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Metaphyseal chondrodysplasia, Pena type

MedGen UID:
343289
•Concept ID:
C1855195
•
Disease or Syndrome
Synonym: Metaphyseal Chondrodysplasia, Pena Type
 
Monarch Initiative: MONDO:0009596
OMIM®: 250300

Clinical features

From HPO
Metaphyseal chondrodysplasia
MedGen UID:
120528
•Concept ID:
C0265290
•
Congenital Abnormality
An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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