Preferred Name |
xeroderma pigmentosum |
|
Synonyms |
|
|
Definitions |
OMIM mapping confirmed by DO. [SN]. An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0050427 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
definition |
An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. |
|
hasDbXref |
NCI:C3452 MESH:D014983 UMLS_CUI:C0043346 SNOMEDCT_US_2016_03_01:44600005 ICD10CM:Q82.1 |
|
hasOBONamespace |
disease_ontology |
|
id |
DOID:0050427 |
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imported from | ||
inSubset | ||
label |
xeroderma pigmentosum |
|
prefixIRI |
DOID:0050427 |
|
prefLabel |
xeroderma pigmentosum |
|
subClassOf |
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