Rare Disease Library

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Autosomal dominant keratitis

Hereditary keratitis

Benign hereditary chorea

BHC · Benign familial chorea

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Enlarged parietal foramina

Catlin marks · Fenestrae parietales symmetricae

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial hypercholanemia

Hereditary hypercholanemia

Familial thrombocytosis

Familial thrombocythemia · Hereditary thrombocythemia

Hereditary amyloidosis

Hereditary angioedema

Familial angioneurotic edema · HAE

Hereditary angioedema type 1

HAE · HAE 1

Hereditary angioedema type 2

HAE · HAE 2

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

Hereditary coproporphyria

Hereditary dentin defect

Hereditary elliptocytosis

HE

Hereditary fructose intolerance

Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

Hereditary gastric cancer

Hereditary cancer of stomach

Hereditary geniospasm

Familial trembling of the chin · Hereditary chin myoclonus

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Hereditary neuroendocrine tumor of small intestine

Small intestine hereditary neuroendocrine tumor · Hereditary neuroendocrine tumor of small bowel

Hereditary neutrophilia

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary poikiloderma

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

Hereditary retinoblastoma

Hereditary spherocytosis

Minkowski-Chauffard disease

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Hereditary xanthinuria

Classic xanthinuria · Xanthic urolithiasis

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Milroy disease

Hereditary lymphedema type I · Nonne-Milroy lymphedema

Neuroferritinopathy

Adult basal ganglia disease · Ferritin-related neurodegeneration

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

Rare hereditary thrombophilia

Southeast Asian ovalocytosis

Hereditary ovalocytosis · Melanesian elliptocytosis