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Items: 4

1.

Multiple epiphyseal dysplasia 4

Recessive multiple epiphyseal dysplasia (EDM4/rMED) is characterized by joint pain (usually in the hips or knees); malformations of hands, feet, and knees; and scoliosis. Approximately 50% of affected individuals have an abnormal finding at birth, e.g., clubfoot, clinodactyly, or (rarely) cystic ear swelling. Onset of articular pain is variable but usually occurs in late childhood. Stature is usually within the normal range prior to puberty; in adulthood, stature is only slightly diminished and ranges from 150 to 180 cm. Functional disability is mild. [from GTR]

MedGen UID:
376164
Concept ID:
C1847593
Disease or Syndrome
2.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Rapidly involuting congenital hemangioma

MedGen UID:
698687
Concept ID:
C1275421
Neoplastic Process
4.

Source

Where something is available or from where it originates. [from NCI]

MedGen UID:
99076
Concept ID:
C0449416
Finding
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