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Metaphyseal chondromatosis of femur

MedGen UID:: 868139
•Concept ID:: C4022530
•: Disease or Syndrome

HPO:	HP:0030295

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMetaphyseal chondromatosis of femur

Abnormality of the skeletal system
- Abnormal skeletal morphology
  - Abnormal appendicular skeleton morphology
    - Abnormal long bone morphology
      - Abnormal metaphysis morphology
        Metaphyseal enchondromatosis
        Metaphyseal chondromatosis of femur

Conditions with this feature

Genochondromatosis

MedGen UID:: 224887
•Concept ID:: C1300229
•: Disease or Syndrome

See: Condition Record

Genochondromatosis

Recent clinical studies

Prognosis

Genochondromatosis type II: report of a new patient and further delineation of the phenotype.

Isidor B, Guillard S, Hamel A, Le Caignec C, David A
Am J Med Genet A 2007 Aug 15;143A(16):1919-21. doi: 10.1002/ajmg.a.31854. PMID: 17632779

Clinical prediction guides

Metachondromatosis.

Hunter AG, Kozlowski K, Hochberger O
Can Assoc Radiol J 1995 Jun;46(3):202-8. PMID: 7538882

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Metaphyseal chondromatosis of femur
Metaphyseal chondromatosis of femur

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