loading...| Preferred Name |
osteoporosis-pseudoglioma syndrome |
| Synonyms |
ocular form of osteogenesis imperfecta |
| 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060849 |
| database_cross_reference |
UMLS_CUI:C0432252 MESH:C536063 SNOMEDCT_US_2022_09_01:254112001 NCI:C130998 GARD:4160 OMIM: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 |