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Category:Rare diseases
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 | Pages in this category should be moved to subcategories where applicable. This category may require frequent maintenance to avoid becoming too large. It should directly contain very few, if any, pages and should mainly contain subcategories. |
A rare disease is technically defined as a disease that is found in fewer than 5 people per every 10,000 people.
Subcategories
This category has the following 3 subcategories, out of 3 total.
Pages in category "Rare diseases"
The following 200 pages are in this category, out of 3,234 total.
(previous page) (next page)- 10p deletion
- 11-beta-hydroxylase deficiency
- 15q13.3 microdeletion syndrome
- 16p11.2 deletion syndrome
- 17-alpha-hydroxylase deficiency
- 17-beta hydroxysteroid dehydrogenase 3 deficiency
- 17q23.1q23.2 microdeletion syndrome
- 18 Hydroxylase deficiency
- 18 trisomy
- 1q duplications
- 1q21.1 microdeletion
- 1q21.1 microdeletion syndrome
- 21 hydroxylase deficiency
- 22q11.2 deletion syndrome
- 2q23.1 microdeletion syndrome
- 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
- 3-hydroxy-3-methylglutaric aciduria
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-methylglutaconic aciduria type 5
- 3-methylglutaconic aciduria, type V
- 46,XX testicular disorder of sex development
- 47 XXX syndrome
- 47, XYY syndrome
- 47,XYY syndrome
- 48,XXXY syndrome
- 48,XYYY
- 49,XXXXX syndrome
- 4p syndrome
- 4p- syndrome
- 5-Aminolevulinic acid dehydratase deficiency porphyria
- 5p deletion syndrome
- 5q- syndrome
- 6th nerve palsy
- 7-Dehydrocholesterol reductase deficiency
- 9q- syndrome
- 9q34.3 microdeletion syndrome
- AAA syndrome
- AADH syndrome
- Aagenaes syndrome
- Abdominal retroperitoneal lymphangioma
- Ablepharon macrostomia
- Abnormal fusion of dental cementum with alveolar bone
- Abnormal tooth shape
- Abrikosov’s tumor
- Abruzzo–Erickson syndrome
- 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
- Abstract artist
- ACAD8 deficiency
- ACADS deficiency
- Acatalasemia
- Achalasia Addisonianism Alacrimia syndrome
- Achalasia alacrima syndrome
- Achalasia microcephaly syndrome
- Acheiropody, Brazilian type
- ACHP
- Acid beta-glucosidase deficiency
- Acquired hemophilia
- Acquired Von Willebrand syndrome
- Acral lentiginous melanoma
- Acrocephalo-syndactyly, type 3
- Acrocephalosyndactyly type 3
- Acrocephaly, skull asymmetry, and mild syndactyly
- Acrodermatitis enteropathica
- Acroosteolysis dominant type
- Acropectorovertebral dysplasia F form
- ACS 3
- ACS3
- ACTH resistance
- ACTH-independent macronodular adrenal hyperplasia
- Actinic LP
- Acute ackee fruit intoxication
- Acute intermittent porphyria
- Acute interstitial pneumonia
- Acute Marchiafava-Bignami disease
- Acute monoblastic leukemia
- Acute myeloid leukemia
- Acute myelomonocytic leukemia
- Acute promyelocytic leukemia
- Acute Rheumatic Fever
- Acute rheumatism
- Acyl-CoaA dehydrogenase family, member 8, deficiency of
- Adams Oliver syndrome
- Addisonian achalasia syndrome
- Adenosine Deaminase 2 deficiency
- Adenosylcobalamin deficiency
- ADOA
- Adrenal adenoma
- Adrenal cortical adenoma
- Adrenal incidentaloma
- Adrenocortical adenoma
- Adrenocortical carcinoma
- Adult-onset foveomacular vitelliform dystrophy
- Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
- Adult-onset spinal muscular atrophy
- Afibrinogenemia
- 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
- Al-Gazali-Donnai-Mueller syndrome
- ALA dehydratase deficiency pophyria
- Alacrima-achalasia-adrenal insufficiency neurologic disorder
- Albers-Schönberg osteopetrosis
- Albinism 1
- Albinism 2
- Albinism 3
- Albinism ocular late onset sensorineural deafness
- Albinism, oculocutaneous, type 2
- Albinism, oculocutaneous, type 3
- Albinism-deafness syndrome
- Albinoidism
- Albright syndrome
- Albright's disease
- ALDS
- ALG13-CDG
- ALG2-CDG (CDG-Ii)
- ALG6-CDG (CDG-Ic)
- ALG8-CDG (CDG-Ih)
- ALG9-CDG (CDG-IL)
- Allan-Herndon syndrome
- Allgrove syndrome
- Alopecia anosmia deafness hypogonadism syndrome
- Alopecia totalis
- Alpha Beta crystallinopathy (type)
- Alpha centauri
- Alpha-1 antitrypsin deficiency
- ALPHA-LCAT deficiency
- Alpha-lecithin cholesterol acyltransferase deficiency
- Alpha-N-acetylgalactosaminidase deficiency adult onset
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Alpha-thalassemia
- Alpha-thalassemia x-linked intellectual disability syndrome
- Alport syndrome
- Alström syndrome
- Altitude anoxia
- Alveolar hypoventilation syndrome
- Alves syndrome
- Alves-dos Santos-Castelo syndrome
- AMC, neurogenic type
- AMCN
- AME
- AME 1
- Amelogenesis imperfecta nephrocalcinosis
- Amino acid metabolism, inborn errors
- AML with myelodysplasia-related features
- AMN
- Amyloidosis AA
- Amyloidosis cerebral with spongiform encephalopathy
- Amyloidosis familial visceral
- Amyloidosis hereditary
- Amylopectinosis
- Amyopathic dermatomyositis
- Amyotrophic lateral sclerosis, juvenile
- Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
- Anaphylactoid purpura
- Anaplastic large cell lymphoma
- Anaplastic thyroid cancer
- Andersen cardiodysrhythmic periodic paralysis
- Andersen disease
- Anemia Diamond-Blackfan 2
- Anemia Diamond-Blackfan 3
- Anemia hereditary sideroblastic
- Anemia sex-linked hypochromic sideroblastic
- Angioedema, vibratory
- Angioimmunoblastic with dysproteinemia lymphadenopathy
- Angioma hereditary neurocutaneous
- Angiosarcoma associated with chronic lymphedema
- ANH1
- Anhidrotic ectodermal dysplasia X-linked
- Aniridia, ectopia lentis, abnormal upper incisors and mental retardation
- ANKL
- Ankyloblepharon filiforme imperforate anus
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Annular LP
- Anorchia
- Anterior uveitis
- Anthrax, skin type
- Anti-C1q vasculitis
- Antithrombin deficiency type 2
- Antithrombmin III deficiency Type II
- Anus, imperforate, with hand, foot and ear anomalies
- Aortic aneurysm syndrome, Loeys-Dietz type
- Aortic arch defects
- Aphalangy of the hands and feet, hemivertebrae, and visceral malformations
- Aphalangy with Hemivertebrae
- Aplasia cutis congenita intestinal lymphangiectasia
- Aplastic anemia
- Apocrine miliaria
