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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: Diseases (C)
Parent Node: Split hand foot deformity (C535777)
Parent Node: Split-Hand Foot Malformation 2 (C564056)
..Starting node ..SPLIT-HAND/FOOT MALFORMATION 2 (OMIM:313350)
Child Nodes:
Sister Nodes:
..SPLIT-HAND/FOOT MALFORMATION 2 (OMIM:313350)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10550

Name:

SPLIT-HAND/FOOT MALFORMATION 2

Definition:

Alternative IDs:

ParentIDs:

MESH:C535777|MESH:C564056

TreeNumbers:

C05.660.585/C535777/313350 |C05.660.585/C564056/313350 |C16.131.621.585/C535777/313350 |C16.131.621.585/C564056/313350 |C16.320.322/C564056/313350

Synonyms:

SHFD2 |SHFM2 |SHSF2 |SPLIT-HAND/FOOT DEFORMITY 2 |SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: 313350
MeSH: 313350
OMIM: 313350;

Genes: SHFM2;

Phenotypes

Disease Causing ClinVar Variants