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| Term | Usher syndrome type 1 | ID (Ontology) | DOID:0110826 (Human Disease) |
| Definition | An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. | ||
| Also Known As | "US1" ; "USH1" | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease__ syndrome_____________________| Usher syndrome |__Usher syndrome type 1 8 rec. |__Usher syndrome type 1B 1 rec. |__Usher syndrome type 1C 1 rec. |__Usher syndrome type 1D 2 rec. |__Usher syndrome type 1E |__Usher syndrome type 1F 1 rec. |__Usher syndrome type 1G 1 rec. |__Usher syndrome type 1H |__Usher syndrome type 1J 2 rec. |__Usher syndrome type 1K |
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| Is a | Usher syndrome | ||
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External Crossreferences & Linkouts
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GARD:5435 ICD10CM:H35.5 MIM:276900 NCI:C126327 ORDO:231169 UMLS_CUI:C1568247 |
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