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loading...| Preferred Name |
Pfeiffer syndrome |
| Synonyms |
acrocephalosyndactylia type V |
| Definitions |
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14705 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:70410008 NCI:C99100 UMLS_CUI:C0220658 OMIM:101600 ORDO:710 MESH:D000168 GARD:7380 |
| definition |
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
| has exact synonym |
acrocephalosyndactylia type V |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14705 |
| in_subset | |
| label |
Pfeiffer syndrome |
| notation |
DOID:14705 |
| prefLabel |
Pfeiffer syndrome |
| subClassOf |
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