Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. [ Orphanet:281 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:123450 (Orphanet:281)
  • Orphanet:281 (OMIM:123450)
  • UMLS:C0010314 (Orphanet:281)
  • GARD:0006213 (Orphanet-shared)
  • MedDRA:10011385 (Orphanet:281)
  • SCTID:70173007 (MONDO:equivalentTo)
  • UMLS:CN776901 (MONDO:equivalentTo)
  • DOID:12580 (MONDO:equivalentTo)
  • ICD9:758.31 (i2s)
  • NCIT:C34518 (MONDO:equivalentTo)
  • ICD9:758.39 (i2s)
  • ICD10:Q93.4 (Orphanet:281)
  • MESH:D003410 (Orphanet:281)
Subsets

ordo_malformation_syndrome

definition

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

exactMatch

http://identifiers.org/meddra/10011385

http://purl.obolibrary.org/obo/NCIT_C34518

http://identifiers.org/mesh/C538482

http://linkedlifedata.com/resource/umls/id/CN776901

http://identifiers.org/mesh/D003410

http://purl.obolibrary.org/obo/DOID_12580

http://linkedlifedata.com/resource/umls/id/C2931860

http://www.orpha.net/ORDO/Orphanet_281

http://linkedlifedata.com/resource/umls/id/C0010314

http://identifiers.org/snomedct/70173007

http://identifiers.org/omim/123450

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

excluded subClassOf

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

has exact synonym

Cri du chat syndrome

chromosome 5p deletion syndrome

Cri-du-chat syndrome

monosomy type 5p

Cat-Cry syndrome

5p deletion syndrome

chromosome 5 short arm deletion syndrome

deletion 5p

5p partial monosomy syndrome

has related synonym

monosomy 5p

chromosome 5p- syndrome

5p minus syndrome

chromosome 5P deletion syndrome

Cat Cry syndrome

5p- syndrome

id

MONDO:0007404