Rare Disease Database

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

Camurati-Engelmann Disease

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

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

CARASIL

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

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

Carcinoid Syndrome

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

CARD9 Deficiency

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Cardiofaciocutaneous Syndrome

Also known as: cardio-facial-cutaneous syndrome CFC syndrome RASopathy

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

Carnitine Palmitoyltransferase 1A Deficiency

Also known as: CPT 1A deficiency hepatic carnitine palmitoyltransferase 1 deficiency hepatic CPT1 L-CPT1 deficiency

Carnosinemia

Also known as: carnosinase deficiency

Caroli Disease

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

Carpenter Syndrome

Also known as: ACPS II acrocephalopolysyndactyly type II

Castleman Disease

Also known as: angiofollicular lymph node hyperplasia angiomatous lymphoid Castleman tumor giant benign lymphoma giant lymph node hyperplasia hamartoma of the lymphatics

Cat Eye Syndrome

Also known as: CES chromosome 22, inverted duplication (22pter-22q11) chromosome 22, partial tetrasomy (22pter-22q11) chromosome 22, partial trisomy (22pter-22q11) Schmid-Fraccaro syndrome

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