| Metadata | |
|---|---|
| ID | DOID:0111866 |
| Name | trichothiodystrophy |
| 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. https://ghr.nlm.nih.gov/condition/trichothiodystrophy, https://pubmed.ncbi.nlm.nih.gov/18603627/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:723551003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
TTD [EXACT] |
| Parent Relationships |
is_a syndrome |