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distal monosomy 12p

Go to external page http://purl.obolibrary.org/obo/MONDO_0017229

Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. [ Orphanet:280325 ]

Synonyms: Del(12)(p13.33) 12p13.33 microdeletion syndrome distal deletion 12p distal monosomy type 12p

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:280325 (MONDO:equivalentTo)
  • GARD:21078 (MONDO:GARD)
  • UMLS:C4749581 (MONDO:equivalentTo)
  • MEDGEN:1648932 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_280325

http://identifiers.org/medgen/1648932

http://linkedlifedata.com/resource/umls/id/C4749581

id

MONDO:0017229

Term relations