JSON

2p21 microdeletion syndrome

^ http://purl.obolibrary.org/obo/MONDO_0015583

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. [ Orphanet:163693 ]

Term info

database cross reference
  • Orphanet:163693 (MONDO:equivalentTo)
  • UMLS:CN199952 (MONDO:equivalentTo)
  • SCTID:719652007 (MONDO:equivalentTo)
  • DECIPHER:87 (MONDO:equivalentTo)
  • UMLS:C4304537 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3664, https://github.com/monarch-initiative/mondo/issues/3777

definition

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.

exactMatch

http://identifiers.org/snomedct/719652007, http://linkedlifedata.com/resource/umls/id/CN199952, http://purl.obolibrary.org/obo/Orphanet_163693, http://linkedlifedata.com/resource/umls/id/C4304537

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0011669

has exact synonym

Del(2)(p21), monosomy 2p21, 2p21 Microdeletion Syndrome, 2p21 deletion syndrome

id

MONDO:0015583