loading...| Preferred Name |
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 |
| Synonyms |
OPTA1 |
| ID |
http://purl.bioontology.org/ontology/OMIM/607634 |
| altLabel |
OPTA1 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I |
| cui |
C1843330 |
| Gene Locus |
11q13.4 |
| Gene Symbol |
PCLD4 OPTA1 BMND1 EVR4 OPPG LR3 VBCH2 LRP5 LRP7 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002969 http://purl.bioontology.org/ontology/OMIM/MTHU002968 http://purl.bioontology.org/ontology/OMIM/MTHU002970 http://purl.bioontology.org/ontology/OMIM/MTHU002966 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU002972 http://purl.bioontology.org/ontology/OMIM/MTHU036348 http://purl.bioontology.org/ontology/OMIM/MTHU002967 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
607634 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 |
| Scope Statement |
Genetic heterogeneity (see 166600) [MISCELLANEOUS] Progressive sclerosis with age [MISCELLANEOUS] Allelic to osteoporosis-pseudoglioma syndrome (259770), van Buchem type 2 (607636), high bone mass (601884), autosomal dominant endosteal hyperostosis (144750) [MISCELLANEOUS] Caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (LRP5, 603506.0014) [MOLECULAR BASIS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536056 | Medical Subject Headings / 医学主题词表 | CUI |