List of rare diseases-H

NIH genetic and rare disease info

• NIH info on List of rare diseases-H

List of rare diseases-H is a rare disease.

• H syndrome
• H. influenzae
• HA/HI syndrome
• HABC
• H-ABC
• Haberland syndrome
• Habrodysplasia
• Habsburg jaw
• HADH deficiency
• HAE
• Haemoglobinemia
• Haemophilia A
• Haemophilus influenzae
• Haemorrhagic proctocolitis
• HAF deficiency
• Hageman factor deficiency
• Hailey-Hailey disease
• Haim-Munk syndrome
• Hair defect-photosensitivity-intellectual disability syndrome
• HAIR-AN syndrome- not a rare disease.
• Hair-pulling syndrome- not a rare disease.
• Hairy cell leukemia
• Hairy cutaneous malformations of palms and soles
• Hairy elbows
• Hairy elbows, short stature, facial dysmorphism, and developmental delay
• Hairy epidermal nevus syndrome
• Hairy nose tip
• Hairy palms and soles
• Hairy throat
• Hairy throat syndrome
• Hairy tongue- not a rare disease.
• Hajdu-Cheney syndrome
• HAL deficiency
• Halal Setton Wang syndrome
• Halal syndrome
• Hallermann Streiff Francois syndrome
• Hallermann Streiff syndrome
• Hallermann-Streiff syndrome
• Hallervorden-Spatz disease
• Hallgren syndrome
• Hall-Hittner syndrome
• Hall-Riggs syndrome
• Hallux syndactyly ulnar polydactyly abnormal ear lobes
• Hallux varus and preaxial polysyndactyly
• Halo nevi
• HAM/TSP
• Hamanishi Ueba Tsuji syndrome
• Hamann Zanki schimrigk syndrome
• Hamano Tsukamoto syndrome
• Hamartoma of the hypothalamus
• Hamman-Rich syndrome
• HANAC syndrome
• Hand and foot deformity - flat facies
• Hand and foot deformity with flat facies
• Hand foot genital syndrome
• Hand foot uterus syndrome
• Handigodu joint disease- not a rare disease.
• HaNDL syndrome
• HANE
• Hangover, susceptibility to
• Hanhart syndrome
• Hansen's disease
• Hantavirus
• Hantavirus pulmonary syndrome
• Hantavirus-associated respiratory distress syndrome
• HAPH
• Hapnes Boman Skeie syndrome
• Happle syndrome
• Happy puppet syndrome (formerly)
• Hapsburg jaw
• Harboyan syndrome
• Hard +/- E syndrome
• Hard skin syndrome Parana type
• Hard syndrome
• Hardikar syndrome
• Harding ataxia
• HARDS
• Harlequin fetus
• Harlequin ichthyosis
• Harlequin syndrome
• Harrod Doman Keele syndrome
• Harrod syndrome
• Hartnup disease
• Hartnup disorder
• Hartsfield syndrome
• HAS
• Hashimoto encephalopathy
• Hashimoto-Pritzker disease
• Hashimoto-Pritzker histiocytosis
• Hashimoto-Pritzker syndrome
• Hashimoto's disease- not a rare disease.
• Hashimoto's encephalopathy
• Hashimoto's struma- not a rare disease.
• Hashimoto's syndrome- not a rare disease.
• Hashimoto's thyroiditis- not a rare disease.
• Haspeslagh syndrome
• Haspeslagh-Fryns-Muelenaere syndrome
• Haw River syndrome
• Hawkinsinuria
• Hay-Wells syndrome
• Hb C disease
• Hb S beta-thalassemia
• HBOC
• HbS - beta-thalassemia
• HbS disease
• HbS-beta-thalassemia syndrome
• HbSC disease
• HbSD disease
• HbSE disease- not a rare disease.
• Hb-Zurich
• HCFP1
• HCG
• HCH
• HCHWA
• HCL
• HCP
• HD
• HDDD
• HDGC
• Hdl lipoprotein deficiency disease
• HDLD
• HDLDT1
• HDLS
• HDR syndrome
• HE
• Head and neck arteriovenous malformation
• Head and neck AVM
• Head and neck cancer- not a rare disease.
• Head and neck squamous cell carcinoma- not a rare disease.
• Hearing loss and familial salivary gland insensitivity to aldosterone
• Hearing loss insensitivity to aldosterone
• Heart block congenital
• Heart block progressive familial type 1
• Heart block progressive familial type 1B
• Heart block progressive familial type 2
• Heart defects and limb shortening
• Heart defect-tongue hamartoma-polysyndactyly syndrome
• Heart septal defects, ventricular
• Heart tumor
• Heart valve pulmonary stenosis
• Heart-hand syndrome
• Heart-hand syndrome 2
• Heart-hand syndrome, Slovenian type
• Heart-hand syndrome, Spanish type
• Heart-hand syndrome, type 1
• Heavy metal poisoning
• Heavy Metal Toxicity
• HEC syndrome
• Hecht syndrome
• Hecht-Scott syndrome
• HED
• HED
• HEDH syndrome
• HED-ID
• hEDS
• Heimler syndrome
• Heinz body anemias
• HELLP syndrome
• Helminthiasis
• Helsmoortel-van der Aa Syndrome
• HEM
• HEM A
• HEM B
• HEM dysplasia
• HEM/Greenberg dysplasia
• Hemangioblastoma
• Hemangioendothelioma
• Hemangioma thrombocytopenia syndrome
• Hemangiomas cavernous of face supraumbilical midline raphe
• Hemangiomatosis Chondrodystrophica
• Hemangiomatosis, familial pulmonary capillary
• Hemangiomatous branchial clefts-lip pseudocleft syndrome
• Hemangiopericytoma
• Hematidrosis
• Hematite pneumoconiosis
• Hematohidrosis
• Heme synthetase deficiency
• Hemeralopia-myopia
• Hemi 3 syndrome
• Hemicord syndrome
• Hemicrania continua
• Hemifacial atrophy, progressive
• Hemifacial hyperplasia strabismus
• Hemifacial microsomia
• Hemifacial microsomia with radial defects
• Hemifacial myohyperplasia
• Hemihyperplasia
• Hemihypertrophy
• Hemihypertrophy and macrocephaly
• Hemimegalencephaly
• Hemiparaplegic syndrome
• Hemiplegia
• Hemiplegic migraine
• Hemiplegic Migraine, Familial
• Hemiplegic migraine, familial type 1
• Hemiplegic migraine, familial type 2
• Hemiplegic migraine, familial type 3
• Hemiplegic-ophthalmoplegic migraine
• Hemispinal cord syndrome
• Hemochromatosis- not a rare disease.
• Hemochromatosis classic- not a rare disease.
• Hemochromatosis due to defect in ferroportin
• Hemochromatosis due to defect in transferrin receptor 2
• Hemochromatosis juvenile
• Hemochromatosis neonatal
• Hemochromatosis type 1- not a rare disease.
• Hemochromatosis type 2
• Hemochromatosis type 3
• Hemochromatosis type 4
• Hemochromatosis type 5
• Hemochromatosis, autosomal dominant
• Hemoglobin C disease
• Hemoglobin E disease
• Hemoglobin M disease
• Hemoglobin S Disease
• Hemoglobin SC disease
• Hemoglobin SE disease- not a rare disease.
• Hemoglobin sickle-beta thalassemia
• Hemoglobin Zurich
• Hemoglobinemia
• Hemoglobinopathy- not a rare disease.
• Hemoglobinuria paroxysmal cold
• Hemolysis, Elevated Liver Enzymes, Lowered Platelets
• Hemolytic anemia due to G6PD deficiency
• Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
• Hemolytic uremic syndrome
• Hemolytic uremic syndrome, atypical, childhood
• Hemophagocytic lymphohistiocytosis
• Hemophagocytic lymphohistiocytosis, familial, 2
• Hemophagocytic lymphohistiocytosis, familial, 3
• Hemophagocytic lymphohistiocytosis, familial, 4
• Hemophagocytic reticulitis
• Hemophagocytic reticulosis
• Hemophilia
• Hemophilia A
• Hemophilia A, congenital
• Hemophilia B
• Hemophilia C
• Hemophilia, classic
• Hemophilic arthropathy
• Hemophilus influenzae
• Hemorrhagic dengue
• Hemorrhagic familial nephritis
• Hemorrhagic hereditary nephritis
• Hemorrhagic jaundice
• Hemorrhagic proctocolitis
• Hemorrhagic shock and encephalopathy syndrome
• Hemorrhagic shock and encephalopathy syndrome
• Hemorrhagic thrombocythemia
• Hemorrhagiparous thrombocytic dystrophy
• Hemosiderosis
• Hemosiderosis, pulmonary, with deficiency of gamma-a globulin
• HEMPAS anemia
• Hench-Rosenberg syndrome
• Hench's syndrome
• Henneguya salminicola
• Hennekam Beemer syndrome
• Hennekam lymphangiectasia lymphedema syndrome
• Hennekam syndrome
• Henoch Schonlein purpura
• Henoch-Schonlein purpura
• HEP
• Heparan sulfamidase deficiency
• Heparan sulfate sulfatase deficiency
• Heparan-alpha-glucosaminide N-acetyltransferase deficiency
• Heparane sulfamidase deficiency
• Heparin-induced thrombocytopenia
• Heparin-induced thrombocytopenia
• Hepatic AGT deficiency
• Hepatic carnitine palmitoyl transferase 1 deficiency
• Hepatic carnitine palmitoyl transferase I deficiency
• Hepatic carnitine palmitoyltransferase 1 deficiency
• Hepatic CPT1
• Hepatic cystic hamartoma
• Hepatic ductular hypoplasia
• Hepatic encephalopathy
• Hepatic fructokinase deficiency- not a rare disease.
• Hepatic glycogen synthase deficiency
• Hepatic glycogenosis with amino aciduria and glucosuria
• Hepatic lipase deficiency
• Hepatic phosphorylase kinase deficiency
• Hepatic veno-occlusive disease
• Hepatic veno-occlusive disease
• Hepatic venoocclusive disease with immunodeficiency
• Hepatitis D
• Hepatitis E
• Hepatitis X
• Hepatoblastoma
• Hepatocellular carcinoma with increased stromal fibrosis
• Hepatocyte nuclear factor 1 beta–associated disease
• Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease
• Hepatoencephalopathy
• Hepatoerythropoietic porphyria
• Hepatofacioneurocardiovertebral syndrome
• Hepatolenticular degeneration
• Hepatopulmonary syndrome
• Hepatorenal form of glycogen storage disease
• Hepatorenal glycogenosis
• Hepatorenal glycogenosis with renal fanconi syndrome
• Hepatorenal glycogenosis with renal Fanconi syndrome
• Hepatorenal syndrome
• Hepato-renal syndrome
• Hepatorenal tyrosinemia
• HEPOD
• Heptacarpo-octatarso-dactyly combined with multiple malformation
• Hereditary absence of proximal interphalangeal joints
• Hereditary alpha tryptasemia syndrome- not a rare disease.
• Hereditary amyloid nephropathy
• Hereditary amyloidosis
• Hereditary amyloidosis with primary renal involement
• Hereditary amyloidosis with primary renal involvement
• Hereditary angioedema
• Hereditary angioedema type 1
• Hereditary angioneurotic edema
• Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
• Hereditary antithrombin deficiency
• Hereditary antithrombin deficiency type 1
• Hereditary antithrombin deficiency type 2
• Hereditary antithrombin deficiency type I
• Hereditary areflexic dystasia
• Hereditary ataxia
• Hereditary ATTR amyloidosis
• Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna
• Hereditary brachial plexus neuropathy
• Hereditary brain cavernous angioma
• Hereditary brain cavernous hemangioma
• Hereditary branchial arch defects
• Hereditary breast cancer- not a rare disease.
• Hereditary breast carcinoma- not a rare disease.
• Hereditary bundle branch defect
• Hereditary cerebral cavernoma
• Hereditary cerebral cavernous malformation
• Hereditary cerebral hemorrhage with amyloidosis
• Hereditary ceruloplasmin deficiency
• Hereditary chin tremor/myoclonus
• Hereditary chronic pancreatitis
• Hereditary congenital controlateral synkinesia
• Hereditary congenital facial paresis
• Hereditary congenital hypopigmented and hyperpigmented macules
• Hereditary congenital mirror movements
• Hereditary coproporphyria
• Hereditary coproporphyria porphyria
• Hereditary cutis marmorata telangiectatica congenita
• Hereditary diffuse cancer of stomach
• Hereditary diffuse gastric adenocarcinoma
• Hereditary diffuse gastric cancer
• Hereditary diffuse leukoencephalopathy with axonal spheroids
• Hereditary diffuse leukoencephalopathy with spheroids
• Hereditary dystopic lipidosis
• Hereditary elliptocytosis
• Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
• Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test
• Hereditary essential myoclonus
• Hereditary essential tremor- not a rare disease.
• Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
• Hereditary folate malabsorption
• Hereditary fructose intolerance
• Hereditary galactokinase deficiency
• Hereditary gelsolin amyloidosis
• Hereditary geniospasm
• Hereditary gingival fibromatosis with hypertrichosis
• Hereditary gingival fibromatosis, 1
• Hereditary gingival fibromatosis, 2
• Hereditary gingival fibromatosis, 3
• Hereditary gingival fibromatosis, 4
• Hereditary hemorrhagic telangiectasia
• Hereditary hemorrhagic telangiectasia type 2
• Hereditary hemorrhagic telangiectasia type 3
• Hereditary hemorrhagic telangiectasia type 4
• Hereditary hyperekplexia
• Hereditary hyperferritinemia cataract syndrome
• Hereditary hyperparathyroidism-jaw tumor syndrome
• Hereditary hyperphosphatasia
• Hereditary inclusion body myopathy
• Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
• Hereditary inclusion body myopathy type 3
• Hereditary inclusion body myopathy with early respiratory failure
• Hereditary iron overload and African Americans
• Hereditary iron-loading anemia
• Hereditary koilonychia
• Hereditary leiomyomatosis and renal cell cancer
• Hereditary lymphedema
• Hereditary lymphedema 1
• Hereditary lymphedema type I
• Hereditary lymphedema type II
• Hereditary lymphedema-distichiasis syndrome (subtype)
• Hereditary macular coloboma (subtype)
• Hereditary methemoglobinemia
• Hereditary methemoglobinemia due to hemoglobin mutation
• Hereditary microcornea, glaucoma, and absent frontal sinuses
• Hereditary motor and sensory neuropathy
• Hereditary motor and sensory neuropathy
• Hereditary motor and sensory neuropathy 1
• Hereditary motor and sensory neuropathy 1A
• Hereditary motor and sensory neuropathy 1B
• Hereditary motor and sensory neuropathy 1D
• Hereditary motor and sensory neuropathy 2 A
• Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)
• Hereditary motor and sensory neuropathy 2 C
• Hereditary motor and sensory neuropathy 3
• Hereditary motor and sensory neuropathy 5
• 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 5
• Hereditary motor and sensory neuropathy type III
• Hereditary motor and sensory neuropathy with agenesis of the corpus callosum
• Hereditary motor and sensory neuropathy, LOM type
• HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE
• Hereditary motor and sensory neuropathy, Russe type
• Hereditary motor and sensory neuropathy, X-linked
• Hereditary motor neuropathy, Jerash type
• Hereditary Motor Sensory Neuropathy I
• Hereditary mucoepithelial dysplasia
• Hereditary multiple benign cystic epithelioma
• Hereditary multiple diaphyseal sclerosis
• Hereditary multiple exostoses
• Hereditary multiple exostosis
• Hereditary multiple osteochondromas
• Hereditary multiple trichodiscomas
• Hereditary myoclonus and progressive distal muscular atrophy
• Hereditary myopathy with early respiratory failure
• Hereditary myosin myopathies - Another name for Myosinopathies
• Hereditary neuralgic amyotrophy
• Hereditary neurocutaneous Angioma
• Hereditary neuropathy with liability to pressure palsies
• Hereditary nodular heterotopia
• Hereditary nonpolyposis colorectal cancer- not a rare disease.
• Hereditary orotic aciduria
• Hereditary orotic aciduria without megaloblastic anemia
• Hereditary palmoplantar keratoderma with deafness (subtype)
• Hereditary pancreatic cancer
• Hereditary pancreatic carcinoma
• Hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease
• Hereditary pancreatitis
• Hereditary paraganglioma-pheochromocytoma
• Hereditary pheochromocytoma-paraganglioma
• Hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
• Hereditary polyposis coli
• Hereditary prepubertal gynecomastia
• Hereditary progressive dystonia with diurnal fluctuation
• Hereditary prosopagnosia
• Hereditary prostate cancer
• Hereditary proximal myopathy with early respiratory failure
• Hereditary pubertal genu valgum
• Hereditary pulmonary arterial hypertension
• Hereditary Pyropoikilocytosis
• Hereditary renal amyloidosis
• Hereditary renal cell carcinoma
• Hereditary renal disease and preauricular pits
• Hereditary resistance to activated protein C- not a rare disease.
• Hereditary resistance to anti-vitamin K
• Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
• Hereditary sensorimotor neuropathy with hyperelastic skin
• Hereditary sensory and autonomic neuropathy
• Hereditary sensory and autonomic neuropathy 3
• Hereditary sensory and autonomic neuropathy 4
• Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
• Hereditary sensory and autonomic neuropathy type 1
• Hereditary sensory and autonomic neuropathy type 1E
• Hereditary sensory and autonomic neuropathy type 2
• Hereditary sensory and autonomic neuropathy type 5
• Hereditary sensory and autonomic neuropathy type 7
• Hereditary sensory and autonomic neuropathy type V
• Hereditary sensory and autonomic neuropathy type VII
• Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
• Hereditary sensory and motor neuropathy type 4
• Hereditary sensory autonomic neuropathy
• Hereditary sensory neuropathy type 1
• Hereditary sensory neuropathy type 2
• Hereditary sensory neuropathy type 3
• Hereditary sensory neuropathy type IE
• Hereditary sensory neuropathy type IV
• Hereditary sensory neuropathy with hearing loss and dementia
• Hereditary sensory neuropathy-deafness-dementia syndrome
• Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
• Hereditary sensory radicular neuropathy, recessive form
• Hereditary spastic diplegia with mental retardation
• Hereditary spastic paraparesis
• Hereditary spastic paraplegia
• Hereditary spastic paraplegia 11
• Hereditary spastic paraplegia mental impairment and thin corpus callosum
• Hereditary spastic paraplegia Paraplegin type
• Hereditary spherocytosis
• Hereditary spinal ataxia
• Hereditary spinal sclerosis
• Hereditary symmetrical aplastic nevi of temples
• Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples
• Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
• Hereditary thrombophilia due to congenital antithrombin 3 deficiency
• Hereditary thrombophilia due to congenital antithrombin deficiency
• Hereditary thrombophilia due to congenital protein C deficiency
• Hereditary thrombophilia due to PC deficiency
• Hereditary thymine-uraciluria- not a rare disease.
• Hereditary thyroglossal duct cysts
• Hereditary vascular retinopathy
• Hereditary vertical nystagmus
• Hereditary von Willebrand disease- not a rare disease.
• Hereditary whispering dysphonia
• Hereditary white nails
• Hereditary woolly hair (autosomal dominant)
• Hereditary xerocytosis
• Heredopathia atactica polyneuritiformis
• Heredopathia ophthalmootoencephalica
• Heritable breast cancer- not a rare disease.
• Heritable hypertrophic cardiomyopathy
• Heritable pulmonary arterial hypertension
• Herlitz-Pearson type epidermolysis bullosa
• Hermansky Pudlak syndrome
• Hermansky Pudlak syndrome 2
• Hermansky-Pudlak syndrome
• Hermansky-Pudlak syndrome 2
• Hernández-Aguirre Negrete syndrome
• Hernia uteri inguinale
• HERNS
• Herpes B virus infection
• Herpes gestationis
• Herpes iris, erythema multiforme type
• Herpes simiae (B virus)
• Herpes simplex encephalitis
• Herpes simplex meningo-encephalitis
• Herpes simplex neuroinvasion
• Herpes simplex virus encephalitis
• Herpes virus antenatal infection
• Herpes zoster ophthalmicus
• Herpes zoster ophthalmicus (HZO)
• Herpes zoster oticus
• Herpesvirus simiae B virus infection
• Herpetic encephalitis
• Herrmann Opitz craniosynostosis
• Herrmann syndrome
• Hers disease
• Hersh Podruch Weisskopk syndrome
• HES
• Heterochromia iridis- not a rare disease.
• Heterotaxia
• Heterotaxy
• Heterotaxy syndrome
• Heterotaxy, visceral, 1, X-linked
• Heterotaxy, visceral, X-linked
• Heterotopia familial nodular
• Heterotopia periventricular X-linked dominant
• HexA deficiency
• Hexokinase deficiency hemolytic anemia
• Hexosaminidase A and B deficiency Disease
• Hexosaminidase A deficiency
• Hexosaminidase alpha-subunit deficiency (variant B)
• HFE3
• HFE4
• HFE-associated hereditary hemochromatosis- not a rare disease.
• HFG syndrome
• HFGS
• HFTC
• HFU syndrome
• HGE
• HGF1
• HGF2
• HGF3
• HGF4
• HGPPS
• HGPS
• HGSNAT deficiency
• HHC1
• HHC2
• HHC3
• HHF2
• HHF3
• HHF7
• HHH
• HHH syndrome
• HHHS
• HHS
• HHS
• HHT
• HHT2
• HHT3
• HHT4
• HHV-6 encephalitis
• HHV8
• Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
• HIBCH deficiency
• Hibernian fever, familial
• HIBM
• HIBM3
• HIBM-ERF
• Hiccups, intractable
• Hidradenitis suppurativa- not a rare disease.
• Hidradenocarcinoma
• Hidradenoma
• Hidrotic ectodermal dysplasia Halal type
• Hidrotic ectodermal dysplasia, autosomal dominant
• Hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers
• HIDS
• HIES
• HIES autosomal dominant
• HIES autosomal recessive
• High altitude cerebral edema
• High altitude pulmonary edema
• High altitude pulmonary hypertension
• High density lipoprotein deficiency
• High density lipoprotein deficiency, Tangier type
• High density lipoprotein deficiency, type 1
• High molecular weight kininogen deficiency
• High myopia-sensorineural deafness syndrome
• High red cell phosphatidylcholine hemolytic anemia
• High scapula
• High-grade pleomorphic peripheral T-cell lymphoma
• Highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses
• High-molecular-weight kininogen deficiency, congenital
• HIGM
• HIGM1
• HIGM2
• HIGM3
• HIGM4
• HIGM5
• Hinson-Pepys disease
• Hip dysplasia Beukes type
• Hip socket neuropathy
• Hip subluxation
• Hirata disease
• Hirayama disease
• Hirschsprung disease 1
• Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness
• Hirschsprung disease ganglioneuroblastoma
• Hirschsprung disease mental retardation syndrome
• Hirschsprung disease modifier
• Hirschsprung disease type 1
• Hirschsprung disease type 2
• Hirschsprung disease type 3
• Hirschsprung disease type d brachydactyly
• Hirschsprung disease with pigmentary anomaly
• Hirschsprung disease, deafness and polydactyly
• Hirschsprung nail hypoplasia dysmorphism
• Hirschsprung's disease
• Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features
• Hirsutism skeletal dysplasia mental retardation syndrome
• Hirsutism-skeletal dysplasia-intellectual disability syndrome
• His bundle tachycardia
• HIS deficiency
• Histidase deficiency
• Histidine ammonia-lyase deficiency
• Histidinemia
• Histidinuria renal tubular defect
• Histiocytic necrotising lymphadenitis
• Histiocytic necrotizing lymphadenitis
• Histiocytoid cardiomyopathy
• Histiocytosis with joint contractures and sensorineural deafness
• Histiocytosis X
• Histiocytosis, Non-Langerhans-Cell
• Histiocytosis, sea-blue
• Histiocytosis-lymphadenopathy plus syndrome
• HIT
• HIVEP2-related intellectual disability
• HJCD
• HJMD
• HLA class 1 deficiency
• HLD5
• HLD6
• HLH
• HLH2
• HLH3
• HLH4
• HLHS
• HLP
• HLRCC
• HLS
• HLTS
• HMBS deficiency
• HMC syndrome
• HMCS
• HME
• HMERF
• HMERF-ERF
• HMG CoA lyase deficiency
• HMG CoA synthetase deficiency
• HMG-CoA lyase deficiency
• HMN VI
• HMN6
• HMNJ
• HMO
• HMS
• HMSN
• HMSN - Another name for Hereditary motor and sensory neuropathy
• HMSN 1A
• HMSN 1B
• HMSN 1D
• HMSN 2 C
• HMSN 3
• HMSN 4
• HMSN 5
• HMSN I
• HMSN IIA
• HMSN III
• HMSN, X-linked
• HMSN/ACC
• HMSN1
• HMSN2 with giant axons
• HMSN3
• HMSNL
• HMSNO
• HMSNP
• HMSNR
• HMWK
• HND
• HNPCC- not a rare disease.
• HNPP
• HNRNPH2 deficiency
• HNSCC- not a rare disease.
• HNT
• Ho Kaufman Mcalister syndrome
• HOD
• Hodgkin disease
• Hodgkin disease, X-linked pseudoautosomal
• Hodgkin lymphoma
• Hodgkin's lymphoma
• Hoepffner dreyer reimers syndrome
• Hoepffner-Dreyer-Reimers syndrome - Another name for Lipodystrophy due to peptidic growth factors deficiency
• HOGA
• HOKPP
• Hollow visceral myopathy
• Holmes Collins syndrome
• Holmes-Adie syndrome
• Holoacardius amorphus
• Holocarboxylase synthetase deficiency
• Holoprosencephaly
• Holoprosencephaly craniosynostosis
• Holoprosencephaly ectrodactyly cleft lip palate
• Holoprosencephaly polydactyly syndrome
• Holoprosencephaly radial heart renal anomalies
• Holoprosencephaly with fetal akinesia/hypokinesia sequence
• Holoprosencephaly, recurrent infections, and monocytosis
• Holoprosencephaly-agnathia
• Holt-Oram syndrome
• Holzgreve syndrome
• HOMG1
• HOMG2
• Homocarnosinase deficiency
• Homocarnosinosis
• Homocysteinemia
• Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
• Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
• Homocystinuria
• Homocystinuria due to CBS deficiency
• Homocystinuria due to cystathionine beta-synthase deficiency
• Homocystinuria due to defect in methylation cbl e
• Homocystinuria due to defect in methylation cbl g
• Homocystinuria due to MTHFR deficiency
• HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED
• Homocystinuria-megaloblastic anemia, cblG complementation type
• Homogentisic acid oxidase deficiency
• Homogentisic acidura
• Homologous wasting disease
• Homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects
• Homozygous familial hypobetalipoproteinemia
• Honeycomb atrophy
• HOOE
• Hooft disease
• Hookworm infection
• Hordnes Engebretsen Knudtson syndrome
• Horizontal gaze palsy with progressive scoliosis
• Horn Kolb syndrome
• Horner's syndrome
• Hornova Dlushosova syndrome
• Hornstein-Knickenberg syndrome
• Horseshoe kidney- not a rare disease.
• Horton’s disease
• Horton’s syndrome
• Horton's arteritis
• Horton's giant cell arteritis
• Horton's temporal arteritis
• HOS
• HOS 1
• Houston-Harris achondrogenesis
• Howel-Evans syndrome
• Howell-Evans syndrome
• Hoyeraal Hreidarsson syndrome
• Hozay’s syndrome
• HP
• HP1
• HP2
• HPCHA
• HPD with diurnal fluctuation
• HPDR
• HPE
• HPLH2
• HPLH3
• HPLH4
• HPRT deficiency, complete
• HPS
• HPS
• HPS2
• HPT-JT
• HRD syndrome
• HRPT1
• HRPT2
• HRS
• HRZ
• HSAN
• HSAN 1
• HSAN 3
• HSAN 4
• HSAN due to TECPR2 mutation
• HSAN IV
• HSAN V
• HSAN with hyperhidrosis and gastrointestinal dysfunction
• HSAN1E
• HSAN2
• HSAN5
• HSAN7
• HSAS
• HSAS1
• HSCR
• HSCR 1
• HSCR3
• HSD 11b1 deficiency
• HSD10 deficiency
• HSD3B deficiency
• HSE
• HSES
• HSH
• HSN 3
• HSN1
• HSN1E
• HSNAN4
• HSNIE
• HSP
• HSRV infection
• HSS
• HSV encephalitis
• HSVE
• HTC 1
• HTC2
• HTLV-1
• HTLV-1 associated myelopathy/tropical spastic paraparesis
• HTLV-2
• HTLV-3
• HTNB
• HTX1
• Hughes syndrome
• Human babesiosis
• Human balantidiasis
• Human complement C8-beta deficiency
• Human cytochrome P450 2D6- not a rare disease.
• Human ehrlichial infection, human granulocytic type
• Human ehrlichial infection, human monocytic type
• Human Ehrlichial infection, Sennetsu type
• Human Ehrlichiosis
• Human granulocytic ehrlichiosis
• Human Herpesvirus 6 encephalitis
• Human herpesvirus 8
• Human HOXA1 syndromes
• Human monocytic ehrlichiosis
• Human parainfluenza virus type 3
• Human pythiosis
• Human spumaretroviridae infection
• Human spumaretrovirus infection
• Human T lymphotropic virus type 1
• Human T lymphotropic virus type 2
• Human T lymphotropic virus type 3
• Human T-cell leukemia virus type 1
• Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis
• Human T-cell leukemia virus type 2
• Human T-cell leukemia virus type 3
• Human trichinellosis
• Humeroperoneal neuromuscular disease, (formerly)
• Humeroradial synostosis
• Humero-radial synostosis
• Humeroradioulnar synostosis
• Hunt syndrome (formerly)
• Hunter Carpenter Macdonald syndrome
• Hunter Mcdonald syndrome
• Hunter syndrome
• Hunter Thompson Reed syndrome
• Hunter-mcalpine craniosynostosis
• Hunter-mcalpine craniosynostosis syndrome
• Hunter-McAlpine syndrome
• Hunter-Thompson-Reed syndrome
• Huntington disease
• Huntington disease, juvenile onset
• Huntington's chorea
• Huntington's disease
• Hunt's syndrome (formerly)
• Huriez syndrome
• Hurler disease
• Hurler syndrome
• Hurler syndrome (subtype)
• Hurler-Scheie syndrome
• Hurler–Scheie syndrome
• Hurler-Scheie syndrome (subtype)
• Hurthle cell carcinoma of the thyroid
• Hurthle cell thyroid cancer
• HUS
• HUS, atypical
• Hutchinson Gilford progeria syndrome
• Hutchinson Gilford syndrome
• Hutchinson incisors
• Hutchison melanotic freckle
• Hutterite cerebroosteonephrodysplasia syndrome
• HV
• HVDAS
• HVR
• Hyaline body myopathy
• Hyaline fibromatosis syndrome
• Hyaline membrane disease
• Hyalinosis cutis et mucosae
• Hyaloideoretinal degeneration of Wagner
• Hybrid acute leukemia
• HYCX
• Hydatid mole
• Hydatidiform mole
• Hydatidosis
• Hyde Forster Mccarthy Berry syndrome
• HYDM
• Hydranencephaly
• Hydranencephaly and microcephaly
• Hydranencephaly with abnormal genitalia
• Hydroa vacciniforme
• Hydroa vacciniforme, familial
• Hydroanencephaly
• Hydrocepalus with associated malformations
• Hydrocephalus
• Hydrocephalus autosomal recessive
• Hydrocephalus blue sclera nephropathy
• Hydrocephalus cataract microphthalmos
• Hydrocephalus due to congenital stenosis of aqueduct of sylvius
• Hydrocephalus obesity hypogonadism
• Hydrocephalus skeletal anomalies
• Hydrocephalus with associated malformations
• Hydrocephalus with cerebellar agenesis
• Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies
• Hydrocephalus, agyria and retinal dysplasia
• Hydrocephalus, cardiac malformation, dense bones, etc
• Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
• Hydrocephalus, endocardial fibroelastosis, and cataracts
• Hydrocephalus, skeletal anomalies, and mental disturbance
• Hydrocephalus, tall stature, joint laxity and kyphoscoliosis
• Hydrocephalus, X-linked
• Hydrocephalus-cleft palate-joint contractures syndrome
• Hydrocephaly
• Hydrocephaly - low insertion umbilicus
• Hydrocephaly - tall stature - joint laxity
• Hydrolethalus syndrome
• Hydrometrocolpos syndrome
• Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
• Hydronephrosis due to PUJO
• Hydronephrosis with peculiar facial expression
• Hydrops fetalis
• Hydrops fetalis nonimmune
• Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
• Hydrops, ectrodactyly, syndactyly, duplication of the great toes
• Hydrops-ectopic calcification-motheaten syndrome
• Hydroxyacyl-CoA dehydrogenase II deficiency
• Hydroxycarboxylic aciduria
• Hydroxykynureninuria
• Hydroxymethylbilane synthase deficiency
• Hydroxymethylglutaric aciduria
• Hydroxyprolinemia
• Hygroma cervical
• Hygroma cervicis
• Hymenolepiasis
• Hymenolepsis infection
• Hyper Ig E syndrome, autosomal dominant
• Hyper Ig E syndrome, autosomal recessive
• Hyper IgD syndrome
• Hyper IgE syndrome
• Hyper IgM immunodeficiency, x-linked
• Hyper IgM syndrome
• Hyper IgM syndrome 1
• Hyper IgM syndrome 2
• Hyper IgM syndrome 3
• Hyper IgM syndrome 4
• Hyper IgM syndrome 5
• Hyperacusis
• Hyperadrenalism
• Hyperadrenocorticism
• Hyperalaninemia
• Hyperaldosteronism, familial type 1
• Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
• Hyperammonemia due to carbonic anhydrase VA deficiency
• Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency
• Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome- not a rare disease.
• Hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN)- not a rare disease.
• Hyperargininemia
• Hyperbetaalaninemia
• Hyper-beta-alaninemia
• Hyperbilirubinemia 2
• Hyperbilirubinemia Arias type- not a rare disease.
• Hyperbilirubinemia transient familial neonatal
• Hyperbilirubinemia type 1- not a rare disease.
• Hyperbilirubinemia type 2
• Hyperbilirubinemia, Rotor type
• Hyperbilirubinemic encephalopathy
• Hypercalcemia, familial benign type 1
• Hypercalcemia, familial benign type 2
• Hypercalcemia, familial benign, Oklahoma type
• Hypercalcemia, familial benign, type 3
• Hypercalcemia, familial, with nephrocalcinosis and indicanuria
• Hypercalcemic nephropathy
• Hypercalcinuria macular coloboma
• Hypercementosis
• Hyperchylomicronemia late onset
• Hyperchylomicronemia with hyperprebetalipoproteinemia, familial
• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Hypercontractile esophagus
• Hypercortisolism
• Hyperdactyly
• Hypereosinophilic syndrome
• Hypereosinophilic syndrome, idiopathic
• Hyperexplexia hereditary
• Hyperferritinemia cataract syndrome
• Hyperfibrinolysis due to PAI1 deficiency
• Hypergastrinemic, hyperpepsinogenemic duodenal ulcer
• Hyperglycerolemia
• Hyperglycinemia nonketotic
• Hyperglycinemia with ketoacidosis and leukopenia
• Hypergonadotropic ovarian failure, familial or sporadic
• Hyperhidrosis gustatory
• Hyper-IgD syndrome
• Hyper-IgE recurrent infection syndrome
• Hyper-IgG4 disease
• Hyperimidodipeptiduria
• Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant
• Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
• Hyperimmunoglobulin E syndrome
• Hyperimmunoglobulinemia D and periodic fever syndrome
• Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
• Hyperinsulinemic hypoglycemia exercise-induced
• Hyperinsulinemic hypoglycemia familial
• Hyperinsulinemic hypoglycemia familial 2
• Hyperinsulinemic hypoglycemia familial 3
• Hyperinsulinemic hypoglycemia familial 6
• Hyperinsulinemic hypoglycemia familial 7
• Hyperinsulinism congenital
• Hyperinsulinism due to glucokinase deficiency
• Hyperinsulinism due to glutamodehydrogenase deficiency
• Hyperinsulinism familial with pancreatic nesidioblastosis
• Hyperinsulinism hyperammonemia syndrome
• Hyperinsulinism, diffuse
• Hyperinsulinism-hyperammonemia syndrome
• Hyperkalemic periodic paralysis
• Hyperkeratosis follicularis et parafollicularis in cutem penetrans
• Hyperkeratosis lenticularis perstans
• Hyperkeratosis lenticularis perstans of Flegel
• Hyperkeratosis palmoplantar localized epidermolytic
• Hyperkeratosis palmoplantaris with periodontosis
• Hyperkeratosis-contracture syndrome
• Hyperlipemia combined fat and carbohydrate-induced
• Hyperlipemia mixed
• 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
• Hyperlipidemia type V
• Hyperlipoproteinemia type 3
• Hyperlipoproteinemia type 4
• Hyperlipoproteinemia type 5
• Hyperlipoproteinemia type IIA- not a rare disease.
• Hyperlipoproteinemia type III
• Hyperlipoproteinemia type V
• Hyperlipoproteinemia, type 2 A- not a rare disease.
• Hyperlipoproteinemia, type Ib
• HYPERLIPOPROTEINEMIA, TYPE II- not a rare disease.
• Hyper-low density-lipoproteinemia- not a rare disease.
• Hyperlysinemia
• Hypermanganesemia with dystonia polycythemia and cirrhosis
• Hypermethioninemia due to glycine N-methyltransferase deficiency
• Hypermethioninemia due to GNMT deficiency
• Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
• Hypermobile EDS
• Hypermobile Ehlers-Danlos syndrome
• Hypernychthemeral syndrome
• Hyperornithinemia
• Hyperornithinemia with gyrate atrophy of choroid and retina
• Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
• Hyperostosid corticalis deformans juvenilis
• Hyperostosis corticalis deformans juvenilis
• Hyperostosis corticalis generalisata
• Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus
• Hyperostosis frontalis interna, obesity, shortness and cognitive impairment
• Hyperostosis generalisata with striations
• Hyperostosis with hyperphosphatemia
• Hyperostosis-hyperphosphatemia syndrome
• Hyperostotic dwarfism Lenz-Majewski type
• Hyperparathyroidism 1
• Hyperparathyroidism 2
• Hyperparathyroidism, familial isolated primary
• Hyperparathyroidism, primary
• Hyperparathyroidism-jaw tumor syndrome
• Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
• Hyperphenylalanemia, BH4-deficient, A
• Hyperphenylalaninemia caused by a defect in biopterin metabolism
• Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency
• Hyperphenylalaninemia due to BH4 deficiency
• Hyperphenylalaninemia due to dehydratase deficiency
• Hyperphenylalaninemia due to dihydropteridine reductase deficiency
• Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
• Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
• Hyperphenylalaninemia with Primapterinuria
• Hyperphenylalaninemia, BH4-Deficient, B
• Hyperphenylalaninemia, BH-4-deficient, C
• Hyperphenylalaninemia, BH4-deficient, D
• Hyperphenylalaninemia, non-phenylketonuric
• Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency
• Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency
• Hyperphenylalaninemic embryopathy
• Hyperphosphatasemia tarda
• Hyperphosphatasemia, chronic congenital idiopathic
• Hyperphosphatasia, familial idiopathic
• Hyperphosphatemic familial tumoral calcinosis
• Hyperpotassemia and hypertension familial
• Hyperprolactinaemia
• Hyperprolinemia
• Hyperprolinemia type 1
• Hyperprolinemia type 2
• Hyperprolinemia type 2
• Hyperprostaglandin E syndrome 1
• Hyperprostaglandin E syndrome 2
• Hyperprothrombinemia
• Hyperpyrexia malignant
• Hyperpyrexia, malignant
• Hypersarcosinemia
• Hypersecretion of adrenal androgens, familial
• Hypersensitivity angiitis
• Hypersensitivity pneumonitis
• Hypersensitivity pneumonitis
• Hypersensitivity vasculitis
• Hypertelorism and tetralogy of Fallot
• Hypertelorism hypospadias polysyndactyly syndrome
• Hypertelorism hypospadias syndrome
• Hypertelorism microtia facial clefting syndrome
• Hypertelorism with esophageal abnormality and hypospadias
• Hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies
• Hypertelorism, short midface, arachnodactyly, coloboma of Iris and delayed bone age
• Hypertelorism, Teebi type
• Hypertension, Portal- not a rare disease.
• Hyperthermia induced defects
• Hyperthermia of anesthesia
• Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport
• Hypertrichosis atrophic skin ectropion macrostomia
• Hypertrichosis congenital generalized X-linked
• Hypertrichosis cubiti
• Hypertrichosis lanuginosa congenita
• Hypertrichosis lanuginosa congenita
• Hypertrichosis lanuginosa universalis
• Hypertrichosis lanuginosa, acquired
• Hypertrichosis terminalis, generalized, with gingival hyperplasia
• Hypertrichosis universalis
• Hypertrichosis universalis
• Hypertrichosis universalis congenita Ambras type
• Hypertrichosis, atrophic skin, ectropion, and macrostomia
• Hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
• Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
• Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
• Hypertrichotic osteochondrodysplasia
• Hypertrophic branchial myopathy
• Hypertrophic gastropathy
• Hypertrophic neuropathy of Dejerine-Sottas
• Hypertrophic neuropathy of infancy
• Hypertrophic neuropathy of Refsum
• Hypertrophic olivary degeneration
• Hypertrophy and asymmetry of the facial muscles
• Hypertryptophanemia
• Hyperuricemic nephropathy, familial juvenile 2
• Hyperuricemic nephropathy, familial juvenile, atypical
• Hypervalinemia
• Hypnic headache
• Hypoadrenalism
• Hypoadrenocorticism familial
• Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis
• Hypoaldosteronism
• Hypoalphalipoproteinemia, familial
• Hypoalphalipoproteinemia, primary
• Hypoascorbemia
• Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells
• Hypobetalipoproteinemia, familial
• Hypocalcemia, autosomal dominant
• Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis
• Hypocalciuric hypercalcemia, familial, type 1
• Hypocalciuric hypercalcemia, familial, type 2
• Hypocalciuric hypercalcemia, familial, type 3
• Hypoceruloplasminemia
• Hypochondroplasia
• Hypochromic microcytic anemia with iron overload
• Hypocomplementemic urticarial vasculitis
• Hypodermitis sclerodermaformis
• Hypodermyasis
• Hypodontia - dysplasia of nails
• Hypodontia, X-linked
• Hypofibrinogenemia, familial
• Hypogammaglobulinemia and isolated growth hormone deficiency, x-linked
• Hypogamma-globulinemia, acquired
• Hypoganglionosis
• Hypoglossia-hypodactylia syndrome
• Hypoglycemia hyperinsulinemic of infancy
• Hypoglycemia leucine induced
• Hypoglycemia leucine-induced
• Hypoglycemia with deficiency of glycogen synthetase in the liver
• Hypogonadism and frontoparietal alopecia
• Hypogonadism cataract syndrome
• Hypogonadism primary partial alopecia
• Hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities
• Hypogonadism, isolated, hypogonadotropic
• Hypogonadotropic hypogonadism alopecia
• Hypogonadotropic hypogonadism and anosmia
• Hypogonadotropic hypogonadism-anosmia syndrome
• Hypohidrotic ectodermal dysplasia
• Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
• Hypohidrotic ectodermal dysplasia autosomal dominant
• Hypohidrotic ectodermal dysplasia autosomal recessive
• Hypohidrotic ectodermal dysplasia with hypothyroidism
• Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
• Hypohidrotic ectodermal dysplasia with immune deficiency
• Hypohidrotic ectodermal dysplasia X-linked
• Hypokalemic alkalosis with hypercalciuria
• Hypokalemic alkalosis with hypercalciuria antenatal 1
• Hypokalemic alkalosis with hypercalciuria antenatal 2
• Hypokalemic periodic paralysis
• Hypokinetic dilated cardiomyopathy, familial
• Hypolipoproteinemia
• Hypomagnesemia caused by selective magnesium malabsorption
• Hypomagnesemia intestinal type 1
• Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
• Hypomagnesemic tetany
• Hypomandibular faciocranial dysostosis
• Hypomelanosis of Ito
• Hypomelanosis with no immunologic or neurologic manifestations
• Hypomelanotic disorder
• Hypomelia hypotrichosis facial hemangioma syndrome
• Hypomelia mullerian duct anomalies
• Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
• Hypomyelination - congenital cataract
• Hypomyelination and congenital cataract
• Hypomyelination with atrophy of basal ganglia and cerebellum
• Hypomyelination, severe congenital
• Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
• Hypoparathyroidism
• Hypoparathyroidism familial isolated
• Hypoparathyroidism lymphedema syndrome
• Hypoparathyroidism with short stature, intellectual disability and seizures
• Hypoparathyroidism X-linked
• Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
• Hypoparathyroidism, idiopathic (subtype)
• Hypoparathyroidism, sensorineural deafness, and renal dysplasia
• Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
• Hypopharyngeal cancer
• Hypophophatemia, X-linked
• Hypophophatemic vitamin D-resistant rickets
• Hypophosphatasia
• Hypophosphatasia mild
• Hypophosphatemic rickets
• Hypophosphatemic rickets, X-linked dominant
• Hypopigmentation
• Hypopigmentation oculocerebral syndrome Cross type
• Hypopigmentation/deafness of Tietz
• Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
• Hypopituitarism
• Hypopituitarism and septooptic 'dysplasia'
• Hypoplasia of the right ventricle
• Hypoplasia of the tibia with polydactyly
• Hypoplasia of ulna and fibula
• Hypoplasminogenemia
• Hypoplastic left heart syndrome
• Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
• Hypoplastic pulmonary arteries and aorta with obstructive uropathy
• Hypoplastic right heart syndrome
• Hypoplastic right-sided heart complex
• Hypoplastic thumb mullerian aplasia
• HypoPP
• Hypoproconvertinemia
• Hypoprothrombinemia, inherited
• Hypospadias familial
• Hypospadias intellectual deficit Goldblatt type
• Hypospadias mental retardation syndrome (formerly)
• Hypospadias-dysphagia, syndrome
• Hypospadias-intellectual disability, Goldblatt type syndrome
• Hypotelorism cleft palate hypospadias
• Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
• Hypothalamic hamartomas
• Hypothalamic obesity
• Hypothyroidism cleft palate Hypothyroidism, athyroidal, with spiky hair and cleft palate
• Hypothyroidism due to iodide transport defect
• Hypotonia and ichthyosis due to dolichol phosphate deficiency
• Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
• Hypotonia, obesity, and prominent incisors
• Hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion
• Hypotrichosis associated with congenital hypoplasia of the thumb
• Hypotrichosis lymphedema telangiectasia syndrome
• Hypotrichosis simplex
• Hypotrichosis, congenital, with juvenile macular dystrophy
• Hypotrichosis, Marie Unna type
• Hypotrichosis-lymphedema-telangiectasia syndrome
• Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
• Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
• Hypouricemia, renal
• Hypovitaminosis D
• Hypoxanthine guanine phosphoribosyltransferase deficiency
• Hypoxanthine-guanine phosphoribosyltransferase deficiency
• Hypoxia neonatorum
• HYPP
• HZO

NIH genetic and rare disease info

• NIH info on List of rare diseases-H

List of rare diseases-H is a rare disease.