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Metadata
ID DOID:0111785
Name frontometaphyseal dysplasia
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.
https://www.ncbi.nlm.nih.gov/pubmed/12612583, https://www.ncbi.nlm.nih.gov/pubmed/15523633
Xrefs

GARD:826

MESH:C538064

OMIM:PS305620

ORDO:1826

SNOMEDCT_US_2021_03_01:62803002

UMLS_CUI:C0265293

Synonyms

FMD [EXACT]

Parent Relationships

is_a otopalatodigital syndrome spectrum disorder

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