loading...| Preferred Name |
osteoporosis-pseudoglioma syndrome |
|
| Synonyms |
ocular form of osteogenesis imperfecta |
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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 |
|
| database_cross_reference |
NCI:C130998 SNOMEDCT_US_2023_03_01:254112001 MESH:C536063 UMLS_CUI:C0432252 GARD:4160 MIM:259770 ORDO:2788 |
|
| 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. |
|
| has exact synonym |
ocular form of osteogenesis imperfecta OPPG |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060849 |
|
| in_subset | ||
| label |
osteoporosis-pseudoglioma syndrome |
|
| notation |
DOID:0060849 |
|
| prefLabel |
osteoporosis-pseudoglioma syndrome |
|
| subClassOf |