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loading...| Preferred Name |
Pfeiffer syndrome |
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| Synonyms |
acrocephalosyndactylia type V |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14705 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
OMIM:101600 SNOMEDCT_US_2023_03_01:70410008 MESH:D000168 UMLS_CUI:C0220658 GARD:7380 NCI:C99100 ORDO:710 |
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| has exact synonym |
acrocephalosyndactylia type V |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:14705 |
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| in_subset | ||
| label |
Pfeiffer syndrome |
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| notation |
DOID:14705 |
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| prefLabel |
Pfeiffer syndrome |
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| textual definition |
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
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| subClassOf |
Create mapping