loading...| Preferred Name |
Osteoporosis-pseudoglioma syndrome |
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| Synonyms |
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| Definitions |
(OPPG): A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_259770 |
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| definition |
(OPPG): A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:259770 |
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| label |
Osteoporosis-pseudoglioma syndrome |
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| notation |
OMIM:259770 |
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| prefLabel |
Osteoporosis-pseudoglioma syndrome |
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| subClassOf |