Health Conditions - Genetics Home Reference: H | Published: January 24, 2017

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• 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
• 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
• 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
• 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, 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 cirrhosis, dystonia, polycythaemia, and hypermanganesaemia, see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia, see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hepatic ductular hypoplasia, see Alagille syndrome
• hepatic glycogen phosphorylase deficiency, see glycogen storage disease type VI
• hepatic 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
• 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 myoclonus, see myoclonus-dystonia
• 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 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 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 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, see spastic paraplegia type 7
• hereditary spastic paraplegia 8, see spastic paraplegia type 8
• hereditary spastic paraplegia, paraplegin type, see spastic paraplegia type 7
• hereditary spherocytosis
• 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
• 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
• 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
• 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
• HMDPC, see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• HMERF, see hereditary myopathy with early respiratory failure
• HMG, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 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
• 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
• 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
• 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
• 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
• 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
• 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, polycythemia, and cirrhosis
• 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
• hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome, see Cantú syndrome
• hypertrichotic osteochondrodysplasia, see Cantú syndrome
• 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
• 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