Trichodentoosseous syndrome

Preferred Label : Trichodentoosseous syndrome;

Symbol : TDO;

CISMeF acronym : TDO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tdo syndrome;

Description : Trichodentoosseous syndrome is an autosomal dominant disorder with complete penetrance characterized by abnormalities involving hair, teeth, and bone (summary by Nguyen et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the distal-less homeo box-3 gene (DLX3, 600525.0001);

Prefixed ID : #190320;

Details

Origin ID

190320;

UMLS CUI

C0265333;

Automatic exact mappings (from CISMeF team)
- Tricho- dento-osseous syndrome [PASCAL descriptor]
- Tricho-dento-osseous syndrome [ICD-11 More detail]
- Tryptophan 2,3-Dioxygenase [NCIt concept]
- diagnostic techniques, ophthalmological [MeSH Descriptor]
- trichodontoosseous syndrome [DO Concept]
- tryptophan 2,3-dioxygenase [ORDO Gene]
- tryptophan 2,3-dioxygenase [HGNC gene]
- tryptophan 2,3-dioxygenase activity [GO term]
Currated CISMeF NLP mapping
- Tricho-dento-osseous syndrome [MeSH concept]
- Tricho-dento-osseous syndrome [ORDO Disease]
- Tricho-dento-osseous syndrome (disorder) [SNOMED CT concept]
- tricho-dento-osseous syndrome [MeSH Supplementary Concept]
- tricho-dento-osseous syndrome [SNOMED Notion]
DO Cross reference
- trichodontoosseous syndrome [DO Concept]
Genes related to phenotype
- Distal-less homeobox 3 [OMIM gene]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormality of the mastoid [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dolichocephaly [HPO term]
- Fragile nails [HPO term]
- Frontal bossing [HPO term]
- Increased bone mineral density [HPO term]
- Microdontia [HPO term]
- Small, widely spaced teeth [HPO term]
- Taurodontia [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Tricho-dento-osseous syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tricho-dento-osseous syndrome [ORDO Disease]
- Tricho-dento-osseous syndrome [MeSH concept]
- Tricho-dento-osseous syndrome (disorder) [SNOMED CT concept]
- tricho-dento-osseous syndrome [MeSH Supplementary Concept]
- tricho-dento-osseous syndrome [SNOMED Notion]
- trichodontoosseous syndrome [DO Concept]

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