Terminology Service for NFDI4Health
JSON

genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0043007

An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. [ ]

Term info

Label

genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Synonyms
  • genetic MCA/variable MR
  • genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome
  • hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
database cross reference
Subsets

disease_grouping, obsoletion_candidate, ordo_group_of_disorders

IAO 0006012

2022-09-01

comment

Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0021147 disorder of development or morphogenesis

exactMatch

http://purl.obolibrary.org/obo/Orphanet_330197

id

MONDO:0043007

see also

https://github.com/monarch-initiative/mondo/issues/4069, https://github.com/monarch-initiative/mondo/issues/5114