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loading...| Preferred Name |
Bart-Pumphrey syndrome |
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| Synonyms |
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS |
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| Definitions |
A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050658 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
MIM:149200 |
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| definition |
A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. |
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| has exact synonym |
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0050658 |
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| label |
Bart-Pumphrey syndrome |
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| notation |
DOID:0050658 |
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| prefLabel |
Bart-Pumphrey syndrome |
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| subClassOf |
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