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AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK83985/") obo:IAO_0000115 obo:DOID_0050445 "A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK83985/") obo:IAO_0000115 obo:DOID_0050445 "A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.")
# Class: obo:DOID_0060271 (pontocerebellar hypoplasia type 2E)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24577744/") Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/615851") obo:IAO_0000115 obo:DOID_0060271 "A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_incompound heterozygous mutation in the VPS53 gene on chromosome 17p13.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24577744/") Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/615851") obo:IAO_0000115 obo:DOID_0060271 "A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.nhlbi.nih.gov/health/congenital-heart-defects") obo:IAO_0000115 obo:DOID_1682 "A heart disease that is characterized by problems with the heart’s structure that are present at birth.")
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.nhlbi.nih.gov/health/congenital-heart-defects") obo:IAO_0000115 obo:DOID_1682 "A heart disease that is characterized by problems with the heart's structure that are present at birth.")
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