loading...| Preferred Name |
Cockayne syndrome |
| Synonyms |
Neill-Dingwall 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 |
ORDO:191 ICD10CM:Q87.19 GARD:6122 SNOMEDCT_US_2022_09_01:205832003 MESH:D003057 NCI:C9460 UMLS_CUI:C0009207 |
| 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. |
| 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#DO_rare_slim |
| label |
Cockayne syndrome |
| notation |
DOID:2962 |
| prefLabel |
Cockayne syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D003057 | Medical Subject Headings | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9460 | National Cancer Institute Thesaurus | LOOM |