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Standards Ontologies Notations
frontometaphyseal dysplasia

Summary
Synonym
  • FMD
Definition
An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.
Super Class
otopalatodigital syndrome spectrum disorder
Disease Ontology
DOID:0111785
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6885 MAP3K7 mitogen-activated protein kinase kinase kinase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
26409 Map3k7 mitogen-activated protein kinase kinase kinase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
313121 Map3k7 mitogen activated protein kinase kinase kinase 7
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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: December 9, 2024