Osteoporosis Pseudoglioma Syndrome

Preferred Label : Osteoporosis Pseudoglioma Syndrome;

Alternative definition : NICHD: An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma.;

Details

Origin ID

C130998;

UMLS CUI

C0432252;

Currated CISMeF NLP mapping
- Osteoporosis with pseudoglioma (disorder) [SNOMED CT concept]
- Osteoporosis-pseudoglioma syndrome [OMIM Phenotype]
- Osteoporosis-pseudoglioma syndrome [MedDRA Preferred Term]
- Osteoporosis-pseudoglioma syndrome [MeSH concept]
- Osteoporosis-pseudoglioma syndrome [ORDO Disease]
- osteoporosis pseudoglioma syndrome [Disease (Nov.)]
- osteoporosis-pseudoglioma syndrome [MeSH Supplementary Concept]
- osteoporosis-pseudoglioma syndrome [DO Concept]
DO Cross reference
- osteoporosis-pseudoglioma syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteoporosis with pseudoglioma (disorder) [SNOMED CT concept]
- Osteoporosis-pseudoglioma syndrome [ORDO Disease]
- Osteoporosis-pseudoglioma syndrome [OMIM Phenotype]
- Osteoporosis-pseudoglioma syndrome [MeSH concept]
- Osteoporosis-pseudoglioma syndrome [MedDRA Preferred Term]
- osteoporosis pseudoglioma syndrome [Disease (Nov.)]
- osteoporosis-pseudoglioma syndrome [DO Concept]
- osteoporosis-pseudoglioma syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- LRP5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients