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 →