(Q25324166)

English

isolated congenital asplenia

rare human disease

ICAS
ASPLENIA, ISOLATED CONGENITAL
Hyposplenia, Isolated Congenital
Asplenia, Familial
ASPLENIA, ISOLATED CONGENITAL; ICAS
Splenic Hypoplasia

In more languages

edit

Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

0 references

non-syndromic visceral malformation

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010066

other immunodeficiency syndromes due to defects in innate immunity

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

3 references

13 August 2019

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000168028/MONDO_0010066

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_101351

0 references

Identifiers

MeSH descriptor ID

C563028

mapping relation type

exact match

subject named as

Splenic Hypoplasia

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Genetics Home Reference Conditions ID

isolated-congenital-asplenia

0 references

ICD-10-CM

Q89.0

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

LB22.0

Congenital asplenia

0 references

Microsoft Academic ID

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Sitelinks

Wikipedia(2 entries)

arwiki انعدام الطحال الخلقي المعزول
enwiki Isolated congenital asplenia

(Q25324166)

isolated congenital asplenia

Statements

Identifiers

Sitelinks

Wikipedia(2 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)