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13q12.3 microdeletion syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018474

13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. [ Orphanet:412035 ]

Term info

database cross reference
  • Orphanet:412035 (MONDO:equivalentTo)
  • UMLS:CN237459 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3664

definition

13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_412035, http://linkedlifedata.com/resource/umls/id/CN237459

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Del(13)(q12.3), monosomy 13q12.3

id

MONDO:0018474