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.
A
C
I
M
P
S
Pages in category "Rare diseases"
The following 200 pages are in this category, out of 5,947 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
- 5q14.3 microdeletion 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 body parts
- 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
- Acral myxoinflammatory fibroblastic sarcoma
- Acrocapitofemoral dysplasia
- 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, epilepsy, pyorrhea, mental subnormality
- 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
- Ameloonychohypohidrotic syndrome
- Amino acid metabolism, inborn errors
- Amish lethal microcephaly
- Amish Nemaline Myopathy
- AMN
- Amyloidosis AA
- Amyloidosis cerebral with spongiform encephalopathy
- Amyloidosis hereditary
