loading...| Preferred Name |
osteoporosis-pseudoglioma syndrome |
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| Synonyms |
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| Definitions |
A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060849 |
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| definition |
A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. |
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| label |
osteoporosis-pseudoglioma syndrome |
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| prefixIRI |
DOID:0060849 |
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| prefLabel |
osteoporosis-pseudoglioma syndrome |
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