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3HMG see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HAD deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
Haddad syndrome see congenital central hypoventilation syndrome
HADH deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHSC deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
HAE see hereditary angioedema
Haemochromatosis see hemochromatosis
Hair Loss
Hair Problems
HAL deficiency see histidinemia
Hall-Hittner syndrome see CHARGE syndrome
Hall-Pallister syndrome see Pallister-Hall syndrome
Hallgren syndrome see Usher syndrome
Hamartoma Syndrome, Multiple see Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; Proteus syndrome
Hamel cerebropalatocardiac syndrome see Renpenning syndrome
HANAC see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
hand-foot-genital syndrome
Hand-foot-uterus syndrome see hand-foot-genital syndrome
Hand Injuries and Disorders
HANE see hereditary angioedema
Happle syndrome see X-linked chondrodysplasia punctata 2
harlequin ichthyosis
Hashimoto-Pritzger disease see Langerhans cell histiocytosis
Haw River syndrome see dentatorubral-pallidoluysian atrophy
Hay-Wells syndrome see ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
HbS disease see sickle cell disease
HC see hemochromatosis
HCC see hypomyelination and congenital cataract
HCH see hypochondroplasia
HCHWA see hereditary cerebral amyloid angiopathy
HCM see familial hypertrophic cardiomyopathy
HDDD1 see GRN-related frontotemporal dementia
HDDD2 see GRN-related frontotemporal dementia
HDL deficiency, type 2 see familial HDL deficiency
HDL Lipoprotein Deficiency Disease see Tangier disease
HDLD see familial HDL deficiency
HDLS see hereditary diffuse leukoencephalopathy with spheroids
Hearing Disorders and Deafness
Hearing Problems in Children
Heart Diseases
Heart-hand syndrome, type 1 see Holt-Oram syndrome
Heart Valve Diseases
HED see hypohidrotic ectodermal dysplasia
HEM dysplasia see Greenberg dysplasia
HEM skeletal dysplasia see Greenberg dysplasia
Hemangioma, Cavernous, Central Nervous System see cerebral cavernous malformation
hemangiomata with dyschondroplasia see Maffucci syndrome
hemangiomatosis chondrodystrophica see Maffucci syndrome
hemangiomatous branchial clefts-lip pseudocleft syndrome see branchio-oculo-facial syndrome
Hematoporphyria see porphyria
hematuria-nephropathy-deafness syndrome see Alport syndrome
hematuric hereditary nephritis see Alport syndrome
hemifacial microsomia see craniofacial microsomia
Hemiplegic Migraine, Familial see familial hemiplegic migraine
Hemiplegic-ophthalmoplegic migraine see familial hemiplegic migraine
Hemochromatoses see hemochromatosis
hemochromatosis
hemoglobin M disease see methemoglobinemia, beta-globin type
Hemoglobin S Disease see sickle cell disease
Hemoglobinuria, Paroxysmal see paroxysmal nocturnal hemoglobinuria
Hemolytic-Uremic Syndrome see atypical hemolytic-uremic syndrome
hemophagocytic syndrome see familial hemophagocytic lymphohistiocytosis
hemophilia
hemorrhagic familial nephritis see Alport syndrome
hemorrhagic hereditary nephritis see Alport syndrome
hepatic AGT deficiency see primary hyperoxaluria
hepatic cirrhosis, dystonia, polycythaemia, and hypermanganesaemia see hypermanganesemia with dystonia, polycythemia, and cirrhosis
hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia see hypermanganesemia with dystonia, polycythemia, and cirrhosis
hepatic ductular hypoplasia see Alagille syndrome
hepatic glycogen phosphorylase deficiency see glycogen storage disease type VI
Hepatic methionine adenosyltransferase deficiency see hypermethioninemia
hepatic veno-occlusive disease with immunodeficiency
hepatocerebral mitochondrial DNA depletion syndrome see deoxyguanosine kinase deficiency
hepatofacioneurocardiovertebral syndrome see Alagille syndrome
Hepatolenticular degeneration syndrome see Wilson disease
hereditary angioedema
hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
hereditary antithrombin deficiency
hereditary arthro-ophthalmo-dystrophy see Stickler syndrome
hereditary arthro-ophthalmopathy see Stickler syndrome
Hereditary Autosomal Dominant Spastic Paraplegia see spastic paraplegia type 3A; spastic paraplegia type 4
Hereditary Central Nervous System Demyelinating Diseases
hereditary cerebral amyloid angiopathy
hereditary ceruloplasmin deficiency see aceruloplasminemia
hereditary dementia, multi-infarct type see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
hereditary desmoid disease see desmoid tumor
hereditary diffuse leukoencephalopathy with spheroids
hereditary dysphasic disinhibition dementia see GRN-related frontotemporal dementia
hereditary dystopic lipidosis see Fabry disease
hereditary epithelial dysplasia of retina see Leber congenital amaurosis
hereditary erythrocytosis see familial erythrocytosis
hereditary essential myoclonus see myoclonus-dystonia
hereditary essential tremor see essential tremor
hereditary familial congenital hemorrhagic nephritis see Alport syndrome
hereditary ferritinopathy see neuroferritinopathy
hereditary folate malabsorption
hereditary fructose intolerance
hereditary glaucoma see early-onset glaucoma
hereditary hematuria syndrome see Alport syndrome
hereditary hemorrhagic telangiectasia
hereditary hyperekplexia
hereditary hyperferritinemia-cataract syndrome see hyperferritinemia-cataract syndrome
hereditary hyperferritinemia with congenital cataracts see hyperferritinemia-cataract syndrome
hereditary hyperparathyroidism-jaw tumor syndrome see hyperparathyroidism-jaw tumor syndrome
hereditary hypophosphatemic rickets
Hereditary inclusion body myopathy see inclusion body myopathy 2
hereditary interstitial pyelonephritis see Alport syndrome
Hereditary iron-loading anemia see X-linked sideroblastic anemia
hereditary leiomyomatosis and renal cell cancer
hereditary lymphedema type I see Milroy disease
hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
hereditary motor and sensory neuropathy Type IV see Refsum disease
hereditary motor and sensory neuropathy with agenesis of the corpus callosum see Andermann syndrome
hereditary motor neuronopathy see spinal muscular atrophy
hereditary multiple benign cystic epithelioma see multiple familial trichoepithelioma
hereditary multiple exostoses
hereditary myopathy with early respiratory failure
hereditary myopathy with lactic acidosis see myopathy with deficiency of iron-sulfur cluster assembly enzyme
Hereditary nephritis see Alport syndrome
hereditary neuralgic amyotrophy
hereditary neuropathy with liability to pressure palsies
hereditary nonpolyposis colorectal cancer see Lynch syndrome
hereditary nonpolyposis colorectal neoplasms see Lynch syndrome
hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sj�gren syndrome
hereditary onycho-osteodysplasia see nail-patella syndrome
Hereditary Opalescent Dentin see dentinogenesis imperfecta
Hereditary optic neuroretinopathy see Leber hereditary optic neuropathy
hereditary osteo-onychodysplasia see nail-patella syndrome
hereditary pancreatitis
hereditary paraganglioma-pheochromocytoma
Hereditary Periodic Fever Syndromes see familial Mediterranean fever
Hereditary Polyposis Coli see familial adenomatous polyposis
hereditary progressive dystonia with marked diurnal fluctuation see dopa-responsive dystonia
hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
Hereditary resistance to activated protein C see factor V Leiden thrombophilia
hereditary retinal aplasia see Leber congenital amaurosis
Hereditary Sensory and Autonomic Neuropathies
hereditary sensory and autonomic neuropathy, type 4 see congenital insensitivity to pain with anhidrosis
hereditary sensory and autonomic neuropathy type IE
hereditary sensory and autonomic neuropathy type II
hereditary sensory and autonomic neuropathy type IV see congenital insensitivity to pain with anhidrosis
hereditary sensory and autonomic neuropathy type V
hereditary sensory neuropathy type 1
Hereditary Spastic Paraplegia
hereditary spastic paraplegia 8 see spastic paraplegia type 8
hereditary spherocytosis
hereditary thrombophilia due to protein C deficiency see protein C deficiency
hereditary thrombophilia due to protein S deficiency see protein S deficiency
hereditary thymine-uraciluria see dihydropyrimidine dehydrogenase deficiency
Hereditary Tyrosinemias see tyrosinemia
hereditary unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
hereditary ventricular hypertrophy see familial hypertrophic cardiomyopathy
Hereditary X-linked Recessive Spastic Paraplegia see spastic paraplegia type 2
heredofamilial neuritis with brachial plexus predilection see hereditary neuralgic amyotrophy
heredopathia atactica polyneuritiformis see Refsum disease
heredoretinopathia congenitalis see Leber congenital amaurosis
Hermansky-Pudlak syndrome
Hernia
hernia, abdominal see abdominal wall defect
Hers disease see glycogen storage disease type VI
Heterotopic Ossification see progressive osseous heteroplasia
Heterozygous OSMED see Weissenbacher-Zweym�ller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweym�ller syndrome
HexA deficiency see Tay-Sachs disease
Hexosaminidase A and B Deficiency Disease see Sandhoff disease
Hexosaminidase A deficiency see Tay-Sachs disease
Hexosaminidase activator deficiency see GM2-gangliosidosis, AB variant
Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease
HFG syndrome see hand-foot-genital syndrome
HFGS see hand-foot-genital syndrome
HFM see craniofacial microsomia
HFTC see hyperphosphatemic familial tumoral calcinosis
HFU syndrome see hand-foot-genital syndrome
2-HGA see 2-hydroxyglutaric aciduria
HGPPS see horizontal gaze palsy with progressive scoliosis
HGPRT deficiency see Lesch-Nyhan syndrome
HGPS see Hutchinson-Gilford progeria syndrome
HH see hemochromatosis
HHCS see hyperferritinemia-cataract syndrome
HHH syndrome see ornithine translocase deficiency
HHT see hereditary hemorrhagic telangiectasia
HI see harlequin ichthyosis
Hibernian familial fever see tumor necrosis factor receptor-associated periodic syndrome
HIBM see inclusion body myopathy 2
HID syndrome see hystrix-like ichthyosis with deafness
hidradenitides, suppurative see hidradenitis suppurativa
hidradenitis suppurativa
HIE syndrome see Job syndrome
HIES see Job syndrome
High Blood Pressure
HIGM1 see X-linked hyper IgM syndrome
Hippel-Lindau disease see von Hippel-Lindau syndrome
Hirschsprung disease
Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
HIS deficiency see histidinemia
histidase deficiency see histidinemia
histidine ammonia-lyase deficiency see histidinemia
histidinemia
histiocytosis X see Langerhans cell histiocytosis
HLAH see hemochromatosis
HLCS deficiency see holocarboxylase synthetase deficiency
HLRCC see hereditary leiomyomatosis and renal cell cancer
HMCS see McKusick-Kaufman syndrome
HMDPC see hypermanganesemia with dystonia, polycythemia, and cirrhosis
HMERF see hereditary myopathy with early respiratory failure
HMG see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HML see myopathy with deficiency of iron-sulfur cluster assembly enzyme
HMN V see distal hereditary motor neuropathy, type V
HMN6 see spinal muscular atrophy with respiratory distress type 1
HMNVI see spinal muscular atrophy with respiratory distress type 1
HMSN see Charcot-Marie-Tooth disease
HMSN/ACC see Andermann syndrome
HMSN IV see Refsum disease
HMSN type IV see Refsum disease
HNA see hereditary neuralgic amyotrophy
HNPCC see Lynch syndrome
HNPP see hereditary neuropathy with liability to pressure palsies
HOGA see gyrate atrophy of the choroid and retina
HOKPP see hypokalemic periodic paralysis
holocarboxylase synthetase deficiency
Holoprosencephaly see nonsyndromic holoprosencephaly
Holt-Oram syndrome
homocystinuria
Homogentisic acid oxidase deficiency see alkaptonuria
Homogentisic acidura see alkaptonuria
horizontal gaze palsy with progressive scoliosis
Horner syndrome
Hornstein-Birt-Hogg-Dub� syndrome see Birt-Hogg-Dub� syndrome
Hornstein-Knickenberg syndrome see Birt-Hogg-Dub� syndrome
HOS see Holt-Oram syndrome
Hoyeraal-Hreidarsson syndrome see dyskeratosis congenita
HP see hereditary pancreatitis
HP1 see primary hyperoxaluria
HP2 see primary hyperoxaluria
HPLH see familial hemophagocytic lymphohistiocytosis
HPS see Hermansky-Pudlak syndrome
HPT-JT see hyperparathyroidism-jaw tumor syndrome
HS see hereditary spherocytosis
HSAN see hereditary sensory neuropathy type 1
HSAN type II see hereditary sensory and autonomic neuropathy type II
HSAN Type III see familial dysautonomia
HSAN type IV see congenital insensitivity to pain with anhidrosis
HSAN type V see hereditary sensory and autonomic neuropathy type V
HSAN V see hereditary sensory and autonomic neuropathy type V
HSAN2 see hereditary sensory and autonomic neuropathy type II
HSAN3 see familial dysautonomia
HSAN4 see congenital insensitivity to pain with anhidrosis
HSAN5 see hereditary sensory and autonomic neuropathy type V
HSANII see hereditary sensory and autonomic neuropathy type II
HSCR see Hirschsprung disease
HSD10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
HSN I see hereditary sensory neuropathy type 1
HSN IE see hereditary sensory and autonomic neuropathy type IE
HSN-III see familial dysautonomia
HSN Type I see hereditary sensory neuropathy type 1
HSN type II see hereditary sensory and autonomic neuropathy type II
HSN1 see hereditary sensory neuropathy type 1
HSNIE see hereditary sensory and autonomic neuropathy type IE
HSP-TCC see spastic paraplegia type 11
HTL see autosomal recessive hypotrichosis
humero-spinal dysostosis see CHST3-related skeletal dysplasia
Hunter Syndrome see mucopolysaccharidosis type II
Huntington disease
Huntington disease-like syndrome
Huntington's Disease see Huntington disease
Hurler-Scheie syndrome see mucopolysaccharidosis type I
Hurler syndrome see mucopolysaccharidosis type I
Hutchinson-Gilford progeria syndrome
hyaloideoretinal degeneration of Wagner see Wagner syndrome
Hydrocephalus
hydrocephalus, internal, Dandy-Walker type see Dandy-Walker syndrome
hydrocephalus, noncommunicating, Dandy-Walker type see Dandy-Walker syndrome
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation see McKusick-Kaufman syndrome
hydronephrosis-inverted smile see Ochoa syndrome
hydronephrosis with peculiar facial expression see Ochoa syndrome
hydrops - ectopic calcification - moth-eaten skeletal dysplasia see Greenberg dysplasia
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
hydroxyacyl-CoA dehydrogenase II deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
4-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
4-hydroxybutyricaciduria see succinic semialdehyde dehydrogenase deficiency
2-hydroxyglutaric aciduria
11b hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
21-hydroxylase deficiency
Hydroxymethylglutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3b-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
hyper IgD syndrome see mevalonate kinase deficiency
Hyper-IgE Syndrome see Job syndrome
Hyper-IgM syndrome 1 see X-linked hyper IgM syndrome
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency
Hyperargininemia see arginase deficiency
hyperbilirubinemia 1 see Gilbert syndrome
hyperbilirubinemia II see Dubin-Johnson syndrome
hyperbilirubinemia, Rotor type see Rotor syndrome
Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
hypercholesterolemia
Hyperchylomicronemia, Familial see familial lipoprotein lipase deficiency
hypercortisolism see Cushing disease
Hyperdibasic aminoaciduria see lysinuric protein intolerance
hyperekplexia see hereditary hyperekplexia
hyperferritinemia-cataract syndrome
Hyperglycinemia, Nonketotic see glycine encephalopathy
hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia
hyperhistidinemia see histidinemia
hyperimidodipeptiduria see prolidase deficiency
Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
hyperimmunoglobulinemia D see mevalonate kinase deficiency
hyperinsulinemia hypoglycemia of infancy see familial hyperinsulinism
hyperkalemic periodic paralysis
hyperkeratosis, epidermolytic see epidermolytic hyperkeratosis
HyperKPP see hyperkalemic periodic paralysis
Hyperlipoproteinemia Type I see familial lipoprotein lipase deficiency
hyperlysinemia
hypermanganesemia with dystonia, polycythemia, and cirrhosis
hypermethioninemia
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome see ornithine translocase deficiency
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome see ornithine translocase deficiency
hyperornithinemia with gyrate atrophy of choroid and retina see gyrate atrophy of the choroid and retina
hyperostosis corticalis deformans juvenilis see juvenile Paget disease
hyperostosis corticalis generalisata see SOST-related sclerosing bone dysplasia
hyperotosis corticalis generalisata familiaris see SOST-related sclerosing bone dysplasia
Hyperoxaluria, Primary see primary hyperoxaluria
hyperparathyroidism 1 see familial isolated hyperparathyroidism
hyperparathyroidism-jaw tumor syndrome
Hyperparathyroidism, Primary
hyperphenylalaninemia caused by a defect in biopterin metabolism see tetrahydrobiopterin deficiency
hyperphenylalaninemia, non-phenylketonuric see tetrahydrobiopterin deficiency
hyperphosphatasemia tarda see SOST-related sclerosing bone dysplasia
hyperphosphatasemia with bone disease see juvenile Paget disease
hyperphosphatasia, familial idiopathic see juvenile Paget disease
hyperphosphatemia hyperostosis see hyperphosphatemic familial tumoral calcinosis
hyperphosphatemia tumoral calcinosis see hyperphosphatemic familial tumoral calcinosis
hyperphosphatemic familial tumoral calcinosis
HyperPP see hyperkalemic periodic paralysis
hyperprolinemia
hyperprothrombinemia see prothrombin thrombophilia
Hyperpyrexia, Malignant see malignant hyperthermia
hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
Hyperthermia, Malignant see malignant hyperthermia
hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome see Cant� syndrome
hypertrichotic osteochondrodysplasia see Cant� syndrome
Hypertyrosinemia see tyrosinemia
Hypoalphalipoproteinemias
hypobetalipoproteinemia see familial hypobetalipoproteinemia
hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells see chylomicron retention disease
Hypobetalipoproteinemias see abetalipoproteinemia; chylomicron retention disease; familial hypobetalipoproteinemia
hypoceruloplasminemia see aceruloplasminemia
Hypochondrodysplasia see hypochondroplasia
hypochondrogenesis
hypochondroplasia
Hypocupremia, Congenital see Menkes syndrome
Hypogammaglobulinemia see X-linked agammaglobulinemia
Hypoglycemia
hypogonadism with anosmia see Kallmann syndrome
hypogonadotropic hypogonadism and anosmia see Kallmann syndrome
hypogonadotropic hypogonadism-anosmia syndrome see Kallmann syndrome
hypohidrotic ectodermal dysplasia
hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria see Gitelman syndrome
hypokalemic periodic paralysis
HypoKPP see hypokalemic periodic paralysis
hypolactasia see lactose intolerance
Hypomelia hypotrichosis facial hemangioma syndrome see Roberts syndrome
hypomyelination and congenital cataract
hypophosphatasia
hypophosphatemia see hereditary hypophosphatemic rickets
Hypopituitarism
hypoplasminogenemia see congenital plasminogen deficiency
hypoplastic congenital anemia see Diamond-Blackfan anemia
HypoPP see hypokalemic periodic paralysis
Hypoprothrombinemia see prothrombin deficiency
Hypoprothrombinemias see prothrombin deficiency
hypothalamic hamartoblastoma syndrome see Pallister-Hall syndrome
Hypotonia, obesity, and prominent incisors see Cohen syndrome
hypotrichoses see autosomal recessive hypotrichosis
hypotrichosis see autosomal recessive hypotrichosis
hypoxanthine guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
hypoxanthine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
hystrix-like ichthyosis with deafness


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