| Metadata | |
|---|---|
| ID | DOID:14705 |
| Name | Pfeiffer syndrome |
| Definition | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. http://www.healthline.com/galecontent/pfeiffer-syndrome, http://en.wikipedia.org/wiki/Pfeiffer_syndrome, http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome, https://www.faces-cranio.org/pfeiffer |
| Xrefs |
SNOMEDCT_US_2023_03_01:70410008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
acrocephalosyndactylia type V [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |