H

492 rare conditions. 131 with a recruiting study in our latest snapshot.

H syndrome19 recruitingView → Haddad syndrome1 recruitingView → Hailey-Hailey Disease2 recruitingDermatologicalView → Haim-Munk syndromeView → Hair anomalyGroupView → Hair defect-photosensitivity-intellectual disability syndromeView → Hairy cell leukemia variant3 recruitingBloodView → Hajdu-Cheney syndromeView → Hall-Riggs syndromeView → Hallermann-Streiff syndromeView → Hallermann-Streiff-like syndromeView → Hallux varus-preaxial polysyndactyly syndromeView → Hamel cerebro-palato-cardiac syndromeView → HANAC syndromeView → Hand-foot-genital syndromeView → Hantavirus pulmonary syndrome4 recruitingRespiratoryView → Hao-Fountain syndromeView → Hao-Fountain syndrome due to 16p13.2 microdeletionView → Hao-Fountain syndrome due to USP7 mutationView → HarderoporphyriaBloodView → Hardikar syndromeView → Harlequin ichthyosisDermatologicalView → Harlequin syndromeView → HARP syndrome2 recruitingView → Harrod syndromeView → Hartnup diseaseView → Hartsfield syndromeView → HawkinsinuriaView → HbSC Disease1 recruitingBloodView → Hearing loss-familial salivary gland insensitivity to aldosterone syndromeView → Heart defect-tongue hamartoma-polysyndactyly syndromeView → Heart defects-limb shortening syndromeView → Heart position anomalyGroupView → Heart-hand syndromeGroupView → Heart-hand syndrome type 2View → Heart-hand syndrome type 3View → Heart-hand syndrome, Slovenian typeView → Heavy chain deposition disease3 recruitingView → Heavy chain disease4 recruitingView → HEC syndromeView → Heiner syndromeView → Helicoid peripapillary chorioretinal degenerationOphthalmologicalView → HELLP syndrome3 recruitingView → Helsmoortel-Van der Aa syndrome1 recruitingView → Hemangioblastoma6 recruitingOncologyView → Hematological disease associated with an acquired peripheral neuropathyGroupView → Hematological disorder with renal involvementRenalGroupView → Heme oxygenase-1 deficiencyView → Hemi-myelomeningoceleView → Hemi-myeloschisisView → Hemiconvulsion-hemiplegia-epilepsy syndromeNeurologicalView → Hemicrania continua1 recruitingView → Hemidystonia-hemiatrophy syndromeView → Hemifacial hyperplasiaView → Hemifacial myohyperplasiaView → Hemifacial spasm1 recruitingView → Hemihyperplasia-multiple lipomatosis syndromeView → Hemimegalencephaly2 recruitingView → Hemiparkinsonism-hemiatrophy syndromeNeurologicalView → Hemoglobin Bart's fetalis syndrome1 recruitingView → Hemoglobin C diseaseView → Hemoglobin C-beta-thalassemia syndromeBloodView → Hemoglobin D diseaseView → Hemoglobin E diseaseView → Hemoglobin E-beta-thalassemia intermediaBloodView → Hemoglobin E-beta-thalassemia majorBloodView → Hemoglobin E-beta-thalassemia syndromeBloodView → Hemoglobin Lepore-beta-thalassemia intermediaBloodView → Hemoglobin Lepore-beta-thalassemia majorBloodView → Hemoglobin Lepore-beta-thalassemia syndromeBloodView → Hemoglobin M diseaseView → HemoglobinopathyGroupView → Hemolytic anemia due to a disorder of glycolytic enzymesBloodGroupView → Hemolytic anemia due to adenylate kinase deficiency1 recruitingBloodView → Hemolytic anemia due to an erythrocyte nucleotide metabolism disorderBloodGroupView → Hemolytic anemia due to diphosphoglycerate mutase deficiencyBloodView → Hemolytic anemia due to erythrocyte adenosine deaminase overproductionBloodView → Hemolytic anemia due to glucophosphate isomerase deficiencyBloodView → Hemolytic anemia due to glutathione reductase deficiencyBloodView → Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomaliesBloodGroupView → Hemolytic anemia due to pyrimidine 5' nucleotidase deficiencyBloodView → Hemolytic disease due to fetomaternal alloimmunizationGroupView → Hemolytic disease of the newborn with Kell alloimmunizationView → Hemolytic uremic syndrome with DGKE deficiencyView → Hemophagocytic syndromeGroupView → Hemophilia A82 recruitingBloodView → Hemophilia B29 recruitingBloodView → Hemophilia B Leyden28 recruitingBloodView → Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutationView → Hemorrhagic fever-renal syndrome3 recruitingRenalView → Hendra virus infectionView → Hennekam syndromeView → Hepatic arteriovenous malformation1 recruitingView → Hepatic cystic hamartomaView → Hepatic fibrosis-renal cysts-intellectual disability syndromeRenalView → Hepatic veno-occlusive disease3 recruitingView → Hepatic veno-occlusive disease-immunodeficiency syndromeImmuneView → Hepatitis delta20 recruitingView → Hepatoblastoma16 recruitingOncologyView → Hepatocellular adenoma8 recruitingView → Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1NeurologicalView → Hepatoerythropoietic porphyria1 recruitingBloodView → Hepatoportal sclerosisView → Hepatosplenic T-cell lymphoma3 recruitingBloodView → Hereditary acrokeratotic poikilodermaView → Hereditary amyloidosisGroupView → Hereditary amyloidosis with primary renal involvementRenalView → Hereditary Angioedema4 recruitingImmuneView → Hereditary angioedema type 112 recruitingView → Hereditary angioedema type 23 recruitingView → Hereditary angioedema with normal C1Inh4 recruitingView → Hereditary angioedema with normal C1Inh not related to F12 or PLG variantView → Hereditary arginine vasopressin deficiency1 recruitingView → Hereditary arterial and articular multiple calcification syndrome2 recruitingView → Hereditary ataxiaNeurologicalGroupView → Hereditary atrial fibrillation8 recruitingView → Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction diseaseCardiovascularView → Hereditary ATTR amyloidosis46 recruitingView → Hereditary benign intraepithelial dyskeratosisView → Hereditary breast and/or ovarian cancer syndrome1 recruitingView → Hereditary breast cancer42 recruitingView → Hereditary bullous dystrophy, macular typeOphthalmologicalView → Hereditary butyrylcholinesterase deficiencyView → Hereditary cerebral amyloid angiopathy2 recruitingView → Hereditary clear cell renal cell carcinoma12 recruitingRenalView → Hereditary combined deficiency of vitamin K-dependent clotting factorsView → Hereditary continuous muscle fiber activityView → Hereditary coproporphyria2 recruitingBloodView → Hereditary cryohydrocytosis with normal stomatinView → Hereditary cryohydrocytosis with reduced stomatinView → Hereditary dentin defectGroupView → Hereditary diffuse gastric cancer2 recruitingView → Hereditary elliptocytosisView → Hereditary episodic ataxiaNeurologicalGroupView → Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndromeNeuromuscularView → Hereditary folate malabsorptionView → Hereditary Fructose IntoleranceMetabolicView → Hereditary gastric cancerGroupView → Hereditary geniospasmView → Hereditary gingival fibromatosisView → Hereditary Hemochromatosis4 recruitingMetabolicView → Hereditary Hemorrhagic Telangiectasia13 recruitingBloodView → Hereditary hypercarotenemia and vitamin A deficiencyView → Hereditary hyperekplexiaView → Hereditary hyperferritinemia-cataract syndromeView → Hereditary hypophosphatemic rickets with hypercalciuria1 recruitingView → Hereditary hypotrichosis with recurrent skin vesiclesView → Hereditary inclusion body myopathy type 41 recruitingNeuromuscularView → Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeNeuromuscularView → Hereditary isolated aplastic anemia2 recruitingBloodView → Hereditary late-onset Parkinson disease1 recruitingNeurologicalView → Hereditary leiomyomatosis and renal cell cancer5 recruitingRenalView → Hereditary mixed polyposis syndrome1 recruitingView → Hereditary motor and sensory neuropathy type 53 recruitingView → Hereditary motor and sensory neuropathy type 61 recruitingView → Hereditary motor and sensory neuropathy with acrodystrophyView → Hereditary motor and sensory neuropathy, Okinawa typeView → Hereditary mucoepithelial dysplasiaView → Hereditary myopathy with early respiratory failure1 recruitingNeuromuscularView → Hereditary myopathy with lactic acidosis due to ISCU deficiencyNeuromuscularView → Hereditary neurocutaneous malformation70 recruitingView → Hereditary neuroendocrine tumor of small intestine1 recruitingEndocrineView → Hereditary neuropathy with liability to pressure palsies130 recruitingView → Hereditary neutrophiliaView → Hereditary North American Indian childhood cirrhosisView → Hereditary optic neuropathyGroupView → Hereditary orotic aciduria1 recruitingMetabolicView → Hereditary painful callositiesView → Hereditary palmoplantar keratodermaDermatologicalGroupView → Hereditary palmoplantar keratoderma, Gamborg-Nielsen typeDermatologicalView → Hereditary papillary renal cell carcinoma4 recruitingRenalView → Hereditary periodic fever syndromeGroupView → Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeBloodView → Hereditary persistence of fetal hemoglobin-intellectual disability syndromeView → Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeBloodView → Hereditary poikilodermaGroupView → Hereditary progressive cardiac conduction defect1 recruitingView → Hereditary progressive mucinous histiocytosisImmuneView → Hereditary pulmonary alveolar proteinosis2 recruitingRespiratoryView → Hereditary Pulmonary Arterial Hypertension113 recruitingRespiratoryView → Hereditary pyropoikilocytosisView → Hereditary renal hypouricemia1 recruitingRenalView → Hereditary retinoblastoma19 recruitingOncologyView → Hereditary sclerosing poikiloderma, Weary typeView → Hereditary sensorimotor neuropathy with hyperelastic skinView → Hereditary sensory and autonomic neuropathy due to TECPR2 mutationView → Hereditary sensory and autonomic neuropathy type 15 recruitingView → Hereditary sensory and autonomic neuropathy type 1BView → Hereditary sensory and autonomic neuropathy type 26 recruitingView → Hereditary sensory and autonomic neuropathy type 42 recruitingView → Hereditary sensory and autonomic neuropathy type 51 recruitingView → Hereditary sensory and autonomic neuropathy type 61 recruitingView → Hereditary sensory and autonomic neuropathy type 71 recruitingView → Hereditary sensory and autonomic neuropathy type 81 recruitingView → Hereditary sensory and autonomic neuropathy with deafness and global delayView → Hereditary sensory neuropathy-deafness-dementia syndrome1 recruitingView → Hereditary sick sinus syndromeView → Hereditary site-specific ovarian cancer syndromeView → Hereditary sodium channelopathy-related small fibers neuropathyView → Hereditary Spastic Paraplegia21 recruitingNeurologicalView → Hereditary Spherocytosis2 recruitingBloodView → Hereditary steroid-resistant nephrotic syndrome3 recruitingRenalView → Hereditary thermosensitive neuropathyView → Hereditary thrombocytopenia with early-onset myelofibrosisBloodView → Hereditary thrombocytopenia with normal platelets4 recruitingBloodView → Hereditary thrombophilia due to congenital antithrombin deficiencyView → Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiencyView → Hereditary vascular retinopathy18 recruitingView → Hereditary xanthinuria1 recruitingView → Heritable pulmonary arterial hypertension117 recruitingRespiratoryView → Hermansky-Pudlak Syndrome1 recruitingRespiratoryView → Hermansky-Pudlak syndrome due to AP-3 deficiencyView → Hermansky-Pudlak syndrome due to AP3B1 deficiencyView → Hermansky-Pudlak syndrome due to BLOC-1 deficiencyView → Hermansky-Pudlak syndrome due to BLOC-2 deficiencyView → Hermansky-Pudlak syndrome due to BLOC-3 deficiencyView → Hermansky-Pudlak syndrome type 8View → Hermansky-Pudlak syndrome type 9View → Hernández-Aguirre Negrete syndromeView → HERNS syndromeView → Herpes simplex virus encephalitisView → Herpes simplex virus stromal keratitis1 recruitingView → Herpetiform pemphigusDermatologicalView → Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin geneBloodView → HHV-8-associated multicentric Castleman disease2 recruitingView → HIDEA syndromeView → Hidrotic ectodermal dysplasiaDermatologicalView → Hidrotic ectodermal dysplasia, Christianson-Fourie typeDermatologicalView → Hidrotic ectodermal dysplasia, Halal typeDermatologicalView → High bone mass osteogenesis imperfectaConnective TissueView → High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangementBloodView → High myopia-sensorineural deafness syndromeView → High-grade astrocytoma with piloid featuresView → High-grade neuroendocrine carcinoma of the cervix uteri1 recruitingEndocrineView → High-grade neuroendocrine carcinoma of the corpus uteri1 recruitingEndocrineView → Hinman syndromeView → Hip dysplasia, Beukes typeView → Hirschsprung disease12 recruitingView → Hirschsprung disease-deafness-polydactyly syndromeView → Hirschsprung disease-ganglioneuroblastoma syndrome1 recruitingOncologyView → Hirschsprung disease-nail hypoplasia-dysmorphism syndromeView → Hirschsprung disease-type D brachydactyly syndromeView → His bundle tachycardia1 recruitingView → HistidinemiaView → Histidinuria-renal tubular defect syndromeRenalView → Histiocytic and dendritic cell tumorGroupView → Histiocytic sarcoma35 recruitingOncologyView → Histiocytoid cardiomyopathy2 recruitingNeuromuscularView → Histoplasmosis2 recruitingView → HJV or HAMP-related hemochromatosisView → HNF1B-related autosomal dominant tubulointerstitial kidney disease1 recruitingRenalView → HNRNPA1-related adult-onset distal myopathyNeuromuscularView → HNRNPDL-related limb-girdle muscular dystrophy D31 recruitingNeuromuscularView → Hobnail hemangiomaView → Holmes-Adie syndromeView → Holmes-Gang syndromeView → Holocarboxylase synthetase deficiency1 recruitingView → HoloprosencephalyView → Holoprosencephaly-caudal dysgenesis syndromeView → Holoprosencephaly-craniosynostosis syndromeView → Holoprosencephaly-postaxial polydactyly syndromeView → Holoprosencephaly-radial heart renal anomalies syndromeRenalView → Holt-Oram SyndromeConnective TissueView → Holzgreve syndromeView → HomocarnosinosisView → Homocystinuria5 recruitingMetabolicView → Homocystinuria due to methylene tetrahydrofolate reductase deficiencyRenalView → Homocystinuria without methylmalonic aciduriaRenalView → Homozygous familial hypercholesterolemia11 recruitingView → Homozygous hemoglobin O Arab diseaseView → Homozygous hereditary elliptocytosisView → Horizontal gaze palsy with progressive scoliosis1 recruitingView → Hot water reflex epilepsyNeurologicalView → Hoyeraal-Hreidarsson syndrome2 recruitingView → HSD10 diseaseView → HSD10 disease, atypical typeView → HSD10 disease, infantile typeView → HSD10 disease, neonatal typeView → HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndromeNeuromuscularView → HTRA1-related autosomal dominant cerebral small vessel disease1 recruitingView → Hughes-Stovin syndromeView → Human herpesvirus 8-related disorderGroupView → Human infection by orthopoxvirusView → Human prion diseaseNeurologicalGroupView → Humerospinal dysostosisConnective TissueView → Humerus trochlea aplasiaView → Hunter Syndrome9 recruitingMetabolicView → Hunter-Carpenter-McDonald syndromeView → Hunter-McAlpine syndromeView → Huntington Disease40 recruitingNeurologicalView → Huntington disease-like 1NeurologicalView → Huntington disease-like 2NeurologicalView → Huntington disease-like 3NeurologicalView → Huntington disease-like syndrome due to C9ORF72 expansionsNeurologicalView → Huriez syndromeView → Hurler syndrome8 recruitingView → Hutchinson-Gilford progeria syndromeView → Hyaline fibromatosis syndromeView → Hyaluronidase deficiency1 recruitingView → Hydatidiform mole3 recruitingView → HydranencephalyView → Hydroa vacciniforme2 recruitingView → Hydroa vacciniforme-like lymphoma2 recruitingBloodView → Hydrocephalus with stenosis of the aqueduct of SylviusView → Hydrocephalus-blue sclerae-nephropathy syndromeRenalView → Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndromeView → Hydrocephalus-obesity-hypogonadism syndromeView → Hydrocephaly-cerebellar agenesis syndromeNeurologicalView → Hydrocephaly-low insertion umbilicus syndromeView → Hydrocephaly-tall stature-joint laxity syndromeView → Hydrolethalus1 recruitingView → Hydrops fetalis2 recruitingView → Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndromeBloodView → HydroxykynureninuriaView → HymenolepiasisView → Hyper IgM Syndrome4 recruitingImmuneView → Hyper-beta-alaninemiaView → Hyper-IgM syndrome type 21 recruitingImmuneView → Hyper-IgM syndrome type 3ImmuneView → Hyper-IgM syndrome type 4ImmuneView → Hyper-IgM syndrome type 51 recruitingImmuneView → Hyper-IgM syndrome with susceptibility to opportunistic infectionsImmuneView → Hyper-IgM syndrome without susceptibility to opportunistic infectionsImmuneView → Hyperammonemia due to N-acetylglutamate synthase deficiencyView → Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiencyNeurologicalView → Hyperandrogenism due to cortisone reductase deficiencyView → HyperbiliverdinemiaView → Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyView → Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiencyView → Hyperekplexia-epilepsy syndromeNeurologicalView → Hypereosinophilic Syndrome16 recruitingImmuneView → Hypergonadotropic hypogonadism-cataract syndromeView → Hyperimmunoglobulinemia D with periodic feverView → Hyperinsulinemic hypoglycaemiaGroupView → Hyperinsulinism due to HNF1A deficiencyView → Hyperinsulinism due to INSR deficiencyView → Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyView → Hyperinsulinism due to UCP2 deficiencyView → Hyperinsulinism-hyperammonemia syndromeView → Hyperkalemic periodic paralysis1 recruitingView → Hyperkeratosis lenticularis perstansView → Hyperkeratosis-hyperpigmentation syndromeView → Hyperlipidemia due to hepatic triacylglycerol lipase deficiencyView → Hyperlipoproteinemia type 110 recruitingView → HyperlysinemiaView → Hypermethioninemia due to glycine N-methyltransferase deficiencyView → Hypermethioninemia encephalopathy due to adenosine kinase deficiencyNeurologicalView → Hypermobile Ehlers-Danlos syndrome6 recruitingConnective TissueView → Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 recruitingView → Hyperostosis corticalis generalisataView → Hyperostosis cranialis internaView → Hyperparathyroidism-jaw tumor syndrome1 recruitingEndocrineView → Hyperphenylalaninemia due to DNAJC12 deficiencyView → Hyperphenylalaninemia due to tetrahydrobiopterin deficiencyView → Hyperphosphatasia-intellectual disability syndromeView → Hyperpigmentation of the skinGroupView → HyperpituitarismGroupView → Hyperprolinemia type 1View → Hyperprolinemia type 2View → Hypersensitivity pneumonitis5 recruitingView → Hypertelorism-hypospadias-polysyndactyly syndromeView → Hypertelorism-microtia-facial clefting syndromeView → Hypertelorism-preauricular sinus-punctual pits-deafness syndromeView → Hypertension due to gain-of-function mutations in the mineralocorticoid receptorView → Hypertrichosis cubitiView → Hypertrichosis lanuginosa congenitaView → Hypertrichosis-acromegaloid facial appearance syndromeView → Hypertrophic Cardiomyopathy74 recruitingCardiovascularView → Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation1 recruitingNeuromuscularView → Hypertrophic olivary degeneration1 recruitingView → Hypertrophic or verrucous lupus erythematosusView → HypertryptophanemiaBloodView → Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndromeRespiratoryView → Hyperzincemia and hypercalprotectinemiaView → Hypnic headacheView → Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndromeView → Hypocalcemic vitamin D-dependent ricketsView → Hypocalcemic vitamin D-resistant ricketsView → Hypocalcified amelogenesis imperfectaView → Hypochondrogenesis1 recruitingView → Hypochondroplasia5 recruitingView → Hypocomplementemic urticarial vasculitis2 recruitingImmuneView → Hypodontia-dysplasia of nails syndromeView → Hypodontia-scalp hypotrichosis-facial dysmorphism syndromeView → Hypoglossia-hypodactyly syndromeView → Hypoglossia/aglossiaGroupView → Hypogonadism-mitral valve prolapse-intellectual disability syndromeView → Hypogonadotropic hypogonadism-frontoparietal alopecia syndromeView → Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome1 recruitingOphthalmologicalView → Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndromeView → Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndromeDermatologicalView → Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeDermatologicalView → Hypohidrotic ectodermal dysplasia1 recruitingDermatologicalView → Hypohidrotic ectodermal dysplasia with immunodeficiencyImmuneView → Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndromeRespiratoryView → Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndromeImmuneView → Hypoinsulinemic hypoglycemia and body hemihypertrophyView → Hypomandibular faciocranial dysostosisConnective TissueView → Hypomaturation amelogenesis imperfectaView → Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontismView → Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndromeNeurologicalView → Hypomyelination neuropathy-arthrogryposis syndromeView → Hypomyelination of early myelinating structuresView → Hypomyelination with atrophy of basal ganglia and cerebellum1 recruitingView → Hypomyelination with brain stem and spinal cord involvement and leg spasticity1 recruitingView → Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndromeNeurologicalView → Hypomyelination-congenital cataract syndrome1 recruitingView → Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome1 recruitingView → Hypoparathyroidism-sensorineural deafness-renal disease syndromeRenalView → Hypophosphatasia7 recruitingConnective TissueView → Hypopigmentation of the skinGroupView → Hypopigmentation-punctate palmoplantar keratoderma syndromeDermatologicalView → Hypopituitarism-micropenis-cleft lip/palate syndromeView → Hypopituitarism-microphthalmia syndromeOphthalmologicalView → Hypoplasia of the mitral valve annulusView → Hypoplasminogenemia1 recruitingView → Hypoplastic amelogenesis imperfectaView → Hypoplastic left heart syndrome8 recruitingView → Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndromeView → Hypoplastic tibiae-postaxial polydactyly syndromeView → Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeView → Hypospadias-hypertelorism-coloboma and deafness syndromeView → Hypospadias-intellectual disability, Goldblatt type syndromeView → Hypothalamic adipsic hypernatraemia syndromeView → Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndromeView → Hypothyroidism due to deficient transcription factors involved in pituitary development or functionEndocrineView → Hypothyroidism due to TSH receptor mutationsEndocrineView → Hypotonia with lactic acidemia and hyperammonemiaMetabolicView → Hypotonia-cystinuria syndromeRenalView → Hypotonia-failure to thrive-microcephaly syndromeView → Hypotonia-speech impairment-severe cognitive delay syndromeView → Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiencyView → Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiencyView → Hypotrichosis simplexView → Hypotrichosis simplex of the scalpView → Hypotrichosis with juvenile macular degenerationOphthalmologicalView → Hypotrichosis-deafness syndromeView → Hypotrichosis-intellectual disability, Lopes typeView → Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeRenalView → Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndromeDermatologicalView → Hypoxanthine guanine phosphoribosyltransferase partial deficiencyView → OBSOLETE: Hand-Schüller-Christian diseaseRetired termView → OBSOLETE: Harmonic micromeliaRetired termView → OBSOLETE: Hashimoto-Pritzker syndromeRetired termView → OBSOLETE: Heckenlively syndromeRetired termView → OBSOLETE: Heinz body anemiaBloodRetired termView → OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndromeOphthalmologicalRetired termView → OBSOLETE: Hemochromatosis type 4Retired termView → OBSOLETE: Hemochromatosis type 5Retired termView → OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiencyBloodRetired termView → OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasisRetired termView → OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-WearyRetired termView → OBSOLETE: Hereditary epidermolysis bullosa associated with ocular featuresDermatologicalRetired termView → OBSOLETE: Hereditary iron overload with anemiaBloodRetired termView → OBSOLETE: Hereditary iron overload with neurologic manifestationRetired termView → OBSOLETE: Hereditary motor and sensory neuropathyRetired termView → OBSOLETE: Hereditary pediatric Behçet-like diseaseRetired termView → OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndromeBloodRetired termView → OBSOLETE: Heredodegenerative disease with dystonia as a major featureRetired termView → OBSOLETE: Herpes simplex virus keratitisRetired termView → OBSOLETE: High isolated anorectal malformationRetired termView → OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndromeConnective TissueRetired termView → OBSOLETE: HIV-related anal cancerRetired termView → OBSOLETE: HIV-related cervical cancerRetired termView → OBSOLETE: HIV-related hepatocellular carcinomaOncologyRetired termView → OBSOLETE: HIV-related Hodgkin lymphomaBloodRetired termView → OBSOLETE: HIV-related Kaposi sarcomaOncologyRetired termView → OBSOLETE: HIV-related lung cancerRetired termView → OBSOLETE: HIV-related Non-Hodgkin lymphomaBloodRetired termView → OBSOLETE: HIV-related oropharyngeal cancerRetired termView → OBSOLETE: HIV-related penile cancerRetired termView → OBSOLETE: HIV-related vulvovaginal cancerRetired termView → OBSOLETE: Holoacardius amorphusRetired termView → OBSOLETE: House allergic alveolitisRespiratoryRetired termView → OBSOLETE: Humeral agenesis/hypoplasia, bilateralRetired termView → OBSOLETE: Humeral agenesis/hypoplasia, unilateralRetired termView → OBSOLETE: Humero-radial synostosis, bilateralRetired termView → OBSOLETE: Humero-radial synostosis, unilateralRetired termView → OBSOLETE: Humero-radio-ulnar synostosis, bilateralRetired termView → OBSOLETE: Humero-radio-ulnar synostosis, unilateralRetired termView → OBSOLETE: Humero-ulnar synostosis, bilateralRetired termView → OBSOLETE: Humero-ulnar synostosis, unilateralRetired termView → OBSOLETE: Hyperdibasic aminoaciduria type 1MetabolicRetired termView → OBSOLETE: Hyperlipoproteinemia type 5Retired termView → OBSOLETE: Hyperphalangy, bilateralRetired termView → OBSOLETE: Hyperphalangy, unilateralRetired termView → OBSOLETE: Hypertrichotic osteochondrodysplasiaRetired termView → OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic trainingNeuromuscularRetired termView → OBSOLETE: HypodermyiasisRetired termView → OBSOLETE: Hypopituitarism-postaxial polydactyly syndromeRetired termView → OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndromeRetired termView → OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndromeNeurologicalRetired termView →