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Metaphyseal chondromatosis of humerus

MedGen UID:: 867481
•Concept ID:: C4021860
•: Anatomical Abnormality

HPO:	HP:0030298

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMetaphyseal chondromatosis of humerus

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

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

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