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 ]
Term information
- 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)
ordo_malformation_syndrome
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.
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
http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
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
monosomy 5p
chromosome 5p- syndrome
5p minus syndrome
chromosome 5P deletion syndrome
Cat Cry syndrome
5p- syndrome