Search Ontology:
Human Disease
brachydactyly type E2
- Term ID
- DOID:0110976
- Synonyms
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- BDE2
- Definition
- A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (2)
- References
- Ontology
- Human Disease ( DOID:0110976 )
- is a type of
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