(Q55999903)

English

ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant

human disease

ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

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1 reference

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

0 references

2 references

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000100906/MONDO_0012806

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_238468

0 references

http://www.orpha.net/ORDO/Orphanet_98813

0 references

Identifiers

MeSH descriptor ID

C567411

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

6 August 2018

Mondo ID

MONDO_0012806

(Q55999903)

ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant

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