ZFIN Human Disease: multiple epiphyseal dysplasia 4

OBO ID: DOID:0070300

Term Name:	multiple epiphyseal dysplasia 4		Search Ontology:
Synonyms:	EDM4 MED4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot Polyepiphyseal dysplasia type 4 rMED
Definition:	A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. https://www.ncbi.nlm.nih.gov/pubmed/10465113
References:	GARD:9793 MESH:C535504 OMIM:226900 ORDO:93307 SNOMEDCT_US_2023_03_01:715672007 UMLS_CUI:C1847593
Ontology:	Human Disease ( DOID:0070300 )

Relationships

is a type of:	autosomal recessive disease multiple epiphyseal dysplasia autosomal recessive disease multiple epiphyseal dysplasia Show first 5 Terms

OTHER multiple epiphyseal dysplasia 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC26A2	slc26a2	Epiphyseal dysplasia, multiple, 4	226900

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None