Health Conditions
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 C, see factor XI deficiency
- Hailey-Hailey disease, see benign chronic pemphigus
- 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 duplication, postaxial polydactyly, and absence of corpus callosum, see acrocallosal syndrome
- 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
- 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 thyroiditis
- Hashimoto struma, see Hashimoto thyroiditis
- Hashimoto syndrome, see Hashimoto thyroiditis
- Hashimoto thyroiditis
- Hashimoto's disease, see Hashimoto thyroiditis
- 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
- HBBD, see progressive familial heart block
- HbS disease, see sickle cell disease
- HC, see hereditary hemochromatosis
- HCAHC, see Pol III-related leukodystrophy
- 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
- 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
- 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 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 dementia
- 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 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 motor neuronopathy, see spinal muscular atrophy
- 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, see spastic paraplegia type 7
- 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 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
- Hers disease, see glycogen storage disease type VI
- heterotaxy, see heterotaxy syndrome
- heterotaxy syndrome
- 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 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
- 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 17β-hydroxysteroid dehydrogenase type 10 deficiency
- 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
- HVDAS, see ADNP 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 17β-hydroxysteroid dehydrogenase type 10 deficiency
- 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 autosomal recessive hyper-IgE syndrome
- hyper immunoglobulin E syndrome, autosomal recessive, see autosomal recessive hyper-IgE 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, Rotor type, see Rotor syndrome
- hypercalcemia-supravalvar aortic stenosis, see Williams syndrome
- hypercholesterolemia
- 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
- Hyperglycinemia, Nonketotic, see glycine encephalopathy
- hyperhistidinemia, see histidinemia
- hyperimidodipeptiduria, see prolidase deficiency
- hyperimmunoglobulin D with periodic fever, see mevalonate kinase deficiency
- hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive, see autosomal recessive hyper-IgE syndrome
- hyperimmunoglobulin E syndrome type 2, see autosomal recessive hyper-IgE syndrome
- hyperimmunoglobulinemia D, see mevalonate kinase deficiency
- hyperinsulinemia hypoglycemia of infancy, see congenital hyperinsulinism
- hyperkalemic periodic paralysis
- hyperkeratosis, epidermolytic, see epidermolytic hyperkeratosis
- 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
- 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
- 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
- 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
- hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome, see Woodhouse-Sakati syndrome
- hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, see Woodhouse-Sakati syndrome
- hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities, see Woodhouse-Sakati 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
- hypomyelination and congenital cataract
- 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
- 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
- hypospadias-dysphagia syndrome, see Opitz G/BBB 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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