Preferred Name |
Costello syndrome |
|
Synonyms |
|
|
Definitions |
OMIM mapping confirmed by DO. [SN]. A syndrome 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]. |
|
definition |
A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. |
|
hasDbXref |
SNOMEDCT_US_2016_03_01:309776008 SNOMEDCT_US_2016_03_01:205803001 UMLS_CUI:C0587248 NCI:C84652 MESH:D056685 OMIM:218040 |
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hasExactSynonym |
FCS SYNDROME Faciocutaneoskeletal Syndrome |
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hasOBONamespace |
disease_ontology |
|
id |
DOID:0050469 |
|
imported from | ||
label |
Costello syndrome |
|
prefixIRI |
DOID:0050469 |
|
prefLabel |
Costello syndrome |
|
subClassOf |
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