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| Term | Waardenburg syndrome | ID (Ontology) | DOID:9258 (Human Disease) |
| Definition | A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. | ||
| Also Known As | "van der Hoeve Halbertsona Waardenburg syndrome" ; "Waardenburg Shah syndrome" ; "Waardenburg's syndrome" | ||
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| Waardenburg syndrome 7 rec. |__Waardenburg syndrome type 1 5 rec. |__Waardenburg syndrome type 2A 1 rec. |__Waardenburg syndrome type 2B |__Waardenburg syndrome type 2C |__Waardenburg syndrome type 2E 1 rec. |__Waardenburg syndrome type 3 5 rec. |__Waardenburg syndrome type 4A |__Waardenburg syndrome type 4B |__Waardenburg syndrome type 4C 1 rec. |
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autosomal dominant disease syndrome |
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GARD:5525 MESH:D014849 MIM:PS193500 NCI:C75008 NCI:C85222 ORDO:3440 ORDO:895 SNOMEDCT_US_2023_03_01:1010606009 SNOMEDCT_US_2023_03_01:190695000 SNOMEDCT_US_2023_03_01:47434006 UMLS_CUI:C0079661 UMLS_CUI:C1847800 UMLS_CUI:C3266898 |
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