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distal trisomy 10q

Go to external page http://purl.obolibrary.org/obo/MONDO_0019884

Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. [ Orphanet:96102 ]

Synonyms: Chromosome 10, Distal Trisomy 10q trisomy 10qter distal duplication 10q distal trisomy type 10q telomeric duplication 10q

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C538087 (Orphanet:96102/e)
  • UMLS:C2931728 (MONDO:equivalentTo)
  • SCTID:718689000 (MONDO:equivalentTo)
  • Orphanet:96102 (MONDO:equivalentTo)
  • MEDGEN:419480 (MONDO:equivalentTo)
  • NORD:934 (MONDO:NORD)
  • GARD:19317 (MONDO:GARD)
Subsets

ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3492

exactMatch

http://linkedlifedata.com/resource/umls/id/C2931728

http://identifiers.org/mesh/C538087

http://identifiers.org/snomedct/718689000

http://identifiers.org/medgen/419480

http://www.orpha.net/ORDO/Orphanet_96102

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020226

id

MONDO:0019884