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| Term | vitamin D-dependent rickets type 2A | ID (Ontology) | DOID:0080884 (Human Disease) |
| 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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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ bone development disease | |__vitamin D-dependent rickets__| vitamin D-dependent rickets type 2A 1 rec. |
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Relationships
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| Is a |
autosomal recessive disease vitamin D-dependent rickets |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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MIM:277440 ORDO:93160 |
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