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DO Term : multiple epiphyseal dysplasia 4 [DOID:0070300] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.

synonyms:
MED4,
Polyepiphyseal dysplasia type 4,
SNOMEDCT_US_2023_03_01:715672007,
rMED,
GARD:9793,
multiple epiphyseal dysplasia with clubfoot,
multiple epiphyseal dysplasia with bilateral patellae,
MESH:C535504,
ORDO:93307,
226900,
OMIM:226900,
EDM4,
UMLS_CUI:C1847593

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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