Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Noonan syndrome 9 |
NS9;
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A Noonan syndrome that has_material_basis_in heter..[+]
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Noonan syndrome with multiple lentigines |
Generalized lentiginosis (disorder); Gorlin syndro..
[+]
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A RASopathy that is characterized by autosomal dom..[+]
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1 articles | |
Noonan syndrome with multiple lentigines 1 |
LEOPARD syndrome 1;
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A Noonan syndrome with multiple lentigines that ha..[+]
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Noonan syndrome with multiple lentigines 2 |
LEOPARD syndrome 2;
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A Noonan syndrome with multiple lentigines that ha..[+]
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Noonan syndrome with multiple lentigines 3 |
LEOPARD syndrome 3;
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A Noonan syndrome with multiple lentigines that ha..[+]
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Noonan syndrome-like disorder with loose anagen hair |
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A RASopathy that is characterized by macrocephaly,..[+]
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Noonan syndrome-like disorder with loose anagen hair 1 |
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A Noonan-like syndrome with loose anagen hair that..[+]
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Noonan syndrome-like disorder with loose anagen hair 2 |
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A Noonan syndrome-like disorder with loose anagen ..[+]
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Norman-Roberts syndrome |
lissencephaly syndrome, Norman-Roberts type; lisse..
[+]
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A lissencephaly that has_material_basis_in homozyg..[+]
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Norrie disease |
Norrie-Warburg disease; Episkopi blindness; atroph..
[+]
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A syndrome characterized by degenerative and proli..[+]
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1 articles | |
North Carolina macular dystrophy |
central areolar pigment epithelial dystrophy; cent..
[+]
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A retinal macular dystrophy characterized by limit..[+]
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Norum disease |
lecithin acyltransferase deficiency; LECITHIN:CHOL..
[+]
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n_a
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O'nyong'nyong fever |
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A viral infectious disease that results_in infecti..[+]
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Ogden syndrome |
N-alpha-acetyltransferase; N-terminal acetyltransf..
[+]
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A syndrome characterized by postnatal growth failu..[+]
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Oguchi disease-1 |
congenital stationary night blindness Oguchi type ..
[+]
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A congenital stationary night blindness characteri..[+]
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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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Ohdo syndrome, SBBYS variant |
Say-Barber-Biesecker-Young-Simpson syndrome; SBBYS..
[+]
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A Ohdo syndrome that is characterized by blepharop..[+]
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Oliver-McFarlane syndrome |
long eyelashes-intellectual disability syndrome; O..
[+]
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A syndrome characterized by trichomegaly, severe c..[+]
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Ollier disease |
DYSCHONDROPLASIA; ENCHONDROMATOSIS, MULTIPLE; Kast..
[+]
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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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Opitz GBBB syndrome |
Opitz G/BBB Syndrome; Opitz GBBB syndrome type I;
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A syndrome that is a congenital midline malformati..[+]
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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 |
Osgood-Schlatter disease; Osteochondritis of tibia..
[+]
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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 characterized by pyoderma gangr..[+]
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PCWH syndrome |
PCWH; Peripheral Demyelinating Neuropathy, Central..
[+]
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A syndrome that is characterized by the associatio..[+]
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PEHO syndrome |
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A brain disease that is characterized by extreme c..[+]
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PFAPA syndrome |
Marshall syndrome with periodic fever; Periodic fe..
[+]
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An autoimmune disease that is characterized by rec..[+]
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PHARC syndrome |
polyneyropathy, hearing loss, ataxia, retinitis pi..
[+]
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A syndrome that is characterized by polyneuropathy..[+]
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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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PLACK syndrome |
peeling skin with leukonychia, acral punctate kera..
[+]
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An skin disease characterized by peeling skin in a..[+]
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POEMS syndrome |
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A blood protein disease that is characterized by p..[+]
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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 tumor (morphologic..
[+]
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n_a
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Paganini-Miozzo syndrome |
MRXSPM;
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A syndromic X-linked intellectual disability chara..[+]
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Paget's disease of bone |
Familial Paget's disease of bone; osteitis deforma..
[+]
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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 3 |
Paget disease of bone-3;
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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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Paget's disease of bone 5 |
Familial osteoectasia; Hereditary hyperphosphatasi..
[+]
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A Paget's disease of bone that is characterized by..[+]
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Paget's disease of bone 6 |
Paget disease of bone-6;
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A Paget's disease of bone that is characterized by..[+]
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Pallister-Hall syndrome |
Pallister-Hall syndrome (disorder); A syndrome tha..
[+]
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A syndrome that is characterized by hypothalamic h..[+]
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1 articles | |
Pancoast tumor |
malignant Superior Sulcus tumor; Pancoast's syndro..
[+]
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n_a
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Papillon-Lefevre disease |
Papillon-Lefvre syndrome (disorder); Papillon Lefe..
[+]
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An ectodermal dysplasia that is characterized by p..[+]
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Parkinson's disease |
Parkinson disease; paralysis agitans;
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A synucleinopathy that has_material_basis_in degen..[+]
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16 articles | |
Parkinson's disease 1 |
autosomal dominant Parkinson disease 1; autosomal ..
[+]
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A late onset Parkinson's disease that has_material..[+]
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Parkinson's disease 14 |
autosomal recessive Parkinson disease 14; autosoma..
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A late-onset Parkinson disease that has_material_b..[+]
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