- Niemann-Pick Disease Type C.
- Phenylketonuria (PKU)
- Pompe Disease.
- Progressive Familial Intrahepatic Cholestasis.
- Propionic Acidemia.
- Severe Combined Immune Deficiency (SCID)
- Urea Cycle Disorders.
- Vanishing White Matter Disease.
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47, XXX (Trisomy X) · 47, XXY (Klinefelter Syndrome) · 48, XXYY Syndrome · 5,10 – Methenyltetrahydrofolate Synthetase Deficiency · Aarskog Syndrome.
Rare Diseases · Achondrogenesis · Aicardi Syndrome · Asphyxiating Thoracic Dystrophy (Jeune Syndrome) · Bloom Syndrome (Congenital Telangiectatic Erythema) · Chediak ...
Feb 15, 2023 · When we speak of diseases, regular lifestyle diseases like hypertension, diabetes, migraine or even chronic ones like cancer and stroke come ...
Feb 29, 2024 · 1. Stoneman Syndrome · 2. Alice In Wonderland Syndrome (AIWS) · 3. Hutchinson-Gilford Progeria Syndrome (HGPS) · 4. Alkaptonuria · 5. Chronic Focal ...
Rare Disease Database · Acquired Aplastic Anemia · Acquired Hemophilia · Acquired Lipodystrophy · Acquired Neuromyotonia · Acrocallosal Syndrome, Schinzel Type.
Dec 11, 2023 · What are Some Rarest Diseases in the World? · Hutchinson-Gilford Progeria Syndrome (HGPS) or Premature Aging · Foreign Accent Syndrome (FAS).
What are the most common rare diseases? · Ehlers –Danlos Syndrome (EDS) · Sickle Cell · Cystic Fibrosis · Duchenne Muscular Dystrophy (DMD) · Haemophilia.
Jan 15, 2016 · 10 Most Rare Diseases · 1) Progressive Multifocal Leukoencephalopathy (PML) · 2) Paraneoplastic Neurologic Syndromes (PNS) · 3) Dercum's Disease.
Over six to seven thousand rare diseases have been discovered and these diseases are serious, often chronic and progressive. There is no cure for most of rare ...