Rare Disease Library

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Familial isolated clinodactyly of fingers

Familial isolated congenital asplenia

Familial isolated dilated cardiomyopathy

Familial or idiopathic dilated cardiomyopathy

Familial isolated hyperparathyroidism

FIHPT

Familial isolated hypoparathyroidism

Familial isolated pituitary adenoma

FIPA

Familial isolated restrictive cardiomyopathy

Familial or idiopathic restrictive cardiomyopathy

Familial isolated retinal arteriolar tortuosity

Retinal arteriolar tortuosity · Retinal hemorrhage with vascular tortuosity

Familial isolated trichomegaly

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

Isolated idiopathic anterior uveitis

Isolated IAU