Rare Disease Database

Rare Disease Database

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
POMC Deficiency

Also known as: obesity due to pro-opiomelanocortin deficiency POMC obesity, adrenal insufficiency and red hair due to POMC deficiency obesity, early-onset, with adrenal insufficiency and red hair (OBAIRH) proopiomelanocortin deficiency

* También disponible en español

NORD Rare Disease Report
Pompe Disease

Also known as: glycogen storage disease type II (GSD II) acid maltase deficiency (AMD) acid alpha-glucosidase (GAA) deficiency

* También disponible en español

NORD Rare Disease Report
Pontocerebellar Hypoplasia

Also known as: arginyl-tRNA synthetase 2 (RARS2) cerebellar atrophy with progressive microcephaly, (CLAM) encephalopathy, fatal infantile, with olivopontocerebellar hyperplasia fetal-onset olivopontocerebellar hypoplasia olivopontocerebellar hypoplasia, fetal-onset PCH with optic atrophy pontocerebellar hypoplasia, type 1 (PCH1) pontocerebellar hypoplasia, type 2A (PCH2A) pontocerebellar hypoplasia, type 2B (PCH2B) pontocerebellar hypoplasia, type 2C (PCH2C) pontocerebellar hypoplasia, type 3 (PCH3) pontocerebellar hypoplasia, type 4 (PCH4) pontocerebellar hypoplasia, type 5 (PCH 5) pontocerebellar hypoplasia, type 6 (PCH6) pontocerebellar hypoplasia with anterior horn cell disease pontocerebellar hypoplasia with infantile spinal muscular atrophy pontocerebellar hypoplasia with progressive cerebral atrophy volendam neurodegenerative disease

NORD Rare Disease Report
Porphyrias

* También disponible en español

NORD Rare Disease Report
Post Polio Syndrome

Also known as: Polio, Late Effects Post-Polio Muscular Atrophy Postpoliomyelitis syndrome Post-Polio Sequelae

NORD Rare Disease Report
Potter Syndrome

Also known as: oligohydramnios sequence Potter sequence

NORD Rare Disease Report
Prader-Willi Syndrome

Also known as: Prader-Labhart-Willi syndrome PWS Willi-Prader syndrome

* También disponible en español

  2. 1
  3. 2
  4. 3
  5. 4
  6. 5
  7. 6
  8. 7
  9. 8
  10. 9