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Rare conditions starting with H
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432 conditions starting with H
- H syndrome
- Haddad syndrome
- HAE (C1-INH)
- Haim-Munk syndrome
- Hairy cell leukemia
- Hajdu-Cheney syndrome
- Hall-Riggs syndrome
- Hallermann-Streiff syndrome
- Hallux varus-preaxial polysyndactyly syndrome
- Hand-foot-genital syndrome
- Hantavirus pulmonary syndrome
- Harel-Yoon syndrome
- Harlequin syndrome
- Harrod syndrome
- Hartsfield-Bixler-Demyer syndrome
- Hashimoto-Pritzker syndrome
- Hawkinsinuria
- Hb SS disease
- Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- Heart defect - tongue hamartoma - polysyndactyly syndrome
- Heart defects-limb shortening syndrome
- Heart-hand syndrome type 2
- Heart-hand syndrome type 3
- Heart-hand syndrome, Slovenian type
- HEC syndrome
- Hecht syndrome
- hEDS
- Heinz body anemia
- Helicoid peripapillary chorioretinal degeneration
- HELIX syndrome
- HELLP syndrome
- Hemangioblastoma
- Hemangiopericytoma, malignant
- Hematohidrosis
- Heme oxygenase 1 deficiency
- Hemicrania continua
- Hemifacial hypertrophy
- Hemifacial myohyperplasia
- Hemihyperplasia-multiple lipomatosis syndrome
- Hemihypertrophy of lower limb
- Hemimegalencephaly
- Hemiparkinsonism-hemiatrophy syndrome
- Hemochromatosis type 3
- Hemochromatosis type 4
- Hemochromatosis type 5
- Hemoglobin C-beta-thalassemia syndrome
- Hemoglobin D disease
- Hemoglobin E disease
- Hemoglobin E/beta thalassemia disease
- Hemoglobin Lepore-beta-thalassemia syndrome
- Hemoglobin M disease
- Hemoglobinopathy Toms River
- Hemolytic anemia due to adenylate kinase deficiency
- Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- Hemolytic anemia due to glucophosphate isomerase deficiency
- Hemolytic anemia due to hexokinase deficiency
- Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- Hemolytic-uremic syndrome
- Hemophilia
- Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
- Hemorrhagic fever-renal syndrome
- Hendra virus infection
- Hennekam lymphangiectasia-lymphedema syndrome
- Hennekam-Beemer syndrome
- Heparin-induced thrombocytopenia
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Hepatic methionine adenosyltransferase deficiency
- Hepatic veno-occlusive disease
- Hepatic veno-occlusive disease-immunodeficiency syndrome
- Hepatitis D virus infection
- Hepatoblastoma
- Hepatocellular carcinoma
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- Hepatoerythropoietic porphyria
- Hereditary acrodermatitis enteropathica
- Hereditary acrokeratotic poikiloderma, Weary type
- Hereditary amyloidosis
- Hereditary angioneurotic edema
- Hereditary antithrombin deficiency
- Hereditary arginine vasopressin deficiency
- Hereditary arterial and articular multiple calcification syndrome
- Hereditary ataxia
- Hereditary benign intraepithelial dyskeratosis
- Hereditary breast ovarian cancer syndrome
- Hereditary cavernous hemangioma of brain
- Hereditary cerebral hemorrhage with amyloidosis
- Hereditary clear cell renal cell carcinoma
- Hereditary continuous muscle fiber activity
- Hereditary coproporphyria
- Hereditary cryohydrocytosis with reduced stomatin
- Hereditary diffuse gastric adenocarcinoma
- Hereditary elliptocytosis
- Hereditary factor I deficiency disease
- Hereditary factor IX deficiency disease
- Hereditary factor VIII deficiency disease
- Hereditary factor X deficiency disease
- Hereditary factor XI deficiency disease
- Hereditary factor XIII deficiency disease
- Hereditary fructosuria
- Hereditary geniospasm
- Hereditary gingival fibromatosis
- Hereditary glaucoma
- Hereditary hemochromatosis
- Hereditary hemorrhagic telangiectasia
- Hereditary hemorrhagic telangiectasia type 3
- Hereditary hemorrhagic telangiectasia type 4
- Hereditary hollow viscus myopathy
- Hereditary hyperekplexia
- Hereditary hyperferritinemia with congenital cataracts
- Hereditary hypophosphatemic rickets
- Hereditary hypotrichosis with recurrent skin vesicles
- Hereditary inclusion body myopathy type 4
- Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
- Hereditary insensitivity to pain with anhidrosis
- Hereditary intrinsic factor deficiency
- Hereditary leiomyomatosis and renal cell cancer
- Hereditary liability to pressure palsies
- Hereditary lymphedema type I
- Hereditary methemoglobinemia
- Hereditary mixed polyposis syndrome
- Hereditary motor and sensory neuropathy with acrodystrophy
- Hereditary motor and sensory neuropathy with optic atrophy
- Hereditary motor and sensory neuropathy, Okinawa type
- Hereditary mucoepithelial dysplasia
- Hereditary myopathy with lactic acidosis due to ISCU deficiency
- Hereditary neurocutaneous angiomata
- Hereditary neuroendocrine tumor of small intestine
- Hereditary neutrophilia
- Hereditary orotic aciduria
- Hereditary painful callosities
- Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
- Hereditary pancreatitis
- Hereditary papillary renal cell carcinoma
- 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 and paraganglioma
- Hereditary pulmonary alveolar proteinosis
- Hereditary recurrent myoglobinuria
- Hereditary sclerosing poikiloderma
- Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
- Hereditary sensorimotor neuropathy with hyperelastic skin
- Hereditary sensory and autonomic neuropathy
- Hereditary sensory and autonomic neuropathy type 1
- Hereditary sensory and autonomic neuropathy type 1B
- Hereditary sensory and autonomic neuropathy type 2
- Hereditary sensory and autonomic neuropathy type 7
- Hereditary sensory and autonomic neuropathy with deafness and global delay
- Hereditary sensory and autonomic neuropathy with spastic paraplegia
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Hereditary site-specific ovarian cancer syndrome
- Hereditary spastic paraplegia
- Hereditary spastic paraplegia 10
- Hereditary spastic paraplegia 11
- Hereditary spastic paraplegia 12
- Hereditary spastic paraplegia 13
- Hereditary spastic paraplegia 14
- Hereditary spastic paraplegia 15
- Hereditary spastic paraplegia 16
- Hereditary spastic paraplegia 17
- Hereditary spastic paraplegia 18
- Hereditary spastic paraplegia 19
- Hereditary spastic paraplegia 2
- Hereditary spastic paraplegia 23
- Hereditary spastic paraplegia 24
- Hereditary spastic paraplegia 25
- Hereditary spastic paraplegia 26
- Hereditary spastic paraplegia 27
- Hereditary spastic paraplegia 28
- Hereditary spastic paraplegia 29
- Hereditary spastic paraplegia 30
- Hereditary spastic paraplegia 31
- Hereditary spastic paraplegia 32
- Hereditary spastic paraplegia 34
- Hereditary spastic paraplegia 35
- Hereditary spastic paraplegia 36
- Hereditary spastic paraplegia 37
- Hereditary spastic paraplegia 38
- Hereditary spastic paraplegia 39
- Hereditary spastic paraplegia 3A
- Hereditary spastic paraplegia 4
- Hereditary spastic paraplegia 41
- Hereditary spastic paraplegia 42
- Hereditary spastic paraplegia 43
- Hereditary spastic paraplegia 44
- Hereditary spastic paraplegia 45
- Hereditary spastic paraplegia 46
- Hereditary spastic paraplegia 48
- Hereditary spastic paraplegia 49
- Hereditary spastic paraplegia 51
- Hereditary spastic paraplegia 53
- Hereditary spastic paraplegia 54
- Hereditary spastic paraplegia 55
- Hereditary spastic paraplegia 56
- Hereditary spastic paraplegia 57
- Hereditary spastic paraplegia 5A
- Hereditary spastic paraplegia 6
- Hereditary spastic paraplegia 61
- Hereditary spastic paraplegia 62
- Hereditary spastic paraplegia 63
- Hereditary spastic paraplegia 64
- Hereditary spastic paraplegia 7
- Hereditary spastic paraplegia 72
- Hereditary spastic paraplegia 73
- Hereditary spastic paraplegia 74
- Hereditary spastic paraplegia 75
- Hereditary spastic paraplegia 77
- Hereditary spastic paraplegia 8
- Hereditary spastic paraplegia 9A
- Hereditary spherocytosis
- Hereditary spherocytosis type 5
- Hereditary thermosensitive neuropathy
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Hereditary thrombocytosis with transverse limb defect
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
- Hereditary thrombophilia due to congenital protein C deficiency
- Hereditary thrombophilia due to congenital protein S deficiency
- Hereditary xanthinuria
- Hereditary xanthinuria type 1
- Heritable pulmonary arterial hypertension
- Hermansky-Pudlak syndrome
- Hernández-Aguirre Negrete syndrome
- Herpes gestationis
- Herpes simplex encephalitis
- Heterotopia, periventricular, X-linked dominant
- Hidrotic ectodermal dysplasia syndrome
- Hidrotic ectodermal dysplasia, Christianson-Fourie type
- Hidrotic ectodermal dysplasia, Halal type
- High bone mass osteogenesis imperfecta
- High molecular weight kininogen deficiency
- High myopia-sensorineural deafness syndrome
- Hip dysplasia, Beukes type
- Hirschsprung disease-ganglioneuroblastoma syndrome
- Hirschsprung disease-hearing loss-polydactyly syndrome
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
- Hirschsprung disease-type D brachydactyly syndrome
- Hirsutism-skeletal dysplasia-intellectual disability syndrome
- Histidine transport defect
- Histidinemia
- Histiocytic medullary reticulosis
- Histiocytoid cardiomyopathy
- Histoplasmosis
- HNSHA due to aldolase A deficiency
- Hodgkins lymphoma
- Holmes-Adie syndrome
- Holoacardius amorphus
- Holocarboxylase synthetase deficiency
- Holoprosencephaly sequence
- Holoprosencephaly-craniosynostosis syndrome
- Holoprosencephaly-hypokinesia-congenital contractures syndrome
- Holoprosencephaly-postaxial polydactyly syndrome
- Holoprosencephaly-radial heart renal anomalies syndrome
- Holt-Oram syndrome
- Holzgreve-Wagner-Rehder syndrome
- Homocarnosinosis
- Homocystinuria
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Homocystinuria without methylmalonic aciduria
- Homozygous familial hypercholesterolemia
- Hordnes Engebretsen Knudtson syndrome
- Horizontal gaze palsy with progressive scoliosis
- Hot water reflex epilepsy
- Houge-janssens syndrome 1
- Houge-Janssens syndrome 2
- Hoyeraal-Hreidarsson syndrome
- HSD10 mitochondrial disease
- HTLV-1-associated myelopathy-tropical spastic paraparesis
- HTLV-2 infection
- HTRA1-related autosomal dominant cerebral small vessel disease
- Human African trypanosomiasis
- Human granulocytic anaplasmosis
- Human HOXA1 syndromes
- Human infection by orthopoxvirus
- Human monocytic ehrlichiosis
- Human T-lymphotropic virus 1 infectious disease
- Humeral agenesis/hypoplasia
- Humero-radio-ulnar synostosis
- Humeroradial synostosis
- Humeroulnar synostosis
- Humerus trochlea aplasia
- Hunter-McAlpine craniosynostosis
- Huntington disease
- Huntington disease-like 1
- Huntington disease-like 2
- Huntington disease-like 3
- Huntington disease-like syndrome
- Huntington disease-like syndrome due to C9ORF72 expansions
- Huppke-Brendel syndrome
- Hurler syndrome
- Hurthle cell carcinoma of thyroid
- Hutchinson-Gilford syndrome
- Hyaline body myopathy
- Hyaline fibromatosis syndrome
- Hydatidiform mole
- Hydranencephaly
- Hydroa vacciniforme
- Hydroa vacciniforme, familial
- Hydrocephalus-blue sclerae-nephropathy syndrome
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- Hydrocephalus-obesity-hypogonadism syndrome
- Hydrocephaly-cerebellar agenesis syndrome
- Hydrocephaly-tall stature-joint laxity syndrome
- Hydrolethalus syndrome
- Hydrops fetalis
- Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
- Hydroxykynureninuria
- Hymenolepiasis
- Hyper-beta-alaninemia
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- Hyper-IgE syndrome
- 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
- Hyperammonemia, type III
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- Hyperbiliverdinemia
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- Hyperdibasic aminoaciduria type 1
- Hypereosinophilic syndrome
- Hypergonadotropic hypogonadism-cataract syndrome
- Hyperhidrosis, premature cavities and premolar aplasia
- Hyperhomocysteinemia
- Hyperimmunoglobulin D with periodic fever
- Hyperinsulinemic hypoglycemia, familial, 2
- Hyperinsulinemic hypoglycemia, familial, 4
- Hyperinsulinism due to glucokinase deficiency
- Hyperinsulinism due to HNF1A deficiency
- Hyperinsulinism due to HNF4A deficiency
- Hyperinsulinism due to INSR deficiency
- Hyperinsulinism due to UCP2 deficiency
- Hyperinsulinism-hyperammonemia syndrome
- Hyperkalemic periodic paralysis
- Hyperkeratosis lenticularis perstans
- Hyperkeratosis-hyperpigmentation syndrome
- Hyperlipidemia due to hepatic triglyceride lipase deficiency
- Hyperlipoproteinemia, type I
- Hyperlysinemia
- Hypermanganesemia with dystonia
- Hypermanganesemia with dystonia 2
- Hypermanganesemia with dystonia, polycythemia, and cirrhosis
- Hypermethioninemia
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Hyperostosis cranialis interna
- Hyperostosis interna frontalis
- Hyperparathyroidism 2 with jaw tumors
- Hyperphalangy
- Hyperphenylalaninemia due to DNAJC12 deficiency
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
- Hyperphosphatasemia tarda
- Hyperphosphatasemia with bone disease
- Hyperphosphatasia-intellectual disability syndrome
- Hyperplastic polyposis syndrome
- Hyperprolinemia
- Hyperprolinemia type 2
- Hypersensitivity pneumonitis
- Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
- Hypertelorism, microtia, facial clefting syndrome
- Hypertrichosis cubiti-short stature syndrome
- Hypertrichosis lanuginosa congenita
- Hypertrichotic osteochondrodysplasia Cantu type
- Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
- Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
- Hyperzincemia and hypercalprotectinemia
- Hypnic headache
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- Hypochondroplasia
- Hypocomplementemic urticarial vasculitis
- Hypodermyiasis
- Hypogonadism with anosmia
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Hypogonadotropic hypogonadism 1 with or without anosmia
- Hypogonadotropic hypogonadism 12 with or without anosmia
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Hypogonadotropic hypogonadism 24 without anosmia
- Hypogonadotropic hypogonadism 3 with or without anosmia
- Hypogonadotropic hypogonadism 4 with or without anosmia
- Hypogonadotropic hypogonadism 5 with or without anosmia
- Hypogonadotropic hypogonadism 6 with or without anosmia
- Hypogonadotropic hypogonadism 7 with or without anosmia
- Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- Hypohidrotic ectodermal dysplasia
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- Hypohidrotic X-linked ectodermal dysplasia
- Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Hypokalemic periodic paralysis
- Hypolipoproteinemia
- Hypomandibular faciocranial dysostosis
- Hypomyelinating leukodystrophy 10
- Hypomyelinating leukodystrophy 12
- Hypomyelinating leukodystrophy 2
- Hypomyelinating leukodystrophy 3
- Hypomyelinating leukodystrophy 6
- Hypomyelinating leukodystrophy 9
- Hypomyelination and Congenital Cataract
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity
- Hypoparathyroidism
- Hypoparathyroidism, deafness, renal disease syndrome
- Hypopharynx cancer
- Hypophosphatasia
- Hypopigmentation-punctate palmoplantar keratoderma syndrome
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome
- Hypoplastic left heart syndrome
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
- Hypoplastic right heart syndrome
- Hypospadias-intellectual disability, Goldblatt type syndrome
- Hypothalamic hamartomas with gelastic seizures
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Hypothyroidism due to iodide transport defect
- Hypothyroidism due to TSH receptor mutations
- Hypothyroidism, congenital, nongoitrous, 7
- Hypotonia with lactic acidemia and hyperammonemia
- Hypotonia-failure to thrive-microcephaly syndrome
- Hypotonia, infantile, with psychomotor retardation and characteristic facies
- Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- Hypotrichosis 7
- Hypotrichosis simplex
- Hypotrichosis simplex of the scalp
- Hypotrichosis-deafness syndrome
- Hypotrichosis-intellectual disability, Lopes type
- Hypotrichosis-lymphedema-telangiectasia syndrome
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
- Hypoxanthine-guanine phosphoribosyltransferase deficiency
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