Preferred Name |
Cockayne syndrome |
|
Synonyms |
Neill-Dingwall syndrome Cockayne's syndrome |
|
Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. |
|
ID |
http://purl.obolibrary.org/obo/DOID_2962 |
|
comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
ICD10CM:Q87.19 UMLS_CUI:C0009207 MESH:D003057 SNOMEDCT_US_2023_03_01:205832003 GARD:6122 NCI:C9460 ORDO:191 |
|
has exact match |
MESH:D003057 |
|
has exact synonym |
Neill-Dingwall syndrome |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
has_related_synonym |
Cockayne's syndrome |
|
id |
DOID:2962 |
|
in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
label |
Cockayne syndrome |
|
notation |
DOID:2962 |
|
prefLabel |
Cockayne syndrome |
|
textual definition |
A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. |
|
subClassOf |