Rare Disease Database

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NORD Rare Disease Report
C Syndrome

Also known as: Opitz trigonocephaly syndrome trigonocephaly C syndrome trigonocephaly syndrome OTCS

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NORD Rare Disease Report
CADASIL

Also known as: cerebral autosomal dominant arteriopathy w/subcortical infarcts & leukoencephalopathy hereditary multi-infarct dementia


NORD Rare Disease Report
Campomelic Syndrome

Also known as: Acampomelic campomelic "Dysplasia" Campomelic Dwarfism Campomelic Dysplasia Campomelic Syndrome, Long-Limb Type Camptomelic Dwarfism Camptomelic Syndrome Camptomelic Syndrome, Long-Limb Type CMDI Dwarfism, Campomelic SRY-Box 9, SOX9 Mutations Syndrome


NORD Rare Disease Report
Camurati-Engelmann Disease

Also known as: CED diaphyseal dysplasia diaphyseal hyperostosis progressive diaphyseal dysplasia (PDD) Engelmann’s disease


NORD Rare Disease Report
Canavan Disease

Also known as: ASPA deficiency aspartoacylase deficiency Canavan's leukodystrophy Canavan-Van Bogaert-Bertrand disease spongy degeneration of the central nervous system Van Bogaert-Bertrand syndrome


NORD Rare Disease Report
CARASIL

Also known as: cerebral autosomal recessive arteriopathy w/subcortical infarcts and leukoencephalopathy Maeda syndrome


NORD Rare Disease Report
Carbamoyl Phosphate Synthetase 1 Deficiency

Also known as: carbamoylphosphatase deficiency I carbamoyl phosphate synthetase deficiency carbamylphosphatase deficiency I carbamyl phosphate synthetase I CPSID CPS1 deficiency


NORD Rare Disease Report
Carcinoid Syndrome

Also known as: carcinoid apudoma carcinoid cancer carcinoid disease functioning argentaffinoma functioning carcinoid malignant carcinoid syndrome neuroendocrine tumor carcinoid type




NORD Rare Disease Report
Carney Complex

Also known as: Carney syndrome CNC familial myxoma lentigines, atrial myxoma, and blue nevi (LAMB) syndrome nevi, atrial myxoma, myxoid neurofibromas, and ephelides (NAME) syndrome



NORD Rare Disease Report
Carnosinemia

Also known as: carnosinase deficiency


NORD Rare Disease Report
Caroli Disease

Also known as: congenital dilatation of intrahepatic bile duct congenital communicating cavernous ectasia of the intrahepatic biliary tract