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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/144750
http://purl.bioontology.org/ontology/OMIM/144750
|
|---|---|
| Preferred Name | ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT |
| Synonyms |
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS
OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS
OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
|
|---|---|
| prefLabel | ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
|
| Gene Symbol |
OPPG
PCLD4
LR3
LRP7
BMND1
OPTA1
EVR4
LRP5
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| Scope Statement | Onset of disease in late childhood [MISCELLANEOUS]
Caused by mutation in the low density lipoprotein receptor-related protein 5 gene (LRP5, 603506.0015) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q13.4
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 144750
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0432273
|
| Moved from | 607636
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |