Xeroderma pigmentosum group D
Xeroderma pigmentosum group D
Definition
Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.
Also known as ERCC2 xeroderma pigmentosum, xeroderma pigmentosum caused by mutation in ERCC2, xeroderma pigmentosum group D, xeroderma pigmentosum group type D, xeroderma pigmentosum, complementation group type D, xeroderma pigmentosum, group D, XP-D, XP4, XPD, XPDC — per MONDO
Also identified as
- DOID 0110845 per MONDO
- MESH C562591 per MONDO
- NCIT C3967 per MONDO
- OMIM 278730 per MONDO
- Orphanet 276258 per MONDO
- SCTID 68637004 per MONDO
- UMLS C0268138 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Integumental system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Skin of body | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |