Rare Disease Database

Catamenial Pneumothorax

Catel Manzke Syndrome

Also known as: Catel-Manzke Type Palatodigital Syndrome Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome Micrognathia-Digital Syndrome

Caudal Regression Syndrome

Also known as: caudal dysplasia caudal dysplasia caudal dysplasia sequence sacral agenesis, congenital sacral regression

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Cavernous Malformation

Also known as: cavernoma cavernous angioma cavernous hemangioma cerebral cavernous malformation (CCM)

CDKL5 Deficiency Disorder

Also known as: CDKL5 deficiency CDKL5 disorder CDKL5 encephalopathy CDKL5-related epilepsy CDKL5-related epileptic encephalopathy Early infantile epileptic encephalopathy 2 CDD STK9

Central Core Disease

Also known as: CCD CCO central core disease of muscle muscle core disease muscular central core disease myopathy, central core myopathy, central fibrillar Shy-Magee syndrome

Centronuclear Myopathy

Also known as: autosomal dominant centronuclear myopathy (AD-CNM) autosomal recessive centronuclear myopathy (AR-CNM) CNM

Cerebellar Agenesis

Also known as: cerebellar aplasia isolated cerebellar agenesis subtotal cerebellar agenesis

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Cerebral Creatine Deficiency Syndromes

Also known as: CCDS

Cerebral Folate Deficiency

Also known as: cerebral folate deficiency syndrome cerebral folate transport deficiency FOLR1 deficiency neurodegeneration due to cerebral folate transport deficiency

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Cerebrocostomandibular Syndrome

Also known as: CCMS CCM Syndrome rib gap defects with micrognathia cerebro-costo-mandibular syndrome

Cerebrotendinous Xanthomatosis

Also known as: cerebral cholesterinosis CTX sterol 27-hydroxylase deficiency

Cervical Dystonia

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

Cervical Teratoma

Also known as: primary thyroid teratoma

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