Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	brachydactyly-syndactyly syndrome
Definitions	A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_0050689
comment	OMIM mapping confirmed by DO. [SN].
created_by	snadendla
creation_date	2011-06-17T03:55:47Z
database_cross_reference	OMIM:610713 MESH:C565193
definition	A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0050689
label	brachydactyly-syndactyly syndrome
notation	DOID:0050689
prefLabel	brachydactyly-syndactyly syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050736

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C565193	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/610713	Online Mendelian Inheritance in Man	LOOM