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MIRAGE
brachydactyly type E2

Summary
Synonym
  • 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.
Super Class
brachydactyly
Disease Ontology
DOID:0110976
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5744 PTHLH parathyroid hormone like hormone
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P12272 Parathyroid hormone-related protein
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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025