| | HMG CoA synthetase deficiency |
| | Hageman factor deficiency |
| | Hagemoser Weinstein Bresnick syndrome |
| | Hair defect with photosensitivity and mental retardation |
| | Halal Setton Wang syndrome |
| | Hall Riggs mental retardation syndrome |
| | Hallermann Streiff syndrome |
| | Hallervorden-Spatz disease |
| | Hamanishi Ueba Tsuji syndrome |
| | Hamano Tsukamoto syndrome |
| | Hamartoma sebaceus of Jadassohn |
| | Hand and foot deformity flat facies |
| | Hand foot uterus syndrome |
| | Hand wringing Rett syndrome |
| | Hand-Schuller-Christian disease |
| | Hantavirus pulmonary syndrome |
| | Hapnes Boman Skeie syndrome |
| | Hard skin syndrome Parana type |
| | Harlequin type ichthyosis |
| | Harrod Doman Keele syndrome |
| | Hartsfield Bixler Demyer syndrome |
| | Hashimoto-Pritzker syndrome |
| | Haspeslagh Fryns Muelenaere syndrome |
| | Hay Wells syndrome recessive type |
| | Heart block progressive, familial |
| | Heart defect round face congenital retarded development |
| | Heart defect tongue hamartoma polysyndactyly |
| | Heart defects limb shortening |
| | Heart hand syndrome Spanish type |
| | Heart hypertrophy, hereditary |
| | Helmerhorst Heaton Crossen syndrome |
| | Hemangioma thrombocytopenia syndrome |
| | Hemangioma, capillary infantile |
| | Hemangiomatosis, familial pulmonary capillary |
| | Hemeralopia, congenital essential |
| | Hemifacial atrophy agenesis of the caudate nucleus |
| | Hemifacial atrophy progressive |
| | Hemifacial hyperplasia strabismus |
| | Hemihypertrophy in context of NF |
| | Hemihypertrophy intestinal web corneal opacity |
| | Hemiplegic migraine, familial |
| | Hemolytic anemia lethal genital anomalies |
| | Hemolytic-uremic syndrome |
| | Hemophagocytic lymphohistiocytosis |
| | Hemophagocytic reticulosis |
| | Hemorragic fever with renal syndrome |
| | Hemorrhagic proctocolitis |
| | Hemorrhagic thrombocythemia |
| | Hemorrhagiparous thrombocytic dystrophy |
| | Hennekam Koss de Geest syndrome |
| | Hennekam Van der Horst syndrome |
| | Heparane sulfamidase deficiency |
| | Heparin-induced thrombopenia |
| | Hepatic ductular hypoplasia |
| | Hepatic fibrosis renal cysts mental retardation |
| | Hepatic veno-occlusive disease |
| | Hepatic venoocclusive disease |
| | Hepatitis, chronic autoimmune |
| | Hereditary carnitine deficiency |
| | Hereditary carnitine deficiency myopathy |
| | Hereditary carnitine deficiency syndrome |
| | Hereditary ceroid lipofuscinosis |
| | Hereditary coproporphyria |
| | Hereditary elliptocytosis |
| | Hereditary fructose intolerance |
| | Hereditary hearing disorder |
| | Hereditary hemochromatosis |
| | Hereditary hemorrhagic telangiectasia |
| | Hereditary macrothrombocytopenia |
| | Hereditary methemoglobinemia, recessive |
| | Hereditary myopathy with intranuclear filamentous |
| | Hereditary nodular heterotopia |
| | Hereditary non-spherocytic hemolytic anemia |
| | Hereditary paroxysmal cerebral ataxia |
| | Hereditary peripheral nervous disorder |
| | Hereditary primary Fanconi disease |
| | Hereditary resistance to anti-vitamin K |
| | Hereditary sensory and autonomic neuropathy 3 |
| | Hereditary sensory and autonomic neuropathy 4 |
| | Hereditary sensory neuropathy type I |
| | Hereditary sensory neuropathy type II |
| | Hereditary spastic paraplegia |
| | Hereditary spherocytic hemolytic anemia |
| | Hereditary type 1 neuropathy |
| | Hereditary type 2 neuropathy |
| | Hermansky-Pudlak syndrome |
| | Hernandez Aguire Negrete syndrome |
| | Herpes simplex encephalitis |
| | Herpes virus antenatal infection |
| | Herpesvirus simiae B virus |
| | Herrmann Opitz arthrogryposis syndrome |
| | Herrmann Opitz craniosynostosis |
| | Hersh Podruch Weisskopk syndrome |
| | Heterotaxia (generic term) |
| | Heterotaxia autosomal dominant type |
| | Heterotaxy with polysplenia or asplenia |
| | Heterotaxy, visceral, X-linked |
| | Hexosaminidases A and B deficiency |
| | Hibernian fever, familial |
| | Hidradenitis suppurativa familial |
| | Hidrotic ectodermal dysplasia type Christianson Fouris |
| | High-molecular-weight kininogen deficiency, congenital |
| | Hing Torack Dowston syndrome |
| | Hip dysplasia Beukes type |
| | Hirschsprung disease ganglioneuroblastoma |
| | Hirschsprung disease polydactyly heart disease |
| | Hirschsprung disease type 2 |
| | Hirschsprung disease type 3 |
| | Hirschsprung disease type d brachydactyly |
| | Hirschsprung microcephaly cleft palate |
| | Hirschsprung nail hypoplasia dysmorphism |
| | Hirsutism congenital gingival hyperplasia |
| | Hirsutism skeletal dysplasia mental retardation |
| | Histidinuria renal tubular defect |
| | Histiocytosis, Non-Langerhans-Cell |
| | Hittner Hirsch Kreh syndrome |
| | Hoepffner Dreyer Reimers syndrome |
| | Holmes Benacerraf syndrome |
| | Holocarboxylase synthetase deficiency |
| | Holoprosencephaly caudal dysgenesis |
| | Holoprosencephaly deletion 2p |
| | Holoprosencephaly ectrodactyly cleft lip palate |
| | Holoprosencephaly radial heart renal anomalies |
| | Holzgreve Wagner Rehder syndrome |
| | Homocarnosinase deficiency |
| | Homocystinuria due to cystathionine beta-synthase |
| | Homocystinuria due to defect in methylation (cbl g) |
| | Homocystinuria due to defect in methylation cbl e |
| | Homocystinuria due to defect in methylation, MTHFR deficiency |
| | Homologous wasting disease |
| | Homozygous hypobetalipoproteinemia |
| | Hordnes Engebretsen Knudtson syndrome |
| | Hornova Dlurosova syndrome |
| | Houlston Ironton Temple syndrome |
| | Hoyeraal Hreidarsson syndrome |
| | Human granulocytic ehrlichiosis |
| | Human monocytic ehrlichiosis |
| | Human parvovirus B19 infection |
| | Humero spinal dysostosis congenital heart disease |
| | Humeroradioulnar synostosis |
| | Humerus trochlea aplasia of |
| | Hunter Carpenter Mc donald syndrome |
| | Hunter Jurenka Thompson syndrome |
| | Hunter Macpherson syndrome |
| | Hunter Rudd Hoffmann syndrome |
| | Huriez scleroatrophic syndrome |
| | Hurst Hallam Hockey syndrome |
| | Hutchinson Gilford Progeria Syndrome |
| | Hutchinson-Gilford syndrome |
| | Hutteroth Spranger syndrome |
| | Hyalinosis systemic short stature |
| | Hyaloideoretinal degeneration of wagner |
| | Hydantoin antenatal infection |
| | Hyde Forster Mccarthy Berry syndrome |
| | Hydrocephalus - Arnold Chiari - allied disorders |
| | Hydrocephalus autosomal recessive |
| | Hydrocephalus costovertebral dysplasia Sprengel anomaly |
| | Hydrocephalus craniosynostosis bifid nose |
| | Hydrocephalus endocardial fibroelastosis cataract |
| | Hydrocephalus growth retardation skeletal anomalies |
| | Hydrocephalus obesity hypogonadism |
| | Hydrocephalus skeletal anomalies |
| | Hydrocephaly corpus callosum agenesis diaphragmatic hernia |
| | Hydrocephaly low insertion umbilicus |
| | Hydrocephaly tall stature joint laxity |
| | Hydronephrosis peculiar facial expression |
| | Hydrops ectrodactyly syndactyly |
| | Hydrops fetalis anemia immune disorder absent thumb |
| | Hydroxycarboxylic aciduria |
| | Hydroxymethylglutaricaciduria |
| | Hyperaldosteronism familial type 2 |
| | Hyperaldosteronism, familial type 1 |
| | Hyperbilirubinemia transient familial neonatal |
| | Hyperbilirubinemia type 1 |
| | Hyperbilirubinemia type 2 |
| | Hypercalcemia, familial benign |
| | Hypercalcemia, familial benign type 1 |
| | Hypercalcemia, familial benign type 2 |
| | Hypercalcemia, familial benign type 3 |
| | Hypercalcinuria idiopathic |
| | Hypercalcinuria macular coloboma |
| | Hypercholesterolemia due to LDL receptor deficiency |
| | Hypercholesterolemia due to arg3500 mutation of Apo B-100 |
| | Hypereosinophilic syndrome |
| | Hyperferritinemia, hereditary, with congenital cataracts |
| | Hyperglycinemia, isolated nonketotic |
| | Hyperglycinemia, isolated nonketotic type 1 |
| | Hyperglycinemia, isolated nonketotic type 2 |
| | Hypergonadotropic ovarian failure, familial or sporadic |
| | Hyperimmunoglobinemia D with recurrent fever |
| | Hyperimmunoglobulin E - reccurrent infection syndrome |
| | Hyperimmunoglobulinemia D with periodic fever |
| | Hyperimmunoglobulinemia E |
| | Hyperinsulinism due to focal adenomatous hyperplasia |
| | Hyperinsulinism due to glucokinase deficiency |
| | Hyperinsulinism due to glutamodehydrogenase deficiency |
| | Hyperinsulinism in children, congenital |
| | Hyperkalemic periodic paralysis |
| | Hyperkeratosis lenticularis perstans |
| | Hyperkeratosis lenticularis perstans of Flegel |
| | Hyperkeratosis palmoplantar localized acanthokeratolytic |
| | Hyperkeratosis palmoplantar localized epidermolytic |
| | Hyperkeratosis palmoplantar with palmar crease hyperkeratosis |
| | Hyperlipoproteinemia type I |
| | Hyperlipoproteinemia type II |
| | Hyperlipoproteinemia type III |
| | Hyperlipoproteinemia type IV |
| | Hyperlipoproteinemia type V |
| | Hyperornithinemia-hyperammonemia-homocitrullinuria |
| | Hyperostosid corticalis deformans juvenilis |
| | Hyperostosis cortical infantile |
| | Hyperostosis corticalis generalisata |
| | Hyperostosis frontalis interna |
| | Hyperparathyroidism, familial, primary |
| | Hyperparathyroidism, neonatal severe primary |
| | Hyperphalangism dysmorphy bronchomalacia |
| | Hyperphenilalaninemia due to pterin-4-alpha-carbin |
| | Hyperphenylalalinemia due to dihydropteridine reductase deficiency |
| | Hyperphenylalaninemia due to 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency |
| | Hyperphenylalaninemia due to GTP cyclohydrolase deficiency |
| | Hyperphenylalaninemia due to dehydratase deficiency |
| | Hyperphenylalaninemic embryopathy |
| | Hypertelorism and tetralogy of Fallot |
| | Hypertelorism hypospadias syndrome |
| | Hypertensive hyperkalemia, familial |
| | Hypertensive hypokalemia familial |
| | Hyperthermia induced defects |
| | Hyperthyroidism due to mutations in TSH receptor |
| | Hypertrichosis atrophic skin ectropion macrostomia |
| | Hypertrichosis brachydactyly obesity and mental retardation |
| | Hypertrichosis congenital generalized X linked |
| | Hypertrichosis lanuginosa congenita |
| | Hypertrichosis lanuginosa, acquired |
| | Hypertrichosis retinopathy dysmorphism |
| | Hypertrichosis, anterior cervical |
| | Hypertrichotic osteochondrodysplasia |
| | Hypertrophic branchial myopathy |
| | Hypertrophic cardiomyopathy |
| | Hypertrophic hemangiectasia |
| | Hypertrophic myocardiopathy |
| | Hypertrophic osteoarthropathy, primary or idiopathic |
| | Hypertropic neuropathy of Dejerine-Sottas |
| | Hypo-alphalipoproteinemia primary |
| | Hypoadrenocorticism hypoparathyroidism moniliasis |
| | Hypobetalipoprot-éinemia, familial |
| | Hypobetalipoproteinaemia ataxia hearing loss |
| | Hypocalcemia, autosomal dominant |
| | Hypocalcinuric hypercalcemia, familial |
| | Hypocalcinuric hypercalcemia, familial type 1 |
| | Hypocalcinuric hypercalcemia, familial type 2 |
| | Hypocalcinuric hypercalcemia, familial type 3 |
| | Hypocomplementemic urticarial vasculitis |
| | Hypodontia dysplasia of nails |
| | Hypodontia of incisors and premolars |
| | Hypofibrinogenemia, familial |
| | Hypoglycemia with deficiency of glycogen synthetase in the liver |
| | Hypogonadism cardiomyopathy |
| | Hypogonadism hypogonadotropic due to mutations in GR hormone |
| | Hypogonadism male mental retardation skeletal anomaly |
| | Hypogonadism mitral valve prolapse mental retardation |
| | Hypogonadism primary partial alopecia |
| | Hypogonadism retinitis pigmentosa |
| | Hypogonadism, isolated, hypogonadotropic |
| | Hypogonadotropic hypogonadism syndactyly |
| | Hypogonadotropic hypogonadism without anosmia, X linked |
| | Hypogonadotropic hypogonadism-anosmia |
| | Hypogonadotropic hypogonadism-anosmia, X linked |
| | Hypohidrotic Ectodermal Dysplasia |
| | Hypokalemic alkalosis with hypercalcinuria |
| | Hypokalemic periodic paralysis |
| | Hypokaliemic periodic paralysis type 1 |
| | Hypoketonemic hypoglycemia |
| | Hypomandibular faciocranial dysostosis |
| | Hypomelia mullerian duct anomalies |
| | Hypoparathyroidism X linked |
| | Hypoparathyroidism familial isolated |
| | Hypoparathyroidism nerve deafness nephrosis |
| | Hypoparathyroidism short stature |
| | Hypoparathyroidism short stature mental retardation |
| | Hypophosphatasia, infantile |
| | Hypopigmentation oculocerebral syndrome Cross type |
| | Hypopituitarism micropenis cleft lip palate |
| | Hypopituitarism postaxial polydactyly |
| | Hypoplasia hepatic ductular |
| | Hypoplasia of the tibia with polydactyly |
| | Hypoplastic left heart syndrome |
| | Hypoplastic right heart microcephaly |
| | Hypoplastic thumb mullerian aplasia |
| | Hypoplastic thumbs hydranencephaly |
| | Hyporeninemic hypoaldosteronism |
| | Hyposmia nasal hypoplasia hypogonadism |
| | Hypospadias mental retardation Goldblatt type |
| | Hypotelorism cleft palate hypospadias |
| | Hypothalamic hamartoblastoma syndrome |
| | Hypothyroidism due to iodide transport defect |
| | Hypothyroidism postaxial polydactyly mental retardation |
| | Hypotonic sclerotic muscular dystrophy |
| | Hypotrichosis mental retardation Lopes type |
| | Hypoxanthine guanine phosphoribosyltransferase deficiency |
| |