Endosteal hyperostosis, autosomal dominant

Preferred Label : Endosteal hyperostosis, autosomal dominant;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteosclerosis, autosomal dominant; Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein 5 gene (LRP5, 603506.0015);

Prefixed ID : #144750;

Détails

Origin ID

144750;

UMLS CUI

C0432273;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant osteosclerosis, Worth type [ICD-11 More detail]
- Endosteal hyperostosis, Worth type [ORDO Disease]
- Worth disease (disorder) [SNOMED CT concept]
- Worth syndrome [DO Concept]
- Worth syndrome [MeSH concept]
- worth syndrome [MeSH Supplementary Concept]
DO Cross reference
- Worth syndrome [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 5 [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clavicular sclerosis [HPO term]
- Dental malocclusion [HPO term]
- Flat forehead [HPO term]
- Growth abnormality [HPO term]
- Hyperostosis [HPO term]
- Metacarpal diaphyseal endosteal sclerosis [HPO term]
- Metatarsal diaphyseal endosteal sclerosis [HPO term]
- Mild clavicular sclerosis [HPO term]
- Mild vertebral body sclerosis [HPO term]
- Sclerotic vertebral body [HPO term]
- Sensorineural hearing impairment [HPO term]
- Thickened cortex of long bones [HPO term]
- Torus palatinus [HPO term]
Not associated HPO term(s)
- Abnormality of body height [HPO term]
ORDO concept(s)
- Endosteal hyperostosis, Worth type [ORDO Disease]
- Hyperostosis corticalis generalisata [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant osteosclerosis, Worth type [ICD-11 More detail]
- Endosteal hyperostosis, Worth type [ORDO Disease]
- Worth disease (disorder) [SNOMED CT concept]
- Worth syndrome [MeSH concept]
- Worth syndrome [DO Concept]
- worth syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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