Genetic Conditions: H

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
• 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 deficiency, type 2, see Familial HDL deficiency
• HDL lipoprotein deficiency disease, see Tangier disease
• 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
• Hepatocerebral mitochondrial DNA depletion syndrome, see Deoxyguanosine kinase deficiency
• 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, see Inclusion body myopathy 2
• 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 Charcot-Marie-Tooth disease
• Hereditary motor and sensory neuropathy, see Hereditary neuropathy with liability to pressure palsies
• 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 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, see Troyer syndrome
• 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-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
• 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
• HIBM, see Inclusion body myopathy 2
• 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
• 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
• 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 disease
• Huntington chronic progressive hereditary chorea, see Huntington disease
• Huntington disease
• Huntington disease-like syndrome
• Huntington disease-like syndromes, see Huntington disease-like syndrome
• Huntington's chorea, see Huntington disease
• Huntington's disease, see Huntington disease
• Huntington's disease phenocopies, see Huntington disease-like syndrome
• Huntington's disease phenocopy syndromes, see Huntington disease-like syndrome
• Huntington's disease-like syndromes, see Huntington disease-like syndrome
• 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, postaxial polydactyly, and congenital heart malformation, 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
• Hypochondrogenesis
• 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