Osteoporosis-pseudoglioma syndrome

Preferred Label : Osteoporosis-pseudoglioma syndrome;

Symbol : OPPG;

CISMeF acronym : OPPG; OPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteogenesis imperfecta, ocular form; OPS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the low density lipoprotein receptor-related protein-5 gene (LRP5, 603506.0001);

Prefixed ID : #259770;

Details

Origin ID

259770;

UMLS CUI

C0432252;

Automatic exact mappings (from CISMeF team)
- LDL receptor related protein 5 [ORDO Gene]
- LRP5 wt Allele [NCIt concept]
- Osteoporosis - pseudoglioma [ICD-11 More detail]
- symbol withdrawn OPPG [HGNC gene]
Currated CISMeF NLP mapping
- Osteoporosis Pseudoglioma Syndrome [NCIt concept]
- Osteoporosis with pseudoglioma (disorder) [SNOMED CT concept]
- Osteoporosis-pseudoglioma syndrome [MedDRA Preferred Term]
- Osteoporosis-pseudoglioma syndrome [MeSH concept]
- Osteoporosis-pseudoglioma syndrome [ORDO Disease]
- osteoporosis pseudoglioma syndrome [Disease (Nov.)]
- osteoporosis-pseudoglioma syndrome [DO Concept]
- osteoporosis-pseudoglioma syndrome [MeSH Supplementary Concept]
DO Cross reference
- osteoporosis-pseudoglioma syndrome [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 5 [OMIM gene]
HPO term(s)
- Absent anterior chamber of the eye [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Blindness [HPO term]
- Cataract [HPO term]
- Generalized hypotonia [HPO term]
- Glioma [HPO term]
- Hypotonia [HPO term]
- Increased susceptibility to fractures [HPO term]
- Intellectual disability, mild [HPO term]
- Iris atrophy [HPO term]
- Joint hypermobility [HPO term]
- Kyphoscoliosis [HPO term]
- Metaphyseal widening [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Osteoporosis [HPO term]
- Pathologic fracture [HPO term]
- Phthisis bulbi [HPO term]
- Platyspondyly [HPO term]
- Short stature [HPO term]
- Ventricular septal defect [HPO term]
- Vitreoretinopathy [HPO term]
ORDO concept(s)
- Osteoporosis-pseudoglioma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteoporosis Pseudoglioma Syndrome [NCIt concept]
- Osteoporosis with pseudoglioma (disorder) [SNOMED CT concept]
- Osteoporosis-pseudoglioma syndrome [MedDRA Preferred Term]
- Osteoporosis-pseudoglioma syndrome [ORDO Disease]
- Osteoporosis-pseudoglioma syndrome [MeSH concept]
- osteoporosis pseudoglioma syndrome [Disease (Nov.)]
- osteoporosis-pseudoglioma syndrome [MeSH Supplementary Concept]
- osteoporosis-pseudoglioma syndrome [DO Concept]

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