Symbol
Name
ID

Mthfr
methylenetetrahydrofolate reductase
MGI:106639

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

Abnormal digit morphology

Short middle phalanx of the 5th finger

Clinodactyly of the 5th finger

Interphalangeal joint erosions

Finger dactylitis

Swan neck-like deformities of the fingers

Sandal gap

Clinodactyly

Polydactyly

Brachydactyly

Abnormal femoral metaphysis morphology

Abnormal tibial metaphysis morphology

Abnormal metaphysis morphology

Short palm

Shallow acetabular fossae

Pedal edema

Foot dorsiflexor weakness

Lower limb muscle weakness

Upper limb muscle weakness

Single transverse palmar crease

Bilateral single transverse palmar creases

Broad palm

Dupuytren contracture

Abnormality of the elbow

Limited elbow movement

Disease(s) Associated with MTHFR

amyotrophic lateral sclerosis

Down syndrome

factor VIII deficiency

familial mediterranean fever

graft-versus-host disease

hypopituitarism

osteosarcoma

rheumatoid arthritis

sickle cell anemia

tetralogy of Fallot

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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