Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Alpha Thalassemia X-linked Intellectual Disability Syndrome

Also known as: ATR-X syndrome Carpenter-Waziri syndrome cerebrofaciogenital syndrome Chudley-Lowry syndrome Holmes-Gang syndrome XLID-hypotonic face syndrome X-linked intellectual disability - arch fingerprints- hypotonia syndrome

* También disponible en español

NORD Rare Disease Report
Alpha-Mannosidosis

Also known as: alpha-mannosidase B deficiency lysosomal alpha-D-mannosidase deficiency mannosidase, alpha B, lysosomal mannosidosis mannosidosis, alpha B, lysosomal

NORD Rare Disease Report
Alport Syndrome

Also known as: hematuria-nephropathy deafness (former) hemorrhagic familial nephritis (former) hereditary deafness and nephropathy (former) hereditary nephritis (former) hereditary nephritis with sensory deafness (former)

* También disponible en español

NORD Rare Disease Report
Alveolar Soft Part Sarcoma

Also known as: Alveolar sarcoma of soft parts Alveolar soft-tissue sarcoma ASPS ASP sarcoma

NORD Rare Disease Report
Ameloblastoma

Also known as: Adamantinoma Mandibular Ameloblastoma Maxillary Ameloblastoma Odontogenic Tumor

NORD Rare Disease Report
Amniotic Band Syndrome

Also known as: ABS amnion rupture sequence amniotic bands amniotic band sequence amniotic deformity, adhesions, mutilations (ADAM) complex congenital constriction rings constriction band syndrome limb body wall complex Streeter anomaly Streeter bands Streeter dysplasia

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