From HPO
Mucopolysacchariduria- MedGen UID:
- 870284
- •Concept ID:
- C4024726
- •
- Finding
Excessive amounts of mucopolysaccharide in the urine.
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.
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.
Metaphyseal dysplasia- MedGen UID:
- 1677924
- •Concept ID:
- C5194606
- •
- Disease or Syndrome
The presence of dysplastic regions in metaphyseal regions.
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Growth abnormality