About: isolated congenital asplenia

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

rare human disease

Attributes	Values
rdf:type	Item
owl:sameAs	isolated congenital asplenia
description	rare human disease (en)
exact match	wds:Q25324166-319AB2AA-4206-4BB6-A24F-A3E1ABF9C157
exact match	http://www.orpha.net/ORDO/Orphanet_101351
Mondo ID	wds:Q25324166-6C27830E-08B3-458C-8D80-1A8C1B0B82E7
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010066
Mondo ID	MONDO_0010066
rdfs:label	انعدام الطحال الخلقي المعزول (ar) asplénie congénitale familiale isolée (fr) isolated congenital asplenia (en) izolirana kongenitalna asplenija (sl) 孤立性先天無脾症 (zh)
skos:prefLabel	انعدام الطحال الخلقي المعزول (ar) asplénie congénitale familiale isolée (fr) isolated congenital asplenia (en) izolirana kongenitalna asplenija (sl) 孤立性先天無脾症 (zh)
name	انعدام الطحال الخلقي المعزول (ar) asplénie congénitale familiale isolée (fr) isolated congenital asplenia (en) izolirana kongenitalna asplenija (sl) 孤立性先天無脾症 (zh)
instance of	wds:Q25324166-3C2DE490-952D-48FE-91F2-493EDC964F1B wds:Q25324166-457CE688-E793-46E4-A0FE-0BB1226C7B8F wds:Q25324166-D29E092A-3BB6-4D2B-B8B6-B0131CE38853
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q25324166-294ac3b5-4c2e-945e-f592-6c2634a61f40 wds:Q25324166-690A8125-675B-493E-B524-4A2B3051D4E5 wds:Q25324166-AA2775AA-6AC8-45B8-9D3B-5927F9014F66
subclass of	asplenia other immunodeficiency syndromes due to defects in innate immunity non-syndromic visceral malformation
KEGG ID	wds:Q25324166-F3ED1D6E-7E6A-4160-B8BE-3FF55BDB7C1E
KEGG ID	http://www.kegg.jp/entry/H01435
KEGG ID	H01435
UniProt disease ID	wds:Q25324166-c5bcec36-41fe-800a-30fa-7caf2db22b29
Orphanet ID	wds:Q25324166-6d33dfa2-4a26-0e0a-eb66-10b97f9fede6
genetic association	wds:Q25324166-347A69DC-A9BE-411C-990E-26BED069D7C1
ICD-10-CM	wds:Q25324166-32CE1F7A-8163-44E0-BC9E-9A721700D884
OMIM ID	wds:Q25324166-932f9782-4beb-0a17-2589-63733c01363f
Genetics Home Reference Conditions ID	wds:Q25324166-20A36773-08A2-413D-826E-D6A6229A5025
UniProt disease ID	DI-03692
Orphanet ID	101351
genetic association	RPSA
ICD-10-CM	Q89.0
OMIM ID	271400
Genetics Home Reference Conditions ID	isolated-congenital-asplenia
skos:altLabel	ICAS (en) ASPLENIA, ISOLATED CONGENITAL (en) ASPLENIA, ISOLATED CONGENITAL; ICAS (en) Asplenia, Familial (en) Hyposplenia, Isolated Congenital (en) Splenic Hypoplasia (en) izolirana prirojena asplenija (sl)
UMLS CUI	wds:Q25324166-8E892696-2C7F-4E87-BEE7-BB83FF2F9275 wds:Q25324166-926E92CC-D8DE-4E9F-8FE6-7F57624ECBDF
MeSH descriptor ID	wds:Q25324166-FC760BF6-CEBA-454D-B0B9-20B294D34D26
Microsoft Academic ID	wds:Q25324166-6DAE3D31-F8A5-4797-9608-89DC05C4FAB4
ICD-11 ID (MMS)	wds:Q25324166-A30545E0-83E9-47F2-ADF8-562EEF2D52A7
ICD-11 (foundation)	wds:Q25324166-9BAE70B2-AA35-468B-98CD-729AAAD02AA5
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C563028
Microsoft Academic ID	https://makg.org/entity/2778833392
UMLS CUI	C0685889 C1849084
MeSH descriptor ID	C563028
Microsoft Academic ID	2778833392
ICD-11 ID (MMS)	LB22.0
ICD-11 (foundation)	605819742
is about of	isolated congenital asplenia https://www.wikidata.org/wiki/Special:EntityData/Q25324166 Isolated congenital asplenia https://ar.wikipedia.org/wiki/%D8%A7%D9%86%D8%B9%D8%AF%D8%A7%D9%85_%D8%A7%D9%84%D8%B7%D8%AD%D8%A7%D9%84_%D8%A7%D9%84%D8%AE%D9%84%D9%82%D9%8A_%D8%A7%D9%84%D9%85%D8%B9%D8%B2%D9%88%D9%84
is main subject of	Mice lacking pituitary tumor transforming gene show testicular and splenic hypoplasia, thymic hyperplasia, thrombocytopenia, aberrant cell cycle progression, and premature centromere division Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia Familial Occurrence of Ivemark Syndrome with Splenic Hypoplasia and Asplenia in Sibs Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others Familial isolated congenital asplenia: case report and literature review Congenital Splenic Hypoplasia in an Elderly Patient. Isolated Congenital Asplenia: An Occult Case of Overwhelming Sepsis Lethal pneumococcal infection in an 18-month-old girl with splenic hypoplasia and dysgammaglobulinemia Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons Isolated Congenital Asplenia in an Asymptomatic Patient: A Very Rare Diagnosis [Connecting isolated congenital asplenia to the ribosome]. , a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in A Rare Case of Isolated Congenital Asplenia Presenting in Septic Shock: Howell-Jolly Bodies a Clue to Early Diagnosis Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons Heinz body anaemia with splenic hypoplasia Polysplenia syndrome and splenic hypoplasia associated with extrahepatic biliary atresia. Case report; a recurrent case of fulminant pneumococcal infection due to splenic hypoplasia under use of pneumococcal vaccine Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review [Emergence of Howell-Jolly bodies in a patient with splenic hypoplasia complicated by fulminant pneumococcal infection]
is main subject of	wds:Q34732454-64AB41C6-085C-4471-A0A2-2792EB247D32 wds:Q54215465-65C28A80-061D-4156-8A20-1C8B58505E31 wds:Q34993036-A5906276-57A2-4268-A07A-F788F20F26A5 wds:Q92067350-D1DCBDDF-F93E-4D2F-A6AC-8B9DC5A03A2D

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