xeroderma pigmentosum group A
(Q32143704)
xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has material basis in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22
xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has material basis in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22
Language:
Current Data About
xeroderma pigmentosum group A
| (P31) |
(Q112193867)
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| (P279) |
(Q612693)
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| (P1748) |
C3965
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| (P1995) |
(Q1071953)
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| (P2293) |
(Q18032389)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0110843
http://identifiers.org/doid/DOID:0110843
http://www.orpha.net/ORDO/Orphanet_276249 http://www.orpha.net/ORDO/Orphanet_910 |
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| (P5008) |
(Q4099686)
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other details
| aliases |
XP group A xeroderma pigmentosum 1 xeroderma pigmentosum complementation group A XPA XP1 xeroderma pigmentosum, complementation group A Xeroderma Pigmentosum, Complementation Group type a xeroderma pigmentosum group type A Xp, Group a XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA XP-A |
| description | xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has material basis in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22 |
External Links
| (P492) |
278700
|
| (P699) |
DOID:0110843
|
| (P1550) |
276249
|
| (P2892) |
C0268135
C1337030 |
| (P4229) |
Q82.1
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| (P4317) |
5624
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| (P5270) |
MONDO_0010210
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| (P11430) |
DI-01155
|