Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Chromosome 9, Partial Monosomy 9p

Also known as: 9p Partial Monosomy 9p- Syndrome, Partial Chromosome 9, Partial Monosomy 9p22 Chromosome 9, Partial Monosomy 9p22-pter Del(9p) Syndrome, Partial Deletion 9p Syndrome, Partial Distal 9p- Syndrome Distal Monosomy 9p Monosomy 9p, Partial Partial Deletion of Short Arm of Chromosome 9

NORD Rare Disease Report
Chronic Granulomatous Disease

Also known as: CGD chronic dysphagocytosis chronic granulomatous disease congenital dysphagocytosis fatal granulomatous disease of childhood granulomatosis, chronic, familial granulomatosis, septic, progressive impotent neutrophil syndrome

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NORD Rare Disease Report
Chronic Myelogenous Leukemia

Also known as: CGL chronic granulocytic leukemia chronic myelocytic leukemia chronic myeloid leukemia CML

NORD Rare Disease Report
Cicatricial Alopecia

Also known as: alopecia cicatrisata scarring alopecia scarring hair loss

NORD Rare Disease Report
Citrullinemia Type 1

Also known as: argininosuccinate synthetase deficiency argininosuccinic acid synthetase deficiency ASS deficiency citrullinemia, classic CTLN1

NORD Rare Disease Report
Classic Hereditary Hemochromatosis

Also known as: bronze diabetes classic hemochromatosis hemochromatosis type I hemosiderosis HFE-related hemochromatosis HH primary hemochromatosis

NORD Rare Disease Report
Classic Infantile CLN1 Disease

Also known as: CLN1 INCL Infantile Finnish type neuronal ceroid lipofuscinosis (Balkan disease) Infantile NCL Infantile neuronal ceroid lipofuscinosis Santavuori-Haltia Disease Santavuori disease

NORD Rare Disease Report
Cleidocranial Dysplasia

Also known as: cleidocranial dysostosis dysplasia, cleidocranial cysplasia, osteodental Marie-Sainton Disease

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NORD Rare Disease Report
Clostridial Myonecrosis

Also known as: Clostridium myonecrosis Clostridium septicum infection Clostridium perfringens infection

NORD Rare Disease Report
CLOVES Syndrome

Also known as: CLOVE syndrome

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