Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

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

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

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml

database_cross_reference

Orphanet:330197

exactMatch

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

id

MONDO:0043007

imported from

http://purl.obolibrary.org/obo/mondo.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

label

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

notation

MONDO:0043007

prefLabel

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

textual definition

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019117

http://purl.obolibrary.org/obo/MONDO_0043005

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

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0015160

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http://purl.obolibrary.org/obo/MONDO_0043007 MONDO SAME_URI