Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Cervical Dystonia

Also known as: focal dystoniaidiopathic cervical dystonia isolated (formally primary) cervical dystonia spasmodic torticollis spasmodic wryneck torticollis

NORD Rare Disease Report
Chanarin-Dorfman Syndrome

Also known as: Chanarin-Dorfman disease neutral lipid storage disease type I CGI58 deficiency disorder of cornification 12 (neutral lipid storage type) DOC 12 (neutral lipid storage type) Dorfman Chanarin syndrome ichthyosiform erythroderma with leukocyte vacuolation ichthyotic neutral lipid storage disease triglyceride storage disease impaired long-chain fatty acid oxidation CDS

NORD Rare Disease Report
Chandler’s Syndrome

Also known as: iridocorneal endothelial syndrome iris atrophy with corneal edema and glaucoma

NORD Rare Disease Report
Charcot-Marie-Tooth Disease

Also known as: CMT hereditary motor and sensory neuropathy (HMSN) peroneal muscular atrophy distal hereditary motor neuropathy (dHMN) hereditary sensory neuropathy (HSN or HSAN) distal spinal muscular atrophy (DSMA)

NORD Rare Disease Report
CHARGE Syndrome

Also known as: CHARGE association Hall-Hittner syndrome coloboma, heart, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies

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NORD Rare Disease Report
Chediak Higashi Syndrome

Also known as: Begnez-Cesar's Syndrome Chediak-Steinbrinck-Higashi Syndrome CHS Leukocytic Anomaly Albinism Natural Killer Lymphocytes, Defect in Oculocutaneous Albinism, Chediak-Higashi Type

NORD Rare Disease Report
Chiari Frommel Syndrome

Also known as: Frommel-Chiari Syndrome Lactation-Uterus Atrophy Postpartum Galactorrhea-Amenorrhea Syndrome

NORD Rare Disease Report
Chiari Malformations

Also known as: Arnold-Chiari Malformation (ACM) CM Hindbrain Herniation Tonsillar Ectopia

NORD Rare Disease Report
Chikungunya

Also known as: Arbovirus A Chikungunya Type CHIK CK

NORD Rare Disease Report
Cholangiocarcinoma

Also known as: bile duct adenocarcinoma biliary tract cancer

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NORD Rare Disease Report
Cholera

Also known as: Asiatic Cholera Epidemic Cholera

NORD Rare Disease Report
Cholesteryl Ester Storage Disease

Also known as: acid cholesteryl ester hydrolase deficiency, type 2 CESD cholesterol ester hydrolase deficiency LAL deficiency, CESD type

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NORD Rare Disease Report
Chordoma

Also known as: clival chordoma familial chordoma intracranial chordoma sacrococcygeal chordoma skull base chordoma spinal chordoma

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