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Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Idiopathic aplastic anemia
3 OMIM references -
5 associated genes
No signs/symptoms info
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Idiopathic aplastic anemia

IDH1
(UniProt - OMIM)
 IFNG
(UniProt - OMIM)
PRF1
(UniProt - OMIM)
SBDS
(UniProt - OMIM)
TERC
(OMIM)
TERT
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IDH1
(0.63)
SBDS


Citations in the biomedical literature:


Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
IDH1
Idiopathic aplastic anemia
IFNG PRF1 SBDS TERC TERT



Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Idiopathic aplastic anemia

Synonym(s):
(no synonyms)

Synonym(s):
- Bone marrow failure
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare hematologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: C538494
No signs/symptoms info available.