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Human Disease Ontology
Last uploaded:
November 27, 2024
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| 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_2023_03_01:70410008 MESH:D000168 UMLS_CUI:C0220658 GARD:7380 MIM:101600 NCI:C99100 ORDO:710
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|
| 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
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|
| id |
DOID:14705
|
|
| in_subset | ||
| label |
Pfeiffer syndrome
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|
| notation |
DOID:14705
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|
| prefLabel |
Pfeiffer syndrome
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| subClassOf |
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