# thanatophoric dysplasia type 1

> Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly

**Wikidata**: [Q55998487](https://www.wikidata.org/wiki/Q55998487)  
**Source**: https://4ort.xyz/entity/thanatophoric-dysplasia-type-1


## References

1. Monarch Disease Ontology release 2018-06-29
2. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db0459d9-c5cc-455d-a6b2-e6ea81511336-2021-12-23T221850.458Z)
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000068078/MONDO_0008546)