(Q55785067)

English

macrocephaly, dysmorphic facies, and psychomotor retardation

human disease

MDFPMR
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
megalencephaly-severe kyphoscoliosis-overgrowth syndrome

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1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000103657/MONDO_0014863

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_457359

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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

7 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

0 references

(Q55785067)

macrocephaly, dysmorphic facies, and psychomotor retardation

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