OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

OPS

http://purl.bioontology.org/ontology/OMIM/259770

OPS

OSTEOGENESIS IMPERFECTA, OCULAR FORM

OPPG

C0432252

11q13.4

PCLD4

OPTA1

BMND1

EVR4

OPPG

LR3

VBCH2

LRP5

LRP7

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU036382

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU009295

http://purl.bioontology.org/ontology/OMIM/MTHU037383

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU010318

http://purl.bioontology.org/ontology/OMIM/MTHU010313

http://purl.bioontology.org/ontology/OMIM/MTHU010311

http://purl.bioontology.org/ontology/OMIM/MTHU003103

http://purl.bioontology.org/ontology/OMIM/MTHU010315

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU010321

http://purl.bioontology.org/ontology/OMIM/MTHU037818

http://purl.bioontology.org/ontology/OMIM/MTHU010319

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU010316

http://purl.bioontology.org/ontology/OMIM/MTHU010310

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU010320

http://purl.bioontology.org/ontology/OMIM/MTHU032464

http://purl.bioontology.org/ontology/OMIM/MTHU010312

Phenotype description, molecular basis known.

259770

3

pound

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Onset of bone fragility in childhood [MISCELLANEOUS]

Caused by mutations in the low density lipoprotein receptor-related protein-5 gene (LRP5, 603506.0001) [MOLECULAR BASIS]

T047