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