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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 4,407 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 deletion syndrome
- 17q12 duplication
- 17q23.1q23.2 microdeletion syndrome
- 18 Hydroxylase deficiency
- 18 trisomy
- 19p13.12 microdeletion syndrome
- 1q duplications
- 1q21.1 microdeletion
- 1q21.1 microdeletion syndrome
- 1q44 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
- 21-hydroxylase deficiency
- 22q11.2 deletion syndrome
- 22q11.2 duplication syndrome
- 22q13.3 deletion syndrome
- 2p15p16.1 microdeletion syndrome
- 2q23.1 microdeletion syndrome
- 2q37 deletion syndrome
- 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
- 3-beta-hydroxysteroid dehydrogenase deficiency
- 3-hydroxy-3-methylglutaric aciduria
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-Hydroxyisobutyric aciduria
- 3-methylglutaconic aciduria type 5
- 3-methylglutaconic aciduria, type V
- 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
- 3M syndrome
- 3MC syndrome
- 46,XX testicular disorder of sex development
- 47 XXX syndrome
- 47, XYY syndrome
- 47,XYY syndrome
- 48,XXXY syndrome
- 48,XYYY
- 49, XXXYY syndrome
- 49,XXXXX syndrome
- 4p syndrome
- 4p- syndrome
- 5-Aminolevulinic acid dehydratase deficiency porphyria
- 5-oxoprolinase deficiency
- 5p deletion syndrome
- 5q- 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
- Abdominal chemodectomas with cutaneous angiolipomas
- Abdominal retroperitoneal lymphangioma
- Ablepharon macrostomia
- 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 of tibia with polydactyly
- 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
- Acanthosis nigricans - Not a rare disease
- Acanthosis nigricans muscle cramps acral enlargement
- Acatalasemia
- Accessory deep peroneal nerve
- Accessory navicular bone
- Accessory navicular bone - Not a rare disease
- Achalasia Addisonianism Alacrimia syndrome
- Achalasia alacrima syndrome
- Achalasia microcephaly syndrome
- Acheiropodia
- 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
- Acrocallosal syndrome, Schinzel type
- Acrocapitofemoral dysplasia
- Acrocephalo-syndactyly, type 3
- Acrocephalopolydactyly
- Acrocephalosyndactyly type 3
- Acrocephaly, skull asymmetry, and mild syndactyly
- Acrodermatitis enteropathica
- Acrodysplasia scoliosis
- Acrofacial dysostosis Catania type
- Acrofacial dysostosis Palagonia type
- Acrofacial dysostosis Rodriguez type
- Acrofrontofacionasal dysostosis syndrome
- Acrogeria, Gottron type
- Acromegaloid facial appearance syndrome
- Acromesomelic dysplasia Hunter Thompson type
- Acromesomelic dysplasia Maroteaux type
- Acromicric dysplasia
- Acroosteolysis dominant type
- Acropectorovertebral dysplasia F form
- Acrorenal mandibular syndrome
- ACS 3
- ACS3
- ACTH resistance
- ACTH-independent macronodular adrenal hyperplasia
- Actinic LP
- Acute ackee fruit intoxication
- Acute disseminated encephalomyelitis
- 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
- Adactylia unilateral
- Adams Oliver syndrome
- ADCY5-related dyskinesia
- Addisonian achalasia syndrome
- Adenosine Deaminase 2 deficiency
- Adenosine monophosphate deaminase 1 deficiency
- Adenosylcobalamin deficiency
- Adenylosuccinase deficiency
- ADOA
- Adrenal adenoma
- Adrenal cortical adenoma
- Adrenal incidentaloma
- Adrenocortical adenoma
- Adrenocortical carcinoma
- Adult neuronal ceroid lipofuscinosis
- Adult T-cell leukemia/lymphoma
- Adult-onset foveomacular vitelliform dystrophy
- Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
- Adult-onset nemaline myopathy
- Adult-onset spinal muscular atrophy
- Advanced sleep phase syndrome, familial
- Afibrinogenemia
- AFND
- African trypanosomiasis
- Agammaglobulinemia, non-Bruton type
- Agenesis of macula
- Agenesis of the dorsal pancreas
- Aggressive natural killer cell leukemia
- Agnathia-holoprosencephaly
- Agnosia
- Agranulocytosis
- Agranulocytosis infantile
- Agranulocytosis, acquired
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- AHDS
- AHL
- AHLE
- Aicardi Goutieres syndrome
- Aicardi syndrome
- AIDS Dementia Complex
- Ainhum
- Al Gazali Aziz Salem syndrome
- Al Gazali Sabrinathan Nair syndrome
- Al-Gazali-Donnai-Mueller syndrome
- ALA dehydratase deficiency pophyria
- Alacrima-achalasia-adrenal insufficiency neurologic disorder
- Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
- 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
- ALG1-CDG (CDG-Ik)
- ALG11-CDG (CDG-Ip)
- ALG12-CDG (CDG-Ig)
