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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Osteosclerosis (D010026)
..Starting node ..Melorheostosis (D008557)
Child Nodes:
........Melorheostosis with Osteopoikilosis (C563593)
Sister Nodes:
..Axial osteosclerosis (C537792)
..Cerebellar hypoplasia with endosteal sclerosis (C535353)
..Craniofacial Dysostosis with Diaphyseal Hyperplasia (C562974)
..Distal Osteosclerosis (C565093)
..Dysosteosclerosis (C562973)
..Forney Robinson Pascoe syndrome (C537269)
..Hyperostosis Cranialis Interna (C564168)
..Melorheostosis (D008557) 1
..Mixed sclerosing bone dystrophy (C537479)
..Osteopathia striata cranial sclerosis (C536053)
..Osteopetrosis (D010022) 15
..Osteopoikilosis (D010023) 4
..Osteosclerosis with Ichthyosis and Fractures (C563483)
..Osteosclerotic Chondrodysplasia, Lethal, With Intracellular Inclusions (C566378)
..Pyknoachondrogenesis (C536251)
..Raine syndrome (C535282)
..Whyte Murphy syndrome (C536054)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6932

Name:

Melorheostosis

Definition:

A form of osteosclerosis extending in a linear track mainly through one of the long bones of the upper and lower limbs.

Alternative IDs:

OMIM:155950

ParentIDs:

MESH:D010026

TreeNumbers:

C05.116.099.708.702.593

Synonyms:

MEL |Melorheostoses |MELORHEOSTOSIS, ISOLATED |Melorheostosis of Leri

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: D008557
MeSH: D008557
OMIM: 155950;

Genes: LEMD3;

Phenotypes

1	HP:0011001	Increased bone mineral density
2	HP:0003676	Progressive
3	HP:0003745	Sporadic

Disease Causing ClinVar Variants