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loading...| Preferred Name |
Deafness, Autosomal Recessive 1A |
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| Synonyms |
Deafness, Autosomal Recessive 1A DFNB1A |
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| Definitions |
An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129022 |
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| code |
C129022 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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| DEFINITION |
An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. |
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| FULL_SYN |
Deafness, Autosomal Recessive 1A DFNB1A |
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| label |
Deafness, Autosomal Recessive 1A |
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| Preferred_Name |
Deafness, Autosomal Recessive 1A |
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| prefixIRI |
Thesaurus:C129022 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C2673759 |
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| subClassOf |
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