3-beta-hydroxysteroid dehydrogenase, type II, deficiency	3-beta-hydroxysteroid dehydrogenase
3-methylglutaconic aciduria, type I	3-methylglutaconic aciduria
3-methylglutaconicaciduria, type III	3-methylglutaconicaciduria
AFP deficiency, congenital	AFP deficiency
AIDS, resistance to	AIDS
AMP deaminase deficiency, erythrocytic	AMP deaminase deficiency
Acanthocytosis, one form	Acanthocytosis
Achondrogenesis-hypochondrogenesis, type II	Achondrogenesis-hypochondrogenesis
Achromatopsia-1	Achromatopsia
Achromatopsia-2	Achromatopsia
Achromatopsia-3	Achromatopsia
Acrodermatitis enteropathica, zinc-deficiency type	Acrodermatitis enteropathica
Acromegaloid features, overgrowth, cleft palate, and hernia	Acromegaloid features
Acromesomelic dysplasia, Hunter-Thompson type	Acromesomelic dysplasia
Acromesomelic dysplasia, Maroteaux type	Acromesomelic dysplasia
Acyl-CoA dehydrogenase, long chain, deficiency of	Acyl-CoA dehydrogenase
Acyl-CoA dehydrogenase, medium chain, deficiency of	Acyl-CoA dehydrogenase
Acyl-CoA dehydrogenase, short-chain, deficiency of	Acyl-CoA dehydrogenase
Adenocarcinoma of lung, somatic	Adenocarcinoma of lung
Adenoma, periampullary	Adenoma
Adenomas, multiple colorectal	Adenomas
Adenomatous polyposis coli, attenuated	Adenomatous polyposis coli
Adhalinopathy, primary	Adhalinopathy
Adrenal adenoma, sporadic	Adrenal adenoma
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	Adrenal hyperplasia
Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	Adrenal hyperplasia
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Adrenal hyperplasia
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism	Adrenal hypoplasia
Adrenocortical carcinoma, hereditary	Adrenocortical carcinoma
Adrenoleukodystrophy, neonatal	Adrenoleukodystrophy
Adrenoleukodystrophy, pseudoneonatal	Adrenoleukodystrophy
Advanced sleep phase syndrome, familial	Advanced sleep phase syndrome
Afibrinogenemia, congenital	Afibrinogenemia
Agammaglobulinemia, autosomal recessive	Agammaglobulinemia
Agammaglobulinemia, type 1, X-linked	Agammaglobulinemia
Agammaglobulinemia, type 2, X-linked	Agammaglobulinemia
Aicardi-Goutieres syndrome 1	Aicardi-Goutieres syndrome
Albinism, brown	Albinism
Albinism, brown oculocutaneous,	Albinism
Albinism, ocular, autosomal recessive	Albinism
Albinism, oculocutaneous, type IA	Albinism
Albinism, oculocutaneous, type IB	Albinism
Albinism, oculocutaneous, type II	Albinism
Albinism, rufous	Albinism
Alcohol intolerance, acute	Alcohol intolerance
Alcoholism, susceptibility to	Alcoholism
Aldosteronism, glucocorticoid-remediable	Aldosteronism
Alpha-thalassemia/mental retardation syndrome, type 1	Alpha-thalassemia/mental retardation syndrome
Alport syndrome, autosomal recessive	Alport syndrome
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis	Alport syndrome
Alzheimer disease 6	Alzheimer disease
Alzheimer disease, familial, with spastic paraparesis and unusual plaques	Alzheimer disease
Alzheimer disease, susceptibility to	Alzheimer disease
Alzheimer disease-1, APP-related	Alzheimer disease
Alzheimer disease-2, late onset	Alzheimer disease
Alzheimer disease-3	Alzheimer disease
Alzheimer disease-3, early onset	Alzheimer disease
Alzheimer disease-4	Alzheimer disease
Alzheimer disease-5	Alzheimer disease
Amelogenesis imperfecta 2, hypoplastic local	Amelogenesis imperfecta
Amelogenesis imperfecta-2, hypoplastic local type	Amelogenesis imperfecta
Amyloid neuropathy, familial, several allelic types	Amyloid neuropathy
Amyloidosis, 3 or more types	Amyloidosis
Amyloidosis, Finnish type	Amyloidosis
Amyloidosis, cerebroarterial, Dutch type	Amyloidosis
Amyloidosis, hereditary renal	Amyloidosis
Amyloidosis, renal	Amyloidosis
Amyloidosis, secondary, susceptibility to	Amyloidosis
Amyloidosis, senile systemic	Amyloidosis
Amyotrophic lateral sclerosis, juvenile	Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis, susceptibility to	Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis-4, juvenile dominant	Amyotrophic lateral sclerosis
Amytrophic lateral sclerosis, due to SOD1 deficiency	Amytrophic lateral sclerosis
Amytrophic lateral sclerosis-5, juvenile recessive	Amytrophic lateral sclerosis
Anemia, Diamond-Blackfan	Anemia
Anemia, congenital dyserythropoietic, type I	Anemia
Anemia, hemolytic, Rh-null, regulator type	Anemia
Anemia, hemolytic, due to PK deficiency	Anemia
Anemia, hemolytic, due to UMPH1 deficiency	Anemia
Anemia, neonatal hemolytic, fatal and near-fatal	Anemia
Anemia, pernicious, congenital, due to deficiency of intrinsic factor	Anemia
Anemia, sideroblastic, with ataxia	Anemia
Anemia, sideroblastic/hypochromic	Anemia
Aneurysm, familial arterial	Aneurysm
Aneurysm, intracranial berry	Aneurysm
Angioedema, hereditary	Angioedema
Angiofibroma, sporadic	Angiofibroma
Angioneurotic edema, hereditary, X-linked	Angioneurotic edema
Aniridia, type II	Aniridia
Anophthalmia 3	Anophthalmia
Anorexia nervosa, susceptibility to	Anorexia nervosa
Aortic aneurysm, familial thoracic 1	Aortic aneurysm
Aortic aneurysm, familial thoracic 2	Aortic aneurysm
Apnea, postanesthetic	Apnea
ApoA-I and apoC-III deficiency, combined	ApoA-I and apoC-III deficiency
Apparent mineralocorticoid excess, hypertension due to	Apparent mineralocorticoid excess
Arrhythmogenic right ventricular dysplasia 2	Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia 8	Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia-1	Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia-2	Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia-3	Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia-4	Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia-5	Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia-6	Arrhythmogenic right ventricular dysplasia
Arthritis, familial recurrent	Arthritis
Arthrogryposis multiplex congenita, distal, type 1	Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita, distal, type 2B	Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita, neurogenic	Arthrogryposis multiplex congenita
Arthrogryposis, X-linked (spinal muscular atrophy, infantile, X-linked)	Arthrogryposis
Arthropathy, progressive pseudorheumatoid, of childhood	Arthropathy
Asthma and atopy, susceptibility to	Asthma and atopy
Asthma, atopic, susceptibility to	Asthma
Asthma, nocturnal, susceptibility to	Asthma
Asthma, susceptibility to	Asthma
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Ataxia
Ataxia, episodic	Ataxia
Atherosclerosis, susceptibility to	Atherosclerosis
Atopy, susceptibility to	Atopy
Atrial fibrillation, familial	Atrial fibrillation
Atrial septal defect, secundum type	Atrial septal defect
Atrioventricular block, idiopathic second-degree	Atrioventricular block
Attention-deficit hyperactivity disorder, susceptibility to	Attention-deficit hyperactivity disorder
Autism, X-linked	Autism
Autism, succinylpurinemic	Autism
Autism, susceptibility to	Autism
Autism, susceptibility to, 3	Autism
Autoimmune lymphoproliferative syndrome, type II	Autoimmune lymphoproliferative syndrome
Autoimmune polyglandular disease, type I	Autoimmune polyglandular disease
Azoospremia, nonobstructive	Azoospremia
B-cell non-Hodgkin lymphoma, high-grade	B-cell non-Hodgkin lymphoma
BCG and salmonella infection, disseminated	BCG and salmonella infection
BCG infection, generalized familial	BCG infection
Bardet-Biedl syndrome 1	Bardet-Biedl syndrome
Bardet-Biedl syndrome 2	Bardet-Biedl syndrome
Bardet-Biedl syndrome 3	Bardet-Biedl syndrome
Bardet-Biedl syndrome 4	Bardet-Biedl syndrome
Bardet-Biedl syndrome 5	Bardet-Biedl syndrome
Bardet-Biedl syndrome 6	Bardet-Biedl syndrome
Bare lymphocyte syndrome, type I	Bare lymphocyte syndrome
Bare lymphocyte syndrome, type I, due to TAP2 deficiency	Bare lymphocyte syndrome
Bare lymphocyte syndrome, type II, complementation group C	Bare lymphocyte syndrome
Bare lymphocyte syndrome, type II, complementation group D	Bare lymphocyte syndrome
Bare lymphocyte syndrome, type II, complementation group E	Bare lymphocyte syndrome
Bartter syndrome, antenatal	Bartter syndrome
Bartter syndrome, infantile, with sensorineural deafness	Bartter syndrome
Basal cell carcinoma, somatic	Basal cell carcinoma
Basal cell carcinoma, sporadic	Basal cell carcinoma
Basal ganglia calcification, idiopathic	Basal ganglia calcification
Basal ganglia disease, adult-onset	Basal ganglia disease
Benzene toxicity, susceptibility to	Benzene toxicity
Berardinelli-Seip congenital lipodystrophy-1	Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip congenital lipodystrophy-2	Berardinelli-Seip congenital lipodystrophy
Bernard-Soulier syndrome, type B	Bernard-Soulier syndrome
Bernard-Soulier syndrome, type C	Bernard-Soulier syndrome
Beryllium disease, chronic, susceptibility to	Beryllium disease
Bile acid malabsorption, primary	Bile acid malabsorption
Bleeding disorder, east Texas type	Bleeding disorder
Blepharophimosis, epicanthus inversus, and ptosis, type 1	Blepharophimosis
Blepharophimosis, epicanthus inversus, and ptosis, type 2	Blepharophimosis
Blepharospasm, primary benign	Blepharospasm
Bone mineral density variability 1	Bone mineral density variability
Bone mineral density variability 3	Bone mineral density variability
Bone mineral density variation 2	Bone mineral density variation
Brachydactyly, type A1	Brachydactyly
Brachydactyly, type B1	Brachydactyly
Brachydactyly, type C	Brachydactyly
Branchiootic syndrome 2	Branchiootic syndrome
Breast cancer 2, early onset	Breast cancer
Breast cancer, 11:22 translocation associated	Breast cancer
Breast cancer, ductal	Breast cancer
Breast cancer, early-onset	Breast cancer
Breast cancer, invasive intraductal	Breast cancer
Breast cancer, lobular	Breast cancer
Breast cancer, male, susceptibility to	Breast cancer
Breast cancer, male, with Reifenstein syndrome	Breast cancer
Breast cancer, somatic	Breast cancer
Breast cancer, sporadic	Breast cancer
Breast cancer, susceptibility to	Breast cancer
Breast cancer-1	Breast cancer
Bulimia nervosa, susceptibility to	Bulimia nervosa
Butterfly dystrophy, retinal	Butterfly dystrophy
C1q deficiency, type A	C1q deficiency
C1q deficiency, type B	C1q deficiency
C1q deficiency, type C	C1q deficiency
C1r/C1s deficiency, combined	C1r/C1s deficiency
C1s deficiency, isolated	C1s deficiency
C8 deficiency, type I	C8 deficiency
C8 deficiency, type II	C8 deficiency
CD3, zeta chain, deficiency	CD
CPT deficiency, hepatic, type IA	CPT deficiency
CPT deficiency, hepatic, type II	CPT deficiency
Cafe-au-lait spots, multiple, with leukemia	Cafe-au-lait spots
Candidiasis, familial chronic mucocutaneous, autosomal dominant, with thyroid disease	Candidiasis
Capillary malformations, hereditary	Capillary malformations
Carbohydrate-deficient glycoprotein syndrome, type I	Carbohydrate-deficient glycoprotein syndrome
Carbohydrate-deficient glycoprotein syndrome, type II	Carbohydrate-deficient glycoprotein syndrome
Carbohydrate-deficient glycoprotein syndrome, type Ib	Carbohydrate-deficient glycoprotein syndrome
Carcinoid tumors, intestinal	Carcinoid tumors
Cardiac valvular dysplasia-1	Cardiac valvular dysplasia
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	Cardioencephalomyopathy
Cardiomopathy, hypertrophic, mid-ventricular chamber type	Cardiomopathy
Cardiomyopathy, X-linked dilated	Cardiomyopathy
Cardiomyopathy, dilated	Cardiomyopathy
Cardiomyopathy, dilated 1C	Cardiomyopathy
Cardiomyopathy, dilated, 1A	Cardiomyopathy
Cardiomyopathy, dilated, 1D	Cardiomyopathy
Cardiomyopathy, dilated, 1E	Cardiomyopathy
Cardiomyopathy, dilated, 1F	Cardiomyopathy
Cardiomyopathy, dilated, 1G, 604145, Tibial muscular dystrophy, tardive	Cardiomyopathy
Cardiomyopathy, dilated, 1H	Cardiomyopathy
Cardiomyopathy, dilated, 1I	Cardiomyopathy
Cardiomyopathy, dilated, 1J	Cardiomyopathy
Cardiomyopathy, dilated, 1K	Cardiomyopathy
Cardiomyopathy, dilated, 1L	Cardiomyopathy
Cardiomyopathy, dilated, 1M	Cardiomyopathy
Cardiomyopathy, dilated, 1N	Cardiomyopathy
Cardiomyopathy, dilated, X-linked	Cardiomyopathy
Cardiomyopathy, familial dilated 1B	Cardiomyopathy
Cardiomyopathy, familial hypertrophic	Cardiomyopathy
Cardiomyopathy, familial hypertrophic with Wolff-Parkinson-White syndrome	Cardiomyopathy
Cardiomyopathy, familial hypertrophic, 1	Cardiomyopathy
Cardiomyopathy, familial hypertrophic, 2	Cardiomyopathy
Cardiomyopathy, familial hypertrophic, 3	Cardiomyopathy
Cardiomyopathy, familial hypertrophic, 4	Cardiomyopathy
Cardiomyopathy, familial hypertrophic, 9	Cardiomyopathy
Cardiomyopathy, hypertrophic, early-onset fatal	Cardiomyopathy
Cardiomyopathy, hypertrophic, mid-left ventricular chamber type	Cardiomyopathy
Cardiomyopathy, hypertrophic, midventricular, digenic	Cardiomyopathy
Cardiomyopathy, hypertrophic, with WPW	Cardiomyopathy
Carney complex, type 1	Carney complex
Carney complex, type II	Carney complex
Carnitine deficiency, systemic primary	Carnitine deficiency
Carpal tunnel syndrome, familial	Carpal tunnel syndrome
Cataract, Coppock-like	Cataract
Cataract, Marner type	Cataract
Cataract, anterior polar-2	Cataract
Cataract, autosomal recessive, early-onset, pulverulent	Cataract
Cataract, central saccular, with sutural opacities	Cataract
Cataract, cerulean, type 1	Cataract
Cataract, cerulean, type 2	Cataract
Cataract, congenital	Cataract
Cataract, congenital progressive, autosomal recessive	Cataract
Cataract, congenital zonular, with sutural opacities	Cataract
Cataract, congenital, Volkmann type	Cataract
Cataract, congenital, with late-onset corneal dystrophy	Cataract
Cataract, congenital, with microphthalmia	Cataract
Cataract, cortical pulverulent, late-onset	Cataract
Cataract, crystalline aculeiform	Cataract
Cataract, juvenile-onset	Cataract
Cataract, lamellar	Cataract
Cataract, nuclear progressive	Cataract
Cataract, polymorphic and lamellar	Cataract
Cataract, polymorphic congenital	Cataract
Cataract, posterior polar	Cataract
Cataract, posterior polar 2	Cataract
Cataract, posterior polar-3	Cataract
Cataract, sutural, with punctate and cerulean opacities	Cataract
Cataract, variable zonular pulverulent	Cataract
Cataract, zonular central nuclear, autosomal dominant	Cataract
Cataract, zonular pulverulent-1	Cataract
Cataract, zonular pulverulent-3	Cataract
Cataracts, punctate, progressive juvenile-onset	Cataracts
Central core disease, one form	Central core disease
Central hypoventilation syndrome, congenital	Central hypoventilation syndrome
Cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities	Cerebellar ataxia with mental retardation
Cerebellar ataxia, Cayman type	Cerebellar ataxia
Cerebellar ataxia, autosomal dominant, FGF14-related	Cerebellar ataxia
Cerebellar ataxia, pure	Cerebellar ataxia
Cerebellar ataxia-2	Cerebellar ataxia
Cerebral cavernous malformations-1	Cerebral cavernous malformations
Cerebral cavernous malformations-2	Cerebral cavernous malformations
Cerebral cavernous malformations-3	Cerebral cavernous malformations
Cerebral palsy, ataxic, autosomal recessive	Cerebral palsy
Cerebrovascular disease, occlusive	Cerebrovascular disease
Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits	Ceroid lipofuscinosis
Ceroid lipofuscinosis, neuronal-1, infantile	Ceroid lipofuscinosis
Ceroid-lipofuscinosis, neuronal 2, classic late infantile	Ceroid-lipofuscinosis
Ceroid-lipofuscinosis, neuronal-3, juvenile	Ceroid-lipofuscinosis
Ceroid-lipofuscinosis, neuronal-5, variant late infantile	Ceroid-lipofuscinosis
Ceroid-lipofuscinosis, neuronal-6, variant late infantile	Ceroid-lipofuscinosis
Cervical cancer, somatic	Cervical cancer
Charcot-Marie-Tooth disease, dominant intermediate 1	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 1	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 1C	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 2B	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 2B1	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 2B2	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 2E	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 2F	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 4B	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 4B, form 2	Charcot-Marie-Tooth disease
Charcot-Marie-Tooth neuropathy, X-linked-1, dominant	Charcot-Marie-Tooth neuropathy
Charcot-Marie-Tooth neuropathy, X-linked-2, recessive	Charcot-Marie-Tooth neuropathy
Charcot-Marie-Tooth neuropathy, demyelinating	Charcot-Marie-Tooth neuropathy
Charcot-Marie-Tooth neuropathy, type 2A	Charcot-Marie-Tooth neuropathy
Charcot-Marie-Tooth neuropathy, type 2D	Charcot-Marie-Tooth neuropathy
Cholestasis, benign recurrent intrahepatic	Cholestasis
Cholestasis, familial intrahepatic, of pregnancy	Cholestasis
Cholestasis, progressive familial intrahepatic, type III	Cholestasis
Cholestasis, progressive familial intrahepatic-1	Cholestasis
Chondrocalcinosis 2	Chondrocalcinosis
Chondrodysplasia punctata, X-linked dominant	Chondrodysplasia punctata
Chondrodysplasia punctata, X-linked recessive	Chondrodysplasia punctata
Chondrodysplasia punctata, rhizomelic, type 2	Chondrodysplasia punctata
Chondrodysplasia, Grebe type	Chondrodysplasia
Chondrosarcoma, extraskeletal myxoid	Chondrosarcoma
Chorea, hereditary benign	Chorea
Choreoathetosis, familial paroxysmal	Choreoathetosis
Choreoathetosis/spasticity, episodic	Choreoathetosis/spasticity
Chorioretinal atrophy, progressive bifocal	Chorioretinal atrophy
Choroidal dystrophy, central areolar	Choroidal dystrophy
Chronic granulomatous disease due to deficiency of NCF-1	Chronic granulomatous disease due to deficiency of NCF
Chronic granulomatous disease due to deficiency of NCF-2	Chronic granulomatous disease due to deficiency of NCF
Chronic granulomatous disease, X-linked	Chronic granulomatous disease
Chronic granulomatous disease, autosomal, due to deficiency of CYBA	Chronic granulomatous disease
Chronic infections, due to opsonin defect	Chronic infections
Chylomicronemia syndrome, familial	Chylomicronemia syndrome
Ciliary diskinesia, primary, 2	Ciliary diskinesia
Cirrhosis, North American Indian childhood type	Cirrhosis
Cirrhosis, cryptogenic	Cirrhosis
Citrullinemia, adult-onset type II	Citrullinemia
Citrullinemia, type II, neonatal-onset	Citrullinemia
Cleft palate, X-linked	Cleft palate
Cleft palate, isolated	Cleft palate
Cockayne syndrome-1	Cockayne syndrome
Cockayne syndrome-2, type B	Cockayne syndrome
Cold-induced autoinflammatory syndrome, familial	Cold-induced autoinflammatory syndrome
Coloboma, ocular	Coloboma
Colon cancer, advanced	Colon cancer
Colon cancer, hereditary nonpolypopsis	Colon cancer
Colon cancer, somatic	Colon cancer
Colonic aganglionosis, total, with small bowel involvement	Colonic aganglionosis
Colorblindness, deutan	Colorblindness
Colorblindness, protan	Colorblindness
Colorblindness, tritan	Colorblindness
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 2	Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 3	Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 4	Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 5	Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 6	Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 7	Colorectal cancer
Colorectal cancer, resistance to	Colorectal cancer
Colorectal cancer, somatic	Colorectal cancer
Colorectal cancer, susceptibility to	Colorectal cancer
Combined hyperlipemia, familial	Combined hyperlipemia
Combined immunodeficiency, X-linked, moderate	Combined immunodeficiency
Cone dystrophy, progressive	Cone dystrophy
Cone dystrophy, progressive X-linked, 2	Cone dystrophy
Cone dystrophy-1	Cone dystrophy
Cone dystrophy-3	Cone dystrophy
Cone-rod dystrophy 3	Cone-rod dystrophy
Cone-rod dystrophy 6	Cone-rod dystrophy
Cone-rod dystrophy 8	Cone-rod dystrophy
Cone-rod dystrophy-7	Cone-rod dystrophy
Cone-rod retinal dystrophy-1	Cone-rod retinal dystrophy
Cone-rod retinal dystrophy-2	Cone-rod retinal dystrophy
Congenital anomalies, susceptibility to	Congenital anomalies
Congenital cataract, facial dysmorphism, and neuropathy syndrome	Congenital cataract
Congenital disorder of glycosylation, type IIc	Congenital disorder of glycosylation
Congenital disorder of glycosylation, type IId	Congenital disorder of glycosylation
Congenital disorder of glycosylation, type Ic	Congenital disorder of glycosylation
Congenital disorder of glycosylation, type Id	Congenital disorder of glycosylation
Congenital disorder of glycosylation, type Ig	Congenital disorder of glycosylation
Congenital hereditary endothelial dystrophy of cornea, autosomal dominant	Congenital hereditary endothelial dystrophy of cornea
Congenital hereditary endothelial dystrophy of cornea, autosomal recessive	Congenital hereditary endothelial dystrophy of cornea
Congestive heart failure, susceptibility to	Congestive heart failure
Conjunctivitis, ligneous	Conjunctivitis
Contractural arachnodactyly, congenital	Contractural arachnodactyly
Convulsions, benign familial infantile	Convulsions
Convulsions, benign familial infantile, 2	Convulsions
Convulsions, benign familial infantile, 3	Convulsions
Convulsions, familial febrile, 1	Convulsions
Convulsions, familial febrile, 2	Convulsions
Convulsions, familial febrile, 3	Convulsions
Convulsions, familial febrile, 4	Convulsions
Convulsions, infantile and paroxysmal choreoathetosis	Convulsions
Cornea plana congenita, recessive	Cornea plana congenita
Corneal clouding, autosomal recessive	Corneal clouding
Corneal dystrophy and perceptive deafness 1	Corneal dystrophy and perceptive deafness
Corneal dystrophy, Avellino type	Corneal dystrophy
Corneal dystrophy, Groenouw type I	Corneal dystrophy
Corneal dystrophy, Reis-Bucklers type	Corneal dystrophy
Corneal dystrophy, Thiel-Behnke type	Corneal dystrophy
Corneal dystrophy, crystalline, Schnyder	Corneal dystrophy
Corneal dystrophy, gelatinous drop-like	Corneal dystrophy
Corneal dystrophy, hereditary polymorphous posterior	Corneal dystrophy
Corneal dystrophy, lattice type I	Corneal dystrophy
Corneal dystrophy, lattice type IIIA	Corneal dystrophy
Coronary artery disease, susceptibility to	Coronary artery disease
Coronary artery spasm, susceptibility to	Coronary artery spasm
Coronary heart disease, susceptibility to	Coronary heart disease
Coronary spasm, susceptibility to	Coronary spasm
Cramps, familial, potassium-aggravated	Cramps
Craniometaphyseal dysplasia, autosomal recessive	Craniometaphyseal dysplasia
Craniosynostosis, Adelaide type	Craniosynostosis
Craniosynostosis, nonspecific	Craniosynostosis
Craniosynostosis, type 1	Craniosynostosis
Craniosynostosis, type 2	Craniosynostosis
Creatine deficiency syndrome, X-linked	Creatine deficiency syndrome
Creatine kinase, brain type, ectopic expression of	Creatine kinase
Creatine phosphokinase, elevated serum	Creatine phosphokinase
Creutzfeldt-Jakob disease, variant, resistance to	Creutzfeldt-Jakob disease
Crigler-Najjar syndrome, type I	Crigler-Najjar syndrome
Crigler-Najjar syndrome, type II	Crigler-Najjar syndrome
Cryptorchidism, idiopathic	Cryptorchidism
Cutis laxa, autosomal recessive	Cutis laxa
Cutis laxa, neonatal	Cutis laxa
Cutis laxa, recessive, type I	Cutis laxa
Cylindromatosis, familial	Cylindromatosis
Cystinosis, atypical nephropathic	Cystinosis
Cystinosis, late-onset juvenile or adolescent nephropathic	Cystinosis
Cystinosis, nephropathic	Cystinosis
Cystinosis, ocular nonnephropathic	Cystinosis
Cystinuria, type II	Cystinuria
Cystinuria, type III	Cystinuria
Deafness autosomal dominant 26	Deafness autosomal dominant
Deafness, X-linked 1, progressive	Deafness
Deafness, X-linked 2, perceptive congenital	Deafness
Deafness, X-linked 3, conductive, with stapes fixation	Deafness
Deafness, X-linked 4, congenital sensorineural	Deafness
Deafness, X-linked 6, sensorineural	Deafness
Deafness, autosomal dominant 1	Deafness
Deafness, autosomal dominant 10	Deafness
Deafness, autosomal dominant 11, neurosensory	Deafness
Deafness, autosomal dominant 12	Deafness
Deafness, autosomal dominant 13	Deafness
Deafness, autosomal dominant 15	Deafness
Deafness, autosomal dominant 16	Deafness
Deafness, autosomal dominant 17	Deafness
Deafness, autosomal dominant 18	Deafness
Deafness, autosomal dominant 2	Deafness
Deafness, autosomal dominant 20	Deafness
Deafness, autosomal dominant 22	Deafness
Deafness, autosomal dominant 23	Deafness
Deafness, autosomal dominant 24	Deafness
Deafness, autosomal dominant 25	Deafness
Deafness, autosomal dominant 3	Deafness
Deafness, autosomal dominant 30	Deafness
Deafness, autosomal dominant 36	Deafness
Deafness, autosomal dominant 4	Deafness
Deafness, autosomal dominant 40	Deafness
Deafness, autosomal dominant 44	Deafness
Deafness, autosomal dominant 5	Deafness
Deafness, autosomal dominant 7	Deafness
Deafness, autosomal dominant 8	Deafness
Deafness, autosomal dominant 9	Deafness
Deafness, autosomal dominant, with peripheral neuropathy	Deafness
Deafness, autosomal recessive	Deafness
Deafness, autosomal recessive 1	Deafness
Deafness, autosomal recessive 10, congenital	Deafness
Deafness, autosomal recessive 12	Deafness
Deafness, autosomal recessive 13	Deafness
Deafness, autosomal recessive 14	Deafness
Deafness, autosomal recessive 15	Deafness
Deafness, autosomal recessive 16	Deafness
Deafness, autosomal recessive 17	Deafness
Deafness, autosomal recessive 18	Deafness
Deafness, autosomal recessive 2, neurosensory	Deafness
Deafness, autosomal recessive 20	Deafness
Deafness, autosomal recessive 21	Deafness
Deafness, autosomal recessive 22	Deafness
Deafness, autosomal recessive 26	Deafness
Deafness, autosomal recessive 27	Deafness
Deafness, autosomal recessive 29	Deafness
Deafness, autosomal recessive 3	Deafness
Deafness, autosomal recessive 30	Deafness
Deafness, autosomal recessive 31	Deafness
Deafness, autosomal recessive 33	Deafness
Deafness, autosomal recessive 4	Deafness
Deafness, autosomal recessive 5	Deafness
Deafness, autosomal recessive 6	Deafness
Deafness, autosomal recessive 7	Deafness
Deafness, autosomal recessive 8, childhood onset	Deafness
Deafness, autosomal recessive 9	Deafness
Deafness, congenital heart defects, and posterior embryotoxon	Deafness
Deafness, nonsyndromic neurosensory, digenic	Deafness
Deafness, nonsyndromic, modifier 1	Deafness
Deafness, sensorineural, autosomal-mitochondrial	Deafness
Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema	Dehydrated hereditary stomatocytosis
Dejerine-Sottas disease, myelin P-zero-related	Dejerine-Sottas disease
Dejerine-Sottas neuropathy, autosomal recessive	Dejerine-Sottas neuropathy
Dementia, Pick disease-like	Dementia
Dementia, familial British	Dementia
Dementia, familial Danish	Dementia
Dementia, familial, nonspecific	Dementia
Dementia, frontotemporal	Dementia
Dementia, frontotemporal, with parkinsonism	Dementia
Dental anomalies, isolated	Dental anomalies
Dentin dysplasia, type II	Dentin dysplasia
Dentinogenesis imperfecta-1	Dentinogenesis imperfecta
Dermatitis, atopic	Dermatitis
Desmoid disease, hereditary	Desmoid disease
DiGeorge syndrome/velocardiofacial syndrome complex-2	DiGeorge syndrome/velocardiofacial syndrome complex
Diabetes insipidus, nephrogenic	Diabetes insipidus
Diabetes insipidus, nephrogenic, autosomal dominant	Diabetes insipidus
Diabetes insipidus, nephrogenic, autosomal recessive	Diabetes insipidus
Diabetes insipidus, neurohypophyseal	Diabetes insipidus
Diabetes mellitus, insulin-dependent	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 10	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 11	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 12	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 13	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 15	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 17	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 18	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 2	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 3	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 4	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 5	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 6	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 7	Diabetes mellitus
Diabetes mellitus, insulin-dependent, 8	Diabetes mellitus
Diabetes mellitus, insulin-dependent, X-linked	Diabetes mellitus
Diabetes mellitus, insulin-dependent-1	Diabetes mellitus
Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Diabetes mellitus
Diabetes mellitus, insulin-resistant, with acanthosis nigricans and hypertension	Diabetes mellitus
Diabetes mellitus, neonatal-onset	Diabetes mellitus
Diabetes mellitus, non-insulin dependent, 1	Diabetes mellitus
Diabetes mellitus, noninsulin-dependent	Diabetes mellitus
Diabetes mellitus, noninsulin-dependent, 2	Diabetes mellitus
Diabetes mellitus, rare form	Diabetes mellitus
Diabetes mellitus, transient neonatal	Diabetes mellitus
Diabetes mellitus, type II, susceptibility to	Diabetes mellitus
Diastrophic dysplasia, broad bone-platyspondylic variant	Diastrophic dysplasia
Diphtheria, susceptibility to	Diphtheria
Dopamine-beta-hydroxylase activity levels, plasma	Dopamine-beta-hydroxylase activity levels
Drug addiction, susceptibility to	Drug addiction
Duane retraction syndrome 2	Duane retraction syndrome
Dysautonomia, familial	Dysautonomia
Dyserythropoietic anemia with thrombocytopenia, 300367Macrothrombocytopenia	Dyserythropoietic anemia with thrombocytopenia
Dyserythropoietic anemia, congenital, type III	Dyserythropoietic anemia
Dysfibrinogenemia, alpha type, causing bleeding diathesis	Dysfibrinogenemia
Dysfibrinogenemia, alpha type, causing recurrent thrombosis	Dysfibrinogenemia
Dysfibrinogenemia, beta type	Dysfibrinogenemia
Dysfibrinogenemia, gamma type	Dysfibrinogenemia
Dyskeratosis congenita, autosomal dominant	Dyskeratosis congenita
Dyskeratosis congenita-1	Dyskeratosis congenita
Dyskeratosis, hereditary benign intraepithelial	Dyskeratosis
Dyslexia, specific, 2	Dyslexia
Dyslexia, specific, 3	Dyslexia
Dyslexia, specific, 5	Dyslexia
Dyslexia-1	Dyslexia
Dyssegmental dysplasia, Silverman-Handmaker type	Dyssegmental dysplasia
Dystonia, DOPA-responsive	Dystonia
Dystonia, early-onset atypical, with myoclonic features	Dystonia
Dystonia, myoclonic	Dystonia
Dystonia, primary cervical	Dystonia
Dystonia-1, torsion	Dystonia
Dystonia-12	Dystonia
Dystonia-3, torsion, with parkinsonism, Filipino type	Dystonia
Dystonia-6, torsion	Dystonia
Dystonia-7, torsion	Dystonia
EBD, Bart type	EBD
EBD, localisata variant	EBD
Earwax, wet/dry	Earwax
Ectodermal dysplasia 2, hidrotic	Ectodermal dysplasia
Ectodermal dysplasia, Margarita Island type	Ectodermal dysplasia
Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency	Ectodermal dysplasia
Ectodermal dysplasia, hypohidrotic, autosomal dominant	Ectodermal dysplasia
Ectodermal dysplasia, hypohidrotic, autosomal recessive	Ectodermal dysplasia
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal dysplasia
Ectodermal dysplasia-1, anhidrotic	Ectodermal dysplasia
Ectopia lentis, familial	Ectopia lentis
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	Ectrodactyly
Ectrodactyly, ectodermal dysplasia, cleft lip/palate-2	Ectrodactyly
Ehlers-Danlos syndrome, progeroid form	Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, type I	Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, type II	Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, type III	Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, type IV	Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, type VI	Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, type VII	Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, type VIIA2	Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, type VIIC	Ehlers-Danlos syndrome
Elliptocytosis, Malaysian-Melanesian type	Elliptocytosis
Elliptocytosis-1	Elliptocytosis
Elliptocytosis-2	Elliptocytosis
Elliptocytosis-3	Elliptocytosis
Emery-Dreifuss muscular dystrophy, AD	Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy, AR	Emery-Dreifuss muscular dystrophy
Encephalopathy, familial, with neuroserpin inclusion bodies	Encephalopathy
Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency	Encephalopathy
Enchondromatosis, Ollier type	Enchondromatosis
Endocardial fibroelastosis-2	Endocardial fibroelastosis
Enuresis, nocturnal, 1	Enuresis
Enuresis, nocturnal, 2	Enuresis
Eosinophilia, familial	Eosinophilia
Epidermolysis bullosa dystrophica, AD	Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica, AR	Epidermolysis bullosa dystrophica
Epidermolysis bullosa inversa, junctional	Epidermolysis bullosa inversa
Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760	Epidermolysis bullosa simplex
Epidermolysis bullosa simplex, Ogna type	Epidermolysis bullosa simplex
Epidermolysis bullosa simplex, recessive	Epidermolysis bullosa simplex
Epidermolysis bullosa, Herlitz junctional type	Epidermolysis bullosa
Epidermolysis bullosa, generalized atrophic benign	Epidermolysis bullosa
Epidermolysis bullosa, junctional, Herlitz type	Epidermolysis bullosa
Epidermolysis bullosa, junctional, with pyloric atresia	Epidermolysis bullosa
Epidermolysis bullosa, junctional, with pyloric stenosis	Epidermolysis bullosa
Epidermolysis bullosa, pretibial	Epidermolysis bullosa
Epilepsy, benign neonatal, type 2	Epilepsy
Epilepsy, benign, neonatal, type 1	Epilepsy
Epilepsy, childhood absence	Epilepsy
Epilepsy, childhood absence, 1	Epilepsy
Epilepsy, female restricted, with mental retardation	Epilepsy
Epilepsy, generalized idiopathic	Epilepsy
Epilepsy, generalized, idiopathic	Epilepsy
Epilepsy, generalized, with febrile seizures plus	Epilepsy
Epilepsy, generalized, with febrile seizures plus, type 2	Epilepsy
Epilepsy, idiopathic generalized, susceptibility to	Epilepsy
Epilepsy, juvenile absence	Epilepsy
Epilepsy, juvenile myoclonic	Epilepsy
Epilepsy, myoclonic, Lafora type	Epilepsy
Epilepsy, myoclonic, benign adult familial	Epilepsy
Epilepsy, myoclonic, infantile	Epilepsy
Epilepsy, nocturnal frontal lobe, 1	Epilepsy
Epilepsy, nocturnal frontal lobe, 3	Epilepsy
Epilepsy, nocturnal frontal lobe, type 2	Epilepsy
Epilepsy, partial, with auditory features	Epilepsy
Epilepsy, partial, with pericentral spikes	Epilepsy
Epilepsy, partial, with variable foci	Epilepsy
Epilepsy, progressive myoclonic 1	Epilepsy
Epilepsy, progressive, with mental retardation	Epilepsy
Epilepsy, pyridoxine-dependent	Epilepsy
Epiphyseal dysplasia, multiple	Epiphyseal dysplasia
Epiphyseal dysplasia, multiple 1	Epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 3	Epiphyseal dysplasia
Epiphyseal dysplasia, multiple, 5	Epiphyseal dysplasia
Epiphyseal dysplasia, multiple, COL9A1-related	Epiphyseal dysplasia
Epiphyseal dysplasia, multiple, type 2	Epiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopathy	Epiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness	Epiphyseal dysplasia
Episodic ataxia, type 2	Episodic ataxia
Episodic muscle weakness, X-linked	Episodic muscle weakness
Epithelioma, self-healing, squamous 1, Ferguson-Smith type	Epithelioma
Erythermalgia, primary	Erythermalgia
Erythremias, alpha-	Erythremias
Erythremias, beta-	Erythremias
Erythrocytosis, familial	Erythrocytosis
Erythrokeratoderma, progressive symmetric	Erythrokeratoderma
Esophageal carcinoma, somatic	Esophageal carcinoma
Exostoses, multiple, type 1	Exostoses
Exostoses, multiple, type 2	Exostoses
Exostoses, multiple, type 3	Exostoses
Exudative vitreoretinopathy, X-linked	Exudative vitreoretinopathy
Exudative vitreoretinopathy-3	Exudative vitreoretinopathy
Eye anomalies, multiplex	Eye anomalies
Eye color, brown	Eye color
FG syndrome 4	FG syndrome
Fanconi anemia, complementation group A	Fanconi anemia
Fanconi anemia, complementation group B	Fanconi anemia
Fanconi anemia, complementation group C	Fanconi anemia
Fanconi anemia, complementation group D1	Fanconi anemia
Fanconi anemia, complementation group D2	Fanconi anemia
Fanconi anemia, complementation group E	Fanconi anemia
Fanconi anemia, complementation group F	Fanconi anemia
Fanconi anemia, complementation group G	Fanconi anemia
Fatty liver, acute, of pregnancy	Fatty liver
Fibrocalculous pancreatic diabetes, susceptibility to	Fibrocalculous pancreatic diabetes
Fibromatosis, gingival	Fibromatosis
Fibromatosis, gingival, 2	Fibromatosis
Fibrosis of extraocular muscles, congenital, 1	Fibrosis of extraocular muscles
Fibrosis of extraocular muscles, congenital, 2	Fibrosis of extraocular muscles
Fibrosis of extraocular muscles, congenital, 3	Fibrosis of extraocular muscles
Fibrosis of extraocular muscles, congenital, 3A	Fibrosis of extraocular muscles
Fibrosis, congenital, of vertically acting extraocular muscles	Fibrosis
Fluorouracil toxicity, sensitivity to	Fluorouracil toxicity
Focal cortical dysplasia, Taylor balloon cell type	Focal cortical dysplasia
Foveal hypoplasia, isolated	Foveal hypoplasia
Foveomacular dystrophy, adult-onset, with choroidal neovascularization	Foveomacular dystrophy
GM2-gangliosidosis, AB variant	GM2-gangliosidosis
GM2-gangliosidosis, several forms	GM2-gangliosidosis
Gamma-glutamyltransferase, familial high serum	Gamma-glutamyltransferase
Gastric cancer, familial diffuse	Gastric cancer
Gastric cancer, somatic	Gastric cancer
Gaucher disease, variant form	Gaucher disease
Gaze palsy, horizontal, with progressive scoliosis	Gaze palsy
Giant axonal neuropathy-1	Giant axonal neuropathy
Giant cell hepatitis, neonatal	Giant cell hepatitis
Giant platelet disorder, isolated	Giant platelet disorder
Glanzmann thrombasthenia, type A	Glanzmann thrombasthenia
Glanzmann thrombasthenia, type B	Glanzmann thrombasthenia
Glaucoma 1A, primary open angle, juvenile-onset	Glaucoma 1A
Glaucoma 1A, primary open angle, recessive	Glaucoma 1A
Glaucoma 1B, primary open angle, adult onset	Glaucoma 1B
Glaucoma 1C, primary open angle	Glaucoma 1C
Glaucoma 1D, primary open angle	Glaucoma 1D
Glaucoma 1E, primary open angle, adult-onset	Glaucoma 1E
Glaucoma 3, primary infantile, B	Glaucoma
Glaucoma 3A, primary congenital	Glaucoma 3A
Glaucoma, early-onset, digenic	Glaucoma
Glaucoma, normal tension, susceptibility to	Glaucoma
Glioblastoma multiforme, somatic	Glioblastoma multiforme
Glioblastoma, early-onset	Glioblastoma
Glioblastoma, somatic	Glioblastoma
Glioblastoma, susceptibility to	Glioblastoma
Gliosis, familial progressive subcortical	Gliosis
Glomerulocystic kidney disease, hypoplastic	Glomerulocystic kidney disease
Glomerulopathy, fibronectin	Glomerulopathy
Glomerulosclerosis, focal segmental, 1	Glomerulosclerosis
Glomerulosclerosis, focal segmental, 2	Glomerulosclerosis
Glucocorticoid deficiency 2	Glucocorticoid deficiency
Glucocorticoid deficiency, due to ACTH unresponsiveness	Glucocorticoid deficiency
Glucose transport defect, blood-brain barrier	Glucose transport defect
Glutaricaciduria, type I	Glutaricaciduria
Glutaricaciduria, type IIA	Glutaricaciduria
Glutaricaciduria, type IIB	Glutaricaciduria
Glutaricaciduria, type IIC	Glutaricaciduria
Gluten-sensitive enteropathy, susceptibility to	Gluten-sensitive enteropathy
Glycogen storage disease, type 0	Glycogen storage disease
Glycogenosis, X-linked hepatic, type I	Glycogenosis
Glycogenosis, X-linked hepatic, type II	Glycogenosis
Glycogenosis, hepatic, autosomal	Glycogenosis
Goiter, adolescent multinodular	Goiter
Goiter, congenital	Goiter
Goiter, familial, due to TTF-1 defect	Goiter
Goiter, multinodular, 1	Goiter
Goiter, multinodular, 2	Goiter
Goiter, multinodular, 3	Goiter
Goiter, nonendemic, simple	Goiter
Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy	Gonadal dysgenesis
Gonadal dysgenesis, XY female type	Gonadal dysgenesis
Gonadal dysgenesis, XY type	Gonadal dysgenesis
Graves disease, susceptibility to, 2	Graves disease
Graves disease, susceptibility to, 3	Graves disease
Graves disease, susceptibility to, X-linked	Graves disease
Griscelli syndrome, type 1	Griscelli syndrome
Griscelli syndrome, type 2	Griscelli syndrome
Gynecomastia, familial, due to increased aromatase activity	Gynecomastia
Gyrate atrophy of choroid and retina with ornithinemia, B6 responsive or unresponsive	Gyrate atrophy of choroid and retina with ornithinemia
H. pylori infection, susceptibility to	H. pylori infection
HDL cholesterol level QTL 1	HDL cholesterol level QTL
HDL deficiency, familial	HDL deficiency
HDL response to hormone replacement, augmented	HDL response to hormone replacement
HELLP syndrome, maternal, of pregnancy	HELLP syndrome
HIV infection, susceptibility/resistance to	HIV infection
HIV infection, susceptibility/resistence to	HIV infection
HIV-1 disease, delayed progression of	HIV-1 disease
HIV-1 disease, rapid progression of	HIV-1 disease
HPFH, deletion type	HPFH
HPFH, nondeletion type A	HPFH
HPFH, nondeletion type G	HPFH
Hair color, brown	Hair color
Hair color, red	Hair color
Hearing loss, low-frequency sensorineural	Hearing loss
Heart block, nonprogressive	Heart block
Heart block, progressive familial, type I	Heart block
Heart block, progressive, type I	Heart block
Heinz body anemias, alpha-	Heinz body anemias
Heinz body anemias, beta-	Heinz body anemias
Hemangioblastoma, cerebellar, somatic	Hemangioblastoma
Hemangioma, capillary infantile	Hemangioma
Hemangioma, capillary infantile, somatic	Hemangioma
Hematopoiesis, cyclic	Hematopoiesis
Hematuria, familial benign	Hematuria
Hemiplegic migraine, familial	Hemiplegic migraine
Hemochromatosis, juvenile	Hemochromatosis
Hemochromatosis, type 2A	Hemochromatosis
Hemochromatosis, type 3	Hemochromatosis
Hemochromatosis, type 4	Hemochromatosis
Hemophagocytic lymphohistiocytosis, familial, 1	Hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistiocytosis, familial, 2	Hemophagocytic lymphohistiocytosis
Hemosiderosis, systemic, due to aceruloplasminemia	Hemosiderosis
Hepatic failure, early onset, and neurologic disorder	Hepatic failure
Hepatocellular carcinoma, childhood type	Hepatocellular carcinoma
Hereditary hemorrhagic telangiectasia-1	Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia-2	Hereditary hemorrhagic telangiectasia
Hereditary persistence of fetal hemoglobin, heterocellular	Hereditary persistence of fetal hemoglobin
Heterocellular hereditary persistence of fetal hemoglobin, Swiss type	Heterocellular hereditary persistence of fetal hemoglobin
Heterotaxy, X-linked visceral	Heterotaxy
Heterotaxy, visceral	Heterotaxy
Heterotopia, periventricular	Heterotopia
Hip dysplasia, Beukes type	Hip dysplasia
Hirschsprung disease, cardiac defects, and autonomic dysfunction	Hirschsprung disease
Hirschsprung disease, short-segment, 2	Hirschsprung disease
Hirschsprung disease, short-segment, 3	Hirschsprung disease
Hirschsprung disease-2	Hirschsprung disease
Hodgkin disease susceptibility, pseudoautosomal	Hodgkin disease susceptibility
Holoprosencephaly-1	Holoprosencephaly
Holoprosencephaly-2	Holoprosencephaly
Holoprosencephaly-3	Holoprosencephaly
Holoprosencephaly-4	Holoprosencephaly
Holoprosencephaly-5	Holoprosencephaly
Holoprosencephaly-6	Holoprosencephaly
Holoprosencephaly-7	Holoprosencephaly
Homocystinuria, B6-responsive and nonresponsive types	Homocystinuria
Homocystinuria-megaloblastic anemia, cbl E type	Homocystinuria-megaloblastic anemia
Homosexuality, male	Homosexuality
Huntington disease-like 1	Huntington disease-like
Huntington disease-like 2	Huntington disease-like
Huntington disease-like 3	Huntington disease-like
Hydrops fetalis, one form	Hydrops fetalis
Hyperaldosteronism, familial, type II	Hyperaldosteronism
Hyperbilirubinemia, familial transcient neonatal	Hyperbilirubinemia
Hypercalciuria, absorptive	Hypercalciuria
Hypercalciuria, absorptive, susceptibility to	Hypercalciuria
Hypercalciuric hypercalcemia, type III	Hypercalciuric hypercalcemia
Hypercholesterolemia, due to ligand-defective apo B	Hypercholesterolemia
Hypercholesterolemia, familial	Hypercholesterolemia
Hypercholesterolemia, familial, 3	Hypercholesterolemia
Hypercholesterolemia, familial, autosomal recessive	Hypercholesterolemia
Hypercholesterolemia, familial, modification of	Hypercholesterolemia
Hyperinsulinism, familial	Hyperinsulinism
Hyperlipidemia, combined, 2	Hyperlipidemia
Hyperlipidemia, familial combined, 1	Hyperlipidemia
Hyperlipoproteinemia, type III	Hyperlipoproteinemia
Hyperlipoproteinemia, type Ib	Hyperlipoproteinemia
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency	Hypermethioninemia
Hyperostosis, endosteal	Hyperostosis
Hyperoxaluria, primary, type 1	Hyperoxaluria
Hyperoxaluria, primary, type II	Hyperoxaluria
Hyperparathyroidism, AD	Hyperparathyroidism
Hyperparathyroidism, familial primary	Hyperparathyroidism
Hyperparathyroidism, neonatal	Hyperparathyroidism
Hyperphenylalaninemia, mild	Hyperphenylalaninemia
Hyperprolinemia, type I	Hyperprolinemia
Hyperprolinemia, type II	Hyperprolinemia
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	Hypertension
Hypertension, essential	Hypertension
Hypertension, essential, salt-sensitive	Hypertension
Hypertension, essential, susceptibility to	Hypertension
Hypertension, essential, susceptibility to, 1	Hypertension
Hypertension, essential, susceptibility to, 2	Hypertension
Hypertension, mild low-renin	Hypertension
Hypertension, susceptibility to	Hypertension
Hyperthroidism, congenital	Hyperthroidism
Hyperthyroidism, congenital	Hyperthyroidism
Hypertrichosis, congenital generalized	Hypertrichosis
Hypertriglyceridemia, one form	Hypertriglyceridemia
Hypertriglyceridemia, susceptibility to	Hypertriglyceridemia
Hypertrypsinemia, neonatal	Hypertrypsinemia
Hyperuricemic nephropathy, familial juvenile	Hyperuricemic nephropathy
Hypoaldosteronism, congenital, due to CMO I deficiency	Hypoaldosteronism
Hypoaldosteronism, congenital, due to CMO II deficiency	Hypoaldosteronism
Hypoalphalipoproteinemia, primary	Hypoalphalipoproteinemia
Hypobetalipoproteinemia, familial, 2	Hypobetalipoproteinemia
Hypocalcemia, autosomal dominant	Hypocalcemia
Hypocalcemia, autosomal dominant, with Bartter syndrome	Hypocalcemia
Hypocalciuric hypercalcemia, type I	Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia, type II	Hypocalciuric hypercalcemia
Hypoceruloplasminemia, hereditary	Hypoceruloplasminemia
Hypodontia, autosomal dominant	Hypodontia
Hypodontia, autosomal recessive	Hypodontia
Hypofibrinogenemia, gamma type	Hypofibrinogenemia
Hypogonadism, hypergonadotropic	Hypogonadism
Hypolactasia, adult type	Hypolactasia
Hypomagnesemia, primary	Hypomagnesemia
Hypomagnesemia-2, renal	Hypomagnesemia
Hypomyelination, congenital	Hypomyelination
Hypoparathyroidism, X-linked	Hypoparathyroidism
Hypoparathyroidism, autosomal dominant	Hypoparathyroidism
Hypoparathyroidism, autosomal recessive	Hypoparathyroidism
Hypoparathyroidism, familial	Hypoparathyroidism
Hypoparathyroidism, sensorineural deafness, and renal dysplasia	Hypoparathyroidism
Hypophosphatasia, adult	Hypophosphatasia
Hypophosphatasia, childhood	Hypophosphatasia
Hypophosphatasia, infantile	Hypophosphatasia
Hypophosphatemia, hereditary	Hypophosphatemia
Hypophosphatemia, type III	Hypophosphatemia
Hypophosphatemic rickets, autosomal dominant	Hypophosphatemic rickets
Hypothyroidism, congenital	Hypothyroidism
Hypothyroidism, congenital, due to DUOX2 deficiency	Hypothyroidism
Hypothyroidism, congenital, due to TSH resistance	Hypothyroidism
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	Hypothyroidism
Hypothyroidism, hereditary congenital	Hypothyroidism
Hypothyroidism, nongoitrous	Hypothyroidism
Hypothyroidism, subclinical	Hypothyroidism
Hypotrichosis, Marie Unna type	Hypotrichosis
Hypotrichosis, congential, with juvenile macular dystrophy	Hypotrichosis
Hypouricemia, renal	Hypouricemia
Ichthyosiform erythroderma, congenital	Ichthyosiform erythroderma
Ichthyosiform erythroderma, congenital, nonbullous, 1	Ichthyosiform erythroderma
Ichthyosis histrix, Curth-Macklin type	Ichthyosis histrix
Ichthyosis, X-linked	Ichthyosis
Ichthyosis, cyclic, with epidermolytic hyperkeratosis	Ichthyosis
Ichthyosis, lamellar, 5	Ichthyosis
Ichthyosis, lamellar, autosomal recessive	Ichthyosis
Ichthyosis, lamellar, type 2	Ichthyosis
Ichthyosis, lamellar, type 3	Ichthyosis
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	Ichthyosis
Ichthyosis, nonlamellar and nonerythrodermic, congenital	Ichthyosis
IgG receptor I, phagocytic, familial deficiency of	IgG receptor I
IgG2 deficiency, selective	IgG2 deficiency
Immunodeficiency with hyper-IgM, type 2	Immunodeficiency with hyper-IgM
Immunodeficiency with hyper-IgM, type 3	Immunodeficiency with hyper-IgM
Immunodeficiency, T-cell receptor/CD3 complex	Immunodeficiency
Immunodeficiency, X-linked, with hyper-IgM	Immunodeficiency
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	Immunodysregulation
Inclusion body myopathy, autosomal recessive	Inclusion body myopathy
Inclusion body myopathy-3	Inclusion body myopathy
Incontinentia pigmenti, type II	Incontinentia pigmenti
Infantile spasm syndrome, X-linked	Infantile spasm syndrome
Inflammatory bowel disease-2	Inflammatory bowel disease
Inflammatory bowel disease-3	Inflammatory bowel disease
Inflammatory bowel disease-4	Inflammatory bowel disease
Inflammatory bowel disease-5	Inflammatory bowel disease
Inflammatory bowel disease-6	Inflammatory bowel disease
Inflammatory bowel disease-7	Inflammatory bowel disease
Inflammatory bowel disease-8	Inflammatory bowel disease
Insensitivity to pain, congenital, with anhidrosis	Insensitivity to pain
Insomnia, fatal familial	Insomnia
Insulin resistance, severe, digenic	Insulin resistance
Insulin resistance, susceptibility to	Insulin resistance
Interferon, alpha, deficiency	Interferon
Interferon, immune, deficiency	Interferon
Interleukin-2 receptor, alpha chain, deficiency of	Interleukin-2 receptor
Intervertebral disc disease, susceptibility to	Intervertebral disc disease
Intestinal pseudoobstruction, neuronal, X-linked	Intestinal pseudoobstruction
Iridogoniodysgenesis syndrome-2	Iridogoniodysgenesis syndrome
Iron deficiency anemia, susceptibility to	Iron deficiency anemia
Iron overload, autosomal dominant	Iron overload
Isolated growth hormone deficiency, Illig type with absent GH and Kowarski type with bioinactive GH	Isolated growth hormone deficiency
Joubert syndrome-1	Joubert syndrome
Kallmann syndrome 2	Kallmann syndrome
Kaposi sarcoma, susceptibility to	Kaposi sarcoma
Kenny-Caffey syndrome-1	Kenny-Caffey syndrome
Keratoderma, palmoplantar, with deafness	Keratoderma
Larsen syndrome, autosomal dominant	Larsen syndrome
Lead poisoning, susceptibility to	Lead poisoning
Leber congenital amaurosis, type I	Leber congenital amaurosis
Leber congenital amaurosis-2	Leber congenital amaurosis
Left ventricular noncompaction, familial isolated	Left ventricular noncompaction
Leigh syndrome, French-Canadian type	Leigh syndrome
Leigh syndrome, due to COX deficiency	Leigh syndrome
Leiomyomatosis, diffuse, with Alport syndrome	Leiomyomatosis
Leprosy, paucibacillary type, susceptibility to	Leprosy
Leprosy, susceptibility to	Leprosy
Leukemia, Philadelphia chromosome-positive, resistant to imatinib	Leukemia
Leukemia, T-cell acute lymphoblastic	Leukemia
Leukemia, T-cell acute lymphoblastoid	Leukemia
Leukemia, T-cell acute lymphocytic	Leukemia
Leukemia, acute T-cell	Leukemia
Leukemia, acute T-cell lymphoblastic	Leukemia
Leukemia, acute lymphoblastic	Leukemia
Leukemia, acute myeloblastic	Leukemia
Leukemia, acute myelogenous	Leukemia
Leukemia, acute myeloid	Leukemia
Leukemia, acute myeloid, M2 type	Leukemia
Leukemia, acute myeloid, reduced survival in	Leukemia
Leukemia, acute myeloid, therapy-related	Leukemia
Leukemia, acute myeloid, with eosinophilia	Leukemia
Leukemia, acute myelomonocytic	Leukemia
Leukemia, acute nonlymphocytic	Leukemia
Leukemia, acute pre-B-cell	Leukemia
Leukemia, acute promyelocytic	Leukemia
Leukemia, acute promyelocytic, NPM/RARA type	Leukemia
Leukemia, acute promyelocytic, NUMA/RARA type	Leukemia
Leukemia, acute promyelocytic, PL2F/RARA type	Leukemia
Leukemia, acute promyelocytic, PML/RARA type	Leukemia
Leukemia, acute promyeloyctic, STAT5B/RARA type	Leukemia
Leukemia, chronic lymphatic, susceptibility to	Leukemia
Leukemia, chronic lymphocytic, B-cell	Leukemia
Leukemia, chronic myeloid, Leukemia, acute lymphocytic	Leukemia
Leukemia, juvenile myelomonocytic	Leukemia
Leukemia, lymphycytic, acute T-cell	Leukemia
Leukemia, megakaryoglastic, of Down syndrome	Leukemia
Leukemia, myeloid	Leukemia
Leukemia, myeloid, acute	Leukemia
Leukemia, myeloid/lymphoid or mixed-lineage	Leukemia
Leukemia, post-chemotherapy, susceptibility to	Leukemia
Leukemia, transient, of Down syndrome	Leukemia
Leukemia-1, T-cell acute lymphocytic	Leukemia
Leukemia-2, T-cell acute lymphoblastic	Leukemia
Leukemia/lymphoma, B-cell, 1	Leukemia/lymphoma
Leukemia/lymphoma, B-cell, 2	Leukemia/lymphoma
Leukemia/lymphoma, B-cell, 3	Leukemia/lymphoma
Leukemia/lymphoma, T-cell	Leukemia/lymphoma
Leydig cell adenoma, with precocious puberty	Leydig cell adenoma
Lipodystrophy, familial partial	Lipodystrophy
Lipodystrophy, familial partial, with decreased subcutaneous fat of face and neck	Lipodystrophy
Lipoma, sporadic	Lipoma
Lipomatosis, mutiple	Lipomatosis
Lissencephaly syndrome, Norman-Roberts type	Lissencephaly syndrome
Lissencephaly, X-linked	Lissencephaly
Lissencephaly, X-linked with ambiguous genitalia	Lissencephaly
Lissencephaly-1	Lissencephaly
Listeria monocytogenes, susceptibility to	Listeria monocytogenes
Liver disease, susceptibility to, from hepatotoxins or viruses	Liver disease
Long QT syndrome 4	Long QT syndrome
Long QT syndrome-1	Long QT syndrome
Long QT syndrome-2	Long QT syndrome
Long QT syndrome-3	Long QT syndrome
Long QT syndrome-5	Long QT syndrome
Long QT syndrome-6	Long QT syndrome
Long QT syndrome-7	Long QT syndrome
Low renin hypertension, susceptibility to	Low renin hypertension
Lower motor neuron disease, progressive, without sensory symptoms	Lower motor neuron disease
Lupus erythematosus, susceptibility to	Lupus erythematosus
Lupus erythematosus, systemic, susceptibility	Lupus erythematosus
Lupus nephritis, susceptibility to	Lupus nephritis
Lymphangioleiomyomatosis, somatic	Lymphangioleiomyomatosis
Lymphedema, hereditary I	Lymphedema
Lymphedema, hereditary II	Lymphedema
Lymphocytic leukemia, acute T-cell	Lymphocytic leukemia
Lymphoma, B-cell	Lymphoma
Lymphoma, B-cell non-Hodgkin, somatic	Lymphoma
Lymphoma, MALT	Lymphoma
Lymphoma, T-cell	Lymphoma
Lymphoma, diffuse large B-cell	Lymphoma
Lymphoma, diffuse large cell	Lymphoma
Lymphoma, follicular	Lymphoma
Lymphoma, mantle cell	Lymphoma
Lymphoma, non-Hodgkin	Lymphoma
Lymphoma, progression of	Lymphoma
Lymphoma, somatic	Lymphoma
Lymphoma/leukemia, B-cell, variant	Lymphoma/leukemia
Lymphoproliferative syndrome, X-linked	Lymphoproliferative syndrome
MHC class II deficiency, complementation group A	MHC class II deficiency
MHC class II deficiency, complementation group B	MHC class II deficiency
MODY, one form	MODY
MODY, type I	MODY
MODY, type II	MODY
MODY, type III	MODY
MODY, type IV	MODY
MODY, type V	MODY
Macrocytic anemia, refractory, of 5q- syndrome	Macrocytic anemia
Macular degeneration, X-linked atrophic	Macular degeneration
Macular degeneration, age-related, 1	Macular degeneration
Macular dystrophy, North Carolina type	Macular dystrophy
Macular dystrophy, age-related, 2	Macular dystrophy
Macular dystrophy, atypical vitelliform	Macular dystrophy
Macular dystrophy, autosomal dominant, chromosome 6-linked	Macular dystrophy
Macular dystrophy, dominant cystoid	Macular dystrophy
Macular dystrophy, vitelliform	Macular dystrophy
Macular dystrophy, vitelliform type	Macular dystrophy
Maculopathy, 'bull's-eye'	Maculopathy
Malaria, cerebral, reduced risk of	Malaria
Malaria, cerebral, susceptibility to	Malaria
Malaria, falciparum, resistance to	Malaria
Malaria, resistance to	Malaria
Malignant hyperthermia susceptibility 1	Malignant hyperthermia susceptibility
Malignant hyperthermia susceptibility 2	Malignant hyperthermia susceptibility
Malignant hyperthermia susceptibility 3	Malignant hyperthermia susceptibility
Malignant hyperthermia susceptibility 4	Malignant hyperthermia susceptibility
Malignant hyperthermia susceptibility 5	Malignant hyperthermia susceptibility
Malignant hyperthermia susceptibility 6	Malignant hyperthermia susceptibility
Malignant melanoma, cutaneous	Malignant melanoma
Malignant mesothelioma, susceptibility to	Malignant mesothelioma
Mannosidosis, alpha-, types I and II	Mannosidosis
Mannosidosis, beta-	Mannosidosis
Maple syrup urine disease, type II	Maple syrup urine disease
Maple syrup urine disease, type Ia	Maple syrup urine disease
Maple syrup urine disease, type Ib	Maple syrup urine disease
Marfan syndrome, atypical	Marfan syndrome
Maroteaux-Lamy syndrome, several forms	Maroteaux-Lamy syndrome
Measles, susceptibility to	Measles
Meckel syndrome, type 1	Meckel syndrome
Meckel syndrome, type 2	Meckel syndrome
Meckel syndrome, type 3	Meckel syndrome
Meconium ileus in cystic fibrosis, susceptibility to	Meconium ileus in cystic fibrosis
Medullary cystic kidney disease 1	Medullary cystic kidney disease
Medullary cystic kidney disease 2	Medullary cystic kidney disease
Medullary thyroid carcinoma, familial	Medullary thyroid carcinoma
Medulloblastoma, desmoplastic	Medulloblastoma
Megakaryoblastic leukemia, acute	Megakaryoblastic leukemia
Megaloblastic anemia-1, Finnish type	Megaloblastic anemia
Megaloblastic anemia-1, Norwegian type	Megaloblastic anemia
Megalocornea, X-linked	Megalocornea
Melanoma, cutaneous malignant, 2	Melanoma
Melanoma, cutaneous malignant, susceptibility to	Melanoma
Melanoma, desmoplastic neurotropic	Melanoma
Melanoma, malignant sporadic	Melanoma
Melanoma, melignant, somatic	Melanoma
Melanoma, uveal, susceptibility to, 1	Melanoma
Melanoma, uveal, susceptibility to, 2	Melanoma
Membranous glomerulonephritis, antenatal	Membranous glomerulonephritis
Memory impairment, susceptibility to	Memory impairment
Meningioma, NF2-related, somatic	Meningioma
Meningioma, SIS-related	Meningioma
Meningioma, radiation-induced	Meningioma
Meningococcal disease, susceptibility to	Meningococcal disease
Mental health wellness-1	Mental health wellness
Mental health wellness-2	Mental health wellness
Mental retardation syndrome, X-linked, Abidi type	Mental retardation syndrome
Mental retardation syndrome, X-linked, Armfield type	Mental retardation syndrome
Mental retardation syndrome, X-linked, Cabezas type	Mental retardation syndrome
Mental retardation syndrome, X-linked, Lubs type	Mental retardation syndrome
Mental retardation syndrome, X-linked, Siderius type	Mental retardation syndrome
Mental retardation, Snyder-Robinson type	Mental retardation
Mental retardation, X-linked 14	Mental retardation
Mental retardation, X-linked 20	Mental retardation
Mental retardation, X-linked 23, nonspecific	Mental retardation
Mental retardation, X-linked 29	Mental retardation
Mental retardation, X-linked 30	Mental retardation
Mental retardation, X-linked 9	Mental retardation
Mental retardation, X-linked nonspecific	Mental retardation
Mental retardation, X-linked nonspecific, 42	Mental retardation
Mental retardation, X-linked nonspecific, 58	Mental retardation
Mental retardation, X-linked nonspecific, 63	Mental retardation
Mental retardation, X-linked nonspecific, type 19	Mental retardation
Mental retardation, X-linked nonspecific, type 46	Mental retardation
Mental retardation, X-linked nonspecific, type 50	Mental retardation
Mental retardation, X-linked nonsyndromic	Mental retardation
Mental retardation, X-linked, 1	Mental retardation
Mental retardation, X-linked, 2	Mental retardation
Mental retardation, X-linked, 21	Mental retardation
Mental retardation, X-linked, 34	Mental retardation
Mental retardation, X-linked, 60	Mental retardation
Mental retardation, X-linked, FRAXE type	Mental retardation
Mental retardation, X-linked, FRAXF type	Mental retardation
Mental retardation, X-linked, Shashi type	Mental retardation
Mental retardation, X-linked, South African type	Mental retardation
Mental retardation, X-linked, nonspecific	Mental retardation
Mental retardation, X-linked, syndromic 7	Mental retardation
Mental retardation, X-linked, syndromic-2, with dysmorphism and cerebral atrophy	Mental retardation
Mental retardation, X-linked, syndromic-4, with congenital contractures and low fingertip arches	Mental retardation
Mental retardation, X-linked, syndromic-5, with Dandy-Walker malformation, basal ganglia disease, and seizures	Mental retardation
Mental retardation, X-linked, syndromic-6, with gynecomastia and obesity	Mental retardation
Mental retardation, X-linked, with epilepsy	Mental retardation
Mental retardation, X-linked, with isolated growth hormone deficiency	Mental retardation
Mental retardation, X-linked, with progressive spasticity	Mental retardation
Mental retardation, X-linked, with seizures and carrier manifestations	Mental retardation
Mental retardation, X-linked, with short stature	Mental retardation
Mental retardation, X-linked-49	Mental retardation
Mental retardation, X-linked-53	Mental retardation
Mental retardation, X-linked-72	Mental retardation
Mental retardation, nonsyndromic, autosomal recessive	Mental retardation
Mental retardation, nonsyndromic, autosomal recessive, 2A	Mental retardation
Mental retardation, profound	Mental retardation
Mental retardation, severe, with spasticity and tapetoretinal degeneration	Mental retardation
Merkel cell carcinoma, somatic	Merkel cell carcinoma
Mesangial sclerosis, isolated diffuse	Mesangial sclerosis
Mesomelic dysplasia, Kantaputra type	Mesomelic dysplasia
Metachromatic leukodystrophy due to deficiency of SAP-1	Metachromatic leukodystrophy due to deficiency of SAP
Metaphyseal chondrodysplasia, Murk Jansen type	Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, Schmid type	Metaphyseal chondrodysplasia
Methemoglobinemia, type I	Methemoglobinemia
Methemoglobinemia, type II	Methemoglobinemia
Methemoglobinemias, alpha-	Methemoglobinemias
Methemoglobinemias, beta-	Methemoglobinemias
Methionine adenosyltransferase deficiency, autosomal recessive	Methionine adenosyltransferase deficiency
Methylcobalamin deficiency, cblG type	Methylcobalamin deficiency
Methylmalonic aciduria, vitamin B12-responsive	Methylmalonic aciduria
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	Methylmalonic aciduria
Methylmalonicaciduria, mutase deficiency type	Methylmalonicaciduria
Microcephaly, Amish type	Microcephaly
Microcephaly, autosomal recessive 1	Microcephaly
Microcephaly, autosomal recessive 2	Microcephaly
Microcephaly, primary autosomal recessive, 3	Microcephaly
Microcephaly, primary autosomal recessive, 4	Microcephaly
Microcephaly, primary autosomal recessive, 5	Microcephaly
Microcoria, congenital	Microcoria
Microphthalmia with associated anomalies 2	Microphthalmia with associated anomalies
Microphthalmia, autosomal recessive	Microphthalmia
Microphthalmia, cataracts, and iris abnormalities	Microphthalmia
Microphthalmia, colobomatous	Microphthalmia
Microphthalmia, dermal aplasia, and sclerocornea	Microphthalmia
Migraine with aura, susceptibility to	Migraine with aura
Migraine with or without aura, susceptibility to	Migraine with or without aura
Migraine, familial hemiplegic	Migraine
Migraine, familial hemiplegic, 2	Migraine
Migraine, familial typical	Migraine
Migraine, familial typical, susceptibility to, 1	Migraine
Migraine, susceptibility to, 4	Migraine
Mitochondrial DNA-depletion syndrome, hepatocerebral form	Mitochondrial DNA-depletion syndrome
Mitral valve prolapse, familial	Mitral valve prolapse
Mixed polyposis syndrome, hereditary	Mixed polyposis syndrome
Moebius syndrome-2	Moebius syndrome
Moebius syndrome-3	Moebius syndrome
Molybdenum cofactor deficiency, type A	Molybdenum cofactor deficiency
Molybdenum cofactor deficiency, type B	Molybdenum cofactor deficiency
Molybdenum cofactor deficiency, type C	Molybdenum cofactor deficiency
Motor neuronopathy, distal hereditary, with vocal cord paralysis	Motor neuronopathy
Moyamoya disease 2	Moyamoya disease
Multiple carboxylase deficiency, biotin-responsive	Multiple carboxylase deficiency
Multiple carboxylase deficiency, biotin-unresponsive	Multiple carboxylase deficiency
Multiple cutaneous and uterine leiomyomata,	Multiple cutaneous and uterine leiomyomata
Multiple sclerosis, susceptibility to	Multiple sclerosis
Muscular dystrophy, Duchenne-like, type 2	Muscular dystrophy
Muscular dystrophy, Fukuyama congenital	Muscular dystrophy
Muscular dystrophy, cogenital, due to partial LAMA2 deficiency	Muscular dystrophy
Muscular dystrophy, congenital merosin-deficient	Muscular dystrophy
Muscular dystrophy, congenital, 1B	Muscular dystrophy
Muscular dystrophy, congenital, 1C	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 1A	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 1B	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 1D	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 2A	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 2B	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 2C	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 2D	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 2E	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 2F	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 2G	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 2H	Muscular dystrophy
Muscular dystrophy, limb-girdle, type 2I	Muscular dystrophy
Muscular dystrophy, limb-girdle, type IC	Muscular dystrophy
Muscular dystrophy, rigid spine, 1	Muscular dystrophy
Myasthenia gravis, familial infantile, 1	Myasthenia gravis
Myasthenia gravis, familial infantile, 2	Myasthenia gravis
Myasthenia gravis, neonatal transient	Myasthenia gravis
Myasthenia syndrome, congenital	Myasthenia syndrome
Myasthenic syndrome, slow-channel congenital	Myasthenic syndrome
Mycobacterial and salmonella infections, susceptibility to	Mycobacterial and salmonella infections
Mycobacterial infection, atypical, familial disseminated	Mycobacterial infection
Myelodysplasia syndrome-1	Myelodysplasia syndrome
Myelodysplastic syndrome, preleukemic	Myelodysplastic syndrome
Myelogenous leukemia, acute	Myelogenous leukemia
Myeloid leukemia, acute, M4Eo subtype	Myeloid leukemia
Myeloid malignancy, predisposition to	Myeloid malignancy
Myelomonocytic leukemia, chronic	Myelomonocytic leukemia
Myocardial infarction, decreased susceptibility to	Myocardial infarction
Myocardial infarction, susceptibility to	Myocardial infarction
Myoclonic epilepsy, X-linked, with mental retardation and spasticity	Myoclonic epilepsy
Myoclonic epilepsy, severe, of infancy	Myoclonic epilepsy
Myopathy, X-linked, with excessive autophagy	Myopathy
Myopathy, actin	Myopathy
Myopathy, cardioskeletal, desmin-related, with cataract	Myopathy
Myopathy, centronuclear	Myopathy
Myopathy, congenital	Myopathy
Myopathy, desmin-related, cardioskeletal	Myopathy
Myopathy, distal	Myopathy
Myopathy, distal, with anterior tibial onset	Myopathy
Myopathy, nemaline, 161800	Myopathy
Myopathy, proximal, with early respiratory muscle involvement	Myopathy
Myopia-1	Myopia
Myopia-2	Myopia
Myopia-3	Myopia
Myotonia congenita, atypical, acetazolamide-responsive	Myotonia congenita
Myotonia congenita, dominant	Myotonia congenita
Myotonia congenita, recessive	Myotonia congenita
Myotonia levior, recessive	Myotonia levior
Myotonic dystrophy, type 2	Myotonic dystrophy
Myotonic myopathy, proximal	Myotonic myopathy
Myotubular myopathy, X-linked	Myotubular myopathy
Myxoma, intracardiac	Myxoma
NAGA deficiency, mild	NAGA deficiency
Nail dysplasia, isolated congenital	Nail dysplasia
Nanophthalmos 2	Nanophthalmos
Nanophthalmos-1	Nanophthalmos
Nasopharyngeal carcinoma 1	Nasopharyngeal carcinoma
Nemaline myopathy 1, autosomal dominant	Nemaline myopathy
Nemaline myopathy 2, autosomal recessive	Nemaline myopathy
Nemaline myopathy, Amish type	Nemaline myopathy
Nephrolithiasis, type I	Nephrolithiasis
Nephrolithiasis, uric acid	Nephrolithiasis
Nephronophthisis 4	Nephronophthisis
Nephronophthisis, adolescent	Nephronophthisis
Nephronophthisis, infantile	Nephronophthisis
Nephronophthisis, juvenile	Nephronophthisis
Nephropathy, IgA type	Nephropathy
Nephropathy, chronic hypocomplementemic	Nephropathy
Nephrosis-1, congenital, Finnish type	Nephrosis
Nephrotic syndrome, idiopathic, steroid-resistant	Nephrotic syndrome
Nephrotic syndrome, steroid-resistant	Nephrotic syndrome
Neural tube defects, maternal risk of	Neural tube defects
Neurodegeneration, pantothenate kinase-associated	Neurodegeneration
Neurofibromatosis, familial spinal	Neurofibromatosis
Neurofibromatosis, type 1	Neurofibromatosis
Neurofibromatosis, type 2	Neurofibromatosis
Neuropathy, axonal, with vocal cord paresis, autosomal recessive	Neuropathy
Neuropathy, congenital hypomyelinating, 1	Neuropathy
Neuropathy, distal hereditary motor, Jerash type	Neuropathy
Neuropathy, hereditary motor and sensory, Lom type	Neuropathy
Neuropathy, hereditary motor and sensory, Okinawa type	Neuropathy
Neuropathy, hereditary sensory and autonomic, type 1	Neuropathy
Neuropathy, motor and sensory, Russe type	Neuropathy
Neuropathy, paraneoplastic sensory	Neuropathy
Neuropathy, recurrent, with pressure palsies	Neuropathy
Neutropenia, alloimmune neonatal	Neutropenia
Neutropenia, congenital	Neutropenia
Neutropenia, neonatal alloimmune	Neutropenia
Neutropenia, severe congenital, X-linked	Neutropenia
Nevus, epidermal, epidermolytic hyperkeratotic type	Nevus
Nicotine addiction, protection from	Nicotine addiction
Niemann-Pick disease, type C1	Niemann-Pick disease
Niemann-Pick disease, type D	Niemann-Pick disease
Niemann-pick disease, type C2	Niemann-pick disease
Night blindness, congenital stationary	Night blindness
Night blindness, congenital stationary, X-linked, type 2	Night blindness
Night blindness, congenital stationary, type 1	Night blindness
Night blindness, congenital stationary, type 3	Night blindness
Night blindness, congenital stationery, rhodopsin-related	Night blindness
Non-Hodgkin lymphoma, somatic	Non-Hodgkin lymphoma
Noncompaction of left ventricular myocardium, isolated	Noncompaction of left ventricular myocardium
Nonsmall cell lung cancer, somatic	Nonsmall cell lung cancer
Noonan syndrome 1	Noonan syndrome
Nucleoside phosphorylase deficiency, immunodeficiency due to	Nucleoside phosphorylase deficiency
Nystagmus 1, congenital	Nystagmus
Nystagmus-2, autosomal dominant	Nystagmus
Obesity, adrenal insufficiency, and red hair	Obesity
Obesity, autosomal dominant	Obesity
Obesity, late-onset	Obesity
Obesity, mild, early-onset	Obesity
Obesity, morbid, with hypogonadism	Obesity
Obesity, resistance to	Obesity
Obesity, severe	Obesity
Obesity, severe, due to leptin deficiency	Obesity
Obesity, severe, susceptibility to	Obesity
Obesity, susceptibility to	Obesity
Obesity/hyperinsulinism, susceptibility to	Obesity/hyperinsulinism
Ocular albinism, Forsius-Eriksson type	Ocular albinism
Ocular albinism, Nettleship-Falls type	Ocular albinism
Oculocutaneous albinism, type IV	Oculocutaneous albinism
Oculomotor apraxia, congential, Cogan-type	Oculomotor apraxia
Oculopharyngeal muscular dystrophy, autosomal recessive	Oculopharyngeal muscular dystrophy
Oguchi disease-1	Oguchi disease
Oguchi disease-2	Oguchi disease
Opitz G syndrome, type I	Opitz G syndrome
Opitz G syndrome, type II	Opitz G syndrome
Optic atrophy 1	Optic atrophy
Optic atrophy, X-linked	Optic atrophy
Optic atrophy-4	Optic atrophy
Oral-facial-digital syndrome 1	Oral-facial-digital syndrome
Orofacial cleft-1	Orofacial cleft
Orofacial cleft-2	Orofacial cleft
Orofacial cleft-3	Orofacial cleft
Orolaryngeal cancer, multiple,	Orolaryngeal cancer
Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula	Osseous dysplasia
Osseous heteroplasia, progressive	Osseous heteroplasia
Osteoarthritis susceptibility, female-specific	Osteoarthritis susceptibility
Osteogenesis imperfecta, 3 clinical forms, 166200, 166210	Osteogenesis imperfecta
Osteogenesis imperfecta, type I	Osteogenesis imperfecta
Osteogenesis imperfecta, type II	Osteogenesis imperfecta
Osteogenesis imperfecta, type III	Osteogenesis imperfecta
Osteogenesis imperfecta, type IV	Osteogenesis imperfecta
Osteolysis, familial expansile	Osteolysis
Osteolysis, idiopathic, Saudi type	Osteolysis
Osteomalacia, tumor-induced	Osteomalacia
Osteopetrosis, autosomal dominant, type I	Osteopetrosis
Osteopetrosis, autosomal dominant, type II	Osteopetrosis
Osteopetrosis, recessive	Osteopetrosis
Osteoporosis, idiopathic	Osteoporosis
Osteoporosis, involutional	Osteoporosis
Osteoporosis, postmenopausal, susceptibility	Osteoporosis
Osteosarcoma, somatic	Osteosarcoma
Otopalatodigital syndrome, type I	Otopalatodigital syndrome
Otopalatodigital syndrome, type I, 311300, Otopalatodigital syndrome, type II	Otopalatodigital syndrome
Otopalatodigital syndrome, type II	Otopalatodigital syndrome
Otosclerosis 1	Otosclerosis
Otosclerosis-2	Otosclerosis
Ovarian cancer, endometrial type	Ovarian cancer
Ovarian cancer, serous	Ovarian cancer
Ovarian carcinoma, endometrioid type	Ovarian carcinoma
Ovarian failure, premature	Ovarian failure
Pachyonychia congenita, Jackson-Lawler type	Pachyonychia congenita
Pachyonychia congenita, Jadassohn-Lewandowsky type	Pachyonychia congenita
Paget disease, juvenile	Paget disease
Palmoplantar keratoderma, Bothnia type	Palmoplantar keratoderma
Palmoplantar keratoderma, nonepidermolytic	Palmoplantar keratoderma
Palmoplantar verrucous nevus, unilateral	Palmoplantar verrucous nevus
Panbronchiolitis, diffuse	Panbronchiolitis
Pancreatic cancer, 1	Pancreatic cancer
Pancreatic cancer, somatic	Pancreatic cancer
Pancreatic cancer, sporadic	Pancreatic cancer
Pancreatitis, hereditary	Pancreatitis
Pancreatitis, idiopathic	Pancreatitis
Panhypopituitarism, X-linked	Panhypopituitarism
Paraganglioma, familial malignant	Paraganglioma
Paragangliomas, familial central nervous system	Paragangliomas
Paragangliomas, familial nonchromaffin, 1, with and without deafness	Paragangliomas
Paragangliomas, familial nonchromaffin, 2	Paragangliomas
Paragangliomas, familial nonchromaffin, 3	Paragangliomas
Parathyroid adenoma, sporadic	Parathyroid adenoma
Parathyroid adenomatosis 1	Parathyroid adenomatosis
Parietal foramina 1	Parietal foramina
Parietal foramina 2	Parietal foramina
Parkinson disease 4, autosomal dominant, Lewy body	Parkinson disease
Parkinson disease 7, autosomal recessive early-onset	Parkinson disease
Parkinson disease, familial	Parkinson disease
Parkinson disease, juvenile, type 2	Parkinson disease
Parkinson disease, late-onset	Parkinson disease
Parkinson disease, susceptibility to	Parkinson disease
Parkinsonism, susceptibility to	Parkinsonism
Pemphigoid, susceptibility to	Pemphigoid
Periodic fever, familial	Periodic fever
Periodontitis, juvenile	Periodontitis
Peripheral arterial occlusive disease 1	Peripheral arterial occlusive disease
Peroxisomal biogenesis disorder, complementation group 4	Peroxisomal biogenesis disorder
Peroxisomal biogenesis disorder, complementation group 6	Peroxisomal biogenesis disorder
Peroxisome biogenesis factor 12	Peroxisome biogenesis factor
Persistent Mullerian duct syndrome, type I	Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome, type II	Persistent Mullerian duct syndrome
Phenylketonuria, atypical, due to GCH1 deficiency	Phenylketonuria
Pheochromocytoma, extraadrenal, and cervical paraganglioma	Pheochromocytoma
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive	Phosphorylase kinase deficiency of liver and muscle
Phrase speech delay, autism-related	Phrase speech delay
Pigmented adrenocortical disease, primary isolated	Pigmented adrenocortical disease
Pituitary hormone deficiency, combined	Pituitary hormone deficiency
Pituitary hormone deficiency, combined, with rigid cervical spine	Pituitary hormone deficiency
Pituitary tumor, invasive	Pituitary tumor
Plasminogen deficiency, types I and II	Plasminogen deficiency
Plasmodium falciparum parasitemia, intensity of	Plasmodium falciparum parasitemia
Platelet disorder, familial, with associated myeloid malignancy	Platelet disorder
Pneumonitis, desquamative interstitial	Pneumonitis
Polio, susceptibility to	Polio
Polycystic kidney disease, adult type I	Polycystic kidney disease
Polycystic kidney disease, adult, type II	Polycystic kidney disease
Polycystic kidney disease, infantile severe, with tuberous sclerosis	Polycystic kidney disease
Polycythemia, benign familial	Polycythemia
Polydactyly, postaxial, type A3	Polydactyly
Polydactyly, postaxial, types A1 and B	Polydactyly
Polydactyly, preaxial II	Polydactyly
Polydactyly, preaxial, type IV	Polydactyly
Polymicrogyria, bilateral frontoparietal	Polymicrogyria
Polymicrogyria, bilateral perisylvian	Polymicrogyria
Polyposis, juvenile intestinal	Polyposis
Porokeratosis, disseminated superficial actinic	Porokeratosis
Porphyria, Chester type	Porphyria
Porphyria, acute hepatic	Porphyria
Porphyria, acute intermittent	Porphyria
Porphyria, acute intermittent, nonerythroid variant	Porphyria
Porphyria, congenital erythropoietic	Porphyria
Porphyria, hepatoerythropoietic	Porphyria
Postaxial polydactyly, type A2	Postaxial polydactyly
Precocious puberty, male	Precocious puberty
Preeclampsia, susceptibility to	Preeclampsia
Primary lateral sclerosis, juvenile	Primary lateral sclerosis
Progressive intrahepatic cholestasis-2	Progressive intrahepatic cholestasis
Prolactinoma, hyperparathyroidism, carcinoid syndrome	Prolactinoma
Properdin deficiency, X-linked	Properdin deficiency
Prostate cancer 1, 176807	Prostate cancer
Prostate cancer, familial	Prostate cancer
Prostate cancer, hereditary	Prostate cancer
Prostate cancer, progression of	Prostate cancer
Prostate cancer, somatic	Prostate cancer
Prostate cancer, susceptibility to	Prostate cancer
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	Proteinuria
Protoporphyria, erythropoietic	Protoporphyria
Protoporphyria, erythropoietic, recessive, with liver failure	Protoporphyria
Pseudohermaphroditism, male, with Leydig cell hypoplasia	Pseudohermaphroditism
Pseudohermaphroditism, male, with gynecomastia	Pseudohermaphroditism
Pseudohyperkalemia, familial	Pseudohyperkalemia
Pseudohypoaldosteronism type I, autosomal dominant	Pseudohypoaldosteronism type I
Pseudohypoaldosteronism, type I	Pseudohypoaldosteronism
Pseudohypoaldosteronism, type II	Pseudohypoaldosteronism
Pseudohypoaldosteronism, type IIC	Pseudohypoaldosteronism
Pseudohypoparathyroidism, type IB	Pseudohypoparathyroidism
Pseudohypoparathyroidism, type Ia	Pseudohypoparathyroidism
Pseudovitamin D deficiency rickets 1	Pseudovitamin D deficiency rickets
Pseudoxanthoma elasticum, autosomal dominant	Pseudoxanthoma elasticum
Pseudoxanthoma elasticum, autosomal recessive	Pseudoxanthoma elasticum
Psoriasis, susceptibility to	Psoriasis
Psoriatic arthritis, susceptibility to	Psoriatic arthritis
Ptosis, hereditary congenital 2	Ptosis
Ptosis, hereditary congenital, 1	Ptosis
Pulmonary alveolar proteinosis, congenital	Pulmonary alveolar proteinosis
Pulmonary disease, chronic obstructive, severe early-onset	Pulmonary disease
Pulmonary hypertension, familial primary	Pulmonary hypertension
Purpura fulminans, neonatal	Purpura fulminans
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne	Pyogenic sterile arthritis
Radiation sensitivity/chromosome instability syndrome, autosomal dominant	Radiation sensitivity/chromosome instability syndrome
Refsum disease, adult, with increased pipecolicacidemia	Refsum disease
Refsum disease, infantile	Refsum disease
Refsum disease, infantile form	Refsum disease
Renal cell carcinoma, clear cell	Renal cell carcinoma
Renal cell carcinoma, papillary, 1	Renal cell carcinoma
Renal cell carcinoma, papillary, 3	Renal cell carcinoma
Renal cell carcinoma, papillary, familial and sporadic	Renal cell carcinoma
Renal cell carcinoma, somatic	Renal cell carcinoma
Renal hypoplasia, isolated	Renal hypoplasia
Renal tubular acidosis, distal	Renal tubular acidosis
Renal tubular acidosis, distal, autosomal recessive	Renal tubular acidosis
Renal tubular acidosis, proximal, with ocular abnormalities	Renal tubular acidosis
Renpenning syndrome-1	Renpenning syndrome
Resistance/susceptibility to TB, etc.	Resistance/susceptibility to TB
Reticulosis, familial histiocytic	Reticulosis
Retinal cone dsytrophy 2	Retinal cone dsytrophy
Retinal degeneration, autosomal recessive, prominin-related	Retinal degeneration
Retinal dystrophy, autosomal recessive, childhood-onset	Retinal dystrophy
Retinal dystrophy, early-onset severe	Retinal dystrophy
Retinal nonattachment, nonsyndromic congenital	Retinal nonattachment
Retinitis pigmentasa, AR, without hearing loss	Retinitis pigmentasa
Retinitis pigmentosa 23	Retinitis pigmentosa
Retinitis pigmentosa, AR	Retinitis pigmentosa
Retinitis pigmentosa, MERTK-related	Retinitis pigmentosa
Retinitis pigmentosa, X-linked, with recurrent respiratory infections	Retinitis pigmentosa
Retinitis pigmentosa, Y-linked	Retinitis pigmentosa
Retinitis pigmentosa, autosomal dominant	Retinitis pigmentosa
Retinitis pigmentosa, autosomal recessive	Retinitis pigmentosa
Retinitis pigmentosa, digenic	Retinitis pigmentosa
Retinitis pigmentosa, juvenile	Retinitis pigmentosa
Retinitis pigmentosa, late onset	Retinitis pigmentosa
Retinitis pigmentosa, late-onset dominant	Retinitis pigmentosa
Retinitis pigmentosa-1	Retinitis pigmentosa
Retinitis pigmentosa-10	Retinitis pigmentosa
Retinitis pigmentosa-11	Retinitis pigmentosa
Retinitis pigmentosa-12, autosomal recessive	Retinitis pigmentosa
Retinitis pigmentosa-13	Retinitis pigmentosa
Retinitis pigmentosa-14	Retinitis pigmentosa
Retinitis pigmentosa-17	Retinitis pigmentosa
Retinitis pigmentosa-18	Retinitis pigmentosa
Retinitis pigmentosa-19	Retinitis pigmentosa
Retinitis pigmentosa-2	Retinitis pigmentosa
Retinitis pigmentosa-20	Retinitis pigmentosa
Retinitis pigmentosa-22	Retinitis pigmentosa
Retinitis pigmentosa-24	Retinitis pigmentosa
Retinitis pigmentosa-25	Retinitis pigmentosa
Retinitis pigmentosa-28	Retinitis pigmentosa
Retinitis pigmentosa-3	Retinitis pigmentosa
Retinitis pigmentosa-4, autosomal dominant	Retinitis pigmentosa
Retinitis pigmentosa-7, peripherin-related	Retinitis pigmentosa
Retinitis pigmentosa-9	Retinitis pigmentosa
Retinol binding protein, deficiency of	Retinol binding protein
Retinopathy, vascular, with cerebral and renal involvement	Retinopathy
Rett syndrome, preserved speech variant	Rett syndrome
Rhabdoid predisposition syndrome, familial	Rhabdoid predisposition syndrome
Rhabdomyosarcoma, alveolar	Rhabdomyosarcoma
Rheumatoid arthritis, susceptibility to	Rheumatoid arthritis
Rhizomelic chondrodysplasia punctata, type 1	Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata, type 3	Rhizomelic chondrodysplasia punctata
Rickets, vitamin D-resistant	Rickets
Rieger syndrome, type 2	Rieger syndrome
Rippling muscle disease-1	Rippling muscle disease
Robinow syndrome, autosomal recessive	Robinow syndrome
SCID, autosomal recessive, T-negative/B-positive type	SCID
SEMD, Pakistani type	SEMD
STAT1 deficiency, complete	STAT1 deficiency
Sandhoff disease, infantile, juvenile, and adult forms	Sandhoff disease
Sanfilippo syndrome, type B	Sanfilippo syndrome
Sarcoma, synovial	Sarcoma
Scapuloperoneal spinal muscular atrophy, New England type	Scapuloperoneal spinal muscular atrophy
Scapuloperoneal syndrome, myopathic type	Scapuloperoneal syndrome
Schistosoma mansoni infection, susceptibility/resistance to	Schistosoma mansoni infection
Schizophrenia, chronic	Schizophrenia
Schizophrenia, neurophysiologic defect in	Schizophrenia
Schizophrenia, susceptibility to	Schizophrenia
Schwartz-Jampel syndrome, type 1	Schwartz-Jampel syndrome
Scoliosis, idiopathic 1	Scoliosis
Scoliosis, idiopathic 2	Scoliosis
Segawa syndrome, recessive	Segawa syndrome
Seizures, afebrile	Seizures
Seizures, benign familial neonatal-infantile	Seizures
Senior-Loken syndrome 3	Senior-Loken syndrome
Senior-Loken syndrome 4	Senior-Loken syndrome
Senior-Loken syndrome-1	Senior-Loken syndrome
Septic shock, susceptibility to	Septic shock
Severe combined immunodeficiency, Athabascan type	Severe combined immunodeficiency
Severe combined immunodeficiency, B cell-negative	Severe combined immunodeficiency
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type	Severe combined immunodeficiency
Severe combined immunodeficiency, X-linked	Severe combined immunodeficiency
Sex reversal, XY, with adrenal failure	Sex reversal
Short stature, autosomal dominant, with normal serum growth hormone binding protein	Short stature
Short stature, idiopathic	Short stature
Short stature, idiopathic familial	Short stature
Short stature, pituitary and cerebellar defects, and small sella turcica	Short stature
Sialic acid storage disorder, infantile	Sialic acid storage disorder
Sialidosis, type I	Sialidosis
Sialidosis, type II	Sialidosis
Simpson-Golabi-Behmel syndrome, type 1	Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome, type 2	Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome, type I	Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome, type II	Smith-Lemli-Opitz syndrome
Spastic ataxia, Charlevoix-Saguenay type	Spastic ataxia
Spastic ataxia, autosomal dominant	Spastic ataxia
Spastic cerebral palsy, symmetric	Spastic cerebral palsy
Spastic paralysis, infantile onset ascending	Spastic paralysis
Spastic paraplegia 10	Spastic paraplegia
Spastic paraplegia 14, autosomal recessive	Spastic paraplegia
Spastic paraplegia-11	Spastic paraplegia
Spastic paraplegia-12	Spastic paraplegia
Spastic paraplegia-13	Spastic paraplegia
Spastic paraplegia-15	Spastic paraplegia
Spastic paraplegia-16, X-linked, complicated	Spastic paraplegia
Spastic paraplegia-17	Spastic paraplegia
Spastic paraplegia-19	Spastic paraplegia
Spastic paraplegia-2	Spastic paraplegia
Spastic paraplegia-4	Spastic paraplegia
Spastic paraplegia-6	Spastic paraplegia
Spastic paraplegia-7	Spastic paraplegia
Spastic paraplegia-8	Spastic paraplegia
Spastic paraplegia-9	Spastic paraplegia
Specific language impairment QTL, 1	Specific language impairment QTL
Specific language impairment QTL, 2	Specific language impairment QTL
Speech-language disorder-1	Speech-language disorder
Spherocytosis, hereditary	Spherocytosis
Spherocytosis, hereditary, Japanese type	Spherocytosis
Spherocytosis, recessive	Spherocytosis
Spherocytosis-1	Spherocytosis
Spherocytosis-2	Spherocytosis
Spina bifida, risk of}, 601634	Spina bifida
Spinal muscular atrophy, X-linked lethal infantile	Spinal muscular atrophy
Spinal muscular atrophy, chronic distal, autosomal recessive	Spinal muscular atrophy
Spinal muscular atrophy, congenital nonprogressive, of lower limbs	Spinal muscular atrophy
Spinal muscular atrophy, distal, with upper limb predominance	Spinal muscular atrophy
Spinal muscular atrophy, juvenile	Spinal muscular atrophy
Spinal muscular atrophy-1	Spinal muscular atrophy
Spinal muscular atrophy-2	Spinal muscular atrophy
Spinal muscular atrophy-3	Spinal muscular atrophy
Spinal muscular atrophy-4	Spinal muscular atrophy
Spinocereballar ataxia-13	Spinocereballar ataxia
Spinocerebellar ataxia 12	Spinocerebellar ataxia
Spinocerebellar ataxia 16	Spinocerebellar ataxia
Spinocerebellar ataxia 17	Spinocerebellar ataxia
Spinocerebellar ataxia 19	Spinocerebellar ataxia
Spinocerebellar ataxia 8	Spinocerebellar ataxia
Spinocerebellar ataxia, autosomal recessive with axonal neuropathy	Spinocerebellar ataxia
Spinocerebellar ataxia, infantile-onset, with sensory neuropathy	Spinocerebellar ataxia
Spinocerebellar ataxia, recessive, non-Friedreich type 1	Spinocerebellar ataxia
Spinocerebellar ataxia-1	Spinocerebellar ataxia
Spinocerebellar ataxia-10	Spinocerebellar ataxia
Spinocerebellar ataxia-11	Spinocerebellar ataxia
Spinocerebellar ataxia-14	Spinocerebellar ataxia
Spinocerebellar ataxia-2	Spinocerebellar ataxia
Spinocerebellar ataxia-4	Spinocerebellar ataxia
Spinocerebellar ataxia-5	Spinocerebellar ataxia
Spinocerebellar ataxia-6	Spinocerebellar ataxia
Spinocerebellar ataxia-7	Spinocerebellar ataxia
Split hand/foot malformation, type 1	Split hand/foot malformation
Split hand/foot malformation, type 2	Split hand/foot malformation
Split hand/foot malformation, type 3	Split hand/foot malformation
Split-hand/foot malformation 5	Split-hand/foot malformation
Split-hand/foot malformation, type 4	Split-hand/foot malformation
Spondylocostal dysostosis, autosomal recessive, 1	Spondylocostal dysostosis
Spondylometaphyseal dysplasia, Japanese type	Spondylometaphyseal dysplasia
Squamous cell carcinoma, burn scar-related, somatic	Squamous cell carcinoma
Squamous cell carcinoma, head and neck	Squamous cell carcinoma
Stargardt disease 3	Stargardt disease
Stargardt disease 4	Stargardt disease
Stargardt disease-1	Stargardt disease
Startle disease, autosomal recessive	Startle disease
Startle disease/hyperekplexia, autosomal dominant	Startle disease/hyperekplexia
Stature QTL 12	Stature QTL
Stature QTL 13	Stature QTL
Stature QTL 6	Stature QTL
Stature QTL 7	Stature QTL
Stickler syndrome, type I	Stickler syndrome
Stickler syndrome, type II	Stickler syndrome
Stickler syndrome, type III	Stickler syndrome
Stroke, susceptibility to	Stroke
Subcortical laminal heteropia, X-linked	Subcortical laminal heteropia
Supranuclear palsy, progressive	Supranuclear palsy
Supranuclear palsy, progressive atypical	Supranuclear palsy
Symphalangism, proximal	Symphalangism
Syndactyly, type 1	Syndactyly
Syndactyly, type III	Syndactyly
Synostoses syndrome, multiple, 1	Synostoses syndrome
Synpolydactyly, type II	Synpolydactyly
Systemic lupus erythematosus, susceptibility	Systemic lupus erythematosus
Systemic lupus erythematosus, susceptibility to, 1	Systemic lupus erythematosus
Systemic lupus erythematosus, susceptibility to, 2	Systemic lupus erythematosus
Systemic lupus erythematosus, susceptibility to, 3	Systemic lupus erythematosus
Systemic lupus erythematosus, vitiligo-related, susceptibility to, 1	Systemic lupus erythematosus
T-cell immunodeficiency, congenital alopecia, and nail dystrophy	T-cell immunodeficiency
T-cell prolymphocytic leukemia, sporadic	T-cell prolymphocytic leukemia
TSC2 angiomyolipomas, renal, modifier of	TSC2 angiomyolipomas
Thalassemia, alpha-	Thalassemia
Thalassemia, delta-	Thalassemia
Thalassemias, alpha-	Thalassemias
Thalassemias, beta-	Thalassemias
Thanatophoric dysplasia, types I and II	Thanatophoric dysplasia
Thrombocythemia, essential	Thrombocythemia
Thrombocytopenia, X-linked	Thrombocytopenia
Thrombocytopenia, X-linked, intermittent	Thrombocytopenia
Thrombocytopenia, congenital amegakaryocytic	Thrombocytopenia
Thrombocytopenia, neonatal alloimmune	Thrombocytopenia
Thrombocytopenia-2	Thrombocytopenia
Thrombocytosis, familial X-linked	Thrombocytosis
Thrombophilia, dysfibrinogenemic	Thrombophilia
Thrombophilia, dysplasminogenemic	Thrombophilia
Thrombosis, hyperhomocysteinemic	Thrombosis
Thrombotic thrombocytopenic purpura, familial	Thrombotic thrombocytopenic purpura
Thyroid adenoma, hyperfunctioning	Thyroid adenoma
Thyroid carcinoma, follicular	Thyroid carcinoma
Thyroid carcinoma, nonmedullary, 1	Thyroid carcinoma
Thyroid carcinoma, nonmedullary, with cell oxyphilia	Thyroid carcinoma
Thyroid carcinoma, papillary	Thyroid carcinoma
Thyroid carcinoma, papillary, with papillary renal neoplasia	Thyroid carcinoma
Thyroid hormone resistance, 274300	Thyroid hormone resistance
Toenail dystrophy, isolated	Toenail dystrophy
Transposition of great arteries, dextro-looped	Transposition of great arteries
Tremor, familial essential, 1	Tremor
Tremor, familial essential, 2	Tremor
Trichoepithelioma, multiple familial	Trichoepithelioma
Trichorhinophalangeal syndrome, type I	Trichorhinophalangeal syndrome
Trichorhinophalangeal syndrome, type III	Trichorhinophalangeal syndrome
Trifunctional protein deficiency, type 1	Trifunctional protein deficiency
Trifunctional protein deficiency, type II	Trifunctional protein deficiency
Tuberculosis, susceptibility to	Tuberculosis
Tuberous sclerosis-1	Tuberous sclerosis
Tuberous sclerosis-2	Tuberous sclerosis
Tubulopathy, encephalopathy, and liver failure due to complex III deficiency	Tubulopathy
Twinning, dizygotic	Twinning
Tyrosinemia, type I	Tyrosinemia
Tyrosinemia, type II	Tyrosinemia
Tyrosinemia, type III	Tyrosinemia
Tyrosinemia, type Ib	Tyrosinemia
UV-induced skin damage, vulnerability to	UV-induced skin damage
Ulcerative colitis, susceptibility to	Ulcerative colitis
Unna-Thost disease, nonepidermolytic	Unna-Thost disease
Urolithiasis, 2,8-dihydroxyadenine	Urolithiasis
Usher syndrome, type 1A	Usher syndrome
Usher syndrome, type 1B	Usher syndrome
Usher syndrome, type 1C	Usher syndrome
Usher syndrome, type 1D	Usher syndrome
Usher syndrome, type 1E	Usher syndrome
Usher syndrome, type 1F	Usher syndrome
Usher syndrome, type 1G	Usher syndrome
Usher syndrome, type 2A	Usher syndrome
Usher syndrome, type 2C	Usher syndrome
Usher syndrome, type 3	Usher syndrome
Usher syndrome, type IIB	Usher syndrome
Venous malformations, multiple cutaneous and mucosal	Venous malformations
Ventricular fibrillation, idiopathic	Ventricular fibrillation
Ventricular tachycardia, idiopathic	Ventricular tachycardia
Ventricular tachycardia, stress-induced polymorphic	Ventricular tachycardia
Viral infections, recurrent	Viral infections
Virilization, maternal and fetal, from placental aromatase deficiency	Virilization
Vitamin D-dependent coagulation defect 2	Vitamin D-dependent coagulation defect
Vitiligo, susceptibility to	Vitiligo
Vitreoretinopathy, neovascular inflammatory	Vitreoretinopathy
Vivax malaria, susceptibility to	Vivax malaria
Waardenburg syndrome, type 2B	Waardenburg syndrome
Waardenburg syndrome, type I	Waardenburg syndrome
Waardenburg syndrome, type IIA	Waardenburg syndrome
Waardenburg syndrome, type IIC	Waardenburg syndrome
Waardenburg syndrome, type III	Waardenburg syndrome
Waardenburg syndrome/albinism, digenic	Waardenburg syndrome/albinism
Waardenburg syndrome/ocular albinism, digenic	Waardenburg syndrome/ocular albinism
Waardenburg-Shah syndrome, neurologic variant	Waardenburg-Shah syndrome
Wernicke-Korsakoff syndrome, susceptibility to	Wernicke-Korsakoff syndrome
Wilms tumor susceptibility-5	Wilms tumor susceptibility
Wilms tumor, somatic	Wilms tumor
Wilms tumor, type 1	Wilms tumor
Wilms tumor, type 2	Wilms tumor
Wilms tumor, type 3	Wilms tumor
Wilms tumor, type 4	Wilms tumor
Wolfram syndrome 2	Wolfram syndrome
X inactivation, familial skewed, 2	X inactivation
X-inactivation, familial skewed	X-inactivation
Xanthinuria, type I	Xanthinuria
Xeroderma pigmentosum, group A	Xeroderma pigmentosum
Xeroderma pigmentosum, group B	Xeroderma pigmentosum
Xeroderma pigmentosum, group C	Xeroderma pigmentosum
Xeroderma pigmentosum, group D	Xeroderma pigmentosum
Xeroderma pigmentosum, group E, DDB-negative subtype	Xeroderma pigmentosum
Xeroderma pigmentosum, group E, subtype 2	Xeroderma pigmentosum
Xeroderma pigmentosum, group F	Xeroderma pigmentosum
Xeroderma pigmentosum, group G	Xeroderma pigmentosum
Xeroderma pigmentosum, variant type	Xeroderma pigmentosum
Zellweger syndrome, complementation group 9	Zellweger syndrome
Zellweger syndrome, complementation group G	Zellweger syndrome
Zellweger syndrome-1	Zellweger syndrome
Zellweger syndrome-2	Zellweger syndrome
Zellweger syndrome-3	Zellweger syndrome
congestive heart failure, susceptibility to	congestive heart failure
van Buchem disease, type 2	van Buchem disease
van der Woude syndrome 2	van der Woude syndrome
von Hippel-Lindau disease, modification of	von Hippel-Lindau disease