Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
- H-CK, see Isolated hyperCKemia
- Haberland syndrome (formerly), see Encephalocraniocutaneous lipomatosis
- 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 Hereditary hemochromatosis
- Haemophilia, see Hemophilia
- Haemophilia C, see Factor XI deficiency
- Hailey-Hailey disease
- Hajdu-Cheney syndrome
- HAL deficiency, see Histidinemia
- Hall-Hittner syndrome, see CHARGE syndrome
- Hall-Pallister syndrome, see Pallister-Hall syndrome
- Hallgren syndrome, see Usher syndrome
- Hallux abductovalgus, see Bunion
- Hallux duplication, postaxial polydactyly, and absence of corpus callosum, see Acrocallosal syndrome
- Hallux valgus, see Bunion
- Hamel cerebropalatocardiac syndrome, see Renpenning syndrome
- HANAC, see Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- HANAC syndrome, see Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hand-foot-genital syndrome
- Hand-foot-uterus syndrome, see Hand-foot-genital syndrome
- HANE, see Hereditary angioedema
- Hansen disease, see Leprosy
- Hansen's disease, see Leprosy
- Happle syndrome, see X-linked chondrodysplasia punctata 2
- HARD syndrome, see Walker-Warburg syndrome
- Harlequin baby syndrome, see Harlequin ichthyosis
- Harlequin ichthyosis
- Hartnup disease
- Hartnup disorder, see Hartnup disease
- Hartnup's disease, see Hartnup disease
- Hartsfield syndrome
- Hartsfield-Bixler-Demyer syndrome, see Hartsfield syndrome
- Hashimoto disease, see Hashimoto's disease
- Hashimoto struma, see Hashimoto's disease
- Hashimoto syndrome, see Hashimoto's disease
- Hashimoto thyroidosis, see Hashimoto's disease
- Hashimoto's disease
- Hashimoto-Pritzger disease, see Langerhans cell histiocytosis
- hATTR, see Transthyretin amyloidosis
- HAV, see Bunion
- Haw River syndrome, see Dentatorubral-pallidoluysian atrophy
- Hay-Wells syndrome, see Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- HBBD, see Progressive familial heart block
- HbS disease, see Sickle cell disease
- HBSL, see Hypomyelination with brainstem and spinal cord involvement and leg spasticity
- HC, see Hereditary hemochromatosis
- HCAHC, see Pol III-related leukodystrophy
- HCC, see Hypomyelination and congenital cataract
- HCH, see Hypochondroplasia
- HCHWA-D, see Hereditary cerebral amyloid angiopathy
- HCHWA-I, see Hereditary cerebral amyloid angiopathy
- HCM, see Familial hypertrophic cardiomyopathy
- HDDD1, see GRN-related frontotemporal lobar degeneration
- HDDD2, see GRN-related frontotemporal lobar degeneration
- HDGC, see Hereditary diffuse gastric cancer
- HDL, see Huntington's disease-like
- HDL deficiency, type 2, see Familial HDL deficiency
- HDL lipoprotein deficiency disease, see Tangier disease
- HDL syndrome, see Huntington's disease-like
- HDLD, see Familial HDL deficiency
- Head and neck squamous cell carcinoma
- Headache migraine, see Migraine
- Headache migrainous, see Migraine
- Hearing loss, age-related, see Age-related hearing loss
- Heart-hand syndrome, type 1, see Holt-Oram syndrome
- HED, see Hypohidrotic ectodermal dysplasia
- HED-ID, see Anhidrotic ectodermal dysplasia with immune deficiency
- HED2, see Clouston syndrome
- Helsmoortel-van der Aa syndrome, see ADNP syndrome
- HEM dysplasia, see Greenberg dysplasia
- HEM skeletal dysplasia, see Greenberg dysplasia
- 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
- Hemochromatosis, see Hereditary hemochromatosis
- Hemoglobin M disease, see Methemoglobinemia, beta-globin type
- Hemoglobin S disease, see Sickle cell disease
- Hemoglobinuria, paroxysmal, see Paroxysmal nocturnal hemoglobinuria
- Hemophagocytic syndrome, see Familial hemophagocytic lymphohistiocytosis
- Hemophilia
- Hemophilia C, see Factor XI deficiency
- Hemophilia, familial, see Hemophilia
- Hemophilia, hereditary, see Hemophilia
- Hemorrhagic familial nephritis, see Alport syndrome
- Hemorrhagic hereditary nephritis, see Alport syndrome
- Hemorrhagioparous thrombocytic dystrophy, see Bernard-Soulier syndrome
- Hennekam lymphangiectasia-lymphedema syndrome, see Hennekam syndrome
- Hennekam syndrome
- Hepatic AGT deficiency, see Primary hyperoxaluria
- Hepatic ductular hypoplasia, see Alagille syndrome
- Hepatic glycogen phosphorylase deficiency, see Glycogen storage disease type VI
- Hepatic lipase deficiency
- Hepatic methionine adenosyltransferase deficiency, see Hypermethioninemia
- Hepatic veno-occlusive disease with immunodeficiency
- Hepatic venoocclusive disease with immunodeficiency, see Hepatic veno-occlusive disease with immunodeficiency
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, see Combined oxidative phosphorylation deficiency 1
- Hepatofacioneurocardiovertebral syndrome, see Alagille syndrome
- Hepatolenticular degeneration syndrome, see Wilson disease
- Hepatorenal form of glycogen storage disease, see Glycogen storage disease type I
- Hepatorenal glycogenosis, see Glycogen storage disease type I
- Hereditary aldosteronism, see Familial hyperaldosteronism
- Hereditary angioedema
- Hereditary angioneurotic edema, see Hereditary angioedema
- Hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome, see Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- 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 brachial plexus neuropathy, see Hereditary neuralgic amyotrophy
- Hereditary bundle branch defect, see Progressive familial heart block
- Hereditary bundle branch system defect, see Progressive familial heart block
- Hereditary cerebral amyloid angiopathy
- Hereditary cerebral hemorrhage with amyloidosis-Dutch type, see Hereditary cerebral amyloid angiopathy
- Hereditary cerebral hemorrhage with amyloidosis-Icelandic type, see Hereditary cerebral amyloid angiopathy
- Hereditary ceruloplasmin deficiency, see Aceruloplasminemia
- Hereditary chronic pancreatitis, see Hereditary pancreatitis
- Hereditary cranium bifidum, see Enlarged parietal foramina
- Hereditary dementia, multi-infarct type, see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Hereditary desmoid disease, see Desmoid tumor
- Hereditary diffuse gastric adenocarcinoma, see Hereditary diffuse gastric cancer
- Hereditary diffuse gastric cancer
- Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia, see Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- Hereditary dysphasic disinhibition dementia, see GRN-related frontotemporal lobar degeneration
- Hereditary dystopic lipidosis, see Fabry disease
- Hereditary epithelial dysplasia of retina, see Leber congenital amaurosis
- Hereditary erythrocytosis, see Familial erythrocytosis
- Hereditary essential tremor, see Essential tremor
- Hereditary factor I deficiency disease, see Complement factor I deficiency
- Hereditary familial congenital hemorrhagic nephritis, see Alport syndrome
- Hereditary ferritinopathy, see Neuroferritinopathy
- Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- Hereditary folate malabsorption
- Hereditary fructose intolerance
- Hereditary glaucoma, see Early-onset glaucoma
- Hereditary gynecomastia, see Aromatase excess syndrome
- Hereditary haemochromatosis, see Hereditary hemochromatosis
- Hereditary hematuria syndrome, see Alport syndrome
- Hereditary hemochromatosis
- Hereditary hemorrhagic telangiectasia
- Hereditary hemorrhagic thrombasthenia, see Glanzmann thrombasthenia
- Hereditary hyperekplexia
- Hereditary hyperferritinemia with congenital cataracts, see Hyperferritinemia-cataract syndrome
- Hereditary hyperferritinemia-cataract syndrome, see Hyperferritinemia-cataract syndrome
- Hereditary hyperparathyroidism-jaw tumor syndrome, see Hyperparathyroidism-jaw tumor syndrome
- Hereditary hypophosphatemic rickets
- Hereditary inclusion body myopathy type 2, see GNE myopathy
- Hereditary insensitivity to pain with anhidrosis, see Congenital insensitivity to pain with anhidrosis
- Hereditary interstitial pyelonephritis, see Alport syndrome
- Hereditary iron-loading anemia, see X-linked sideroblastic anemia
- Hereditary leiomyomatosis and renal cell cancer
- Hereditary leiomyomatosis and renal cell carcinoma, see Hereditary leiomyomatosis and renal cell cancer
- Hereditary leukokeratosis, see White sponge nevus
- Hereditary lymphedema II, see Meige disease
- Hereditary lymphedema type I, see Milroy disease
- Hereditary motor and sensory neuropathy, see Hereditary neuropathy with liability to pressure palsies
- 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 mucosal leukokeratosis, see White sponge nevus
- Hereditary multicentric osteolysis, see Multicentric osteolysis, nodulosis, and arthropathy
- Hereditary multiple benign cystic epithelioma, see Multiple familial trichoepithelioma
- Hereditary multiple exostoses, see Hereditary multiple osteochondromas
- Hereditary multiple osteochondromas
- Hereditary myoclonus with progressive distal muscular atrophy, see Spinal muscular atrophy with progressive myoclonic epilepsy
- 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 nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency, see Triosephosphate isomerase deficiency
- 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 oral keratosis, see White sponge nevus
- Hereditary osteo-onychodysplasia, see Nail-patella syndrome
- Hereditary osteodysplasia with acro-osteolysis, see Hajdu-Cheney syndrome
- Hereditary pancreatitis
- Hereditary paraganglioma-pheochromocytoma
- Hereditary paraganglioma-pheochromocytoma syndromes, see Hereditary paraganglioma-pheochromocytoma
- Hereditary pheochromocytoma-paraganglioma, see Hereditary paraganglioma-pheochromocytoma
- Hereditary pressure sensitive neuropathy, see Hereditary neuropathy with liability to pressure palsies
- Hereditary progressive dystonia with marked diurnal fluctuation, see Dopa-responsive dystonia
- Hereditary pulmonary emphysema, see Alpha-1 antitrypsin deficiency
- Hereditary renal hypouricemia, see Renal hypouricemia
- Hereditary resistance to activated protein C, see Factor V Leiden thrombophilia
- Hereditary retinal aplasia, see Leber congenital amaurosis
- Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, see Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- Hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss, see Hereditary sensory and autonomic neuropathy type IE
- Hereditary sensory and autonomic neuropathy type 2, see Hereditary sensory and autonomic neuropathy type II
- 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 and autonomic neuropathy, type 4, see Congenital insensitivity to pain with anhidrosis
- Hereditary sensory and autonomic neuropathy, type 5, see Hereditary sensory and autonomic neuropathy type V
- Hereditary sensory and autonomic neuropathy, type IA, see Hereditary sensory neuropathy type IA
- Hereditary sensory neuropathy type IA
- Hereditary sensory neuropathy type IE, see Hereditary sensory and autonomic neuropathy type IE
- Hereditary spastic paraplegia 8, see Spastic paraplegia type 8
- Hereditary spastic paraplegia, paraplegin type, see Spastic paraplegia type 7
- Hereditary spherocytosis
- Hereditary SWI/SNF deficiency syndrome, see Rhabdoid tumor predisposition syndrome
- Hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples, see Scalp-ear-nipple syndrome
- Hereditary thrombasthenia, see Glanzmann thrombasthenia
- 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 tyrosinemia, see Tyrosinemia
- Hereditary unconjugated hyperbilirubinemia, see Crigler-Najjar syndrome
- Hereditary unresponsiveness to adrenocorticotropic hormone, see Familial glucocorticoid deficiency
- Hereditary ventricular hypertrophy, see Familial hypertrophic cardiomyopathy
- Hereditary X-linked recessive spastic paraplegia, see Spastic paraplegia type 2
- Hereditary xanthinuria
- Heredofamilial neuritis with brachial plexus predilection, see Hereditary neuralgic amyotrophy
- Heredopathia atactica polyneuritiformis, see Refsum disease
- Heredoretinopathia congenitalis, see Leber congenital amaurosis
- Heritable hypertrophic cardiomyopathy, see Familial hypertrophic cardiomyopathy
- Hermansky-Pudlak syndrome
- Hernia, abdominal, see Abdominal wall defect
- Herpes zoster, see Shingles
- Hers disease, see Glycogen storage disease type VI
- Heterotaxy, see Heterotaxy syndrome
- Heterotaxy syndrome
- Heterotopia, subcortical band, see Subcortical band heterotopia
- 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 activator deficiency
- 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
- HFP, see Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- HFTC, see Hyperphosphatemic familial tumoral calcinosis
- HFU syndrome, see Hand-foot-genital syndrome
- HGPPS, see Horizontal gaze palsy with progressive scoliosis
- HGPRT deficiency, see Lesch-Nyhan syndrome
- HGPS, see Hutchinson-Gilford progeria syndrome
- HH, see Hereditary hemochromatosis
- HHCS, see Hyperferritinemia-cataract syndrome
- HHES, see Hartsfield syndrome
- HHH syndrome, see Ornithine translocase deficiency
- HHT, see Hereditary hemorrhagic telangiectasia
- HI, see Harlequin ichthyosis
- HIBM2, see GNE myopathy
- HID syndrome, see Hystrix-like ichthyosis with deafness
- Hidradenitides, suppurative, see Hidradenitis suppurativa
- Hidradenitis suppurativa
- Hidradenitis, suppurative, see Hidradenitis suppurativa
- Hidrotic ectodermal dysplasia 2, see Clouston syndrome
- High blood pressure, see Hypertension
- High myopia and sensorineural deafness, see Deafness and myopia syndrome
- High myopia-sensorineural deafness syndrome, see Deafness and myopia syndrome
- 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
- Hirschsprung's disease, see Hirschsprung disease
- HIS deficiency, see Histidinemia
- Histidase deficiency, see Histidinemia
- Histidine ammonia-lyase deficiency, see Histidinemia
- Histidinemia
- Histidinuria, see Histidinemia
- Histiocytic medullary reticulosis, see Omenn syndrome
- Histiocytosis X, see Langerhans cell histiocytosis
- Histiocytosis-lymphadenopathy plus syndrome
- HIVEP2-related intellectual disability
- HJCYS, see Hajdu-Cheney syndrome
- HL deficiency, see Hepatic lipase deficiency
- HLA class I deficiency, see Bare lymphocyte syndrome type I
- HLAH, see Hereditary hemochromatosis
- HLCS deficiency, see Holocarboxylase synthetase deficiency
- HLD1, see Pelizaeus-Merzbacher disease
- HLD2, see Pelizaeus-Merzbacher-like disease type 1
- HLD7, see Pol III-related leukodystrophy
- HLD8, see Pol III-related leukodystrophy
- HLRCC, see Hereditary leiomyomatosis and renal cell cancer
- HMCS, see McKusick-Kaufman syndrome
- HMERF, see Hereditary myopathy with early respiratory failure
- HMG, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- HMG-CoA lyase deficiency, 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
- HMNDYT, see Hypermanganesemia with dystonia
- HMNVI, see Spinal muscular atrophy with respiratory distress type 1
- HMSN, see Charcot-Marie-Tooth disease
- HMSN IV, see Refsum disease
- HMSN type IV, see Refsum disease
- HMSN/ACC, see Andermann syndrome
- HNA, see Hereditary neuralgic amyotrophy
- HNFJ1, see Autosomal dominant tubulointerstitial kidney disease-UMOD
- HNPCC, see Lynch syndrome
- HNPP, see Hereditary neuropathy with liability to pressure palsies
- HNSCC, see Head and neck squamous cell carcinoma
- HOGA, see Gyrate atrophy of the choroid and retina
- HOKPP, see Hypokalemic periodic paralysis
- Holocarboxylase synthetase deficiency
- Holoprosencephaly and split hand/foot syndrome, see Hartsfield syndrome
- Holoprosencephaly sequence, see Nonsyndromic holoprosencephaly
- Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate, see Hartsfield syndrome
- Holoprosencephaly, hypertelorism, and ectrodactyly syndrome, see Hartsfield syndrome
- Holt-Oram syndrome
- HOMG, see Hypomagnesemia with secondary hypocalcemia
- Homocysteinemia, see Homocystinuria
- Homocystinuria
- Homogentisic acid oxidase deficiency, see Alkaptonuria
- Homogentisic acidura, see Alkaptonuria
- Homozygous PAI-1 deficiency, see Complete plasminogen activator inhibitor 1 deficiency
- Honeycomb myocardium, see Left ventricular noncompaction
- Horizontal gaze palsy with progressive scoliosis
- Horner syndrome
- Horner's syndrome, see Horner syndrome
- Hornstein-Birt-Hogg-Dubé syndrome, see Birt-Hogg-Dubé syndrome
- Hornstein-Knickenberg syndrome, see Birt-Hogg-Dubé syndrome
- HOS, see Holt-Oram syndrome
- HP, see Hereditary pancreatitis
- HPLH, see Familial hemophagocytic lymphohistiocytosis
- HPS, see Hermansky-Pudlak syndrome
- HPT-JT, see Hyperparathyroidism-jaw tumor syndrome
- HS, see Hereditary spherocytosis
- HSAN IA, see Hereditary sensory neuropathy type IA
- 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
- HSAN1A, see Hereditary sensory neuropathy type IA
- HSAN1E, see Hereditary sensory and autonomic neuropathy type IE
- HSAN2, see Hereditary sensory and autonomic neuropathy type II
- HSAN2A, see Hereditary sensory and autonomic neuropathy type II
- HSAN2B, see Hereditary sensory and autonomic neuropathy type II
- HSAN2C, see Hereditary sensory and autonomic neuropathy type II
- HSAN2D, 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 HSD10 disease
- HSD10 disease
- HSH, see Hypomagnesemia with secondary hypocalcemia
- HSN IA, see Hereditary sensory neuropathy type IA
- HSN IE, see Hereditary sensory and autonomic neuropathy type IE
- HSN type II, see Hereditary sensory and autonomic neuropathy type II
- HSN-III, see Familial dysautonomia
- HSN1A, see Hereditary sensory neuropathy type IA
- HSNIE, see Hereditary sensory and autonomic neuropathy type IE
- HSP-TCC, see Spastic paraplegia type 11
- HTL, see Autosomal recessive hypotrichosis
- HTX, see Heterotaxy syndrome
- Hughes syndrome, see Antiphospholipid syndrome
- Humero-spinal dysostosis, see CHST3-related skeletal dysplasia
- Hunter syndrome, see Mucopolysaccharidosis type II
- Huntington chorea, see Huntington's disease
- Huntington chronic progressive hereditary chorea, see Huntington's disease
- Huntington disease, see Huntington's disease
- Huntington disease-like syndrome, see Huntington's disease-like
- Huntington disease-like syndromes, see Huntington's disease-like
- Huntington's chorea, see Huntington's disease
- Huntington's disease
- Huntington's disease phenocopies, see Huntington's disease-like
- Huntington's disease phenocopy syndromes, see Huntington's disease-like
- Huntington's disease-like
- Huntington's disease-like syndrome, see Huntington's disease-like
- Huntington's disease-like syndromes, see Huntington's disease-like
- Hurler syndrome, see Mucopolysaccharidosis type I
- Hurler-Scheie syndrome, see Mucopolysaccharidosis type I
- Hutchinson-Gilford progeria syndrome
- Hutchinson-Gilford syndrome, see Hutchinson-Gilford progeria syndrome
- Hutterite syndrome, see Bowen-Conradi syndrome
- HV, see Bunion
- HVDAS, see ADNP syndrome
- Hyaline fibromatosis syndrome
- Hyalinosis cutis et mucosae, see Lipoid proteinosis
- Hyaloideoretinal degeneration of Wagner, see Wagner syndrome
- Hydrocephalus, agyria, and retinal dysplasia, see Walker-Warburg syndrome
- Hydrocephalus, internal, Dandy-Walker type, see Dandy-Walker malformation
- Hydrocephalus, noncommunicating, Dandy-Walker type, see Dandy-Walker malformation
- Hydrometrocolpos syndrome, see McKusick-Kaufman syndrome
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation, see McKusick-Kaufman syndrome
- Hydrometrocolpos-postaxial polydactyly syndrome, see McKusick-Kaufman syndrome
- Hydronephrosis with peculiar facial expression, see Ochoa syndrome
- Hydronephrosis-inverted smile, see Ochoa syndrome
- Hydrops - ectopic calcification - moth-eaten skeletal dysplasia, see Greenberg dysplasia
- Hydroxyacyl-CoA dehydrogenase II deficiency, see HSD10 disease
- Hydroxymethylglutaric aciduria, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Hyper IgD syndrome, see Mevalonate kinase deficiency
- Hyper IgE recurrent infection syndrome, autosomal recessive, see DOCK8 immunodeficiency syndrome
- Hyper immunoglobulin E syndrome, autosomal recessive, see DOCK8 immunodeficiency syndrome
- Hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia, see Anhidrotic ectodermal dysplasia with immune deficiency
- Hyper-IgM syndrome 1, see X-linked hyper IgM syndrome
- Hyperaldosteronism, familial, see Familial hyperaldosteronism
- Hyperammonemia due to carbonic anhydrase VA deficiency, see Carbonic anhydrase VA deficiency
- Hyperammonemia, type III, see N-acetylglutamate synthase deficiency
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, see Carbonic anhydrase VA deficiency
- Hyperargininemia, see Arginase deficiency
- Hyperbilirubinemia 1, see Gilbert syndrome
- Hyperbilirubinemia II, see Dubin-Johnson syndrome
- Hyperbilirubinemia, Dubin-Johnson type, see Dubin-Johnson syndrome
- Hyperbilirubinemia, Rotor type, see Rotor syndrome
- Hypercalcemia-supravalvar aortic stenosis, see Williams syndrome
- Hypercortisolism, see Cushing disease
- Hyperdibasic aminoaciduria, see Lysinuric protein intolerance
- Hyperekplexia, see Hereditary hyperekplexia
- Hyperferritinemia-cataract syndrome
- Hyperfibrinolysis due to PAI1 deficiency, see Complete plasminogen activator inhibitor 1 deficiency
- Hyperglycinemia with ketoacidosis and leukopenia, see Propionic acidemia
- Hyperhistidinemia, see Histidinemia
- Hyperimidodipeptiduria, see Prolidase deficiency
- Hyperimmunoglobulin D with periodic fever, see Mevalonate kinase deficiency
- Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive, see DOCK8 immunodeficiency syndrome
- Hyperimmunoglobulin E syndrome type 2, see DOCK8 immunodeficiency syndrome
- Hyperimmunoglobulinemia D, see Mevalonate kinase deficiency
- Hyperinsulinemia hypoglycemia of infancy, see Congenital hyperinsulinism
- Hyperkalemic periodic paralysis
- Hyperkeratosis, epidermolytic, see Epidermolytic hyperkeratosis
- Hyperkinetic disorder, see Attention-deficit/hyperactivity disorder
- Hyperkinetic syndrome, see Attention-deficit/hyperactivity disorder
- HyperKPP, see Hyperkalemic periodic paralysis
- Hyperlipidemia due to hepatic triglyceride lipase deficiency, see Hepatic lipase deficiency
- Hyperlipoproteinemia type I, see Familial lipoprotein lipase deficiency
- Hyperlipoproteinemia type Ia, see Familial lipoprotein lipase deficiency
- Hyperlysinemia
- Hypermanganesemia with dystonia
- Hypermethioninemia
- Hypermetropia, see Farsightedness
- Hyperopia, see Farsightedness
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, see Ornithine translocase deficiency
- Hyperornithinemia with gyrate atrophy of choroid and retina, see Gyrate atrophy of the choroid and retina
- Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, see Ornithine translocase deficiency
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, see Ornithine translocase deficiency
- Hyperostosis corticalis deformans juvenilis, see Juvenile Paget disease
- Hyperostosis corticalis generalisata, see SOST-related sclerosing bone dysplasia
- Hyperostosis, monomelic, see Melorheostosis
- Hyperotosis corticalis generalisata familiaris, see SOST-related sclerosing bone dysplasia
- Hyperoxaluria, primary, see Primary hyperoxaluria
- Hyperparathyroidism 1, see Familial isolated hyperparathyroidism
- Hyperparathyroidism 2, see Hyperparathyroidism-jaw tumor syndrome
- Hyperparathyroidism-jaw tumor syndrome
- 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 with mental retardation syndrome, see Mabry syndrome
- Hyperphosphatasia with seizures and neurologic deficit, see Mabry syndrome
- Hyperphosphatasia, familial idiopathic, see Juvenile Paget disease
- Hyperphosphatemia hyperostosis, see Hyperphosphatemic familial tumoral calcinosis
- Hyperphosphatemia hyperostosis syndrome, 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 with esophageal abnormalities and hypospadias, see Opitz G/BBB syndrome
- Hypertelorism-hypospadias sydrome, see Opitz G/BBB syndrome
- Hypertension
- Hyperthermia, malignant, see Malignant hyperthermia
- Hypertrabeculation syndrome, see Left ventricular noncompaction
- Hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome, see Cantú syndrome
- Hypertrichotic osteochondrodysplasia, see Cantú syndrome
- Hypertrophic arthritis, see Osteoarthritis
- Hypertyrosinaemia, see Tyrosinemia
- Hypertyrosinemia, see Tyrosinemia
- Hypobetalipoproteinemia, see Familial hypobetalipoproteinemia
- Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells, see Chylomicron retention disease
- Hypoceruloplasminemia, see Aceruloplasminemia
- Hypochondrodysplasia, see Hypochondroplasia
- Hypochondroplasia
- Hypochromic microcytic anemia with iron overload
- Hypocupremia, congenital, see Menkes syndrome
- Hypogammaglobulinemia, see X-linked agammaglobulinemia
- Hypoglycemia with deficiency of glycogen synthetase, see Glycogen storage disease type 0
- Hypogonadism with anosmia, see Kallmann syndrome
- Hypogonadotropic hypogonadism and anosmia, see Kallmann syndrome
- Hypogonadotropic hypogonadism-anosmia syndrome, see Kallmann syndrome
- Hypohidrotic ectodermal dysplasia
- Hypohidrotic ectodermal dysplasia with immune deficiency, see Anhidrotic ectodermal dysplasia with immune deficiency
- Hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria, see Gitelman syndrome
- Hypokalemic periodic paralysis
- HypoKPP, see Hypokalemic periodic paralysis
- Hypolactasia, see Lactose intolerance
- Hypomagnesemia with secondary hypocalcemia
- Hypomagnesemic tetany, see Hypomagnesemia with secondary hypocalcemia
- Hypomelia hypotrichosis facial hemangioma syndrome, see Roberts syndrome
- Hypomyelinating leukodystrophy 2, see Pelizaeus-Merzbacher-like disease type 1
- Hypomyelinating leukodystrophy, 1, see Pelizaeus-Merzbacher disease
- Hypomyelination and congenital cataract
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity, see Hypomyelination with brainstem and spinal cord involvement and leg spasticity
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
- Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum, see Pol III-related leukodystrophy
- Hypomyelination, hypodontia, hypogonadotropic hypogonadism, see Pol III-related leukodystrophy
- Hyponychia congenita, see Anonychia congenita
- Hypophosphatasia
- Hypophosphatemia, see Hereditary hypophosphatemic rickets
- Hypopigmentation immunodeficiency disease, see Griscelli syndrome
- Hypopigmentation-deafness syndrome, see Tietz syndrome
- Hypopigmentation/deafness of Tietz, see Tietz syndrome
- Hypoplasia of spleen, see Isolated congenital asplenia
- Hypoplasminogenemia, see Congenital plasminogen deficiency
- Hypoplastic congenital anemia, see Diamond-Blackfan anemia
- HypoPP, see Hypokalemic periodic paralysis
- Hypoproconvertinemia, see Factor VII deficiency
- Hypoprothrombinemia, see Prothrombin deficiency
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome, see Bosma arhinia microphthalmia syndrome
- Hypospadias-dysphagia syndrome, see Opitz G/BBB syndrome
- Hyposplenia, isolated congenital, see Isolated congenital asplenia
- Hypotension, orthostatic, see Orthostatic hypotension
- Hypotension, postural, see Orthostatic hypotension
- 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