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EEM syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009155

EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). [ Orphanet:1897 ]

Synonyms: ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome EEM syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:2078 (Orphanet:1897)
  • SCTID:720856002 (MONDO:equivalentTo)
  • Orphanet:1897 (OMIM:225280)
  • MESH:C536190 (MONDO:equivalentTo)
  • DOID:0111649 (MONDO:equivalentTo)
  • OMIM:225280 (Orphanet:1897/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

https://omim.org/entry/225280

http://identifiers.org/mesh/C536190

http://purl.obolibrary.org/obo/DOID_0111649

http://identifiers.org/snomedct/720856002

http://www.orpha.net/ORDO/Orphanet_1897

has related synonym

ectodermal dysplasia, ectrodactyly, and macular dystrophy

EEMS

ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome

id

MONDO:0009155

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009155

https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome