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Y-Z
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
see
androgenetic alopecia
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
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 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-Sjögren syndrome
Hereditary onycho-osteodysplasia
see
nail-patella syndrome
Hereditary Opalescent Dentin
see
dentinogenesis imperfecta
Hereditary optic neuroretinopathy
see
Leber hereditary optic neuropathy
Hereditary Osteo-Onychodysplasias
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 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-Zweymüller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia
see
Weissenbacher-Zweymüller 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
Hornstein-Birt-Hogg-Dubé syndrome
see
Birt-Hogg-Dubé syndrome
Hornstein-Knickenberg syndrome
see
Birt-Hogg-Dubé 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
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
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
Cantú syndrome
hypertrichotic osteochondrodysplasia
see
Cantú 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
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
hypoxanthine guanine phosphoribosyltransferase deficiency
see
Lesch-Nyhan syndrome
hypoxanthine phosphoribosyltransferase deficiency
see
Lesch-Nyhan syndrome
hystrix-like ichthyosis with deafness
Published: February 11, 2013