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loading...| Preferred Name |
Polyostotic_Fibrous_Dysplasia_of_Bone |
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| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Polyostotic_Fibrous_Dysplasia_of_Bone |
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| ID |
C34610 |
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| NCI_Definition |
A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation. |
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| NCI_PT |
Polyostotic Fibrous Dysplasia |
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| NICHD_Definition |
_ |
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| prefixIRI |
Polyostotic_Fibrous_Dysplasia_of_Bone |
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| prefLabel |
Polyostotic_Fibrous_Dysplasia_of_Bone |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Musculoskeletal_System_Disorder |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MEDDRA/10036120 | MEDDRA | LOOM | |
| http://purl.bioontology.org/ontology/SNOMEDCT/36517007 | SNOMEDCT | LOOM | |
| http://purl.bioontology.org/ontology/ICD9CM/756.54 | ICD9CM | LOOM |