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distal trisomy 2p

Go to external page http://purl.obolibrary.org/obo/MONDO_0019871

Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. [ Orphanet:96070 ]

Synonyms: distal trisomy type 2p trisomy 2pter distal duplication 2p telomeric duplication 2p

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1646233 (MONDO:equivalentTo)
  • GARD:19304 (MONDO:GARD)
  • SCTID:764518004 (MONDO:equivalentTo)
  • UMLS:C4706937 (MONDO:equivalentTo)
  • Orphanet:96070 (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://identifiers.org/snomedct/764518004

http://www.orpha.net/ORDO/Orphanet_96070

http://identifiers.org/medgen/1646233

http://linkedlifedata.com/resource/umls/id/C4706937

excluded subClassOf

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

id

MONDO:0019871