Meier-Gorlin syndrome

Summary
Synonym
  • ear-patella-short stature syndrome
Definition
A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.
Super Class
syndrome
Disease Ontology
DOID:0060306
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
12160 Bmp5 bone morphogenetic protein 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P49003 Bone morphogenetic protein 5

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 4, 2025