loading...| Preferred Name | vitamin D-dependent rickets type 2A | |
| Synonyms |
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| Definitions |
A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080884 |
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| database_cross_reference |
OMIM:277440 ORDO:93160 |
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| definition |
A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0080884 |
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| in_subset | ||
| label |
vitamin D-dependent rickets type 2A |
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| notation |
DOID:0080884 |
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| note |
A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. |
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| preferred label |
vitamin D-dependent rickets type 2A |
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| prefLabel |
vitamin D-dependent rickets type 2A |
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| subClassOf |