FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Treacher Collins syndrome 1

Synonyms
Definitions

A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.

ID

http://purl.obolibrary.org/obo/DOID_0080789

definition

A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Treacher Collins syndrome 1

prefixIRI

DOID:0080789

prefLabel

Treacher Collins syndrome 1

subClassOf

http://purl.obolibrary.org/obo/DOID_2908

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