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Synovial chondromatosis, familial, with dwarfism

MedGen UID:
348836
Concept ID:
C1861304
Disease or Syndrome
Synonym: Synovial Chondromatosis, Familial, with Dwarfism
 
Monarch Initiative: MONDO:0008522
OMIM®: 186575

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

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