Human Disease Ontology

Last uploaded: November 27, 2024
Preferred Name

craniosynostosis 1
Synonyms

CRS1

Definitions

A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.

ID

http://purl.obolibrary.org/obo/DOID_0061010

database_cross_reference

MIM:123100

definition

A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.

has exact synonym

CRS1

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0061010

label

craniosynostosis 1

notation

DOID:0061010

prefLabel

craniosynostosis 1

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_2340

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