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Items: 3

1.

Congenital nongoitrous hypothryoidism 6

Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene. [from MONDO]

MedGen UID:
482447
Concept ID:
C3280817
Disease or Syndrome
2.

X-linked intellectual disability-short stature-overweight syndrome

X-linked intellectual developmental disorder-12 (XLID12) is characterized by borderline to severe intellectual disability with variable neurologic features, short stature, and elevated body mass index (BMI) (Kumar et al., 2015). [from OMIM]

MedGen UID:
901885
Concept ID:
C0796218
Disease or Syndrome
3.

Increased body mass index

Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. [from HPO]

MedGen UID:
472957
Concept ID:
C0231254
Finding
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