| ISA | CONGENITAL-ANOMALY SKIN-DISEASE |
| ANCESTORS | ALL CHANGE-STATE CHANGE-STATE-ANIMAL CONGENITAL-ANOMALY DISEASE-EVENT EVENT LIVING-EVENT PHYSICAL-EVENT SKIN-DISEASE |
| xeroderma pigmentosum | number: singular reliability code: 10 term type: main entry term definition: very rare genetic defect in ultraviolet radiation induced DNA repair mechanisms, It is characterized by severe sensitivity to all sources of UV radiation (especially sunlight). Symptoms include blindness and deafness, blistering on minimum sun exposure, and developmental disabilities. (en) part of speech: noun |
| xeroderma pigmentosum | definition: defecto genético muy raro en los mecanismos de inducción de la reparación de ADN. Se caracteriza por una alta sensibilidad a las fuentes de radiación ultravioleta (especialmente la luz solar). Los principales síntomas son ceguera, sordera, reacción cutánea a los rayos solares y problemas del desarrollo. (es) gender: masculine number: singular part of speech: noun reliability code: 10 term type: main entry term |