loading...| Preferred Name |
craniometaphyseal dysplasia |
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| Synonyms |
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| Definitions |
An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. Xref MGI. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080033 |
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| comment |
Xref MGI. |
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| definition |
An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. |
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| hasDbXref |
OMIM:218400 OMIM:218300 OMIM:122860 OMIM:614378 OMIM:123000 OMIM:614099 ORDO:1522 |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:0080033 |
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| imported from | ||
| inSubset | ||
| label |
craniometaphyseal dysplasia |
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| prefixIRI |
DOID:0080033 |
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| prefLabel |
craniometaphyseal dysplasia |
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| subClassOf |
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