Preferred Name |
Costello syndrome |
|
Synonyms |
Faciocutaneoskeletal Syndrome |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0050469 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
OMIM:218040 MESH:D056685 SNOMEDCT_US_2020_03_01:205803001 UMLS_CUI:C0587248 GARD:1550 NCI:C84652 |
|
has exact synonym |
Faciocutaneoskeletal Syndrome FCS SYNDROME |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050469 |
|
imported from | ||
in_subset | ||
label |
Costello syndrome |
|
notation |
DOID:0050469 |
|
prefLabel |
Costello syndrome |
|
textual definition |
A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. |
|
subClassOf |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
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