loading...| Preferred Name |
Costello syndrome |
|
| Synonyms |
congenital myopathy with excess of muscle spindles Costello syndrome faciocutaneoskeletal syndrome FCS syndrome CSTLO myopathy, congenital, with excess of muscle spindles |
|
| Definitions |
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009026 |
|
| closeMatch | ||
| database_cross_reference |
NCIT:C84652 MedDRA:10067380 Orphanet:3071 UMLS:C0587248 GARD:1550 NORD:1011 MESH:D056685 ICD9:799.89 SCTID:309776008 OMIM:218040 DOID:0050469 |
|
| definition |
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. |
|
| exactMatch |
http://identifiers.org/mesh/D056685 http://linkedlifedata.com/resource/umls/id/C0587248 http://purl.obolibrary.org/obo/NCIT_C84652 http://identifiers.org/snomedct/309776008 http://purl.obolibrary.org/obo/DOID_0050469 |
|
| has_exact_synonym |
congenital myopathy with excess of muscle spindles Costello syndrome faciocutaneoskeletal syndrome FCS syndrome |
|
| has_related_synonym |
CSTLO myopathy, congenital, with excess of muscle spindles |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5682 |
|
| id |
MONDO:0009026 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#clingen http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
Costello syndrome |
|
| notation |
MONDO:0009026 |
|
| prefLabel |
Costello syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome |
|
| excluded_subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 |