Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Oguchi disease-2 |
congenital stationary night blindness Oguchi type ..
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A congenital stationary night blindness characteri..[+]
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Ohdo syndrome |
Ohdo blepharophimosis syndrome;
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A syndrome that is characterized by blepharophimos..[+]
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Ohtahara syndrome |
Early Infantile Epileptic Encephalopathy ; Early I..
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A neonatoal period electroclinical syndrome that i..[+]
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Ollier disease |
DYSCHONDROPLASIA; Enchondromatosis with haemangiom..
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A syndrome that is characterized by an asymmetric ..[+]
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Omenn syndrome |
combined immunodeficiency with hypereosinophilia;
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A severe combined immunodeficiency that has_materi..[+]
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Omsk hemorrhagic fever |
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A viral infectious disease that is a hemorrhagic f..[+]
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Oropouche fever |
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A viral infectious disease that results in infecti..[+]
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Osgood-Schlatter's disease |
juvenile osteochondrosis of tibial tubercle; Osgoo..
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A bone inflammation disease that involves rupture ..[+]
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PAPA syndrome |
pyogenic arthritis, pyoderma gangrenosum and acne;..
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A syndrome that is characterised by pyoderma gangr..[+]
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PCWH syndrome |
Neurologic Waardenburg-Shah syndrome; PCWH; Periph..
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An autosomal dominant disease characterized by the..[+]
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PEHO syndrome |
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A brain disease that is characterized by extreme c..[+]
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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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PHGDH deficiency |
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY;
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A serine deficiency that has_material_basis_in def..[+]
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POEMS syndrome |
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n_a
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PSAT deficiency |
Phosphoserine aminotransferase deficiency;
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A serine deficiency that has_material_basis_in def..[+]
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PSPH deficiency |
Phosphoserine phosphatase deficiency; PSPHD;
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A serine deficiency that has_material_basis_in def..[+]
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PTEN hamartoma tumor syndrome |
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A syndrome characterized as a spectrum of disorder..[+]
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Pacinian tumor |
Pacinian Neurofibroma; Pacinian neurofibroma (diso..
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n_a
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Paget's disease of bone |
Familial Paget's disease of bone; osseous Paget's ..
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A bone formation disease that has_material_basis_i..[+]
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Paget's disease of bone 2 |
Paget disease of bone-2;
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A Paget's disease of bone that has_material_basis_..[+]
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Paget's disease of bone 4 |
Paget disease of bone-4;
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A Paget's disease of bone that has_material_basis_..[+]
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Pallister-Hall syndrome |
Pallister-Hall syndrome (disorder);
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A syndrome that is characterized by hypothalamic h..[+]
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Pancoast tumor |
malignant Superior Sulcus tumor; Pancoast's syndro..
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n_a
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Papillon-Lefevre disease |
Papillon Lefevre syndrome; Papillon-Lefvre syndrom..
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n_a
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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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Parkinson's disease |
paralysis agitans; Parkinson disease;
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A synucleinopathy that has_material_basis_in degen..[+]
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Parkinson's disease 2 |
autosomal recessive juvenile Parkinson disease 2; ..
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An early-onset Parkinson's disease that has_materi..[+]
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Parkinson's disease 21 |
PARK21; Parkinson disease 21;
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A late onset Parkinson's disease characterized by ..[+]
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Parkinson's disease 3 |
autosomal dominant Lewy body Parkinson disease 3; ..
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A late onset Parkinson's disease characterized by ..[+]
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Parkinson's disease 7 |
autosomal recessive early-onset Parkinson disease ..
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An early-onset Parkinson's disease that has_materi..[+]
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Partington syndrome |
X-linked Russell-Silver syndrome;
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A syndrome characterized by intellectual disabilit..[+]
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Patau syndrome |
D1 Trisomy ; Patau's syndrome; trisomy 13;
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n_a
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Pearson syndrome |
Pearson Marrow-Pancreas Syndrome;
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A mitochondrial metabolism disease that is charact..[+]
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Pediculus humanus capitis infestation |
head louse infestation; Pediculosis capitis (disor..
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A lice infestation that involves colonization of t..[+]
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Pediculus humanus corporis infestation |
body louse infestation; Pediculus corporis; Pedicu..
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A lice infestation that is a cutaneous condition c..[+]
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Pelger-Huet anomaly |
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n_a
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Pelizaeus-Merzbacher disease |
diffuse familial brain sclerosis; HLD1; hypomyelin..
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A hypomyelinating leukodystrophy characterized by ..[+]
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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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Perlman syndrome |
nephroblastomatosis - fetal ascites - macrosomia -..
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A syndrome characterized by polyhydramnios with ne..[+]
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Perrault syndrome |
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An autosomal recessive disesase that is characteri..[+]
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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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Peters anomaly |
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A corneal disease characterized by a central corne..[+]
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Peters plus syndrome |
Krause-Kivlin syndrome; Peters anomaly-short limb ..
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A syndrome that is characterized by anterior chamb..[+]
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Peutz-Jeghers syndrome |
Colonic hamartomatous polyp; gastric Peutz-Jeghers..
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n_a
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Peyronie's disease |
Induratio penis plastica; Peyronie disease; Peyron..
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n_a
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Pfeiffer syndrome |
acrocephalosyndactylia type V;
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An acrocephalosyndactylia that has_material_basis_..[+]
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Phelan-McDermid syndrome |
22q13.3 deletion syndrome; monosomy 22q13 syndrome..
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A chromosomal deletion syndrome that has_material_..[+]
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Phlebotomus fever |
pappataci fever; Sandfly fever; Sandfly-borne arbo..
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A viral infectious disease that results in infecti..[+]
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Phlegmonous dacryocystitis |
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n_a
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Pick's disease |
Dementia in Pick's disease (disorder); LOBAR ATROP..
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n_a
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