JSON

intellectual disability-seizures-macrocephaly-obesity syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018248

Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. [ Orphanet:369950 ]

Term info

database cross reference
  • UMLS:CN204818 (MONDO:equivalentTo)
  • Orphanet:369950 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN204818, http://purl.obolibrary.org/obo/Orphanet_369950

excluded subClassOf

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

has exact synonym

Der(8)t(8;12)

id

MONDO:0018248