Melorheostosis, isolated

Preferred Label : Melorheostosis, isolated;

Symbol : MEL;

CISMeF acronym : MEL;

Type : Phenotype, molecular basis known;

Description : Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft tissue, including joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangiomas (review by Hellemans et al., 2004). The designation combines root words meaning 'limb,' 'flow,' and 'bone.' Melorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; 166700), a benign disorder which is caused by mutation in the;

Inheritance : Isolated cases;

Prefixed ID : #155950;

Details

Origin ID

155950;

UMLS CUI

C3149631;

Automatic exact mappings (from CISMeF team)
- RAB8A wt Allele [NCIt concept]
- Ras-Related Protein Rab-8A [NCIt concept]
Currated CISMeF NLP mapping
- Melorheostosis [NCIt concept]
- Melorheostosis [PASCAL descriptor]
- Melorheostosis [ICD-11 More detail]
- Melorheostosis [ORDO Disease]
- Melorheostosis [MedDRA Preferred Term]
- Melorheostosis (disorder) [SNOMED CT concept]
- melorheostosis [Radlex concept]
- melorheostosis [DO Concept]
- melorheostosis [Disease (Nov.)]
- melorheostosis [MeSH Descriptor]
- melorheostosis [MeSH concept]
- melorheostosis [SNOMED Notion]
DO Cross reference
- melorheostosis [DO Concept]
Genes related to phenotype
- Mitogen-activated protein kinase kinase 1 [OMIM gene]
HPO term(s)
- Hyperostosis [HPO term]
- Increased bone mineral density [HPO term]
- Progressive [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Melorheostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients