Health Conditions (H) - Genetics Home Reference (H)

Health Conditions - Genetics Home Reference

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
• 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 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 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 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
• 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
• 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
• 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 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 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
• 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
• 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
• hypomyelinating leukodystrophy 2, see Pelizaeus-Merzbacher-like disease type 1
• hypomyelinating leukodystrophy, 1, see Pelizaeus-Merzbacher disease
• 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
• hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome, see Bosma arhinia microphthalmia syndrome
• 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