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Human Phenotype Ontology
Last uploaded:
August 13, 2024
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| Preferred Name | Craniofacial dysostosis | |
| Synonyms |
Crouzon syndrome |
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| Definitions |
A characteristic appearance resulting from defective ossification of craniofacial bones. Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. |
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| ID |
http://purl.obolibrary.org/obo/HP_0004439 |
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| comment |
Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future.
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| creation_date |
2008-03-18T09:58:00Z
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| database_cross_reference |
UMLS:C0010273 SNOMEDCT_US:28861008
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| definition |
A characteristic appearance resulting from defective ossification of craniofacial bones.
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| has_exact_synonym |
Crouzon syndrome
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| has_obo_namespace |
human_phenotype
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| id |
HP:0004439
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| label |
Craniofacial dysostosis
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| notation |
HP:0004439
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| prefLabel |
Craniofacial dysostosis
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| terms_creator | ||
| treeView | ||
| subClassOf |
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