syndrome | 14 |
| Visceral myopathy | 2 |
| Visceral myopathy 2 | 4 |
| Visceral neuropathy, familial, 1, autosomal recessive | 1 |
| VISS syndrome | 2 |
| Vissers-Bodmer syndrome | 3 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B | 5 |
| Vitamin D-Dependent Rickets, Type 1 | 6 |
| Vitamin D-Dependent Rickets, Type 2 | 7 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 | 4 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2 | 3 |
| Vitelliform Dystrophy | 9 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 | 2 |
| Vitreoretinochoroidopathy Dominant | 8 |
| Vitreoretinopathy with phalangeal epiphyseal dysplasia | 4 |
| Vitreoretinopathy, Neovascular Inflammatory | 6 |
| VLDLR-Associated Cerebellar Hypoplasia | 6 |
| Vohwinkel syndrome | 4 |
| Von Hippel-Lindau Syndrome | 8 |
| Von Willebrand Disease, Recessive Form | 4 |
| Von Willebrand Disease, Type 1 | 5 |
| Von Willebrand Disease, Type 2 | 4 |
| Waardenburg Syndrome Type 1 | 9 |
| Waardenburg Syndrome, Type 2A | 8 |
| Waardenburg Syndrome, Type 2D | 4 |
| Waardenburg Syndrome, Type 2E | 9 |
| Waardenburg syndrome, type 2F | 1 |
| Waardenburg Syndrome, Type 4A | 8 |
| Waardenburg Syndrome, Type 4B | 8 |
| Waardenburg Syndrome, Type 4C | 8 |
| Wagner Syndrome | 7 |
| Waisman Syndrome | 9 |
| Walker-Warburg Congenital Muscular Dystrophy | 18 |
| Walker-Warburg Congenital Muscular Dystrophy | 7 |
| Warburg Micro Syndrome 1 | 12 |
| Warburg Micro Syndrome 2 | 9 |
| Warburg Micro Syndrome 3 | 9 |
| Warburg Micro Syndrome 4 | 10 |
| Warburg-Cinotti syndrome | 3 |
| Warsaw Breakage Syndrome | 1 |
| Warts, Hypogammaglobulinemia, Infections, And Myelokathexis | 6 |
| Watson Syndrome | 15 |
| Weaver Syndrome | 6 |
| Webb-Dattani syndrome | 3 |
| Weill-Marchesani Syndrome 1 | 7 |
| Weill-Marchesani Syndrome 2 | 18 |
| Weill-Marchesani Syndrome 3 | 10 |
| Weill-Marchesani-Like Syndrome | 2 |
| Weiss-Kruszka syndrome | 1 |
| Weissenbacher-Zweymuller Syndrome | 1 |
| Welander distal myopathy | 3 |
| Werner Syndrome | 5 |
| Weyers Acrofacial Dysostosis | 10 |
| WHIM syndrome 2 | 2 |
| White-Sutton Syndrome | 7 |
| Wieacker-Wolff Syndrome | 7 |
| Wieacker-Wolff syndrome, female-restricted | 4 |
| Wiedemann-Rautenstrauch syndrome | 8 |
| Wiedemann-Steiner Syndrome | 14 |
| Wilms Tumor 6, Susceptibility to | 4 |
| Wilms Tumor And Radial Bilateral Aplasia | 1 |
| Wilms' Tumor | 27 |
| Wilson's Disease | 9 |
| Wilson-Turner syndrome | 4 |
| Winchester syndrome | 2 |
| Wiskott-Aldrich Syndrome | 9 |
| Wiskott-Aldrich Syndrome 2 | 5 |
| Witteveen-Kolk Syndrome | 4 |
| Wolcott-Rallison Dysplasia | 5 |
| Wolff-Parkinson-White Pattern | 8 |
| Wolfram Syndrome 2 | 7 |
| Wolfram-Like Syndrome, Autosomal Dominant | 11 |
| Wolman disease | 1 |
| Woodhouse-Sakati Syndrome | 6 |
| Woolly Hair, Autosomal Recessive 1 | 1 |
| Worth Disease | 6 |
| Wrinkly Skin Syndrome | 10 |
| X-Linked Agammaglobulinemia | 10 |
| X-Linked Agammaglobulinemia With Growth Hormone Deficiency | 7 |
| X-Linked Anemia Without Thromobocytopenia | 10 |
| X-Linked Familial Atypical Mycobacteriosis, Type 1 | 6 |
| X-Linked Hydrocephalus Syndrome | 7 |
| X-Linked Ichthyosis | 2 |
| X-Linked Infantile Nystagmus | 4 |
| X-Linked Lissencephaly | 8 |
| X-Linked Lissencephaly 2 | 15 |
| X-Linked Periventricular Heterotopia | 17 |
| X-Linked Recessive Nephrolithiasis With Renal Failure | 5 |
| X-Linked Severe Combined Immunodeficiency | 6 |
| X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance | 12 |
| Xanthinuria, Type I | 5 |
| Xanthinuria, Type II | 2 |
| Xerocytosis Gardos | 5 |
| Xerocytosis, Hereditary | 6 |
| Xeroderma Pigmentosum Type 7 | 7 |
| Xeroderma Pigmentosum, Complementation Group B | 8 |
| Xeroderma Pigmentosum, Complementation Group C | 3 |
| Xeroderma Pigmentosum, Complementation Group D | 8 |
| Xeroderma Pigmentosum, Complementation Group E | 3 |
| Xeroderma Pigmentosum, Complementation Group F | 13 |
| Xeroderma Pigmentosum, Type 1 | 5 |
| Xeroderma Pigmentosum, Variant Type | 3 |
| XFE Progeroid Syndrome | 12 |
| Xia-Gibbs syndrome | 7 |
| Yao syndrome | 2 |
| Yoon-Bellen neurodevelopmental syndrome | 1 |
| You-Hoover-Fong syndrome | 3 |
| Young Simpson Syndrome | 7 |
| Yunis-Varon Syndrome | 14 |
| Zimmermann-Laband Syndrome 1 | 6 |
| Zimmermann-Laband syndrome 2 | 1 |
| Zimmermann-Laband syndrome 3 | 1 |
| Zinc deficiency, transient neonatal | 1 |
| ZTTK Syndrome | 5 |
| [?Hypertryptophanemia] | 1 |
| [?Phosphohydroxylysinuria] | 1 |
| [Blood group, EMM system] | 1 |
| [Blood group, Langereis system] | 2 |
| [Dysalbuminemic hyperthyroxinemia] | 1 |
| [Eculizumab, poor response to] | 1 |
| [Interleukin 6, serum level of, QTL] | 2 |
| [Interleukin-6 receptor, soluble, serum level of, QTL] | 2 |
| [Low density lipoprotein cholesterol level QTL 3] | 1 |
| [Maleylacetoacetate isomerase deficiency] | 3 |
| [Proteinuria, chronic benign] | 2 |
| [Sedoheptulokinase deficiency] | 1 |
| [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)] | 2 |
| [Skin/hair/eye pigmentation, variation in, 8] | 2 |
| [Uridine-cytidineuria] | 1 |
| {?Epidermodysplasia verruciformis, susceptibility to, 4} | 1 |
| {?Erythroleukemia, familial, susceptibility to} | 1 |
| {?Pancreatic cancer, susceptibility to, 5} | 2 |
| {?Schizophrenia susceptibility 18} | 1 |
| {?Thyroid cancer, nonmedullary, 5} | 1 |
| {Autism, susceptibility to, 20} | 1 |
| {Diabetes mellitus, noninsulin-dependent, 5} | 3 |
| {Efavirenz central nervous system toxicity, susceptibility to} | 1 |
| {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11} | 1 |
| {Encephalopathy, acute, infection-induced, susceptibility to, 9} | 1 |
| {Epilepsy, idiopathic generalized, susceptibility to, 15} | 2 |
| {Epilepsy, idiopathic generalized, susceptibility to, 16} | 5 |
| {Epilepsy, idiopathic generalized, susceptibility to, 17} | 2 |
| {Epilepsy, idiopathic generalized, susceptibility to, 18} | 1 |
| {Hydrocephalus, congenital, 5, susceptibility to} | 1 |
| {Parkinson disease 24, autosomal dominant, susceptibility to} | 3 |
| {Pregnancy loss, recurrent, susceptibility to, 1} | 3 |
| {Pregnancy loss, recurrent, susceptibility to, 2} | 1 |
| {Prostate cancer, hereditary, 2, susceptibility to} | 5 |
| {Prostate cancer, hereditary, 9} | 1 |
| {Renal dysplasia, cystic, susceptibility to} | 3 |
| {Rhabdomyolysis, susceptibility to, 1} | 1 |
| {Thiopurines, poor metabolism of, 2} | 1 |
| {Uveal melanoma, susceptibility to, 2} | 1 |
| {Warfarin sensitivity} | 1 |