Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 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

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http://purl.obolibrary.org/obo/DOID_0050689 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050689 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.bioontology.org/ontology/MESH/C565193 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/610713 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0012544 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0012544 Experimental Factor Ontology / 实验性因素本体 LOOM