About: Pearson syndrome

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mitochondrial metabolism disease

Attributes	Values
rdf:type	Item
owl:sameAs	Pearson syndrome
description	Krankheit (de) хвороба (uk) maladie mitochondriale d'hérédité strictement maternelle ou sporadique (fr) mitochondrial metabolism disease (en)
exact match	wds:Q9081107-4D4D1FF0-719A-4488-9BF2-16D7C08DE130 wds:Q9081107-A013F858-AB48-4F43-BF50-21EA71A23297 wds:Q9081107-A03DB815-D40F-45C2-9D53-D60D9EA6CC03
exact match	http://purl.obolibrary.org/obo/DOID_0060067 http://identifiers.org/doid/DOID:0060067 http://www.orpha.net/ORDO/Orphanet_699
Mondo ID	wds:Q9081107-3D274C77-7BB2-414D-A65D-7660302E8C54
DiseasesDB	wds:q9081107-FD8D852E-89D4-4E2B-BCB9-CD0CD9E6876A
Disease Ontology ID	wds:Q9081107-166ADCF9-3572-442F-A272-7E8CC132D169
symptoms and signs	wds:Q9081107-3394A5FF-6B7E-4BBB-AC2C-C82E8450236F wds:Q9081107-7BB79463-0715-4B13-B28E-7C29273DDC8D wds:Q9081107-8AD3ACFA-A206-48EF-9527-75E5540080DB wds:Q9081107-97E159F3-A29C-4EB7-A558-33E1D76297EE wds:Q9081107-9BD8A27C-0833-4F04-BE5E-439DA0403D99 wds:Q9081107-A0068C23-F9B4-445A-998B-EE3190E5F605 wds:Q9081107-D4C061C6-E6BC-4451-B018-CC680F8B61FA
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010797
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060067
Mondo ID	MONDO_0010797
DiseasesDB	32159
Disease Ontology ID	DOID:0060067
symptoms and signs	anemia liver failure tremor diarrhea exocrine pancreatic insufficiency
rdfs:label	Morbus Pearson (de) Pearson syndrome (en) Síndrome de Pearson (es) Наследственная сидеробластная анемия (ru) Zespół Pearsona (pl) sindromo de Pearson (eo) syndrome de Pearson (fr) Синдром Пірсона (uk) سندرم پی‌یرسون (fa) متلازمة بيرسون (ar) ピアソン症候群 (ja) 皮爾森綜合症 (zh)
skos:prefLabel	Morbus Pearson (de) Pearson syndrome (en) Síndrome de Pearson (es) Наследственная сидеробластная анемия (ru) Zespół Pearsona (pl) sindromo de Pearson (eo) syndrome de Pearson (fr) Синдром Пірсона (uk) سندرم پی‌یرسون (fa) متلازمة بيرسون (ar) ピアソン症候群 (ja) 皮爾森綜合症 (zh)
name	Morbus Pearson (de) Pearson syndrome (en) Síndrome de Pearson (es) Наследственная сидеробластная анемия (ru) Zespół Pearsona (pl) sindromo de Pearson (eo) syndrome de Pearson (fr) Синдром Пірсона (uk) سندرم پی‌یرسون (fa) متلازمة بيرسون (ar) ピアソン症候群 (ja) 皮爾森綜合症 (zh)
Freebase ID	wds:Q9081107-5AFA0AFB-5AA7-4CCB-A7CD-18939DE5F803
Freebase ID	/m/02vmxng
instance of	wds:Q9081107-7017D127-2120-49C6-A756-BF6659AD7E3C
instance of	class of disease
subclass of	wds:Q9081107-0D55FB96-62A3-407C-886B-A346F9F2831D
subclass of	mitochondrial disease
eMedicine ID	wds:q9081107-855776B9-82ED-4B09-A938-E629F7471538
eMedicine ID	957186
Orphanet ID	wds:Q9081107-3F0AEE66-7719-460F-9495-0DBA7EF77C0F
ICD-9-CM	wds:Q9081107-9BE74E25-2EA0-4D25-9946-4638C146B6A8
ICD-10-CM	wds:Q9081107-B9BD8568-FB63-4DC5-BD6A-FE5C4BFD9E71
PatientsLikeMe condition ID	wds:Q9081107-5aa86a34-4c3b-ec28-de2a-deaf845aeeaa
GARD rare disease ID	wds:Q9081107-A3839514-26C7-4515-9E6F-BE40C1DA0AB0
OMIM ID	wds:Q9081107-47666BE0-F1DC-4662-BC6A-B9285B36FF2D wds:q9081107-51DC316E-3A03-409F-888B-AF162E887D52
GeneReviews ID	wds:q9081107-D9F46A71-59F6-430D-B698-E23876F51EB4
Orphanet ID	699
ICD-9-CM	277.87
ICD-10-CM	D64.0
PatientsLikeMe condition ID	pearson-s-syndrome
GARD rare disease ID	7343
OMIM ID	557000
GeneReviews ID	NBK1203
skos:altLabel	Pearson marrow-pancreas syndrome (en) Pearson's marrow/pancreas syndrome (en) Pearson's syndrome (en) Sindrome de Pearson (es) Sideroblastic Anemia With Marrow Cell Vacuolization and Exocrine Pancreatic Dysfunction (en) Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly) (en)
NCI Thesaurus ID	wds:Q9081107-57d04b69-44cb-1b6a-b335-bc62122b6465 wds:Q9081107-9A959989-2F27-4E18-96EE-5B8F27CE5DA4
UMLS CUI	wds:Q9081107-08926E5C-63B7-42A8-B72F-FCDEF72CB9D9

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