isolated congenital asplenia (Q25324166)

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rare human disease

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

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Language	Label	Description	Also known as
English	isolated congenital asplenia	rare human disease	ICAS ASPLENIA, ISOLATED CONGENITAL Hyposplenia, Isolated Congenital Asplenia, Familial ASPLENIA, ISOLATED CONGENITAL; ICAS Splenic Hypoplasia

Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010066

rare disease

0 references

class of disease

0 references

subclass of

asplenia

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

retrieved

28 July 2018

Mondo ID

MONDO_0010066

genetic association

RPSA

3 references

stated in

UniProt

UniProt protein ID

P08865

retrieved

13 August 2019

stated in

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

retrieved

28 July 2018

Mondo ID

MONDO_0010066

KEGG ID

H01435

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

retrieved

28 July 2018

Mondo ID

MONDO_0010066

ICD-11 ID (Foundation)

605819742

0 references

ICD-11 ID (MMS)

LB22.0

subject named as

Congenital asplenia

0 references

Microsoft Academic ID

2778833392

0 references

Mondo ID

MONDO_0010066

0 references

OMIM ID

271400

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010066

Orphanet ID

101351

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010066

UMLS CUI

C1849084

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010066

C0685889

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010066

UniProt disease ID

DI-03692

0 references

 

Sitelinks

Wikipedia(2 entries)

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• arwiki انعدام الطحال الخلقي المعزول
• enwiki Isolated congenital asplenia

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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