Rare Disease Library

Familial isolated café-au-lait macules

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

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 cavitary optic disc anomaly

Familial CODA

Familial dilated cardiomyopathy

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

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 trichomegaly

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD