Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615085
http://purl.bioontology.org/ontology/OMIM/615085
Preferred Name

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
Synonyms
OPTB8
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
OPTB8
prefLabel
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
Gene Symbol
OPTB8
SNX10
Scope Statement
Caused by mutation in the sorting nexin 10 gene (SNX10, 614780.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU040945
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU040944
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU040940
http://purl.bioontology.org/ontology/OMIM/MTHU021761
http://purl.bioontology.org/ontology/OMIM/MTHU040941
http://purl.bioontology.org/ontology/OMIM/MTHU040947
http://purl.bioontology.org/ontology/OMIM/MTHU002106
http://purl.bioontology.org/ontology/OMIM/MTHU000212
http://purl.bioontology.org/ontology/OMIM/MTHU040948
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU036648
http://purl.bioontology.org/ontology/OMIM/MTHU040942
http://purl.bioontology.org/ontology/OMIM/MTHU040939
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU040943
http://purl.bioontology.org/ontology/OMIM/MTHU037047
http://purl.bioontology.org/ontology/OMIM/MTHU040946
http://purl.bioontology.org/ontology/OMIM/MTHU002606
See more
See less
tui
T047
Gene Locus
7p15.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615085
Semantic type UMLS property
Has inheritance type
cui
C3554478
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display