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Human Disease Ontology
Last uploaded:
February 5, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_2962
http://purl.obolibrary.org/obo/DOID_2962
|
|---|---|
| Preferred Name | Cockayne syndrome |
| Definitions |
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.
Xref MGI. OMIM mapping confirmed by DO. [SN].
|
| Synonyms |
Cockayne's syndrome
Neill-Dingwall syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
Cockayne syndrome
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
Cockayne syndrome
|
| has exact match |
MESH:D003057
|
| database_cross_reference |
ICD10CM:Q87.19
UMLS_CUI:C0009207
MESH:D003057
SNOMEDCT_US_2023_03_01:205832003
GARD:6122
NCI:C9460
ORDO:191
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|
| notation |
DOID:2962
|
| in_subset | |
| has_related_synonym |
Cockayne's syndrome
|
| id |
DOID:2962
|
| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type | |
| has exact synonym |
Neill-Dingwall syndrome
|
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