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