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distal trisomy 2q

Go to external page http://purl.obolibrary.org/obo/MONDO_0019877

Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. [ Orphanet:96094 ]

Synonyms: trisomy 2qter distal trisomy type 2q distal duplication 2q telomeric duplication 2q

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4706361 (MONDO:equivalentTo)
  • SCTID:763272003 (MONDO:equivalentTo)
  • GARD:19310 (MONDO:GARD)
  • MEDGEN:1634043 (MONDO:equivalentTo)
  • Orphanet:96094 (MONDO:equivalentTo)
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://www.orpha.net/ORDO/Orphanet_96094

http://identifiers.org/medgen/1634043

http://linkedlifedata.com/resource/umls/id/C4706361

http://identifiers.org/snomedct/763272003

id

MONDO:0019877