Search Ontology:
Human Disease
Sabinas brittle hair syndrome
- Term ID
- DOID:0111874
- Synonyms
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- brittle hair-mental deficiency syndrome
- trichothiodystrophy type B
- Definition
- A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. https://pubmed.ncbi.nlm.nih.gov/7325159/
- References
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- MESH:C536320
- MIM:211390
- ORDO:3123
- Ontology
- Human Disease ( DOID:0111874 )
- is a type of
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Genes Involved
Zebrafish Models