Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Perlman syndrome |
nephroblastomatosis - fetal ascites - macrosomia -..
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A syndrome characterized by polyhydramnios with ne..[+]
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Perry syndrome |
parkinsonism with alveolar hypoventilation and men..
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A syndrome characterized by parkinsonism, hypovent..[+]
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Pitt-Hopkins syndrome |
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A syndrome characterized by intellectual disabilit..[+]
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pollen allergy |
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A respiratory allergy triggered by pollen.
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peach allergy |
Prunus persica fruit allergy
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A fruit allergy triggered by Prunus persica plant ..[+]
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plum allergy |
Prunus domestica fruit allergy
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A fruit allergy triggered by Prunus domestica plan..[+]
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penicillin allergy |
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A beta-lactam allergy triggered by penicillin.
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purpura fulminans |
purpura gangrenosa
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A purpura characterized by blood spots, bruising a..[+]
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poikiloderma with neutropenia |
poikiloderma with neutropenia, Clericuzio type
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A skin disease characterized by poikiloderma, hype..[+]
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permanent neonatal diabetes mellitus |
A neonatal diabetes that has_material_basis_in hom..[+]
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1 articles | ||
primary sclerosing cholangitis |
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A sclerosing cholangitis characterized by fibroobl..[+]
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Peters anomaly |
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A corneal disease characterized by a central corne..[+]
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pigment dispersion syndrome |
pigment-dispersion type glaucoma; glaucoma-related..
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An eye disease characterized by slit-like depigmen..[+]
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platelet-type bleeding disorder 16 |
autosomal dominant Glanzmann thrombasthenia; autos..
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A blood platelet disease characterized by autosoma..[+]
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platelet-type bleeding disorder 8 |
P2Y12 defect; ADP platelet receptor P2Y12 defect
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A blood platelet disease characterized by mild to ..[+]
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Pendred Syndrome |
congenital hypothyroidism due to dyshormonogenesis..
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A syndrome characterized by bilateral prelingual s..[+]
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4 articles | |
Prieto syndrome |
Prieto-Badia-Mulas syndrome; X-linked intellectual..
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A syndromic X-linked intellectual disability chara..[+]
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pemphigus vulgaris |
familial pemphigus vulgaris
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A pemphigus characterized by autosomal dominant bl..[+]
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Pierson syndrome |
microcoria-congenital nephrosis syndrome
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A syndrome characterized by nephrotic syndrome wit..[+]
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Potocki-Lupski syndrome |
17p11.2 microduplication syndrome; chromosome 17p1..
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A chromosomal duplication syndrome characterized b..[+]
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patterned macular dystrophy |
patterned dystrophy of retinal pigment epithelium; ..
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A macular degeneration characterized by abnormal a..[+]
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patterned macular dystrophy 2 |
butterfly-shaped pigmentary maculary dystrophy 2; ..
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A patterned macular dystrophy characterized by bil..[+]
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patterned macular dystrophy 3 |
MDPT3; Martinique crinkled retinal pigment epithel..
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A patterned macular dystrophy characterized by a '..[+]
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patterned macular dystrophy 1 |
butterfly-shaped pigmentary maculary dystrophy 1; ..
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A patterned macular dystrophy characterized by bil..[+]
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primary hypomagnesemia |
primary familial hypomagnesemia; HOMG
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A metal metabolism disorder characterized by very ..[+]
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1 articles | |
prune belly syndrome |
abdominal muscle deficiency syndrome; Eagle-Barret..
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A syndrome that is characterized by megacystis wit..[+]
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Parkinson's disease 19A |
juvenile onset Parkinson disease 19A; juvenile ons..
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An early-onset Parkinson's diseas that has_materia..[+]
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Parkinson disease 17 |
autosomal dominant Parkinson disease 17
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A late-onset Parkinson disease that has_material_b..[+]
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proteosome-associated autoinflammatory syndrome |
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A syndrome that is characterized by early onset, d..[+]
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proteosome-associated autoinflammatory syndrome 2 |
PRAAS2
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A proteasome-associated autoinflammatory syndrome ..[+]
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proteosome-associated autoinflammatory syndrome 4 |
PRAAS4
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A proteasome-associated autoinflammatory syndrome ..[+]
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proteasome-associated autoinflammatory syndrome 3 |
PRAAS3
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A proteasome-associated autoinflammatory syndrome ..[+]
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proteosome-associated autoinflammatory syndrome 5 |
PRAAS5
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A proteasome-associated autoinflammatory syndrome ..[+]
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progressive familial intrahepatic cholestasis |
PFIC; Byler disease
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An intrahepatic cholestasis characterized by early..[+]
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progressive familial intrahepatic cholestasis 2 |
PFIC2; BSEP deficiency
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A progressive familial intrahepatic cholestasis ch..[+]
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progressive familial intrahepatic cholestasis 3 |
progressive familial intrahepatic cholestasis with..
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A progressive familial intrahepatic cholestasis ch..[+]
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progressive familial intrahepatic cholestasis 4 |
PFIC4; TJP2 deficit
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A progressive familial intrahepatic cholestasis ch..[+]
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progressive familial intrahepatic cholestasis 5 |
PFIC5; NR1H4 deficiency
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A progressive familial intrahepatic cholestasis ch..[+]
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progressive familial intrahepatic cholestasis 1 |
PFIC1; FIC1 deficiency
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A progressive familial intrahepatic cholestasis ch..[+]
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primary coenzyme Q10 deficiency 1 |
coenzyme Q deficiency 1; CoQ deficiency 1; CoQ10 d..
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A primary coenzyme Q10 deficiency that has_materia..[+]
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primary coenzyme Q10 deficiency 2 |
COQ10D2; deafness-encephaloneuropathy-obesity-valv..
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A primary coenzyme Q10 deficiency that has_materia..[+]
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primary coenzyme Q10 deficiency 3 |
coenzyme Q10 deficiency, primary, 3; COQ10D3
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A primary coenzyme Q10 deficiency that has_materia..[+]
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primary coenzyme Q10 deficiency 4 |
coenzyme Q10 deficiency, primary, 4; COQ10D4; SCAR..
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A primary coenzyme Q10 deficiency that has_materia..[+]
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primary coenzyme Q10 deficiency 5 |
coenzyme Q10 deficiency, primary, 5; COQ10D5; ence..
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A primary coenzyme Q10 deficiency that has_materia..[+]
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primary coenzyme Q10 deficiency 6 |
coenzyme Q10 deficiency, primary, 6; COQ10D6; fami..
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A primary coenzyme Q10 deficiency that has_materia..[+]
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primary coenzyme Q10 deficiency 7 |
coenzyme Q10 deficiency, primary, 7; COQ10D7; COQ4..
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A primary coenzyme Q10 deficiency that has_materia..[+]
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primary coenzyme Q10 deficiency 8 |
coenzyme Q10 deficiency, primary, 8; COQ10D8
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A primary coenzyme Q10 deficiency that has_materia..[+]
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primary autosomal recessive microcephaly |
MCPH
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A primary microcephaly characterized by microcepha..[+]
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post-cardiac arrest syndrome |
post cardiac syndrome
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A syndrome that is characterized by four main comp..[+]
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primary biliary cholangitis 1 |
PBC1; BILIARY CIRRHOSIS, PRIMARY, 1
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A primary biliary cholangitis that has_material_ba..[+]
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