Human Disease Ontology 123

Last uploaded: September 28, 2023

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	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0060849
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	osteoporosis-pseudoglioma syndrome
notation	DOID:0060849
prefLabel	osteoporosis-pseudoglioma syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050737

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/259770	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C536063	Medical Subject Headings	LOOM