Disease browser and phenotype portal

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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: Bone Diseases, Metabolic (D001851)
Parent Node: Calcium Metabolism Disorders (D002128)
Parent Node: Vitamin D Deficiency (D014808)
..Starting node ..Rickets (D012279)
Child Nodes:
........Hypophosphatemic Rickets, Autosomal Dominant (C562791)
........Osteomalacia (D010018) 2
........Renal Osteodystrophy (D012080)
........Rickets, Hypophosphatemic (D063730) 11
Sister Nodes:
..Rickets (D012279) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9862
Name:	Rickets
Definition:	Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances.
Alternative IDs:
ParentIDs:	MESH:D001851\|MESH:D002128\|MESH:D014808
TreeNumbers:	C05.116.198.816 \|C18.452.174.845 \|C18.654.521.500.133.770.734
Synonyms:	Rachitides \|Rachitis
Slim Mappings:	Metabolic disease\|Musculoskeletal disease\|Nutrition disorder
Reference:	MedGen: D012279 MeSH: D012279 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants