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| Term | trichothiodystrophy | ID (Ontology) | DOID:0111866 (Human Disease) |
| Definition | A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. | ||
| Also Known As | "TTD" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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disease |__syndrome |__trichothiodystrophy 14 rec. |__nonphotosensitive trichothiodystrophy 6 rec. | |__nonphotosensitive trichothiodystrophy 4 | |__nonphotosensitive trichothiodystrophy 5 1 rec. | |__nonphotosensitive trichothiodystrophy 6 1 rec. | |__nonphotosensitive trichothiodystrophy 7 1 rec. | |__nonphotosensitive trichothiodystrophy 8 2 rec. | |__nonphotosensitive trichothiodystrophy 9 1 rec. | |__Sabinas brittle hair syndrome |__photosensitive trichothiodystrophy 8 rec. |__photosensitive trichothiodystrophy 1 1 rec. |__photosensitive trichothiodystrophy 2 1 rec. |__photosensitive trichothiodystrophy 3 1 rec. |
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| Is a | syndrome | ||
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External Crossreferences & Linkouts
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MESH:D054463 MIM:PS601675 NCI:C4924 ORDO:33364 SNOMEDCT_US_2023_03_01:723551003 UMLS_CUI:C1955934 |
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