Rare Disease Library

Hereditary butyrylcholinesterase deficiency

Hereditary pseudocholinesterase deficiency

Hereditary cerebral amyloid angiopathy

HCHWA · Hereditary cerebral hemorrhage with amyloidosis

Hereditary clear cell renal cell carcinoma

Hereditary clear cell renal cell adenocarcinoma · Kidney cancer

Hereditary continuous muscle fiber activity

Hereditary coproporphyria

Hereditary cryohydrocytosis with normal stomatin

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

Hereditary dentin defect

Hereditary diffuse gastric cancer

FDGC · Familial diffuse cancer of stomach

Hereditary elliptocytosis

HE

Hereditary episodic ataxia

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

POIKTMP syndrome

Hereditary folate malabsorption

Congenital folate malabsorption

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 gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

Hereditary hypercarotenemia and vitamin A deficiency

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

Hereditary hypotrichosis with recurrent skin vesicles

Hereditary inclusion body myopathy type 4

HIBM4

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

Hereditary isolated aplastic anemia

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Hereditary leiomyomatosis and renal cell cancer

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

Hereditary mixed polyposis syndrome

HMPS

Hereditary motor and sensory neuropathy type 5

Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

Hereditary motor and sensory neuropathy with acrodystrophy

AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy

Hereditary motor and sensory neuropathy, Okinawa type

HMSNP · Hereditary motor and sensory neuropathy, proximal type

Hereditary mucoepithelial dysplasia

Urban-Schosser-Spohn syndrome

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Myopathy with exercise intolerance, Swedish type · ISCU-related myopathy

Hereditary neurocutaneous malformation

Hereditary neuroendocrine tumor of small intestine

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

Hereditary neuropathy with liability to pressure palsies

Current pressure-sensitive neuropathy · HNPP

Hereditary neutrophilia

Hereditary nonpolyposis colon cancer

Familial nonpolyposis colon cancer · Familial nonpolyposis colorectal cancer

Hereditary North American Indian childhood cirrhosis

Hereditary optic neuropathy

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Hereditary painful callosities

Keratosis palmoplantaris nummularis · PPK nummularis

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type · PPK, Gamborg-Nielsen type

Hereditary papillary renal cell carcinoma

HPRC · Kidney cancer