JSON

trisomy 13

^ http://purl.obolibrary.org/obo/MONDO_0018068

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. [ Orphanet:3378 ]

Term info

database cross reference
  • MedDRA:10044686 (Orphanet:3378/e)
  • SCTID:21111006 (MONDO:equivalentTo)
  • UMLS:C0152095 (Orphanet:3378)
  • UMLS:CN204386 (MONDO:equivalentTo)
  • Orphanet:3378 (MONDO:equivalentTo)
  • NCIT:C101223 (MONDO:equivalentTo)
  • ICD9:758.1 (MONDO:i2s)
  • GARD:0007341 (MONDO:equivalentTo)
  • DOID:11665 (MONDO:equivalentTo)
  • MESH:C536305 (MONDO:equivalentTo)
  • NCIT:C36529 (MONDO:relatedTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/pull/5597#issuecomment-1316149238

closeMatch

http://identifiers.org/meddra/10044686

definition

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0152095, http://identifiers.org/mesh/C536305, http://purl.obolibrary.org/obo/Orphanet_3378, http://identifiers.org/snomedct/21111006, http://purl.obolibrary.org/obo/DOID_11665, http://purl.obolibrary.org/obo/NCIT_C101223, http://linkedlifedata.com/resource/umls/id/CN204386

excluded subClassOf

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

has exact synonym

Patau syndrome, trisomy 13, trisomy type 13, Patau's syndrome

has related synonym

D trisomy syndrome (formerly), chromosome 13, trisomy 13 complete, D1 trisomy

id

MONDO:0018068

relatedMatch

http://purl.obolibrary.org/obo/NCIT_C36529