ZFIN Human Disease: osteoporosis-pseudoglioma syndrome

OBO ID: DOID:0060849

Term Name:	osteoporosis-pseudoglioma syndrome		Search Ontology:
Synonyms:	ocular form of osteogenesis imperfecta OPPG
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. (3)
References:	GARD:4160 MESH:C536063 NCI:C130998 OMIM:259770 ORDO:2788 SNOMEDCT_US_2023_03_01:254112001 UMLS_CUI:C0432252
Ontology:	Human Disease ( DOID:0060849 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER osteoporosis-pseudoglioma syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LRP5	lrp5	Osteoporosis-pseudoglioma syndrome	259770

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None