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Disease Browser
Parent Node: Calcinosis (D002114)
Parent Node: Osteomalacia (D010018)
..Starting node ..Osteomalacia, Sclerosing, with Cerebral Calcification (C564916)
Child Nodes:
Sister Nodes:
..Axial osteomalacia (C537791)
..Osteomalacia, Sclerosing, with Cerebral Calcification (C564916)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8415

Name:

Osteomalacia, Sclerosing, with Cerebral Calcification

Definition:

Alternative IDs:

ParentIDs:

MESH:D002114|MESH:D010018

TreeNumbers:

C05.116.198.816.640/C564916 |C18.452.174.130/C564916 |C18.452.174.845.640/C564916 |C18.654.521.500.133.770.734.640/C564916

Synonyms:

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Nutrition disorder

Reference:

MedGen: C564916
MeSH: C564916
OMIM: 259660;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008497	Congenital craniofacial dysostosis
3	HP:0006647	Congenital microthorax
4	HP:0005849	Diffuse cerebral calcification
5	HP:0005789	Generalized osteosclerosis
6	HP:0011001	Increased bone mineral density
7	HP:0002749	Osteomalacia

Disease Causing ClinVar Variants