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DO Term : multiple epiphyseal dysplasia 1 [DOID:0070303] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.

synonyms:
MED1,
multiple epiphyseal dysplasia COMP-related,
132400,
OMIM:132400,
SNOMEDCT_US_2023_03_01:715673002,
polyepiphyseal dysplasia type 1,
GARD:2180,
UMLS_CUI:C1838280,
MESH:C535501,
ORDO:93308,
EDM1

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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