Medical Subject Headings

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

Osteoporosis-pseudoglioma syndrome
Synonyms

Pseudoglioma with bone fragility
ID

http://purl.bioontology.org/ontology/MESH/C536063
altLabel

Pseudoglioma with bone fragility

Osteogenesis imperfecta, ocular form
cui

C0432252
HM

D010013
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D010013
MDA

20100825
MeSH Frequency

27
MMR

20160929
notation

C536063
prefLabel

Osteoporosis-pseudoglioma syndrome
SC

3
Scope Statement

A congenital syndrome characterized by short stature, childhood-onset osteoporosis; MICROCEPHALY; severe ocular defects including blindness, MICROPHTHALMIA; pseudoglioma (intraocular opacity mimicking retinoblastoma), and intraocular calcification. Some patients may also have VENTRICULAR SEPTAL DEFECTS and neurologic symptoms. It is caused by mutations in the LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN (LRP5) gene. OMIM: 259770
TERMUI

T738120

T738124

T738123
TH

OMIM (2013)

GHR (2014)

ORD (2010)
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10052452 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10052452 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/259770 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/603506 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X78BC RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10052452 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254112001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/254112001 SCTSPA CUI
http://purl.obolibrary.org/obo/DOID_0060849 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0009820 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009820 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0060849 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060849 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060849 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/259770 OMIM LOOM
http://purl.org/skeletome/bonedysplasia#Osteoporosis-pseudoglioma_syndrome BDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130998 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0009820 DOVES LOOM
http://purl.obolibrary.org/obo/NCIT_C130998 BERO LOOM
http://www.gamuts.net/entity#osteoporosis_pseudoglioma_syndrome GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536063 RH-MESH LOOM
http://purl.jp/bio/4/id/200906039378063752 IOBC LOOM
http://www.orpha.net/ORDO/Orphanet_2788 ORDO LOOM
http://identifiers.org/omim/259770 REXO LOOM
http://identifiers.org/omim/259770 GEXO LOOM
http://identifiers.org/omim/259770 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_259770 CCO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10052452 MEDDRA LOOM