Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Synonyms

OPS

ID

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

altLabel

OPS

OSTEOGENESIS IMPERFECTA, OCULAR FORM

OPPG

cui

C0432252

Gene Locus

11q13.4

Gene Symbol

OPTA1

BMND1

EVR4

OPPG

LR3

VBCH2

LRP5

LRP7

Has manifestation

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/MTHU028459

http://purl.bioontology.org/ontology/OMIM/MTHU010323

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

259770

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536063 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536063 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0060849 Human Disease Ontology 123 LOOM