(Q940210)

English

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

human disease

AEC syndrome
Hay-Wells syndrome
ankyloblepharon-ectodermal defects-cleft lip and palate syndrome

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Statements

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1 reference

30 November 2020

autosomal dominant disease

1 reference

30 November 2020

syndromic ankyloblepharon

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2 references

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000073282/Orphanet_1071

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

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NCI Thesaurus ID

C157576

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exact match

http://purl.obolibrary.org/obo/DOID_0090119

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0090119

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_1071

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Identifiers

1 reference

28 August 2019

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1 reference

30 November 2020

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

6571

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Genetics Home Reference Conditions ID

ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome

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ICD-11 (foundation)

1008188767

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Microsoft Academic ID

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1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

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(Q940210)

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

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Identifiers

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