Mondo Disease Ontology

Last uploaded: May 9, 2024
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Preferred Name

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

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

genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

genetic MCA/variable MR
Definitions

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

http://purl.obolibrary.org/obo/MONDO_0043007
Obsolete

true
consider

MONDO:0021147
database_cross_reference

Orphanet:330197
definition

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

true
exactMatch

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

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

genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

genetic MCA/variable MR
IAO_0000231

http://purl.obolibrary.org/obo/OMO_0001000
IAO_0000233

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

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

MONDO:0043007
label

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

MONDO:0043007
prefLabel

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