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 |
SNOMEDCT_US_2023_03_01:62803002 |
Subsets |
DO_rare_slim |
Synonyms |
FMD [EXACT] |
Parent Relationships |