Search Ontology:
Human Disease
frontometaphyseal dysplasia
- Term ID
- DOID:0111785
- Synonyms
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- 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. (2)
- References
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- GARD:826
- MESH:C538064
- MIM:PS305620
- ORDO:1826
- SNOMEDCT_US_2023_03_01:62803002
- UMLS_CUI:C0265293
- Ontology
- Human Disease ( DOID:0111785 )
- is a type of
-
- has subtype
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Other Pages
Genes Involved
Zebrafish Models