loading...| Preferred Name |
Osteoporosis-pseudoglioma syndrome |
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| Synonyms |
OPPG |
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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://identifiers.org/omim/259770 |
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| altLabel |
OPPG |
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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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| id |
OMIM:259770 |
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| notation |
OMIM:259770 |
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| prefLabel |
Osteoporosis-pseudoglioma syndrome |
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| subClassOf |