Link to this page
Mondo Disease Ontology
| Preferred Name | Cri-du-chat syndrome | |
| Synonyms |
monosomy 5p chromosome 5P deletion syndrome Cat Cry syndrome 5p- syndrome 5p minus syndrome chromosome 5p- syndrome monosomy type 5p 5p deletion syndrome deletion 5p Cri du Chat Syndrome Cri-du-chat syndrome 5p partial monosomy syndrome chromosome 5p deletion syndrome chromosome 5 short arm deletion syndrome Cat-Cry syndrome Cri du chat syndrome |
|
| Definitions |
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. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007404 |
|
| comment |
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
|
|
| database_cross_reference |
OMIM:123450 ICD9:758.31 SCTID:70173007 icd11.foundation:620584190 NORD:1015 Orphanet:281 NANDO:2200961 MedDRA:10011385 ICD9:758.39 NCIT:C34518 UMLS:C0010314 MEDGEN:41345 GARD:6213 DOID:12580 DECIPHER:2 NANDO:1200684 MESH:D003410
|
|
| 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.
|
|
| excluded_from_qc_check |
http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql |
|
| has_exact_synonym |
monosomy type 5p 5p deletion syndrome deletion 5p Cri du Chat Syndrome Cri-du-chat syndrome 5p partial monosomy syndrome chromosome 5p deletion syndrome chromosome 5 short arm deletion syndrome Cat-Cry syndrome Cri du chat syndrome
|
|
| has_related_synonym |
monosomy 5p chromosome 5P deletion syndrome Cat Cry syndrome 5p- syndrome 5p minus syndrome chromosome 5p- syndrome
|
|
| IAO_0000233 | ||
| id |
MONDO:0007404
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
Cri-du-chat syndrome
|
|
| notation |
MONDO:0007404
|
|
| prefLabel |
Cri-du-chat syndrome
|
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/medgen/41345 http://purl.obolibrary.org/obo/DOID_12580 http://purl.obolibrary.org/obo/Orphanet_281 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/620584190 http://purl.obolibrary.org/obo/NCIT_C34518 http://linkedlifedata.com/resource/umls/id/C0010314 |
|
| treeView | ||
| excluded subClassOf | ||
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |