Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Antley-Bixler Syndrome

Also known as: ABS craniosynostosis, choanal atresia, radial humeral synostosis trapezoidocephaly-multiple synostosis syndrome

NORD Rare Disease Report
Apert Syndrome

Also known as: acrocephalosyndactyly, type I ACS1

NORD Rare Disease Report
Aplasia Cutis Congenita

Also known as: ACC Congenital Defect of the Skull and Scalp Congenital ulcer of the newborn Scalp Defect Congenital

NORD Rare Disease Report
Appendiceal Cancer and Tumors

Also known as: low grade mucinous neoplasm of the appendix (LAMN) high grade mucinous neoplasms of the appendix (HAMN) mucinous adenocarcinoma of the appendix adenocarcinoma of the appendix signet ring cell cancer of the appendix goblet cell carcinoid cystadenocarcinoma nonmucinous adenocarcinoma colonic type adenocarcinoma

NORD Rare Disease Report
Arginase-1 Deficiency

Also known as: hyperargininemia arginase deficiency

* También disponible en español

NORD Rare Disease Report
Argininosuccinic Aciduria

Also known as: arginino succinase deficiency argininosuccinate lyase deficiency argininosuccinate acid lyase deficiency ASA ASL deficiency

* También disponible en español

NORD Rare Disease Report
Arteritis, Takayasu

Also known as: Aorta Arch Syndrome Brachiocephalic Ischemia Idiopathic Arteritis of Takayasu Martorell Syndrome Occlusive Thromboaortopathy Pulseless Disease Reverse Coarction Takayasu Disease Young Female Arteritis

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