Jump to:
loading...| Preferred Name |
xeroderma pigmentosum group D |
|
| Synonyms |
XP group D |
|
| Definitions |
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0110845 |
|
| database_cross_reference |
ICD10CM:Q82.1 MIM:278730 |
|
| definition |
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. |
|
| has exact synonym |
XP group D XP8 XPDC xeroderma pigmentosum VIII XP group H XPD xeroderma pigmentosum IV XPH XP4 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0110845 |
|
| label |
xeroderma pigmentosum group D |
|
| notation |
DOID:0110845 |
|
| prefLabel |
xeroderma pigmentosum group D |
|
| subClassOf |
Create mapping