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tricho-dento-osseous syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
Uniprot Description An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology.
Mondo Term and Equivalent IDs
MONDO:0008592:  tricho-dento-osseous syndrome
DOID:0111565: 
GARD:0005252: 
GARD:0007799: 
MESH:C536549: 
Orphanet:3352: 
SCTID:38993008: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)