TESTS BY DISEASE
Tests Found: 5714
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
18
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
8
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
2
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
5
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
8
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 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
6
Age-Related Macular Degeneration 1
7
Age-Related Macular Degeneration 11
1
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
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
16
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
10
Alzheimer's Disease 9, Susceptibility to
1
Alzheimer's Disease, Type 2
5
Alzheimer's Disease, Type 3
9
Alzheimer's Disease, Type 4
8
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
4
Aml - Acute Myeloid Leukemia
26
Amyloidogenic Transthyretin Amyloidosis
13
Amyloidosis, Finnish Type
5
Amyotrophic Lateral Sclerosis 16, Juvenile
5
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
6
Amyotrophic Lateral Sclerosis Type 1
5
Amyotrophic Lateral Sclerosis Type 10
6
Amyotrophic Lateral Sclerosis Type 11
10
Amyotrophic Lateral Sclerosis Type 12
5
Amyotrophic Lateral Sclerosis Type 14
6
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
10
ApoA-I and apoC-III deficiency, combined
5
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
2
Arthrogryposis multiplex congenita, myogenic type
2
Arthrogryposis multiplex congenita, neurogenic type
1
Arthrogryposis multiplex congenita, neurogenic, with myelin defect
2
Arthrogryposis Renal Dysfunction Cholestasis Syndrome
5
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
3
Arthrogryposis, Distal, Type 1B
4
Arthrogryposis, distal, type 1C
1
Arthrogryposis, Distal, Type 2B
12
Arthrogryposis, distal, type 2B2
3
Arthrogryposis, distal, type 2B3 (Sheldon-Hall)
5
Arthrogryposis, Distal, Type 3
5
Arthrogryposis, Distal, Type 5
5
Arthrogryposis, distal, type 5D
6
Arthrogryposis, Distal, Type 7
5
Arthrogryposis, Distal, Type 8
8
Arthrogryposis, Distal, with Impaired Proprioception and Touch
3
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
Ataxia With Vitamin E Deficiency
4
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
3
Ataxia, sensory, 1, autosomal dominant
2
Ataxia-Oculomotor Apraxia 3
3
Ataxia-oculomotor apraxia 4
4
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
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E
5
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
3
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
16
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
2
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
7
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
4
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
6
Brown-Vialetto-Van Laere syndrome 2
10
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
8
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
5
Cardiomyopathy, Dilated, 1Hh
6
Cardiomyopathy, dilated, 1II
6
Cardiomyopathy, dilated, 1JJ
5
Cardiomyopathy, Dilated, 1KK
8
Cardiomyopathy, dilated, 1NN
4
Cardiomyopathy, Dilated, 1U
2
Cardiomyopathy, Dilated, 1V
2
Cardiomyopathy, Dilated, 2B
4
Cardiomyopathy, dilated, 2C
6
Cardiomyopathy, dilated, 2E
1
Cardiomyopathy, dilated, 2G
3
Cardiomyopathy, Dilated, 3B
8
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
Carney Complex Variant
4
Carney Complex, Type 1
7
Carnitine Palmitoyltransferase I Deficiency
9
Carnitine Palmitoyltransferase II Deficiency, Infantile
13
Carnitine Palmitoyltransferase II Deficiency, Late-Onset
13
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
13
Carnitine-Acylcarnitine Translocase Deficiency
9
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
10
Cataract 39
5
Cataract 4
4
Cataract 41
8
Cataract 42
2
Cataract 43
1
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
5
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
6
Catel-Manzke Syndrome
4
CATSPER-Related Male Infertility
4
Caudal Duplication Anomaly
1
Cd59 Deficiency
4
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
2
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
3
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
16
Ceroid Lipofuscinosis Neuronal 1
12
Ceroid Lipofuscinosis Neuronal 10
10
Ceroid Lipofuscinosis Neuronal 11
9
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
6
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
10
Charcot-Marie-Tooth Disease Type 2D
8
Charcot-Marie-Tooth Disease Type 2E
6
Charcot-Marie-Tooth Disease Type 2F
6
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
2
Charcot-Marie-Tooth disease, axonal, type 2DD
4
Charcot-Marie-Tooth disease, axonal, type 2EE
6
Charcot-Marie-Tooth disease, axonal, type 2HH
2
Charcot-Marie-Tooth disease, axonal, type 2II
2
Charcot-Marie-Tooth Disease, Axonal, Type 2O
11
Charcot-Marie-Tooth disease, axonal, type 2T
2
Charcot-Marie-Tooth disease, axonal, type 2V
6
Charcot-Marie-Tooth disease, axonal, type 2W
5
Charcot-Marie-Tooth disease, axonal, type 2X
6
Charcot-Marie-Tooth disease, axonal, type 2Z
4
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
5
Charcot-Marie-Tooth disease, demyelinating, type 1G
1
Charcot-Marie-Tooth disease, demyelinating, type 1H
1
Charcot-Marie-Tooth disease, demyelinating, type 1I
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
4
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
3
Charcot-Marie-Tooth Disease, Type 2A2
12
Charcot-Marie-Tooth Disease, Type 2L
7
Charcot-Marie-Tooth Disease, Type 2N
8
Charcot-Marie-Tooth Disease, Type 2Q
6
Charcot-Marie-Tooth Disease, Type 2R
5
Charcot-Marie-Tooth Disease, Type 2S
4
Charcot-Marie-Tooth Disease, Type 2T
1
Charcot-Marie-Tooth Disease, Type 2U
7
Charcot-Marie-Tooth Disease, Type 2Y
7
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
6
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
5
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
3
CODAS syndrome
7
Coenzyme Q10 Deficiency
12
Coenzyme Q10 Deficiency, Primary, 2
9
Coenzyme Q10 deficiency, primary, 3
10
Coenzyme Q10 Deficiency, Primary, 4
7
Coenzyme Q10 Deficiency, Primary, 5
9
Coenzyme Q10 deficiency, primary, 6
8
Coenzyme Q10 Deficiency, Primary, 7
6
Coenzyme Q10 Deficiency, Primary, 8
3
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
8
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
3
Combined Oxidative Phosphorylation Deficiency 27
5
Combined oxidative phosphorylation deficiency 28
2
Combined oxidative phosphorylation deficiency 29
3
Combined Oxidative Phosphorylation Deficiency 3
9
Combined Oxidative Phosphorylation Deficiency 30
3
Combined oxidative phosphorylation deficiency 31
5
Combined oxidative phosphorylation deficiency 32
3
Combined oxidative phosphorylation deficiency 33
5
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 51
2
Combined oxidative phosphorylation deficiency 52
1
Combined oxidative phosphorylation deficiency 53
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
9
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
11
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
7
Congenital Disorder Of Glycosylation Type 1O
7
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
8
Congenital Disorder of Glycosylation Type Iu
8
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
8
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
3
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
4
Congenital myopathy 10B, mild variant
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
5
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
9
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
2
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
12
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
10
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
3
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
8
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase
7
Deficiency Of Butyryl-CoA Dehydrogenase
8
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
1
Developmental delay with or without dysmorphic facies and autism
2
Developmental delay with or without epilepsy
2
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
2
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
5
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
8
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
7
Dilated Cardiomyopathy 1M
3
Dilated Cardiomyopathy 1N
7
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
4
Distal Hereditary Motor Neuronopathy Type 2B
4
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
1
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
7
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
6
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
8
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
8
Emery-Dreifuss muscular dystrophy 3, AR
10
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
5
Emery-Dreifuss Muscular Dystrophy 7, AD
4
Emery-Dreifuss muscular dystrophy-6
5
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
8
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, 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
7
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
4
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
6
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
6
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
4
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
7
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
4
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
30
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
4
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
12
Familial Hypertrophic Cardiomyopathy 10
6
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
8
Familial Hypertrophic Cardiomyopathy 7
8
Familial Hypertrophic Cardiomyopathy 8
6
Familial Hypertrophic Cardiomyopathy 9
8
Familial Hypoalphalipoproteinemia
4
Familial Hypobetalipoproteinemia
5
Familial Hypokalemia-Hypomagnesemia
4
Familial Infantile Myasthenia
5
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
3
Familial Type 5 Hyperlipoproteinemia
3
Familial Visceral Amyloidosis, Ostertag Type
6
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
5
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
9
Fasting Plasma Glucose Level Quantitative Trait Locus 5
1
Fazio-Londe Disease
6
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
6
Fibrosis of extraocular muscles, congenital, 5
1
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
9
Friedreich's Ataxia
3
Frontometaphyseal Dysplasia
17
Frontometaphyseal Dysplasia 2
2
Frontonasal Dysplasia
5
Frontonasal Dysplasia 2
5
Frontonasal Dysplasia 3
2
Frontotemporal Dementia
9
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
7
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
9
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4
9
Frontotemporal Dementia, Ubiquitin-Positive
10
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
7
Gaucher Disease, Type 1
7
Gaucher Disease, Type II
7
Gaucher Disease, Type III
6
Gaucher Disease, Type IIIc
7
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
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
19
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
4
Glycogen Storage Disease Of Heart, Lethal Congenital
8
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
6
Glycogen Storage Disease Type V
6
Glycogen Storage Disease Type VI
4
Glycogen Storage Disease Type VII
7
Glycogen Storage Disease Type X
4
Glycogen Storage Disease Type XI
3
Glycogen Storage Disease Type XII
4
Glycogen Storage Disease Type XIII
3
Glycogen Storage Disease Type XV
4
Glycogen Storage DiseaseType IXb
5
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
8
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
4
Hereditary Angioneurotic Edema
4
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
1
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
1
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
5
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
7
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
2
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
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
4
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
4
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
2
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2
8
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 7, TCR-alpha/beta deficient
2
Immunodeficiency 70
2
Immunodeficiency 72 with autoinflammation
1
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
1
Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
1
Immunodeficiency 75
2
Immunodeficiency 76
1
Immunodeficiency 78 with autoimmunity and developmental delay
1
Immunodeficiency 8
3
Immunodeficiency 86, mycobacteriosis
1
Immunodeficiency 87 and autoimmunity
1
Immunodeficiency 94 with autoinflammation and dysmorphic facies
1
Immunodeficiency 95
1
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
11
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
3
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, 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
4
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
7
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
6
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
2
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
8
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
1
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
3
Leukoencephalopathy, Progressive, with Ovarian Failure
7
Leukonychia Totalis
1
Lewy Body Dementia
9
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
4
Limb-Girdle Muscular Dystrophy, Type 2A
4
Limb-Girdle Muscular Dystrophy, Type 2B
7
Limb-Girdle Muscular Dystrophy, Type 2D
5
Limb-Girdle Muscular Dystrophy, Type 2E
4
Limb-Girdle Muscular Dystrophy, Type 2F
6
Limb-Girdle Muscular Dystrophy, Type 2G
8
Limb-Girdle Muscular Dystrophy, Type 2H
8
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
4
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
9
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
12
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
6
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
4
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 Th
Tests Found: 5714
| 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 | 18 |
| 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 | 8 |
| 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 | 2 |
| 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 | 5 |
| 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 | 8 |
| 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 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 | 6 |
| Age-Related Macular Degeneration 1 | 7 |
| Age-Related Macular Degeneration 11 | 1 |
| 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 |
| 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 | 16 |
| 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 | 10 |
| Alzheimer's Disease 9, Susceptibility to | 1 |
| Alzheimer's Disease, Type 2 | 5 |
| Alzheimer's Disease, Type 3 | 9 |
| Alzheimer's Disease, Type 4 | 8 |
| 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 | 4 |
| Aml - Acute Myeloid Leukemia | 26 |
| Amyloidogenic Transthyretin Amyloidosis | 13 |
| Amyloidosis, Finnish Type | 5 |
| Amyotrophic Lateral Sclerosis 16, Juvenile | 5 |
| 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 | 6 |
| Amyotrophic Lateral Sclerosis Type 1 | 5 |
| Amyotrophic Lateral Sclerosis Type 10 | 6 |
| Amyotrophic Lateral Sclerosis Type 11 | 10 |
| Amyotrophic Lateral Sclerosis Type 12 | 5 |
| Amyotrophic Lateral Sclerosis Type 14 | 6 |
| 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 | 10 |
| ApoA-I and apoC-III deficiency, combined | 5 |
| 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 | 2 |
| Arthrogryposis multiplex congenita, myogenic type | 2 |
| Arthrogryposis multiplex congenita, neurogenic type | 1 |
| Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 2 |
| Arthrogryposis Renal Dysfunction Cholestasis Syndrome | 5 |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 3 |
| Arthrogryposis, Distal, Type 1B | 4 |
| Arthrogryposis, distal, type 1C | 1 |
| Arthrogryposis, Distal, Type 2B | 12 |
| Arthrogryposis, distal, type 2B2 | 3 |
| Arthrogryposis, distal, type 2B3 (Sheldon-Hall) | 5 |
| Arthrogryposis, Distal, Type 3 | 5 |
| Arthrogryposis, Distal, Type 5 | 5 |
| Arthrogryposis, distal, type 5D | 6 |
| Arthrogryposis, Distal, Type 7 | 5 |
| Arthrogryposis, Distal, Type 8 | 8 |
| Arthrogryposis, Distal, with Impaired Proprioception and Touch | 3 |
| 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 |
| Ataxia With Vitamin E Deficiency | 4 |
| Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 3 |
| Ataxia, sensory, 1, autosomal dominant | 2 |
| Ataxia-Oculomotor Apraxia 3 | 3 |
| Ataxia-oculomotor apraxia 4 | 4 |
| 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 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E | 5 |
| 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 | 3 |
| 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 | 16 |
| 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 | 2 |
| 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 | 7 |
| 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 | 4 |
| 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 | 6 |
| Brown-Vialetto-Van Laere syndrome 2 | 10 |
| 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 | 8 |
| 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 | 5 |
| Cardiomyopathy, Dilated, 1Hh | 6 |
| Cardiomyopathy, dilated, 1II | 6 |
| Cardiomyopathy, dilated, 1JJ | 5 |
| Cardiomyopathy, Dilated, 1KK | 8 |
| Cardiomyopathy, dilated, 1NN | 4 |
| Cardiomyopathy, Dilated, 1U | 2 |
| Cardiomyopathy, Dilated, 1V | 2 |
| Cardiomyopathy, Dilated, 2B | 4 |
| Cardiomyopathy, dilated, 2C | 6 |
| Cardiomyopathy, dilated, 2E | 1 |
| Cardiomyopathy, dilated, 2G | 3 |
| Cardiomyopathy, Dilated, 3B | 8 |
| 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 |
| Carney Complex Variant | 4 |
| Carney Complex, Type 1 | 7 |
| Carnitine Palmitoyltransferase I Deficiency | 9 |
| Carnitine Palmitoyltransferase II Deficiency, Infantile | 13 |
| Carnitine Palmitoyltransferase II Deficiency, Late-Onset | 13 |
| Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal | 13 |
| Carnitine-Acylcarnitine Translocase Deficiency | 9 |
| 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 | 10 |
| Cataract 39 | 5 |
| Cataract 4 | 4 |
| Cataract 41 | 8 |
| Cataract 42 | 2 |
| Cataract 43 | 1 |
| 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 | 5 |
| 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 | 6 |
| Catel-Manzke Syndrome | 4 |
| CATSPER-Related Male Infertility | 4 |
| Caudal Duplication Anomaly | 1 |
| Cd59 Deficiency | 4 |
| 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 | 2 |
| 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 | 3 |
| 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 | 16 |
| Ceroid Lipofuscinosis Neuronal 1 | 12 |
| Ceroid Lipofuscinosis Neuronal 10 | 10 |
| Ceroid Lipofuscinosis Neuronal 11 | 9 |
| 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 | 6 |
| 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 | 10 |
| Charcot-Marie-Tooth Disease Type 2D | 8 |
| Charcot-Marie-Tooth Disease Type 2E | 6 |
| Charcot-Marie-Tooth Disease Type 2F | 6 |
| 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 | 2 |
| Charcot-Marie-Tooth disease, axonal, type 2DD | 4 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 6 |
| Charcot-Marie-Tooth disease, axonal, type 2HH | 2 |
| Charcot-Marie-Tooth disease, axonal, type 2II | 2 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2O | 11 |
| Charcot-Marie-Tooth disease, axonal, type 2T | 2 |
| Charcot-Marie-Tooth disease, axonal, type 2V | 6 |
| Charcot-Marie-Tooth disease, axonal, type 2W | 5 |
| Charcot-Marie-Tooth disease, axonal, type 2X | 6 |
| Charcot-Marie-Tooth disease, axonal, type 2Z | 4 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive | 5 |
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 1 |
| Charcot-Marie-Tooth disease, demyelinating, type 1H | 1 |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | 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 | 4 |
| 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 | 3 |
| Charcot-Marie-Tooth Disease, Type 2A2 | 12 |
| Charcot-Marie-Tooth Disease, Type 2L | 7 |
| Charcot-Marie-Tooth Disease, Type 2N | 8 |
| Charcot-Marie-Tooth Disease, Type 2Q | 6 |
| Charcot-Marie-Tooth Disease, Type 2R | 5 |
| Charcot-Marie-Tooth Disease, Type 2S | 4 |
| Charcot-Marie-Tooth Disease, Type 2T | 1 |
| Charcot-Marie-Tooth Disease, Type 2U | 7 |
| Charcot-Marie-Tooth Disease, Type 2Y | 7 |
| 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 | 6 |
| 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 | 5 |
| 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 | 3 |
| CODAS syndrome | 7 |
| Coenzyme Q10 Deficiency | 12 |
| Coenzyme Q10 Deficiency, Primary, 2 | 9 |
| Coenzyme Q10 deficiency, primary, 3 | 10 |
| Coenzyme Q10 Deficiency, Primary, 4 | 7 |
| Coenzyme Q10 Deficiency, Primary, 5 | 9 |
| Coenzyme Q10 deficiency, primary, 6 | 8 |
| Coenzyme Q10 Deficiency, Primary, 7 | 6 |
| Coenzyme Q10 Deficiency, Primary, 8 | 3 |
| 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 | 8 |
| 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 | 3 |
| Combined Oxidative Phosphorylation Deficiency 27 | 5 |
| Combined oxidative phosphorylation deficiency 28 | 2 |
| Combined oxidative phosphorylation deficiency 29 | 3 |
| Combined Oxidative Phosphorylation Deficiency 3 | 9 |
| Combined Oxidative Phosphorylation Deficiency 30 | 3 |
| Combined oxidative phosphorylation deficiency 31 | 5 |
| Combined oxidative phosphorylation deficiency 32 | 3 |
| Combined oxidative phosphorylation deficiency 33 | 5 |
| 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 51 | 2 |
| Combined oxidative phosphorylation deficiency 52 | 1 |
| Combined oxidative phosphorylation deficiency 53 | 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 | 9 |
| 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 | 11 |
| 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 | 7 |
| Congenital Disorder Of Glycosylation Type 1O | 7 |
| 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 | 8 |
| Congenital Disorder of Glycosylation Type Iu | 8 |
| 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 | 8 |
| 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 | 3 |
| 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 | 4 |
| Congenital myopathy 10B, mild variant | 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 | 5 |
| 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 | 9 |
| 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 | 2 |
| 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 | 12 |
| 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 | 10 |
| 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 | 3 |
| 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 | 8 |
| Deficiency Of Aromatic-L-Amino-Acid Decarboxylase | 7 |
| Deficiency Of Butyryl-CoA Dehydrogenase | 8 |
| 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 | 1 |
| Developmental delay with or without dysmorphic facies and autism | 2 |
| Developmental delay with or without epilepsy | 2 |
| 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 | 2 |
| 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 | 5 |
| 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 | 8 |
| 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 | 7 |
| Dilated Cardiomyopathy 1M | 3 |
| Dilated Cardiomyopathy 1N | 7 |
| 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 | 4 |
| Distal Hereditary Motor Neuronopathy Type 2B | 4 |
| 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 | 1 |
| 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 | 7 |
| 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 | 6 |
| 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 | 8 |
| 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 | 8 |
| Emery-Dreifuss muscular dystrophy 3, AR | 10 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant | 5 |
| Emery-Dreifuss Muscular Dystrophy 7, AD | 4 |
| Emery-Dreifuss muscular dystrophy-6 | 5 |
| 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 | 8 |
| 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, 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 | 7 |
| 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 | 4 |
| 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 | 6 |
| 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 | 6 |
| 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 | 4 |
| 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 | 7 |
| 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 | 4 |
| 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 | 30 |
| 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 | 4 |
| 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 | 12 |
| Familial Hypertrophic Cardiomyopathy 10 | 6 |
| 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 | 8 |
| Familial Hypertrophic Cardiomyopathy 7 | 8 |
| Familial Hypertrophic Cardiomyopathy 8 | 6 |
| Familial Hypertrophic Cardiomyopathy 9 | 8 |
| Familial Hypoalphalipoproteinemia | 4 |
| Familial Hypobetalipoproteinemia | 5 |
| Familial Hypokalemia-Hypomagnesemia | 4 |
| Familial Infantile Myasthenia | 5 |
| 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 | 3 |
| Familial Type 5 Hyperlipoproteinemia | 3 |
| Familial Visceral Amyloidosis, Ostertag Type | 6 |
| 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 | 5 |
| 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 | 9 |
| Fasting Plasma Glucose Level Quantitative Trait Locus 5 | 1 |
| Fazio-Londe Disease | 6 |
| 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 | 6 |
| Fibrosis of extraocular muscles, congenital, 5 | 1 |
| 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 | 9 |
| Friedreich's Ataxia | 3 |
| Frontometaphyseal Dysplasia | 17 |
| Frontometaphyseal Dysplasia 2 | 2 |
| Frontonasal Dysplasia | 5 |
| Frontonasal Dysplasia 2 | 5 |
| Frontonasal Dysplasia 3 | 2 |
| Frontotemporal Dementia | 9 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis | 4 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 7 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 | 9 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 | 9 |
| Frontotemporal Dementia, Ubiquitin-Positive | 10 |
| 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 | 7 |
| Gaucher Disease, Type 1 | 7 |
| Gaucher Disease, Type II | 7 |
| Gaucher Disease, Type III | 6 |
| Gaucher Disease, Type IIIc | 7 |
| 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 |
| 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 | 19 |
| 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 | 4 |
| Glycogen Storage Disease Of Heart, Lethal Congenital | 8 |
| 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 | 6 |
| Glycogen Storage Disease Type V | 6 |
| Glycogen Storage Disease Type VI | 4 |
| Glycogen Storage Disease Type VII | 7 |
| Glycogen Storage Disease Type X | 4 |
| Glycogen Storage Disease Type XI | 3 |
| Glycogen Storage Disease Type XII | 4 |
| Glycogen Storage Disease Type XIII | 3 |
| Glycogen Storage Disease Type XV | 4 |
| Glycogen Storage DiseaseType IXb | 5 |
| 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 | 8 |
| 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 | 4 |
| Hereditary Angioneurotic Edema | 4 |
| Hereditary Cerebral Amyloid Angiopathy, Icelandic Type | 1 |
| 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 | 1 |
| 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 | 5 |
| 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 | 7 |
| 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 | 2 |
| 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 |
| 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 | 4 |
| 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 | 4 |
| 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 | 2 |
| Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 | 8 |
| 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 7, TCR-alpha/beta deficient | 2 |
| Immunodeficiency 70 | 2 |
| Immunodeficiency 72 with autoinflammation | 1 |
| Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia | 1 |
| Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia | 1 |
| Immunodeficiency 75 | 2 |
| Immunodeficiency 76 | 1 |
| Immunodeficiency 78 with autoimmunity and developmental delay | 1 |
| Immunodeficiency 8 | 3 |
| Immunodeficiency 86, mycobacteriosis | 1 |
| Immunodeficiency 87 and autoimmunity | 1 |
| Immunodeficiency 94 with autoinflammation and dysmorphic facies | 1 |
| Immunodeficiency 95 | 1 |
| 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 | 11 |
| 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 | 3 |
| 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, 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 | 4 |
| 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 | 7 |
| 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 | 6 |
| 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 | 2 |
| 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 | 8 |
| 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 | 1 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 3 |
| Leukoencephalopathy, Progressive, with Ovarian Failure | 7 |
| Leukonychia Totalis | 1 |
| Lewy Body Dementia | 9 |
| 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 | 4 |
| Limb-Girdle Muscular Dystrophy, Type 2A | 4 |
| Limb-Girdle Muscular Dystrophy, Type 2B | 7 |
| Limb-Girdle Muscular Dystrophy, Type 2D | 5 |
| Limb-Girdle Muscular Dystrophy, Type 2E | 4 |
| Limb-Girdle Muscular Dystrophy, Type 2F | 6 |
| Limb-Girdle Muscular Dystrophy, Type 2G | 8 |
| Limb-Girdle Muscular Dystrophy, Type 2H | 8 |
| 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 | 4 |
| 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 | 9 |
| Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | 12 |
| 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 | 6 |
| 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 | 4 |
| 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 Th |