Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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hypermethioninemia |
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An amino acid metabolic disorder that involves an ..[+]
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hereditary sensory neuropathy |
hereditary sensory and autonomic neuropathy; conge..
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A neuropathy characterized by congenital insensiti..[+]
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hereditary lymphedema |
Milroy's disease; Nonne-Milroy lymphedema
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A lymphedema commonly located_in legs, caused_by c..[+]
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hypochromic microcytic anemia |
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A microcytic anemia characterized by paler than no..[+]
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hydrolethalus syndrome |
Salonen-Herva-Norio syndrome
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A syndrome characterized by mulitple fetal develop..[+]
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hemidystonia |
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A multifocal dystonia that involves the arm and le..[+]
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hemorrhagic cystitis |
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A cystitis that is characterized by dysuria, hemat..[+]
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hepatocellular adenoma |
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n_a
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hereditary hypophosphatemic rickets with hypercalciuria |
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A rickets that has_material_basis_in increased ser..[+]
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hereditary ataxia |
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A neurodegenerative disease that is characterized ..[+]
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hypomyelinating leukoencephalopathy |
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An autosomal dominant cerebellar ataxia that is ch..[+]
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hypersensitivity reaction disease |
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An immune system disease that has material basis i..[+]
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Her2-receptor positive breast cancer |
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n_a
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Her2-receptor negative breast cancer |
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n_a
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heavy chain disease |
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A hypersensitivity reaction type IV disease that r..[+]
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histidinemia |
histidinuria
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A histidine metabolism disease that involves a def..[+]
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homocarnosinosis |
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A gamma-amino butyric acid metabolism disorder tha..[+]
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hypoparathyroidism-retardation-dysmorphism syndrome |
hypoparathyroidism with short stature, mental reta..
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An autosomal recessive disease characterized by pe..[+]
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hereditary papulotranslucent acrokeratoderma |
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A keratosis of the hands and feet characterized b..[+]
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Hennekam syndrome |
Hennekam lymphangiectasia-lymphedema syndrome; lym..
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A lymphatic system disease characterized by he pre..[+]
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humeroradial synostosis |
humero-radial fusion
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n_a
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Holt-Oram syndrome |
heart-hand syndrome; atrio-digital syndrome; atrio..
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A syndrome characterized by congenital anomalies l..[+]
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horned turban snail allergy |
Turbo cornutus allergy
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A snail allergy triggered by the horned turban sna..[+]
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hepatoid adenocarcinoma |
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An adenocarcinoma with morphologic characteristics..[+]
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Hermansky-Pudlak syndrome 1 |
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A Hermansky-Pudlak syndrome that has_material_basi..[+]
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Hermansky-Pudlak syndrome 2 |
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A Hermansky-Pudlak syndrome that has_material_basi..[+]
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Hermansky-Pudlak syndrome 3 |
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A Hermasky-Pudlak syndrome that has_material_basis..[+]
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Hermansky-Pudlak syndrome 4 |
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A Hermansky-Pudlak syndrome that has_material_basi..[+]
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Hermansky-Pudlak syndrome 5 |
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A Hermansky-Pudlak syndrome that has_material_basi..[+]
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Hermansky-Pudlak syndrome 6 |
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A Hermansky-Pudlak syndrome that has_material_basi..[+]
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Hermansky-Pudlak syndrome 7 |
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A Hermansky-Pudlak syndrome that has_material_basi..[+]
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Hermansky-Pudlak syndrome 8 |
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A Hermansky-Pudlak syndrome that has_material_basi..[+]
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Hermansky-Pudlak syndrome 9 |
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A Hermansky-Pudlak syndrome that has_material_basi..[+]
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Holzgreve-Wagner-Rehder Syndrome |
A syndrome characterized by Potter sequence, heart..[+]
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hypertrichotic osteochondrodysplasia Cantu type |
Cantu syndrome
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An osteochondrodysplasia that is characterized by ..[+]
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hereditary motor and sensory neuropathy with agenesis of the corpus callosum |
agenesis of the corpus callosum with peripheral ne..
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A neuropathy that has_material_basis_in homozygous..[+]
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hyperekplexia |
hereditary hyperekplexia; congenital stiff man syn..
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A nervous system disease characterized by an exagg..[+]
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hyperekplexia 1 |
HKPX1
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A hyperekplexia that has_material_basis_in heteroz..[+]
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hyperekplexia 2 |
HKPX2
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A hyperekplexia that has_material_basis_in compoun..[+]
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hyperekplexia 3 |
HKPX3
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A hyperekplexia that has_material_basis_in homozyg..[+]
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hand-foot-genital syndrome |
HFGS; hand-foot-uterus syndrome
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A autosomal dominant disease characterized by dist..[+]
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hypomyelinating leukodystrophy |
HLD
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A leukodystrophy characterized by T2 hyperintensit..[+]
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hypomyelinating leukodystrophy 2 |
HLD2; Pelizaeus-Merzbacher-like disease 1; Pelizae..
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 10 |
HLD10
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 4 |
HLD4; MitCHAP60 disease; mitochondrial HSP60 chape..
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 3 |
HLD3; Pelizaeus-Merzbacher-like disease due to AIM..
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 9 |
HLD9; RARS-related autosomal recessive hypomyelina..
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 11 |
HLD11
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A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 5 |
A hypomyelinating leukodystrophy characterized by ..[+]
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hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism |
hypomyelination-cerebellar atrophy-hypoplasia of t..
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A hypomyelinating leukodystrophy characterized by ..[+]
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