Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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posterior amorphous corneal dystrophy |
PACD
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n_a
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posterior polymorphous corneal dystrophy |
PPCD; hereditary polymorphus posterior corneal dys..
[+]
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A corneal dystrophy that is characterised by chang..[+]
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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 |
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A skin disease characterized by poikiloderma, hype..[+]
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permanent neonatal diabetes mellitus |
A neonatal diabetes mellitus that has_material_bas..[+]
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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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An inherited blood coagulation disease characteriz..[+]
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Pendred Syndrome |
congenital hypothyroidism due to dyshormonogenesis..
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An autosomal recessive disease characterized by bi..[+]
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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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An autosomal recessive disease characterized by ne..[+]
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Potocki-Luspski 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 |
Martinique crinkled retinal pigment epitheliopathy..
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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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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 disease 17 |
autosomal dominant Parkinson disease 17
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A late-onset Parkinson disease that has_material_b..[+]
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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 3 |
progressive familial intrahepatic cholestasis with..
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A progressive familial intrahepatic cholestasis ch..[+]
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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 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 autosomal recessive microcephaly 14 |
MCPH14
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A primary autosomal recessive microcephaly that ha..[+]
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primary autosomal recessive microcephaly 5 |
MCPH5
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A primary autosomal recessive microcephaly that ha..[+]
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primary autosomal recessive microcephaly 12 |
MCPH12
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A primary autosomal recessive microcephaly that ha..[+]
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primary autosomal recessive microcephaly 9 |
MCPH9
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A primary autosomal recessive microcephaly that ha..[+]
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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 2 |
PBC2; BILIARY CIRRHOSIS, PRIMARY, 2
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A primary biliary cholangitis that has_material_ba..[+]
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primary biliary cholangitis 3 |
PBC3; BILIARY CIRRHOSIS, PRIMARY, 3
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A primary biliary cholangitis that has_material_ba..[+]
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physical disorder |
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A disease that has_material_basis_in a genetic abn..[+]
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pycnodysostosis |
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An osteochondrodysplasia that has_material_basis_i..[+]
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pseudoachondroplasia |
An osteochondrodysplasia that has_material_basis_i..[+]
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pseudo-Hurler polydystrophy |
mucolipidosis III
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n_a
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PHARC syndrome |
polyneyropathy, hearing loss, ataxia, retinitis pi..
[+]
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An autosomal recessive disease that is characteriz..[+]
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PTEN hamartoma tumor syndrome |
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A syndrome characterized as a spectrum of disorder..[+]
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Peters plus syndrome |
A syndrome that is characterized by anterior chamb..[+]
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polycystic kidney disease 4 |
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A autosomal recessive polycystic kidney disease th..[+]
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peripheral nervous system benign neoplasm |
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A central nervous system benign neoplasm the is lo..[+]
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