Category:Rare diseases
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A rare disease is technically defined (in the European Union) as a disease that is found in fewer than 5 people per every 10,000 people.
Subcategories
This category has the following 12 subcategories, out of 12 total.
Pages in category "Rare diseases"
The following 200 pages are in this category, out of 5,101 total.
(previous page) (next page)- 10p deletion
- 11-beta-hydroxylase deficiency
- 12q14 microdeletion syndrome
- 15q11.2 microdeletion
- 15q13.3 microdeletion syndrome
- 15q24 microdeletion syndrome
- 16p11.2 deletion syndrome
- 16p13.11 microduplication syndrome
- 16q24.3 microdeletion syndrome
- 17-alpha-hydroxylase deficiency
- 17-beta hydroxysteroid dehydrogenase 3 deficiency
- 17q12 duplication
- 17q23.1q23.2 microdeletion syndrome
- 17β-Hydroxysteroid dehydrogenase III deficiency
- 18 Hydroxylase deficiency
- 18 trisomy
- 1q21.1 microdeletion
- 1q21.1 microdeletion syndrome
- 2,4-Dienoyl-CoA reductase deficiency
- 2-methyl-3-hydroxybutyric aciduria
- 2-methylbutyryl-CoA dehydrogenase deficiency
- 20p12.3 microdeletion syndrome
- 21 hydroxylase deficiency
- 22q11.2 duplication syndrome
- 22q13.3 deletion syndrome
- 2q23.1 microdeletion syndrome
- 3 hydroxyisobutyric aciduria
- 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
- 3-beta-hydroxysteroid dehydrogenase deficiency
- 3-hydroxy-3-methylglutaric aciduria
- 3-Hydroxyisobutyric aciduria
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-methylglutaconic aciduria type 5
- 3-methylglutaconic aciduria, type V
- 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
- 3M syndrome
- 3MC syndrome
- 47 XXX syndrome
- 47,XYY syndrome
- 48,XXXY syndrome
- 49, XXXYY syndrome
- 49,XXXXX syndrome
- 4p syndrome
- 5-Aminolevulinic acid dehydratase deficiency porphyria
- 5-oxoprolinase deficiency
- 5p deletion syndrome
- 6th nerve palsy
- 7-Dehydrocholesterol reductase deficiency
- 8q12 microduplication syndrome
- 9q- syndrome
- 9q34.3 microdeletion syndrome
- AAA syndrome
- AADH syndrome
- Aagenaes syndrome
- ABCD syndrome
- Abdominal retroperitoneal lymphangioma
- Abnormal fusion of dental cementum with alveolar bone
- Abnormal tooth shape
- Abruzzo–Erickson syndrome
- Absence of fingerprints congenital milia
- Absence of septum pellucidum
- Absence of Tibia
- Absence or underdevelopment of the 6th and 7th cranial nerves
- Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
- ACAD8 deficiency
- ACADS deficiency
- Acanthosis nigricans - Not a rare disease
- Accessory navicular bone
- Accessory navicular bone - Not a rare disease
- Achalasia Addisonianism Alacrimia syndrome
- Achalasia alacrima syndrome
- Acheiropody, Brazilian type
- Achondrogenesis type 1A - See Achondrogenesis
- Achondrogenesis type 1B - See Achondrogenesis
- Achondrogenesis type 2 - See Achondrogenesis
- Achondroplasia
- ACHP
- Acid beta-glucosidase deficiency
- Acquired generalized lipodystrophy
- Acquired hemophilia
- Acquired Von Willebrand syndrome
- Acral lentiginous melanoma
- Acrocephalo-syndactyly, type 3
- Acrocephalosyndactyly type 3
- Acrocephaly, skull asymmetry, and mild syndactyly
- Acrodermatitis enteropathica
- Acrofacial dysostosis Catania type
- Acrofrontofacionasal dysostosis syndrome
- Acrogeria, Gottron type
- Acromesomelic dysplasia Maroteaux type
- Acromicric dysplasia
- Acroosteolysis dominant type
- Acropectorovertebral dysplasia
- Acropectorovertebral dysplasia F form
- Acrorenal mandibular syndrome
- Acro–dermato–ungual–lacrimal–tooth syndrome
- ACS 3
- ACS3
- ACTH resistance
- ACTH-independent macronodular adrenal hyperplasia
- Actinic LP
- Acute eosinophilic leukemia
- Acute intermittent porphyria
- Acute Marchiafava-Bignami disease
- Acute myelomonocytic leukemia
- Acute necrotizing encephalopathy
- Acute Rheumatic Fever
- Acute rheumatism
- Acyl-CoaA dehydrogenase family, member 8, deficiency of
- Adams Oliver syndrome
- Adams–Oliver syndrome
- ADCY5-related dyskinesia
- Addisonian achalasia syndrome
- Adenosine Deaminase 2 deficiency
- Adenosine monophosphate deaminase 1 deficiency
- Adenosylcobalamin deficiency
- ADOA
- Adrenal cortical adenoma
- Adrenal incidentaloma
- Adrenocortical carcinoma
- Adult neuronal ceroid lipofuscinosis
- Adult-onset foveomacular vitelliform dystrophy
- Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
- Adult-onset nemaline myopathy
- Adult-onset spinal muscular atrophy
- AFND
- African trypanosomiasis
- Agammaglobulinemia, non-Bruton type
- Agenesis of macula
- Agenesis of the dorsal pancreas
- Aggressive natural killer cell leukemia
- Agnathia-holoprosencephaly
- Agranulocytosis
- Agranulocytosis infantile
- Agranulocytosis, acquired
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- AHDS
- AHL
- AHLE
- Aicardi Goutieres syndrome
- Aicardi syndrome
- Aicardi–Goutières syndrome
- Ainhum
- Al Gazali Aziz Salem syndrome
- Al-Gazali-Donnai-Mueller syndrome
- ALA dehydratase deficiency pophyria
- Alacrima-achalasia-adrenal insufficiency neurologic disorder
- Alagille Syndrome
- Albinism 1
- Albinism 2
- Albinism 3
- Albinism, oculocutaneous, type 2
- Albinism, oculocutaneous, type 3
- Albinism-deafness syndrome
- Albinoidism
- Albright syndrome
- ALDS
- ALG1-CDG (CDG-Ik)
- ALG12-CDG (CDG-Ig)
- Allan-Herndon syndrome
- Allan–Herndon–Dudley syndrome
- Allgrove syndrome
- Alopecia anosmia deafness hypogonadism syndrome
- Alopecia totalis
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Alopecia-intellectual disability syndrome
- Alpha Beta crystallinopathy (type)
- Alpha-1 antitrypsin deficiency
- Alpha-ketoglutarate dehydrogenase deficiency
- ALPHA-LCAT deficiency
- Alpha-lecithin cholesterol acyltransferase deficiency
- Alpha-N-acetylgalactosaminidase deficiency adult onset
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Alpha-thalassemia x-linked intellectual disability syndrome
- Alport syndrome
- ALS Society of Canada
- Alström syndrome
- Altitude anoxia
- Alveolar hypoventilation syndrome
- Alves syndrome
- Alves-dos Santos-Castelo syndrome
- Alzheimer disease type 4
- AMC, neurogenic type
- AMCN
- AME
- AME 1
- Ameloblastic carcinoma
- Amino acid metabolism, inborn errors
- Amish lethal microcephaly
- Amish Nemaline Myopathy
- AMN
- Amyloidosis AA
- Amyloidosis cerebral with spongiform encephalopathy
- Amyloidosis hereditary
- Amylopectinosis
- Amyopathic dermatomyositis
- Amyotrophic lateral sclerosis research
- Amyotrophic lateral sclerosis type 6
- Amyotrophic lateral sclerosis, juvenile
- Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
