Disease Index

Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting

human disease

human disease

Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term)

instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome

instance of partial epilepsy that is caused by an inherited modification of the individual's genome

lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life

familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body

familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has material basis in mutation in the LMNA gene on chromosome 1q21

familial partial lipodystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the PPARG gene on chromosome 3p25

human disease

familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the CIDEC gene on chromosome 3p25

familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the LIPE gene on chromosome 19q13

human disease

human disease

human disease

human disease

medical condition

human disease

potassium levels in samples stored below 37B0C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.

Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision

Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules

human disease

Human disease

instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome

human disease