H

H-ABC
Haberland syndrome
Haddad syndrome
Hadziselimovic syndrome
HAE
HAE 1
HAE 2
HAE 3
HAE-I
HAE-II
HAE-III
HAE with C1Inh deficiency
HAE with C1 inhibitor deficiency
HAE with normal C1Inh
HAE with normal C1 inhibitor
HAFF
Hagberg-Santavuori disease
Hailey-Hailey disease
Haim-Munk syndrome
Hair anomaly
Hair defect-photosensitivity-intellectual disability syndrome
Hair-nail ectodermal dysplasia
Hairy cell leukemia variant
Hairy elbows syndrome
Hairy throat syndrome
Hajdu-Cheney syndrome
Halal-Setton-Wang syndrome
Halasz syndrome
Hal-Berg-Rudolph syndrome
HAL deficiency
Hallermann-Streiff-François syndrome, severe form
Hallermann-Streiff-like syndrome
Hallermann-Streiff syndrome
Hallervorden-Spatz syndrome
Hall-Hittner syndrome
Hall-Riggs syndrome
Hallux varus-preaxial polysyndactyly syndrome
Hamamy syndrome
Hamanishi-Ueba-Tsuji syndrome
Hamano-Tsukamoto syndrome
Hamartomatous intestinal polyposis
Hamel cerebro-palato-cardiac syndrome
Hamman-Rich syndrome
HAM syndrome
HAM/TSP
HANAC syndrome
Hand and foot deformity-flat facies syndrome
Hand-foot-genital syndrome
Hand-foot-uterus syndrome
Hanhart syndrome
Hanot syndrome
Hantavirosis
Hantavirus fever
Hantavirus pulmonary syndrome
Hapnes-Boman-Skeie syndrome
Haptocorrin deficiency
Harboyan syndrome
Hardcastle syndrome
Hardikar syndrome
Harding ataxia
Hard skin syndrome, Parana type
HARD syndrome
Harel-Yoon syndrome
Harlequin ichthyosis
Harlequin syndrome
Harrod syndrome
Hartnup disease
Hartnup disorder
Hartsfield syndrome
HAS
Hashimoto encephalitis
Haspeslagh-Fryns-Muelenaere syndrome
HAT
Hawkinsinuria
Hay-Wells syndrome
Hb Bart’s hydrops fetalis
HbC-beta-thalassemia syndrome
HbE-beta-thalassemia syndrome
HbH disease
HBID
HbLepore-beta-thalassemia syndrome
HbS-beta-thalassemia syndrome
HbSC disease
HbSD disease
HbSE disease
HBSL
HCC
HCD
HCDD
HCHWA
HCHWA, Arctic type
HCHWA-D
HCHWA, Dutch type
HCHWA, Flemish type
HCHWA, Icelandic type
HCHWA, Iowa type
HCHWA, Italian type
HCHWA, Piedmont type
HCL-C
HCL-v
HCS
HDFN
HDGC
HD-HA syndrome
HDL1
HDL2
HDL3
HDL4
HDLS
HDR syndrome
HDV
HE
Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Heart defects-limb shortening syndrome
Heart defect-tongue hamartoma-polysyndactyly syndrome
Heart-hand syndrome
Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Spanish type
Heart-hand syndrome type 1
Heart-hand syndrome type 2
Heart-hand syndrome type 3
Heart-limb syndrome type 3
Heart position anomaly
Heart tumor of child
Heavy chain amyloidosis
Heavy chain deposition disease
Heavy chain disease
Hecht-Beals syndrome
Hecht-Scott syndrome
Hecht syndrome
HEC syndrome
HED
HEDH syndrome
HED-ID
hEDS
Heide syndrome
Heimler syndrome
Heiner syndrome
Helicoid peripapillary chorioretinal degeneration
HELIX syndrome
Heller syndrome
HELLP syndrome
Helsmoortel-Van Der Aa Syndrome
Hemangioblastoma
Hemangiolymphangioma
Hemangiolymphangioma
Hemangioma-thrombocytopenia syndrome
Hematological disease associated with an acquired peripheral neuropathy
Hematological disorder with renal involvement
HEM dysplasia
Heme oxygenase-1 deficiency
Hemi 3 syndrome
Hemiconvulsion-hemiplegia-epilepsy syndrome
Hemicorporal hypertrophy
Hemicrania continua
Hemidystonia-hemiatrophy syndrome
Hemifacial atrophy
Hemifacial hyperplasia
Hemifacial hyperplasia-strabismus syndrome
Hemifacial hypertrophy
Hemifacial microsomia
Hemifacial microsomia-radial defects syndrome
Hemifacial myohyperplasia
Hemifacial spasm
Hemihyperplasia-multiple lipomatosis syndrome
Hemimegalencephaly
Hemimelia
Hemiparkinsonism-hemiatrophy syndrome
Hemitruncus arteriosus
Hemochromatosis due to defect in ferroportin
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hemochromatosis type 5
Hemoglobin Bart’s hydrops fetalis
Hemoglobin C-beta-thalassemia syndrome
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E-beta-thalassemia syndrome
Hemoglobin E disease
Hemoglobin H disease
Hemoglobin Lepore-beta-thalassemia syndrome
Hemoglobin M disease
Hemoglobinopathy
Hemoglobinopathy Toms River
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
Hemolytic anemia due to adenylate kinase deficiency
Hemolytic anemia due to a disorder of glycolytic enzymes
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Hemolytic anemia due to an erythroenzymopathy
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to glutathione reductase deficiency
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Hemolytic anemia due to pyrimidine 5′ nucleotidase deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hemolytic disease due to fetomaternal alloimmunization
Hemolytic disease of the fetus and newborn
Hemolytic disease of the newborn with Kell alloimmunization
Hemolytic uremic syndrome
Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli
Hemolytic uremic syndrome with DGKE deficiency
Hemolytic uremic syndrome with diarrhea
Hemophagocytic lymphohistiocytosis
Hemophagocytic syndrome
Hemophagocytic syndrome associated with an infection
Hemophilia
Hemophilia A
Hemophilia B
Hemophilia C
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hemorrhagic fever-renal syndrome
Hemorrhagiparous thrombocytic dystrophy
Hemosiderosis of the central nervous system
Hendra virus infection
Hennekam-Beemer syndrome
Hennekam syndrome
Henoch-Schönlein purpura
HEP
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
Heparan sulfamidase deficiency
Heparin-associated thrombocytopenia
Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia type 2
Hepatic carnitine palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency
Hepatic cystic hamartoma
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Hepatic glycogen phosphorylase deficiency
Hepatic phosphorylase deficiency
Hepatic solitary necrotic nodule
Hepatic veno-occlusive disease
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hepatitis B reinfection following liver transplantation
Hepatitis delta
Hepatitis D virus
Hepatoblastoma
Hepatocellular adenoma
Hepatocellular carcinoma
Hepatocholangiocarcinoma
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hepatoencephalopathy due to COXPD1
Hepatoerythropoietic porphyria
Hepatolenticular degeneration
Hepatoportal sclerosis
Hepatorenal glycogenosis
Hepatorenal tyrosinemia
Hepatosplenic T-cell lymphoma
Hereditary acrokeratotic poikiloderma
Hereditary adult-onset painful axonal polyneuropathy
Hereditary amyloid nephropathy
Hereditary amyloid nephropathy due to apolipoprotein A-II variant
Hereditary amyloid nephropathy due to apolipoprotein A-I variant
Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant
Hereditary amyloid nephropathy due to lysozyme variant
Hereditary amyloidosis
Hereditary amyloidosis, Finnish type
Hereditary amyloidosis with primary renal involvement
Hereditary anetoderma
Hereditary angioedema
Hereditary angioedema type 1
Hereditary angioedema type 2
Hereditary angioedema type 3
Hereditary angioedema with C1Inh deficiency
Hereditary angioedema with normal C1Inh
Hereditary angioedema with normal C1 inhibitor
Hereditary angioneurotic edema
Hereditary angioneurotic edema type 1
Hereditary angioneurotic edema type 2
Hereditary angioneurotic edema type 3
Hereditary angioneurotic edema with C1Inh deficiency
Hereditary angioneurotic edema with C1 inhibitor deficiency
Hereditary angioneurotic edema with normal C1Inh
Hereditary angioneurotic edema with normal C1 inhibitor
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
Hereditary arterial and articular multiple calcification syndrome
Hereditary articular chondrocalcinosis
Hereditary ATTR amyloidosis
Hereditary benign corneal intraepithelial dyskeratosis
Hereditary benign intraepithelial dyskeratosis
Hereditary bradykinine-induced angioedema
Hereditary brain cavernous angioma
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary breast carcinoma
Hereditary bullous dystrophy, macular type
Hereditary bundle branch defect
Hereditary CAD
Hereditary calcium pyrophosphate deposition
Hereditary cancer of stomach
Hereditary CC
Hereditary CDI
Hereditary central diabetes insipidus
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
Hereditary cerebral hemorrhage with amyloidosis
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hereditary ceruloplasmin deficiency
Hereditary cervical artery dissection
Hereditary chin myoclonus
Hereditary chin-trembling
Hereditary chronic pancreatitis
Hereditary clear cell renal cell adenocarcinoma
Hereditary clear cell renal cell carcinoma
Hereditary clubfoot due to 17q23.1-q23.2 microduplication
Hereditary clubfoot due to 5q31 microdeletion
Hereditary clubfoot due to PITX1 point mutation
Hereditary combined deficiency of factors II, VII, IX and X
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary congenital controlateral synkinesia
Hereditary congenital mirror movements
Hereditary continuous muscle fiber activity
Hereditary coproporphyria
Hereditary cranium bifidum
Hereditary cryohydrocytosis type 2
Hereditary cryohydrocytosis with normal stomatin
Hereditary cryohydrocytosis with reduced stomatin
Hereditary crystalline stromal dystrophy of Schnyder
Hereditary cystatin C amyloid angiopathy
Hereditary dentin defect
Hereditary diffuse cancer of stomach
Hereditary diffuse gastric adenocarcinoma
Hereditary diffuse gastric cancer
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary elliptocytosis
Hereditary epidermolysis bullosa
Hereditary episodic ataxia
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
Hereditary essential myoclonus
Hereditary expansile polyostotic osteolytic dysplasia
Hereditary ferritinopathy
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Hereditary folate malabsorption
Hereditary fructose-1-phosphate aldolase deficiency
Hereditary fructose intolerance
Hereditary fructosemia
Hereditary gastric cancer
Hereditary geniospasm
Hereditary gingival fibromatosis
Hereditary gingival hyperplasia
Hereditary glaucoma
Hereditary hemorrhagic telangiectasia
Hereditary hollow visceral myopathy
Hereditary hypercarotenemia and vitamin A deficiency
Hereditary hypercholanemia
Hereditary hyperekplexia
Hereditary hyperexplexia
Hereditary hyperferritinemia-cataract syndrome
Hereditary hyperferritinemia with congenital cataracts
Hereditary hyperphosphatasia
Hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypotrichosis simplex
Hereditary hypotrichosis simplex of the scalp
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary inclusion body myopathy type 2
Hereditary inclusion body myopathy type 3
Hereditary inclusion body myopathy type 4
Hereditary inclusion body myopathy with early respiratory failure
Hereditary infantile gigantism
Hereditary isolated aplastic anemia
Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
Hereditary keratitis
Hereditary keratoacanthoma
Hereditary keratosis palmoplantaris
Hereditary late-onset Parkinson disease
Hereditary leiomyomatosis
Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis with renal carcinoma
Hereditary lymphedema type I
Hereditary lymphedema type II
Hereditary macular atrophy
Hereditary methemoglobinemia
Hereditary mixed polyposis syndrome
Hereditary motor and sensory neuropathy, Lom type
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor and sensory neuropathy, proximal type
Hereditary motor and sensory neuropathy, Russe Type
Hereditary motor and sensory neuropathy type 1
Hereditary motor and sensory neuropathy type 2
Hereditary motor and sensory neuropathy type 3
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 6
Hereditary motor and sensory neuropathy type III
Hereditary motor and sensory neuropathy type IV
Hereditary motor and sensory neuropathy type V
Hereditary motor and sensory neuropathy type VI
Hereditary motor and sensory neuropathy with acrodystrophy
Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
Hereditary mucoepithelial dysplasia
Hereditary mucosal leukokeratosis
Hereditary multi-infarct dementia
Hereditary multiple cutaneous leiomyomas
Hereditary multiple glomangiomas
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Hereditary myopathy with early respiratory failure
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary neurocutaneous malformation
Hereditary neuroendocrine tumor of small bowel
Hereditary neuroendocrine tumor of small intestine
Hereditary neurogenic diabetes insipidus
Hereditary neuropathy with liability to pressure palsies
Hereditary neutrophilia
Hereditary non histamine-induced angioedema
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal cancer
Hereditary North American Indian childhood cirrhosis
Hereditary ochronosis
Hereditary optic neuropathy
Hereditary orotic aciduria
Hereditary ovalocytosis
Hereditary painful callosities
Hereditary palmoplantar hyperkeratosis
Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type
Hereditary palmoplantar keratoderma
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Hereditary papillary renal cell carcinoma
Hereditary parathyroids hyperplasia
Hereditary pediatric Behçet-like disease
Hereditary periodic fever syndrome
Hereditary persistence of alpha-fetoprotein
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Hereditary pheochromocytoma-paraganglioma
Hereditary pituitary hyperplasia
Hereditary poikiloderma
Hereditary polymorphous light eruption of American Indians
Hereditary PPK
Hereditary prepubertal gynecomastia
Hereditary progressive arthroophthalmopathy
Hereditary progressive dystonia with diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
Hereditary progressive mucinous histiocytosis
Hereditary pulmonary alveolar proteinosis
Hereditary pulmonary alveolar proteinosis with hepatic involvement
Hereditary pulmonary arterial hypertension
Hereditary renal amyloidosis
Hereditary renal amyloidosis due to apolipoprotein A-II variant
Hereditary renal amyloidosis due to apolipoprotein A-I variant
Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant
Hereditary renal amyloidosis due to lysozyme variant
Hereditary renal hypouricemia
Hereditary retinoblastoma
Hereditary sclerosing poikiloderma, Weary type
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 1B
Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 3
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hereditary sensory and autonomic neuropathy type 6
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type 8
Hereditary sensory and autonomic neuropathy type I
Hereditary sensory and autonomic neuropathy type IB
Hereditary sensory and autonomic neuropathy type II
Hereditary sensory and autonomic neuropathy type III
Hereditary sensory and autonomic neuropathy type IV
Hereditary sensory and autonomic neuropathy type V
Hereditary sensory and autonomic neuropathy type VI
Hereditary sensory and autonomic neuropathy type VII
Hereditary sensory and autonomic neuropathy type VIII
Hereditary sensory and autonomic neuropathy with deafness and global delay
Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
Hereditary site-specific ovarian cancer syndrome
Hereditary spastic paraparesis
Hereditary spastic paraparesis type 15
Hereditary spastic paraplegia
Hereditary spherocytosis
Hereditary steroid-resistant nephrotic syndrome
Hereditary stomatocytic disease
Hereditary stomatocytosis
Hereditary thermosensitive neuropathy
Hereditary thrombocythemia
Hereditary thrombocytopenia with early-onset myelofibrosis
Hereditary thrombocytopenia with normal platelets
Hereditary thrombocytosis with transverse limb defect
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Hereditary thrombophilia due to congenital HRG deficiency
Hereditary unconjugated hyperbilirubinemia
Hereditary unconjugated hyperbilirubinemia type 1
Hereditary unconjugated hyperbilirubinemia type 2
Hereditary vitamin D-resistant rickets
Hereditary von Willebrand disease
Hereditary whispering dysphonia
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Hereditary xanthinuria
Hereditary xerocytosis
Heredopathia atactica polyneuritiformis
Heritable pulmonary arterial hypertension
Herlyn-Werner syndrome
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome type 2
Hermansky-Pudlak syndrome type 7
Hermansky-Pudlak syndrome type 8
Hermansky-Pudlak syndrome type 9
Hermansky-Pudlak syndrome with neutropenia
Hermansky-Pudlak syndrome without pulmonary fibrosis
Hermansky-Pudlak syndrome with pulmonary fibrosis
Hernández-Aguirre Negrete syndrome
Hernández-Fragoso syndrome
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpes simplex virus encephalitis
Herpes simplex virus keratitis
Herpetic encephalitis
Herpetic keratitis
Herpetiform pemphigus
Hers disease
Herva disease
HES
HES-L
HES-M
HES-N
HES-R
Heterotaxia
Heterotaxy syndrome
Heterozygous microdeletion 17p11.2p12
Heterozygous OSMED
Heterozygous otospondylomegaepiphyseal dysplasia
Hexosaminidase activator deficiency
Hexosaminidase A deficiency
Hexosaminidase A deficiency, adult form
Hexosaminidase A deficiency, B1 variant
Hexosaminidase A deficiency, infantile form
Hexosaminidase A deficiency, juvenile form
Hexosaminidases A and B deficiency
Hexosaminidases A and B deficiency, adult form
Hexosaminidases A and B deficiency, infantile form
Hexosaminidases A and B deficiency, juvenile form
HF
HFGS
HGPPS
HGPS
HGSNAT deficiency
HHCS
HHE syndrome
HHH syndrome
HHML
HHRH
HHT
HHV-8-related disorder
HI
HIBCH deficiency
HIBM2
HIBM3
HIBM4
HIBM-ERF
Hidrotic ectodermal dysplasia
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Hidrotic ectodermal dysplasia, Halal type
HIDS
HIE
High altitude pulmonary edema
High bone mass OI
High bone mass osteogenesis imperfecta
High-grade astrocytoma
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
High-grade dysplasia in patients with Barrett esophagus
High-grade neuroendocrine carcinoma of the cervix uteri
High-grade neuroendocrine carcinoma of the corpus uteri
High-grade neuroendocrine carcinoma of the uterine cervix
High-grade neuroendocrine carcinoma of the uterine corpus
High isolated anorectal malformation
High myopia-sensorineural deafness syndrome
High scapula
HIGM1
HIGM2
HIGM3
HIGM4
HIGM5
HIGM without susceptibility to opportunistic infections
HIGM with susceptibility to opportunistic infections
HI/HA syndrome
Hilar CCA
Hilar cholangiocarcinoma
Hinman-Allen syndrome
Hinman syndrome
Hinson-Pepys disease
Hip dysplasia, Beukes type
Hip dysplasia-enchondromata-ecchondroma syndrome
Hirata disease
Hirayama disease
Hirschsprung disease
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Hirschsprung disease-deafness-polydactyly syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-intellectual disability syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-type D brachydactyly syndrome
Hirsutism-congenital gingival hyperplasia syndrome
His bundle tachycardia
HIS deficiency
Histidase deficiency
Histidine ammonia-lyase deficiency
Histidinemia
Histidinuria
Histidinuria-renal tubular defect syndrome
Histiocytic and dendritic cell tumor
Histiocytic necrotizing lymphadenitis
Histiocytic sarcoma
Histiocytoid cardiomyopathy
Histiocytosis X
Histiocytosis X in childhood and adulthood
Histiocytosis X specific to adulthood
Histiocytosis X specific to childhood
Histoplasmosis
HI syndrome
HIT
HIV-associated cancer
HIV-related cancer
HJMD
HLH
HLHS
HLP type 3
HLRCC
HMC syndrome
HMERF
HMG-CoA lyase deficiency
HMG-CoA synthase deficiency
HMPS
HMSN2 with giant axons
HMSN 3
HMSN 4
HMSN 5
HMSN 6
HMSN III
HMSN IV
HMSN-Lom
HMSN, Lom type
HMSNP
HMSNR
HMSN V
HMSN VI
HMSN with acrodystrophy
HNED
HNF1B-MODY
HNF1B-related autosomal dominant tubulointerstitial kidney disease
HNPCC
HNPP
HO-1 deficiency
Hodgkin lymphoma
Hodgkin’s disease
Hodgkin’s lymphoma
Hoepffner-Dreyer-Reimers syndrome
Hoffman syndrome
HoFH
HOGA
Holmes-Adie syndrome
Holmes-Collins syndrome
Holmes-Gang syndrome
Holmes-Schepens syndrome
Holocarboxylase synthetase deficiency
Holoprosencephaly
Holoprosencephaly-caudal dysgenesis syndrome
Holoprosencephaly-craniosynostosis syndrome
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
Holoprosencephaly-like
Holoprosencephaly, minor form
Holoprosencephaly-postaxial polydactyly syndrome
Holoprosencephaly-radial heart renal anomalies syndrome
Holt-Oram syndrome
Holzgreve syndrome
Holzgreve-Wagner-Rehder syndrome
HOMG1
HOMG2
HOMG3
Homocystinuria due to cystathionine beta-synthase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria without methylmalonic aciduria
Homogentisic acid oxidase deficiency
Homozygous 2p21 microdeletion syndrome
Homozygous alpha0-thalassemia
Homozygous familial hypercholesterolemia
Homozygous familial hypobetalipoproteinemia
Honeycomb corneal dystrophy
Honey-droplet corneal dystrophy
Hookworm infection
HOPP syndrome
Horizontal gaze palsy with progressive scoliosis
Horton disease
HOS
Hot water reflex epilepsy
Houlston-Ironton-Temple syndrome
House allergic alveolitis
Howell-Evans syndrome
Hoyeraal-Hreidarsson syndrome
HP
HPAH
HPD with diurnal fluctuation
HPD with marked diurnal fluctuation
HPE
HPE-L
HPE, minor form
HPFH-beta-thalassemia syndrome
HPFH-sickle cell disease syndrome
HP-HA syndrome
HPP
HPPD
HPRCC
HPRT1 deficiency
HPRT1 partial deficiency
HPRT complete deficiency
HPRT deficiency
HPRT deficiency, grade I
HPRT deficiency grade IV
HPRT partial deficiency
HPRT-related gout
HPRT-related hyperuricemia
HPS
HPS2
HPS7
HPS8
HPS9
HPS without pulmonary fibrosis
HPS with pulmonary fibrosis
HPT-JT
HRD syndrome
HS
HSAN
HSAN1
HSAN1B
HSAN1E
HSAN2
HSAN3
HSAN4
HSAN5
HSAN6
HSAN7
HSAN8
HSAN due to TECPR2 mutation
HSAN with cough and gastroesophageal reflux
HSAN with deafness and global delay
HSAN with hyperhidrosis and gastrointestinal dysfunction
HSAS
HSCR
HSD10 deficiency
HSD10 deficiency, atypical type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 deficiency, neonatal type
HSD10 disease
HSD10 disease, atypical type
HSD10 disease, classic type
HSD10 disease, infantile type
HSD10 disease, neonatal type
HSE
HSH
H-SMD
HSN1E
HSP
HSVE
HSV encephalitis
HSV keratitis
H syndrome
HTLV-1-associated myelopathy/tropical spastic paraparesis
HTRA1-related autosomal dominant cerebral angiopathy
HTRA1-related autosomal dominant cerebral small vessel disease
HTRA1-related cerebral angiopathy
HTRA1-related cerebral small vessel disease
H-type tracheoesophageal fistula
Hughes-Stovin syndrome
Human dermatosparaxis EDS VIIC
Human herpesvirus 8-related disorder
Human infection by orthopoxvirus
Human prion disease
Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis
Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis
Humeral agenesis/hypoplasia
Humeral intercalary meromelia
Humero-radial fusion
Humero-radial synostosis
Humero-radio-ulnar fusion
Humero-radio-ulnar intercalary transverse meromelia
Humero-radio-ulnar synostosis
Humero-ulnar fusion
Humero-ulnar fusion, bilateral
Humero-ulnar fusion, unilateral
Humero-ulnar synostosis
Humero-ulnar synostosis, bilateral
Humero-ulnar synostosis, unilateral
Humerus trochlea aplasia
Hunter-Jurenka-Thompson syndrome
Hunter-McAlpine craniosynostosis
Hunter-Rudd-Hoffmann syndrome
Hunter syndrome
Hunter syndrome type A
Hunter syndrome type B
Hunter-Thompson-Reed syndrome
Huntington chorea
Huntington disease
Huntington disease-like 1
Huntington disease-like 2
Huntington disease-like 3
Huntington disease-like 4
Huntington disease-like syndrome
Huntington disease-like syndrome due to C9ORF72 expansions
Huntington disease phenocopy due to C9ORF72 expansions
Huntington disease phenocopy syndrome
Huppke-Brendel syndrome
HUPRA syndrome
Huriez syndrome
Hurler disease
Hurler-Scheie syndrome
Hurler syndrome
HUS
HUS with DGKE deficiency
Hutchinson-Gilford progeria syndrome
Hutchinson summer prurigo
HVDAS
HVDRR
HVLL
Hyaline body myopathy
Hyaline fibromatosis syndrome
Hyaline membrane disease
Hyalinosis cutis et mucosae
Hyaluronidase 2 deficiency
Hyaluronidase deficiency
Hybrid acute leukemia
Hydatid disease
Hydatidiform mole
Hydatidosis
Hyde Forster-McCarthy-Berry syndrome
Hydranencephaly
Hydrargyria
Hydroa aestivale
Hydroa-like cutaneous T-cell lymphoma
Hydroa vacciniforme
Hydroa vacciniforme-like lymphoma
Hydrocephalus-agyria-retinal dysplasia syndrome
Hydrocephalus-blue sclerae-nephropathy syndrome
Hydrocephalus-cleft palate-joint contractures syndrome
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Hydrocephalus-endocardial fibroelastosis-cataract syndrome
Hydrocephalus-obesity-hypogonadism syndrome
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hydrocephaly-cerebellar agenesis syndrome
Hydrocephaly/hydranencephaly due to cerebral vasculopathy
Hydrocephaly-low insertion umbilicus syndrome
Hydrocephaly-tall stature-joint laxity syndrome
Hydrolethalus
Hydrometrocolpos-postaxial polydactyly syndrome
Hydromyelia
Hydronephrosis-inverted smile syndrome
Hydrops-ectopic calcification-motheaten syndrome
Hydrops fetalis
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hydroxykynureninuria
Hydroxymethylglutaric aciduria
Hymenolepiasis
Hyperadrenocorticism
Hyperalaninemia
Hyperalphalipoproteinemia
Hyperammonemia due to N-acetylglutamate synthase deficiency
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Hyperandrogenism due to cortisone reductase deficiency
Hyperargininemia
Hyper-beta-alaninemia
Hyperbilirubinemia, Rotor type
Hyperbilirubinemia type 2
Hyperbiliverdinemia
Hypercalcemic tumoral calcinosis
Hypercalciuria-bilateral macular coloboma syndrome
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hypercontractile muscle stiffness syndrome
Hypercortisolism
Hyperdibasic aminoaciduria type 1
Hyperdibasic aminoaciduria type 2
Hyperekplexia
Hyperekplexia
Hyperekplexia-epilepsy syndrome
Hypereosinophilic syndrome
Hyperglycerolemia
Hypergonadotropic hypogonadism-cataract syndrome
Hypergonadotropic ovarian dysgenesis
Hyperhistidinemia
Hyper-IgD syndrome
Hyper-IgE syndrome
Hyper-IgM syndrome due to CD40 deficiency
Hyper-IgM syndrome due to CD40L deficiency
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase
Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 4
Hyper-IgM syndrome type 5
Hyper-IgM syndrome without susceptibility to opportunistic infections
Hyper-IgM syndrome with susceptibility to opportunistic infections
Hyperimidodipeptiduria
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D syndrome
Hyperimmunoglobulinemia D with periodic fever
Hyperimmunoglobulin E-recurrent infection syndrome
Hyperimmunoglobulin E syndrome type 1
Hyperinsulinemic hypoglycaemia
Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form
Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form
Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form
Hyperinsulinemic hypoglycemia due to glucokinase deficiency
Hyperinsulinemic hypoglycemia due to HNF1A deficiency
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to INSR deficiency
Hyperinsulinism due to monocarboxylate transporter 1 deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SLC16A1 deficiency
Hyperinsulinism due to UCP2 deficiency
Hyperinsulinism-hyperammonemia syndrome
Hyperkalemia-hypertension syndrome, Gordon type
Hyperkalemic periodic paralysis
Hyperkalemic PP
Hyperkeratosis-hyperpigmentation syndrome
Hyperkeratosis lenticularis perstans
HyperKPP
Hyperlipidemia due to hepatic lipase deficiency
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Hyperlipidemia due to HL deficiency
Hyperlipidemia due to HTGL deficiency
Hyperlipidemia type 3
Hyperlipoproteinemia type 3
Hyperlysinemia
Hyperlysinemia type I
Hyperlysinemia type II
Hypermethioninemia due to glycine N-methyltransferase deficiency
Hypermethioninemia due to GNMT deficiency
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Hypermethioninemia encephalopathy due to ADK deficiency
Hypermobile Ehlers-Danlos syndrome
Hypernychthemeral syndrome
Hyperornithinemia
Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperostosis corticalis deformans juvenilis
Hyperostosis corticalis generalisata
Hyperostosis cranialis interna
Hyperostosis frontalis interna
Hyperostosis generalisata with striations
Hyperparathyroidism-jaw tumor syndrome
Hyperphalangy
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Hyperphenylalaninemia due to BH4 deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to dihydropteridine reductase deficiency
Hyperphenylalaninemia due to DNAJC12 deficiency
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemic embryopathy
Hyperphosphatasemia tarda
Hyperphosphatasia-intellectual disability syndrome
Hyperpigmentation of the skin
Hyperplastic polyposis syndrome
HyperPP
Hyperprolinemia type 1
Hyperprolinemia type 2
Hyperprostaglandin E syndrome
Hypersensitivity pneumonitis
Hypertelorism-hypospadias-polysyndactyly syndrome
Hypertelorism-microtia-facial clefting syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
Hypertelorism, Teebi type
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Hypertensive hyperkalemia
Hyperthermia of anesthesia
Hypertrichosis-acromegaloid facial appearance syndrome
Hypertrichosis-acromegaloid facial features syndrome
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
Hypertrichosis-coarse face syndrome
Hypertrichosis cubiti
Hypertrichosis lanuginosa congenita
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
Hypertrichosis universalis
Hypertrichosis with or without gingival hyperplasia
Hypertrichotic osteochondrodysplasia, Cantu type
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation
Hypertrophic cardiomyopathy due to intensive athletic training
Hypertrophic gastropathy without hypoproteinemia
Hypertrophic or verrucous lupus erythematosus
Hypertryptophanemia
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hyperzincemia and hypercalprotectinemia
Hypnic headache
Hypoalphalipoproteinemia
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Hypobetalipoproteinemia
Hypocalcemic rickets
Hypocalcemic vitamin D-dependent rickets
Hypocalcemic vitamin D-resistant rickets
Hypocalcified amelogenesis imperfecta
Hypochondrogenesis
Hypochondroplasia
Hypocomplementemic urticarial vasculitis
Hypodontia-dysplasia of nails syndrome
Hypodontia-nail dysgenesis syndrome
Hypogenetic lung syndrome
Hypoglossia/aglossia
Hypoglossia-hypodactyly syndrome
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
Hypogonadotropic hypogonadism associated with other endocrinopathies
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypokalemic periodic paralysis
Hypomagnesemia caused by selective magnesium malabsorption
Hypomagnesemia intestinal type 1
Hypomandibular faciocranial dysostosis
Hypomaturation amelogenesis imperfecta
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hypomelanosis of Ito
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Hypomyelinating leukodystrophy due to hikeshi deficiency
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Hypomyelination-congenital cataract syndrome
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Hypomyelination neuropathy-arthrogryposis syndrome
Hypomyelination-spondylometaphyseal dysplasia syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Hypophosphatasia
Hypophosphatemic rickets
Hypophyseal duplication
Hypophyseal gigantism
Hypopigmentation and punctate keratosis of the palms and soles
Hypopigmentation-deafness syndrome
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
Hypopigmentation-neurologic impairment syndrome
Hypopigmentation of the skin
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypopituitarism due to empty sella turcica syndrome
Hypoplasia of the mitral valve annulus
Hypoplasminogenemia
Hypoplastic amelogenesis imperfecta
Hypoplastic left heart syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Hypoplastic right heart syndrome
Hypoplastic tibiae-postaxial polydactyly syndrome
Hypoplastic tibia-polydactyly syndrome
Hypoproconvertinemia
Hypoproteinemic hypertrophic gastropathy
Hypoprothrombinemia
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Hypospadias-dysphagia syndrome
Hypospadias-hypertelorism syndrome
Hypospadias-intellectual disability, Goldblatt type syndrome
Hypotelorism-cleft palate-hypospadias syndrome
Hypothalamic adipsic hypernatraemia syndrome
Hypothalamic hamartoblastoma syndrome
Hypothalamic hamartomas with gelastic seizures
Hypothyroidism-cleft palate syndrome
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Hypothyroidism due to TSH receptor mutations
Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
Hypotonia and ichthyosis due to dolichol phosphate deficiency
Hypotonia-cystinuria syndrome
Hypotonia-cystinuria type 1 syndrome
Hypotonia-failure to thrive-microcephaly syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome
Hypotonia with lactic acidemia and hyperammonemia
Hypotrichosis-congenital ichthyosis syndrome
Hypotrichosis-deafness syndrome
Hypotrichosis-intellectual disability, Lopes type
Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis, Marie Unna type
Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Hypotrichosis simplex
Hypotrichosis simplex of the scalp
Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
Hypotrichosis with juvenile macular degeneration
Hypotrichosis with juvenile macular dystrophy
Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase complete deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Hypoxic and ischemic brain injury in the newborn
Hypoxic-ischemic encephalopathy
HYPP
Hypsicephaly
Hypsocephaly
Hz/Hc

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