loading...| Preferred Name |
Xeroderma Pigmentosum |
|
| Synonyms |
|
|
| Definitions |
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. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00039310 |
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| Database_Cross_Reference |
NCI:C3452 MEDCIN:272073 SNMI:D6-44510 SNOMEDCT_US:44600005 MSH:D014983 LCH:U005062 ICD10AM:Q82.1 ICD10:Q82.1 RCD:PH322 CHV:0000013234 DO:DOID:0050427 PDQ:CDR0000043131 SNM:M-74040 NCI_NCI-GLOSS:CDR0000046091 LCH_NW:sh85148808 SNM:D-3661 MTHICD9:757.33 DXP:U002032 CSP:1849-9833 DXP:NOCODE MDR:10048220 NDFRT:N0000003177 ICD10CM:Q82.1 |
|
| 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. |
|
| label |
Xeroderma Pigmentosum |
|
| MCID |
MC00013763 |
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| PMOID |
PMO:00039310 |
|
| prefixIRI |
pmo:PMO_00039310 |
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| prefLabel |
Xeroderma Pigmentosum |
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| Synonym |
Xeroderma pigmentosum (disorder) XERODERMA PIGMENTOSUM Atrophoderma pigmentosum Kaposi dermatosis Xeroderma pigmentosum syndrome KAPOSI DIS xeroderma pigmentosum (diagnosis) KAPOSIS DIS Angioma Pigmentosum Atrophicum Xeroderma Pigmentosum Syndrome Kaposi Disease Angioma pigmentosum atrophicum Kaposi Dermatosis XP - Xeroderma pigmentosum Kaposis Disease xeroderma pigmentosum Xeroderma of Kaposi pigmentosum xeroderma Atrophoderma Pigmentosum Xeroderma Pigmentosum [Disease/Finding] Xeroderma pigmentosum, NOS Pigmented epitheliomatosis KAPOSI DISEASE Melanosis Lenticularis Progressiva Melanosis lenticularis progressiva Pigmented Epitheliomatosis Kaposi's Disease Xeroderma pigmentosum |
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| Tree Number |
T9.14.1.40.1 T9.8.3.4.12 T9.8.4.1.11 T9.14.1.5.12 T9.11.1.17.3 T9.14.1.28.2 T9.12.10.2 T9.14.1.1.11 T9.18.2.54.1 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00039306 http://www.phoc.org.cn/pmo/class/PMO_00036738 http://www.phoc.org.cn/pmo/class/PMO_00038515 http://www.phoc.org.cn/pmo/class/PMO_00038168 http://www.phoc.org.cn/pmo/class/PMO_00039327 |