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1198 Result(s)
- H syndrome
- H-ABC
- H-SMD
- H-type tracheoesophageal fistula
- H1-4-related neurodevelopmental disorder
- HA20-related monogenic Behcet-like disease
- Haberland syndrome
- Haddad syndrome
- Hadziselimovic syndrome
- HAE
- HAE 1
- HAE 2
- HAE 3
- HAE with C1 inhibitor deficiency
- HAE with C1Inh deficiency
- HAE with normal C1 inhibitor
- HAE with normal C1Inh
- HAE-I
- HAE-II
- HAE-III
- Haemoglobin Bart's disease
- Haemoglobin Bart's hydrops fetalis
- Haemoglobin Bart's hydrops fetalis syndrome
- HAFOUS
- HAFOUS due to USP7 mutation
- Hailey-Hailey disease
- Haim-Munk syndrome
- Hair anomaly
- Hair-nail ectodermal dysplasia
- Hairy cell leukemia variant
- Hairy elbows syndrome
- Hairy throat syndrome
- Hajdu-Cheney syndrome
- HAL deficiency
- Hal-Berg-Rudolph syndrome
- Halal-Setton-Wang syndrome
- Halasz syndrome
- Hall-Hittner syndrome
- Hall-Riggs syndrome
- Hallermann-Streiff syndrome
- Hallermann-Streiff-François syndrome, severe form
- Hallermann-Streiff-like syndrome
- Hallervorden-Spatz syndrome
- Hallux varus-preaxial polysyndactyly syndrome
- Haltia-Santavuori disease
- HAM syndrome
- HAM/TSP
- Hamamy syndrome
- Hamanishi-Ueba-Tsuji syndrome
- Hamano-Tsukamoto syndrome
- Hamartomatous intestinal polyposis
- Hamel cerebro-palato-cardiac syndrome
- Hamman-Rich syndrome
- 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
- Hao-Fountain syndrome
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Hao-Fountain syndrome due to USP7 mutation
- HAPE
- Hapnes-Boman-Skeie syndrome
- Haptocorrin deficiency
- Harboyan syndrome
- Hard skin syndrome, Parana type
- HARD syndrome
- Hardcastle syndrome
- Harderoporphyria
- Hardikar syndrome
- Harding ataxia
- Harel-Yoon syndrome
- Harlequin ichthyosis
- Harlequin syndrome
- Harrod syndrome
- Hartnup disease
- Hartnup disorder
- Hartsfield syndrome
- HAS
- Hashimoto encephalitis
- Haspeslagh-Fryns-Muelenaere syndrome
- HAT
- hATTR
- HAVM
- Hawkinsinuria
- Hay-Wells syndrome
- Hb Bart's hydrops fetalis
- Hb Bart's hydrops fetalis syndrome
- HbC-beta-thalassemia syndrome
- HbCC disease
- HbE-beta-thalassemia syndrome
- HbH disease
- HBHF
- HBID
- HbLepore-beta-thalassemia syndrome
- HbS-beta+ thalassemia
- HbS-beta-plus-thalassemia
- HbS-beta-thalassemia syndrome
- HbS-beta-zero-thalassemia
- HbS-beta0 thalassemia
- HbSC disease
- HbSD disease
- HbSE disease
- HBSL
- HCC
- HCD
- HCDD
- HCHWA
- HCHWA, Arctic type
- HCHWA, Dutch type
- HCHWA, Flemish type
- HCHWA, Icelandic type
- HCHWA, Iowa type
- HCHWA, Italian type
- HCHWA, Piedmont type
- HCHWA-D
- HCL-C
- HCL-v
- HCS
- HD-HA syndrome
- HDFN
- HDGC
- HDKR
- HDL1
- HDL2
- HDL3
- HDL4
- HDLS
- HDR syndrome
- HDV
- HE
- Head and neck squamous cell carcinoma
- Hearing loss with labyrinthine aplasia, microtia, and microdontia
- Hearing loss-craniofacial syndrome
- Hearing loss-dystonia-optic neuronopathy syndrome
- Hearing loss-ear malformation-facial palsy syndrome
- Hearing loss-enamel hypoplasia-nail defects syndrome
- Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
- Hearing loss-epiphyseal dysplasia-short stature syndrome
- Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Hearing loss-Hermann type symphalangism syndrome
- Hearing loss-hypogonadism syndrome
- Hearing loss-infertility syndrome
- Hearing loss-intellectual disability syndrome, Martin-Probst type
- Hearing loss-nephritis-ano-rectal malformation syndrome
- Hearing loss-oligodontia syndrome
- Hearing loss-onychodystrophy syndrome
- Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
- Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
- Hearing loss-onychoosteodystrophy-intellectual disability syndrome
- Hearing loss-pili torti-hypogonadism syndrome
- Hearing loss-skeletal dysplasia-coarse face with full lips syndrome
- Hearing loss-skeletal dysplasia-lip granuloma syndrome
- Hearing loss-small bowel diverticulosis-neuropathy syndrome
- Hearing loss-vitiligo-achalasia syndrome
- Heart defect-tongue hamartoma-polysyndactyly syndrome
- Heart defects-limb shortening syndrome
- Heart position anomaly
- Heart tumor of child
- Heart-hand syndrome
- Heart-hand syndrome type 1
- Heart-hand syndrome type 2
- Heart-hand syndrome type 3
- Heart-hand syndrome, Slovenian type
- Heart-hand syndrome, Spanish type
- Heart-limb syndrome type 3
- Heavy chain amyloidosis
- Heavy chain deposition disease
- Heavy chain disease
- HEC syndrome
- Hecht syndrome
- Hecht-Beals syndrome
- Hecht-Scott syndrome
- HED
- HED-ID
- HEDH syndrome
- hEDS
- Heimler syndrome
- Heiner syndrome
- Helicoid peripapillary chorioretinal degeneration
- HELIX syndrome
- Heller syndrome
- HELLP syndrome
- Helsmoortel-Van Der Aa Syndrome
- HEM dysplasia
- HEM1 deficiency syndrome
- Hemangioblastoma
- Hemangiolymphangioma
- Hemangioma-thrombocytopenia syndrome
- Hematological disease associated with an acquired peripheral neuropathy
- Hematological disorder with renal involvement
- Heme oxygenase-1 deficiency
- Hemi 3 syndrome
- Hemi-myelomeningocele
- Hemi-myeloschisis
- Hemiconvulsion-hemiplegia-epilepsy syndrome
- Hemicorporal hypertrophy
- Hemicrania continua
- Hemidystonia-hemiatrophy syndrome
- Hemifacial atrophy
- Hemifacial hyperplasia
- Hemifacial hyperplasia-strabismus syndrome
- Hemifacial hypertrophy
- Hemifacial microsomia-radial defects syndrome
- Hemifacial myohyperplasia
- Hemifacial spasm
- Hemihyperplasia-multiple lipomatosis syndrome
- Hemimegalencephaly
- Hemiparkinsonism-hemiatrophy syndrome
- Hemitruncus arteriosus
- Hemochromatosis type 2
- Hemoglobin Bart's disease
- Hemoglobin Bart's hydrops fetalis
- Hemoglobin Bart's hydrops fetalis syndrome
- Hemoglobin C disease
- Hemoglobin C-beta-thalassemia syndrome
- Hemoglobin D disease
- Hemoglobin E disease
- Hemoglobin E-beta-thalassemia syndrome
- Hemoglobin H disease
- Hemoglobin Lepore-beta-thalassemia syndrome
- Hemoglobin M disease
- Hemoglobin S-C disease
- Hemoglobin S-D Punjab disease
- Hemoglobin S-E disease
- Hemoglobinopathy
- Hemoglobinopathy Toms River
- Hemolysis, elevated liver enzymes, low platelets in pregnancy
- Hemolysis-elevated liver enzymes-low platelets syndrome
- Hemolytic anemia due to a disorder of glycolytic enzymes
- Hemolytic anemia due to adenylate kinase deficiency
- 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 B Leyden
- Hemophilia C
- Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
- Hemorrhagic fever-renal syndrome
- Hemorrhagiparous thrombocytic dystrophy
- Hemosiderosis of the central nervous system
- HEMS
- Hendra virus infection
- Hengel-Maroofian-Schols syndrome
- Hennekam syndrome
- Henoch-Schönlein purpura
- HEP
- Heparan sulfamidase deficiency
- Heparan-alpha-glucosaminide N-acetyltransferase deficiency
- Heparin-associated thrombocytopenia
- Heparin-induced thrombocytopenia
- Heparin-induced thrombocytopenia type 2
- Hepatic adenomatosis
- Hepatic arteriovenous malformation
- Hepatic carnitine palmitoyl transferase 1 deficiency
- Hepatic carnitine palmitoyl transferase I deficiency
- Hepatic cutaneous porphyria
- Hepatic cystic hamartoma
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Hepatic glycogen phosphorylase deficiency
- Hepatic phosphorylase deficiency
- Hepatic porphyria
- Hepatic solitary necrotic nodule
- Hepatic veno-occlusive disease
- Hepatic veno-occlusive disease-immunodeficiency syndrome
- Hepatitis B reinfection following liver transplantation
- Hepatitis D virus
- Hepatitis delta
- 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-I variant
- Hereditary amyloid nephropathy due to apolipoprotein A-II variant
- Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant
- Hereditary amyloid nephropathy due to lysozyme variant
- Hereditary amyloidosis
- Hereditary amyloidosis with primary renal involvement
- Hereditary amyloidosis, Finnish type
- 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 C1 inhibitor
- Hereditary angioedema with normal C1Inh
- Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
- Hereditary angioneurotic edema
- Hereditary angioneurotic edema type 1
- Hereditary angioneurotic edema type 2
- Hereditary angioneurotic edema type 3
- Hereditary angioneurotic edema with C1 inhibitor deficiency
- Hereditary angioneurotic edema with C1Inh deficiency
- Hereditary angioneurotic edema with normal C1 inhibitor
- Hereditary angioneurotic edema with normal C1Inh
- Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
- Hereditary areflexic dystasia, Roussy-Lévy type
- Hereditary arginine vasopressin deficiency
- Hereditary arterial and articular multiple calcification syndrome
- Hereditary articular chondrocalcinosis
- Hereditary ataxia
- Hereditary ATTR amyloidosis
- Hereditary ATTRV30M-related amyloidosis
- Hereditary benign corneal intraepithelial dyskeratosis
- Hereditary benign intraepithelial dyskeratosis
- Hereditary bradykinine-induced angioedema
- Hereditary brain cavernous angioma
- Hereditary breast and/or ovarian cancer syndrome
- Hereditary breast cancer
- Hereditary breast carcinoma
- Hereditary bullous dystrophy, macular type
- Hereditary bundle branch defect
- Hereditary butyrylcholinesterase deficiency
- Hereditary calcium pyrophosphate deposition
- Hereditary cancer of stomach
- Hereditary CC
- Hereditary CDI
- 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 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 cystic renal disease
- Hereditary dentin defect
- Hereditary diffuse cancer of stomach
- Hereditary diffuse gastric adenocarcinoma
- Hereditary diffuse gastric cancer
- 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 intolerance
- Hereditary fructose-1-phosphate aldolase deficiency
- Hereditary fructosemia
- Hereditary gastric cancer
- Hereditary geniospasm
- Hereditary gingival fibromatosis
- Hereditary gingival hyperplasia
- Hereditary glaucoma
- Hereditary hemochromatosis type 3
- Hereditary hemorrhagic telangiectasia
- Hereditary hollow visceral myopathy
- Hereditary hypercarotenemia and vitamin A deficiency
- Hereditary hypercholanemia
- Hereditary hyperekplexia
- Hereditary hyperexplexia
- Hereditary hyperferritinemia with cataracts
- Hereditary hyperferritinemia-cataract disease
- Hereditary hyperferritinemia-cataract syndrome
- 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 type 2
- Hereditary inclusion body myopathy type 3
- Hereditary inclusion body myopathy type 4
- Hereditary inclusion body myopathy with early respiratory failure
- Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
- 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 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 motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers
- 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 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 nephrotic syndrome
- 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 keratoderma
- Hereditary papillary renal cell carcinoma
- Hereditary periodic fever syndrome
- Hereditary persistence of alpha-fetoprotein
- Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- Hereditary persistence of fetal hemoglobin-intellectual disability 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 pseudocholinesterase deficiency
- Hereditary pseudohaemophilia
- 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-I variant
- Hereditary renal amyloidosis due to apolipoprotein A-II variant
- Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant
- Hereditary renal amyloidosis due to lysozyme variant
- Hereditary renal hypouricemia
- Hereditary retinoblastoma
- Hereditary SB-NET
- 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 1 with cough and gastroesophageal reflux
- Hereditary sensory and autonomic neuropathy type 1B
- 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 hearing loss 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 SI-NET
- Hereditary sick sinus syndrome
- Hereditary sodium channelopathy-related small fibers neuropathy
- Hereditary spastic paraparesis
- Hereditary spastic paraparesis type 15
- Hereditary spastic paraplegia
- Hereditary spherocytosis
- Hereditary SRNS
- 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 transthyretin amyloid polyneuropathy
- Hereditary TTR amyloid polyneuropathy
- Hereditary TTR amyloidosis
- 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-Wunderlich syndrome
- Hermansky-Pudlak syndrome
- Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency
- Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency
- Hermansky-Pudlak syndrome due to AP-3 deficiency
- Hermansky-Pudlak syndrome due to AP3B1 deficiency
- Hermansky-Pudlak syndrome due to BLOC-1 deficiency
- Hermansky-Pudlak syndrome due to BLOC-2 deficiency
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency
- Hermansky-Pudlak syndrome type 10
- Hermansky-Pudlak syndrome type 2
- Hermansky-Pudlak syndrome with neutropenia
- Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency
- Hermansky-Pudlak syndrome with pulmonary fibrosis
- Hermansky-Pudlak syndrome without pulmonary fibrosis
- Hernández-Aguirre Negrete syndrome
- Hernández-Fragoso syndrome
- Herpes simplex meningo-encephalitis
- Herpes simplex neuroinvasion
- Herpes simplex virus encephalitis
- Herpes simplex virus stromal keratitis
- Herpetic encephalitis
- Herpetiform pemphigus
- Hers disease
- Herva disease
- HES
- HES-L
- HES-M
- HES-N
- HES-R
- HESJAS
- Heterotaxia
- Heterotaxy syndrome
- Heterozygous microdeletion 17p11.2p12
- HEXA disorder
- HEXA disorder, adult form
- HEXA disorder, infantile form
- HEXA disorder, juvenile form
- Hexosaminidase activator deficiency
- Heyn-Sproul-Jackson syndrome
- HF
- HFGS
- HGPPS
- HGPS
- HGSNAT deficiency
- HH
- HHCS
- HHE
- HHE syndrome
- HHH syndrome
- HHML
- HHRH
- HHT
- HHV-8-associated multicentric Castleman disease
- HHV-8-negative multicentric Castleman disease
- HHV-8-related disorder
- HI
- HI/HA syndrome
- HIBCH deficiency
- HIBM-ERF
- HIBM2
- HIBM3
- HIBM4
- HIDEA syndrome
- 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 B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
- High myopia-sensorineural deafness syndrome
- High myopia-sensorineural hearing loss syndrome
- High scapula
- High-grade astrocytoma
- 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
- HIGM with susceptibility to opportunistic infections
- HIGM without susceptibility to opportunistic infections
- HIGM1
- HIGM2
- HIGM3
- HIGM4
- HIGM5
- Hilar CCA
- Hilar cholangiocarcinoma
- Hinman syndrome
- Hinman-Allen syndrome
- Hinson-Pepys disease
- Hip dysplasia, Beukes type
- Hip dysplasia-enchondromata-ecchondroma syndrome
- Hippocampal memory defect leukoencephalopathy
- Hippocampal sclerosis-related mesial temporal lobe epilepsy
- 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-hearing loss-polydactyly 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
- Histoplasmosis
- HIT
- HIV-associated cancer
- HIV-related cancer
- HJMD
- HJV or HAMP-related hemochromatosis
- HLH
- HLHS
- HLP type 3
- HLRCC
- HMC syndrome
- HMERF
- HMG-CoA lyase deficiency
- HMG-CoA synthase deficiency
- HMPS
- HMSN 3
- HMSN 4
- HMSN 5
- HMSN 6
- HMSN III
- HMSN IV
- HMSN V
- HMSN VI
- HMSN with acrodystrophy
- HMSN, Lom type
- HMSN-Lom
- HMSN2 with giant axons
- HMSNP
- HMSNR
- HNED
- HNF1B-MODY
- HNF1B-related autosomal dominant tubulointerstitial kidney disease
- HNF1B-related nephropathy
- HNPCC
- HNPP
- HNRNPDL-related LGMD D3
- HNRNPDL-related limb-girdle muscular dystrophy D3
- HNRNPH2-Related Neurodevelopmental Disorder
- HNRNPK-related neurodevelopmental disorder
- HNRNPR-related neurodevelopmental disorder
- HNRPH1-related neurodevelopmental disorder
- HNSCC
- HO-1 deficiency
- Hobnail hemangioma
- HOD
- Hodgkin lymphoma
- Hoepffner-Dreyer-Reimers syndrome
- Hoffman syndrome
- Hoffmann syndrome
- HoFH
- HOGA
- Holmes-Adie syndrome
- Holmes-Collins syndrome
- Holmes-Schepens syndrome
- Holocarboxylase synthetase deficiency
- Holohemispheric giant cerebral arteriovenous malformation
- Holoprosencephaly
- Holoprosencephaly, minor form
- Holoprosencephaly-caudal dysgenesis syndrome
- Holoprosencephaly-craniosynostosis syndrome
- Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
- Holoprosencephaly-like
- 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 CBS deficiency
- 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
- Homozygous hemoglobin S
- Homozygous sickle cell anemia SS
- Honey-droplet corneal dystrophy
- Honeycomb corneal dystrophy
- Hookworm infection
- HOPP syndrome
- Horizontal gaze palsy with progressive scoliosis
- Hornstein-Knickenberg syndrome
- Horton disease
- HOS
- Hot water reflex epilepsy
- Houge-Janssens syndrome-1
- Houlston-Ironton-Temple syndrome
- Howell-Evans syndrome
- Hoyeraal-Hreidarsson syndrome
- HP-HA syndrome
- HPAH
- HPD with diurnal fluctuation
- HPD with marked diurnal fluctuation
- HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
- HPDL-related Leigh-like encephalopathy
- HPE
- HPE, minor form
- HPE-L
- HPFH-beta-thalassemia syndrome
- HPFH-sickle cell disease syndrome
- HPP
- HPPD
- HPRC
- HPRT complete deficiency
- HPRT deficiency
- HPRT deficiency grade IV
- HPRT deficiency, grade I
- HPRT partial deficiency
- HPRT-related gout
- HPRT-related hyperuricemia
- HPRT1 deficiency
- HPRT1 partial deficiency
- HPS
- HPS with pulmonary fibrosis
- HPS without pulmonary fibrosis
- HPS10
- HPS2
- HPT-JT
- HRD syndrome
- HS
- HS-MTLE
- HSAN
- HSAN due to TECPR2 mutation
- HSAN with cough and gastroesophageal reflux
- HSAN with deafness and global delay
- HSAN with hearing loss and global delay
- HSAN with hyperhidrosis and gastrointestinal dysfunction
- HSAN1
- HSAN1B
- HSAN1E
- HSAN2
- HSAN3
- HSAN4
- HSAN5
- HSAN6
- HSAN7
- HSAN8
- 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
- HSN1E
- HSP
- HSV encephalitis
- HSVE
- 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
- Hughes syndrome
- Hughes-Stovin syndrome
- Human dermatosparaxis EDS VIIC
- Human herpesvirus 8-related disorder
- Human herpesvirus-8-associated multicentric Castleman disease
- Human herpesvirus-8-negative multicentric Castleman disease
- Human infection by orthopoxvirus
- Human prion disease
- Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis
- Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis
- Humerus trochlea aplasia
- Hunter syndrome
- Hunter syndrome type A
- Hunter syndrome type B
- Hunter-Jurenka-Thompson syndrome
- Hunter-McAlpine syndrome
- Hunter-Rudd-Hoffmann syndrome
- Hunter-Thompson-Reed syndrome
- Huntington chorea
- Huntington disease
- Huntington disease phenocopy due to C9ORF72 expansions
- Huntington disease phenocopy syndrome
- 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
- Huppke-Brendel syndrome
- HUPRA syndrome
- Huriez syndrome
- Hurler disease
- Hurler syndrome
- Hurler-Scheie syndrome
- HUS
- HUS with DGKE deficiency
- Hutchinson summer prurigo
- Hutchinson-Gilford progeria syndrome
- HVDAS
- HVDRR
- HVLL
- HWW syndrome
- Hyaline body myopathy
- Hyaline fibromatosis syndrome
- Hyaline membrane disease
- Hyalinosis cutis et mucosae
- Hyaluronidase 2 deficiency
- Hyaluronidase deficiency
- Hybrid acute leukemia
- Hydatid cyst
- Hydatid disease
- Hydatidiform mole
- Hydatidosis
- Hyde Forster-McCarthy-Berry syndrome
- Hydranencephaly
- Hydrargyria
- Hydroa aestivale
- Hydroa vacciniforme
- Hydroa vacciniforme-like lymphoma
- Hydroa-like cutaneous T-cell lymphoma
- Hydrocephalus with stenosis of the aqueduct of Sylvius
- 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
- Hydrocephaly-cerebellar agenesis syndrome
- Hydrocephaly-low insertion umbilicus syndrome
- Hydrocephaly-tall stature-joint laxity syndrome
- Hydrocephaly/hydranencephaly due to cerebral vasculopathy
- Hydrolethalus
- Hydrometrocolpos-postaxial polydactyly syndrome
- Hydronephrosis-inverted smile syndrome
- Hydrops fetalis
- Hydrops-ectopic calcification-motheaten syndrome
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- Hydroxykynureninuria
- Hydroxymethylglutaric aciduria
- Hymenolepiasis
- Hyper-beta-alaninemia
- Hyper-IgD syndrome
- Hyper-IgE syndrome
- Hyper-IgM syndrome due to CD40 deficiency
- Hyper-IgM syndrome due to CD40 ligand deficiency
- Hyper-IgM syndrome due to CD40L 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 with susceptibility to opportunistic infections
- Hyper-IgM syndrome without susceptibility to opportunistic infections
- Hyperalaninemia
- Hyperammonemia due to N-acetylglutamate synthase deficiency
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- Hyperandrogenism due to cortisone reductase deficiency
- Hyperargininemia
- Hyperbilirubinemia type 2
- Hyperbilirubinemia, Rotor type
- 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
- Hyperdibasic aminoaciduria
- Hyperekplexia
- Hyperekplexia-epilepsy syndrome
- Hypereosinophilic syndrome
- Hyperglycerolemia
- Hypergonadotropic hypogonadism-cataract syndrome
- Hypergonadotropic ovarian dysgenesis
- Hyperhistidinemia
- Hyperimidodipeptiduria
- Hyperimmunoglobinemia D with recurrent fever
- Hyperimmunoglobulinemia D syndrome
- Hyperimmunoglobulinemia D with periodic fever
- Hyperinsulinemic hypoglycaemia
- 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
- Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form
- Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form
- Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form
- Hyperinsulinism due to glutamodehydrogenase deficiency
- Hyperinsulinism due to HNF1A 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 lenticularis perstans
- Hyperkeratosis-hyperpigmentation syndrome
- 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 encephalopathy due to adenosine kinase deficiency
- Hypermethioninemia encephalopathy due to ADK deficiency
- Hypermobile EDS
- 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-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
- Hypersensitivity pneumonitis
- Hypertelorism-hypospadias syndrome
- 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
- Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
- Hypertensive hyperkalemia
- Hyperthermia of anesthesia
- Hypertrichosis cubiti
- Hypertrichosis lanuginosa congenita
- Hypertrichosis universalis
- Hypertrichosis with or without gingival hyperplasia
- Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
- Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
- Hypertrichotic osteochondrodysplasia
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation
- Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
- Hypertrophic gastropathy without hypoproteinemia
- Hypertrophic olivary degeneration
- Hypertrophic or verrucous lupus erythematosus
- Hypertryptophanemia
- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- Hyperzincemia and hypercalprotectinemia
- Hypnic headache
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- Hypoalphalipoproteinemia
- Hypobetalipoproteinemia
- Hypocalcemic rickets
- Hypocalcemic vitamin D-dependent rickets
- Hypocalcemic vitamin D-resistant rickets
- Hypocalcified amelogenesis imperfecta
- Hypochondrogenesis
- Hypochondroplasia
- Hypocomplementemic urticarial vasculitis
- Hypocretin/orexin deficiency syndrome
- Hypodiploid ALL
- Hypodontia-dysplasia of nails syndrome
- Hypodontia-nail dysgenesis syndrome
- Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome
- Hypogammaglobulinemia-skin involvement-failure to thrive syndrome
- Hypogenetic lung syndrome
- Hypoglossia-hypodactyly syndrome
- Hypoglossia/aglossia
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
- 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 with immunodeficiency
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- 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
- Hypomyelinating leukodystrophy due to hikeshi deficiency
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
- Hypomyelination neuropathy-arthrogryposis syndrome
- Hypomyelination of early myelinating structures
- Hypomyelination with atrophy of basal ganglia and cerebellum
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
- Hypomyelination-congenital cataract syndrome
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- Hypomyelination-spondyloepimetaphyseal dysplasia syndrome
- Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
- Hypoparathyroidism-intellectual disability-dysmorphism syndrome
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- Hypoparathyroidism-sensorineural hearing loss-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 of the skin
- Hypopigmentation-deafness syndrome
- Hypopigmentation-hearing loss syndrome
- Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
- Hypopigmentation-neurologic impairment syndrome
- 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
- Hypoproconvertinemia
- Hypoproteinemic hypertrophic gastropathy
- Hypoprothrombinemia
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- Hypospadias, severe form
- Hypospadias-dysphagia syndrome
- Hypospadias-intellectual disability, Goldblatt type syndrome
- Hypotelorism-cleft palate-hypospadias syndrome
- Hypothalamic adipsic hypernatraemia syndrome
- Hypothalamic hamartoblastoma syndrome
- Hypothalamic hamartoma with gelastic seizures
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Hypothyroidism due to TSH receptor mutations
- Hypothyroidism-cleft palate syndrome
- Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
- Hypotonia and ichthyosis due to dolichol phosphate deficiency
- Hypotonia with lactic acidemia and hyperammonemia
- Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome
- Hypotonia-cystinuria syndrome
- Hypotonia-cystinuria type 1 syndrome
- Hypotonia-failure to thrive-microcephaly syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Hypotrichosis simplex
- Hypotrichosis simplex of the scalp
- Hypotrichosis with juvenile macular degeneration
- Hypotrichosis with juvenile macular dystrophy
- Hypotrichosis, Marie Unna type
- Hypotrichosis-congenital ichthyosis syndrome
- Hypotrichosis-deafness syndrome
- Hypotrichosis-hearing loss syndrome
- Hypotrichosis-intellectual disability, Lopes type
- Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
- Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
- Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
- Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
- Hypoxanthine guanine phosphoribosyltransferase complete deficiency
- Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
- Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency
- Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
- Hypoxanthine-guanine phosphoribosyltransferase deficiency
- Hypoxic and ischemic brain injury in the newborn
- Hypoxic-ischemic encephalopathy
- HYPP
- Hz/Hc