Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Dwarfism (D004392)
Parent Node: Joint Diseases (D007592)
Parent Node: Osteoarthritis (D010003)
..Starting node ..Brachydactylous dwarfism Mseleni type (C537086)
Child Nodes:
Sister Nodes:
..Brachydactylous dwarfism Mseleni type (C537086)
..Chondrocalcinosis 1 (C535938)
..Digital Arthropathy-Brachydactyly, Familial (C564656)
..Osteoarthritis with Mild Chondrodysplasia (C565740)
..Osteoarthritis, Hip (D015207)
..Osteoarthritis, Knee (D020370)
..Osteoarthritis, Spine (D055013)
..OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS (OMIM:165800)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1404
Name:	Brachydactylous dwarfism Mseleni type
Definition:
Alternative IDs:
ParentIDs:	MESH:D004392\|MESH:D007592\|MESH:D010003
TreeNumbers:	C05.116.099.343/C537086 \|C05.550.114.606/C537086 \|C05.550/C537086 \|C05.799.613/C537086 \|C16.320.240/C537086 \|C19.297/C537086
Synonyms:	Brachydactylous dwarfs of Mseleni
Slim Mappings:	Endocrine system disease\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C537086 MeSH: C537086 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants