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non-distal trisomy 9q

Go to external page http://purl.obolibrary.org/obo/MONDO_0019890

Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. [ Orphanet:96112 ]

Synonyms: non-distal duplication 9q non-telomeric trisomy 9q non-distal trisomy type 9q

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:96112 (MONDO:equivalentTo)
  • MEDGEN:1631139 (MONDO:equivalentTo)
  • SCTID:764997000 (MONDO:equivalentTo)
  • GARD:19323 (MONDO:GARD)
  • UMLS:C4707261 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

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

exactMatch

http://identifiers.org/medgen/1631139

http://identifiers.org/snomedct/764997000

http://linkedlifedata.com/resource/umls/id/C4707261

http://www.orpha.net/ORDO/Orphanet_96112

id

MONDO:0019890