::Help
Enter your requested disease name, gene symbol, or code depending on your selection in the query zone and click OK to validate.
You may use truncated names. A list of all diseases or genes matching your query will appear. Select the one of interest to you.
Each disease is described by a name, synonyms and relevant keywords. Each gene is described by its name in English and its symbol(s). Diseases and genes are cross referenced.
Each disease is also defined by its OMIM number(s), its ICD code(s) and its Orpha number :
- OMIM is the database of mendelian phenotypes and genes created by Dr. McKusick
- ICD-10 is the 10th International Classification of Diseases established by World Health Organisation
- The Orpha number refers to the Orphanet classification of diseases
::Warning
The provided information is based on published scientific articles. Disease profiles are expert-authored and peer-reviewed texts. These general texts may not apply to specific cases, due to the extensive variability of disease expression. Some information may look shocking. It is of the utmost importance to check if the provided information is relevant or not to a specific case.
Information in Orphanet is updated on a regular basis. It may happen that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is always indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.
Orphanet aims to provide rare disease information to healthcare professionals, patients, and their relatives, in order to contribute improving the diagnosis, care and treatment of these diseases. Information in Orphanet is not intended to replace professional health care.
Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.
1107 Result(s)
- AAE
- Aagenaes syndrome
- Aarskog-like syndrome
- Aarskog-Ose-Pande syndrome
- Aarskog-Scott syndrome
- Aase-Smith II syndrome
- Aase-Smith I syndrome
- Aase-Smith syndrome
- Aase syndrome
- ABCB4 gene mutation-associated cholelithiasis
- ABCD syndrome
- Abdominal aortic aneurysm, familial form
- Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia
- Ablepharon macrostomia syndrome
- Abnormal eye movements
- Abruzzo-Erickson syndrome
- ABSD
- Absence of tibia
- Absence of vagina
- Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit
- Absent testes, congenital
- Acalvaria
- Acanthamoeba keratitis
- Acanthocytic disorder
- Acanthocytosis
- Acanthocytosis
- Acanthosis nigricans
- Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
- Acatalasemia
- Accelerated skeletal maturation - peculiar facies - failure to thrive
- Accessory breasts
- Accessory pancreas
- Aceruloplasminemia
- Acetyl-CoA alpha-glucosaminide-N-acetyl transferase deficiency
- Achalasia - addisonianism - alacrima syndrome
- Achalasia-alacrimia syndrome
- Achalasia, esophageal, familial
- Achalasia - microcephaly
- Achalasia, primary
- Achalasia, sporadic form
- Acheiropodia
- Acheiropody
- Achondrogenesis
- Achondrogenesis, type 1A
- Achondrogenesis, type 1B
- Achondrogenesis, type 2
- Achondroplasia
- Achondroplasia and FGFR3 anomaly
- Achondroplasia and Swiss-type agammaglobulinemia
- Achondroplasia - severe combined immunodeficiency
- Achromatopsia
- Achromatopsia, atypical, X linked
- Achromatopsia incomplete, X-linked
- Acid beta-glucosidase deficiency
- Acid maltase deficiency
- Acid phosphatase deficiency
- Acitretin embryofetopathy
- Ackee fruit, acute intoxication
- Ackerman dermatitis syndrome
- Ackerman syndrome
- Aconitase deficiency
- Acoustic neurinoma
- Acoustic neuroma
- ACPS III
- ACPS with leg hypoplasia
- Acquired alimentary behavior disorder of infancy
- Acquired amyloid myopathy
- Acquired amyloid peripheral neuropathy
- Acquired angioedema
- Acquired anterior horn cell disease
- Acquired aplastic anemia
- Acquired bradykinine-induced angioedema
- Acquired chronic primary adrenal insufficiency
- Acquired coagulation defect
- Acquired embryofetopathy
- Acquired hemophagocytic lymphohistiocytosis associated with a malignant disease
- Acquired hypoprothrombinemia
- Acquired inflammatory myopathy and fasciitis
- Acquired kinky hair syndrome
- Acquired lipoatrophic diabates
- Acquired lipodystrophy
- Acquired motoneuron disease
- Acquired myastenia
- Acquired neuromuscular junction disease
- Acquired neutropenia
- Acquired non histamine-induced angioedema
- Acquired nonimmune hemolytic disease
- Acquired or genetic aplastic anemia
- Acquired peripheral neuropathy
- Acquired pituitary hormone deficiency
- Acquired platelet function disease
- Acquired platelet function disease associated with a liver disease
- Acquired platelet function disease associated with antiplatelet antibodies
- Acquired platelet function disease associated with dysproteinemia
- Acquired platelet function disorder associated with acute leukemia and myelodysplastic syndrome
- Acquired platelet function disorder associated with a myeloproliferative disease
- Acquired premature ovarian failure
- Acquired prothrombin deficiency
- Acquired rippling muscle disease
- Acquired rod-body myopathy
- Acquired sensory ganglionopathy
- Acquired sensory neuronopathy
- Acquired skeletal muscle disease
- Acrania
- Acrocallosal syndrome, Schinzel type
- Acrocapitofemoral dysplasia
- Acrocardiofacial syndrome
- Acrocephalopolysyndactyly, type 2 (ACPS 2)
- Acrocephalopolysyndactyly type 3
- Acrocephalopolysyndactyly, type 4 (ACPS 4)
- Acrocephalosyndactyly
- Acrocephalosyndactyly type 1
- Acrocephalosyndactyly type 3
- Acrocephalosyndactyly type 5
- Acro-cephalo synostosis
- Acrocraniofacial dysostosis
- Acro-dento-osteo-dysplasia
- Acrodermatitis continua suppurativa of Hallopeau
- Acrodermatitis enteropathica, zinc deficiency type
- Acro-Dermato-Ungual-Lacrimal-Tooth syndrome
- Acrodysostosis
- Acrodysostosis, postaxial
- Acrodysostosis, preaxial
- Acrodysplasia
- Acrodysplasia scoliosis
- Acrofacial dysostosis, autosomal recessive
- Acrofacial dysostosis, Catania type
- Acrofacial dysostosis, Genee-Wiedmann type
- Acrofacial dysostosis, Kennedy-Teebi type
- Acrofacial dysostosis, Nager type
- Acrofacial dysostosis, palagonia type
- Acrofacial dysostosis, postaxial
- Acrofacial dysostosis, Rodriguez type
- Acrofacial dysostosis, Weyers type
- Acro-fronto-facio-nasal dysostosis
- Acrokeratoderma
- Acrokeratoelastoidosis of Costa
- Acrokeratosis paraneoplastica
- Acrokeratosis verruciformis of Hopf
- Acromegaloid facial appearance syndrome
- Acromegaloid facies - hypertrichosis
- Acromegaly
- Acromegaly - cutis verticis gyrata - corneal leukoma
- Acromegaly, infantile and juvenile forms
- Acromelanosis
- Acromelic dysplasia
- Acromesomelic dwarfism
- Acromesomelic dysplasia
- Acromesomelic dysplasia brahimi bacha type
- Acromesomelic dysplasia, Grebe type
- Acromesomelic dysplasia, Hunter-Thomson type
- Acromesomelic dysplasia, Maroteaux type
- Acromicric dysplasia
- Acroosteolysis dominant type
- Acroosteolysis, neurogenic
- Acro-pectoral syndrome
- Acro-pectoro-renal field defect
- Acropectorovertebral dysplasia
- Acropigmentation of Dohi
- Acrorenal defect - ectodermal dysplasia - diabetes
- Acro-renal-mandibular syndrome
- Acro-renal-ocular syndrome
- Acrorenal syndrome
- ACRP syndrome
- ACS 1
- ACS 3
- ACS 5
- ACTH deficiency, isolated
- ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia
- ACTH independent Cushing syndrome due to unilateral tumor
- ACTH-independent macronodular adrenal hyperplasia
- ACTH resistance
- Actinic porokeratosis, disseminated superficial
- Actinic porokeratosis, disseminated superficial, type I
- Actinic porokeratosis, disseminated superficial, type II
- Actin myopathy
- Action myoclonus - renal failure syndrome
- Acute and subacute inflammatory demyelinating polyneuropathy
- Acute and subacute inflammatory demyelinating polyradiculoneuropathy
- Acute cutaneous lupus erythematosus
- Acute inflammatory demyelinating polyradiculoneuropathy
- Acute interstitial pneumonia
- Acute leukemia of indeterminate lineage
- Acute liver failure
- Acute lung injury
- Acute medullary lesions
- Acute motor axonal neuropathy
- Acute motor-sensory axonal neuropathy
- Acute myeloblastic leukemia, type 1
- Acute myeloblastic leukemia, type 2
- Acute myeloblastic leukemia, type 3
- Acute myeloblastic leukemia, type 5
- Acute myeloblastic leukemia, type 6
- Acute myeloblastic leukemia, type 7
- Acute myelodysplasia with myelofibrosis
- Acute myelofibrosis
- Acute myelogenous leukemia
- Acute myeloid leukemia with recurrent genetic anomaly
- Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
- Acute myelosclerosis
- Acute non-lymphoblastic leukemia
- Acute panmyelosis with myelofibrosis
- Acute peripheral arterial occlusion
- Acute Respiratory Distress Syndrome, adult
- Acute respiratory distress syndrome, Infant
- Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma
- Acute tubulointerstitial nephritis and uveitis syndrome
- ACY1D
- Acyl-CoA dehydrogenase 9 deficiency
- Acyl-CoA dehydrogenase, long chain, deficiency of
- Acyl-CoA dehydrogenase, medium chain, deficiency of
- Acyl-CoA dehydrogenase, very long chain, deficiency of
- Acyl coa oxydase deficiency
- Adactylia unilateral
- Adamantinoma
- Adams-Oliver syndrome
- ADANE
- ADCA
- ADCA1
- ADCA2
- ADCA3
- ADCME
- Addison-Biermer anemia
- Addison disease
- Addison's disease, autoimmune type
- Addison's disease, classical type
- Addison's disease, primary
- Adducted thumbs - arthrogryposis, Christian type
- Adducted thumbs-arthrogryposis, Dundar type
- ADEM
- Adenine phosphoribosyltransferase deficiency
- Adenosine deaminase deficiency
- Adenosine monophosphate deaminase deficiency
- Adenosine triphosphatase deficiency, anemia due to
- Adenosylcobalamin deficiency
- Adenovirus infection in immunocompromised patients
- Adenylosuccinase deficiency
- Adenylosuccinate lyase deficiency
- Adhesive arachnoiditis
- AD-HIES
- Adiposis dolorosa
- Adiposogenital dystrophy
- ADL
- ADLTE
- ADNFLE
- Adolescent benign focal crisis
- Adolescent-onset epilepsy syndrome
- ADPEAF
- ADP platelet receptor P2Y12, deficiency of
- Adrenal adenoma, familial
- Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
- Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic form
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, nonclassic form
- Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Adrenal hyperplasia, congenital, due to cytochrome P450 oxydoreductase (POR) deficiency
- Adrenal hypoplasia, congenital, cytomegalic
- Adrenal hypoplasia, congenital, of maternal cause
- Adrenal hypoplasia, congenital, X-linked
- Adrenal hypoplasia, familial
- Adrenal incidentaloma
- Adrenal insufficiency, acute
- Adrenal insufficiency, chronic, acquired
- Adrenal insufficiency, chronic, primary
- Adrenal tumor
- Adrenocortical adenoma
- Adrenocortical carcinoma
- Adrenogenital syndrome
- Adrenoleukodystrophy, neonatal
- Adrenoleukodystrophy, X-linked
- Adrenoleukodystrophy, X-linked, cerebral form
- Adrenomyeloneuropathy
- Adrenomyodystrophy
- ADSL deficiency
- Adult intestinal botulism
- Adult NCL
- Adult neuronal ceroid lipofuscinosis
- Adult-onset autosomal dominant leukodystrophy
- Adult onset nemaline myopathy
- Adult-onset proximal spinal muscular atrophy, autosomal dominant
- Adult polyglucosan body disease
- ADULT syndrome
- Advanced sleep-phase syndrome, familial
- AEC syndrome
- African iron overload
- African tick typhus
- African trypanosomiasis
- Agammaglobulinemia
- Agammaglobulinemia, alymphocytotic type
- Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
- Aganglionosis total intestinal
- Agenesis and aplasia of uterine body
- Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
- Aggressive cutaneous B-cell lymphoma
- Aggressive cutaneous T-cell lymphoma
- Aggressive fibromatosis
- Aglossia - adactylia
- AGM2
- Agnathia - holoprosencephaly - situs inversus
- Agnogenic myeloid metaplasia
- Agonadism - dextrocardia - diaphragmatic hernia
- AHDS
- Ahn-Lerman-Sagie syndrome
- aHUS
- Aicardi-Goutieres syndrome
- Aicardi syndrome
- AIDS wasting syndrome
- AIMAH
- Akaba-Hayasaka syndrome
- Akesson syndrome
- Alacrima, congenital, isolated
- Alagille syndrome
- Åland Island eye disease
- Alanine-glyoxylate aminotransferase deficiency (hyperoxaluria type 1)
- Alar cartilages hypoplasia - coloboma - telecanthus
- Al Awadi-Farag-Teebi syndrome
- Al-Awadi-Raas-Rothschild syndrome
- Albers-Schonberg osteopetrosis
- Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness
- Albinism-deafness syndrome
- Albinism ocular - late onset sensorineural deafness
- Albinism partial - immunodeficiency
- Albright hereditary osteodystophy (AHO) - PPHP
- Albright héréditary osteodystophy (AHO) - PPHP
- Albright hereditary osteodystrophy
- Albright hereditary osteodystrophy 3
- Albright hereditary osteodystrophy (AHO) - PHP Ia
- Albright hereditary osteodystrophy-like syndrome
- Alcock syndrome
- Alcohol antenatal infection
- Alcohol-responsive dystonia
- Aldolase A deficiency
- Aldosterone synthase deficiency
- Aldred syndrome
- Alexander disease
- Al Frayh-Facharzt-Haque syndrome
- Al Gazali-Aziz-Salem syndrome
- Al-Gazali-Dattani syndrome
- Al Gazali-Donnai-Muller syndrome
- al Gazali-Lytle syndrome
- Al Gazali-Nair syndrome
- Algodystrophy
- Alkaptonuria
- Allagille-Watson syndrome
- Allain-Babin-Demarquez syndrome
- Allan-Herndon-Dudley syndrome
- Allergic bronchopulmonary aspergillosis
- Allgrove syndrome
- Alloimmune hemolytic disease of the fetus and newborn
- Alobar holoprosencephaly
- Alopecia
- Alopecia - anosmia - deafness - hypogonadism
- Alopecia antibody deficiency
- Alopecia - congenita keratosis palmoplantaris
- Alopecia - contractures - dwarfism - intellectual deficit
- Alopecia - deafness - hypogonadism
- Alopecia-epilepsy-oligophrenia syndrome, Moynahan type
- Alopecia- epilepsy - pyorrhea - mental subnormality
- Alopecia - hypogonadism - extrapyramidal disorder
- Alopecia - intellectual deficit - hypogonadism
- Alopecia-intellectual deficit syndrome
- Alopecia - progressive neurological defect - endocrinopathy
- Alopecia totalis
- Alopecia universalis
- Alpers-Huttenlocher syndrome
- Alpers progressive sclerosing poliodystrophy
- Alpers syndrome
- Alpha-1-antichymotrypsin deficiency
- Alpha-1 antitrypsin and alpha-1-antichymotrypsin deficiencies
- Alpha-1 antitrypsin deficiency
- Alpha-cristallinopathy
- Alpha-dystroglycanopathy
- Alpha-galactosidase A deficiency
- Alpha-granule disease
- Alpha heavy-chain disease
- Alpha-ketoglutarate dehydrogenase deficiency
- Alpha-L-fucosidase deficiency
- Alpha-L-iduronidase deficiency
- Alpha-mannosidosis
- Alpha methyl acetoacetyl-CoA Thiolase deficiency
- Alpha-methyl-acyl-CoA racemase deficiency
- Alpha-N-acetylgalactosaminidase deficiency, adult-onset
- Alpha-N-acetylgalactosaminidase deficiency, type 1
- Alpha-N-acetylgalactosaminidase deficiency, type 2
- Alpha-N-acetylgalactosaminidase deficiency, type 3
- Alpha-sarcoglycanopathy
- Alpha-thalassemia
- Alpha thalassemia-intellectual deficit syndrome
- Alpha thalassemia - intellectual deficit, X-linked
- Alport deafness-nephropathy
- Alport syndrome
- Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
- Alport syndrome with leukocyte inclusions and macrothrombocytopenia
- Alport syndrome with macrothrombocytopenia
- ALS
- ALSG
- Alström syndrome
- Alternating hemiplegia
- Alternating hemiplegia in childhood
- Alternating hemiplegia of childhood
- Alveolar capillary dysplasia with misalignment of pulmonary veins
- Alveolar capillary dysplasia with misalignment of pulmonary vessels
- Alveolar echinococcosis
- Alveolar rhabdomyosarcoma
- Alveolar soft-part sarcoma
- Alves-dos Santos-Castelo syndrome
- Alzheimer disease, familial
- Alzheimer disease, type 1
- Alzheimer disease, type 2
- Alzheimer disease, type 3
- AMAN
- Amastia
- Amaurosis congenita of Leber
- Amaurosis - hypertrichosis
- Ambiguous genitalia - normal Mullerian development
- Ambras syndrome
- Amegakaryocytic thrombocytopenia, congenital
- Amelia, autosomal recessive
- Amelo-cerebro-hypohidrotic syndrome
- Amelogenesis imperfecta
- Amelogenesis imperfecta, hypocalcified type
- Amelogenesis imperfecta, hypomaturation-hypoplastic with taurodontism
- Amelogenesis imperfecta, hypomaturation type
- Amelogenesis imperfecta, hypoplastic type
- Amelogenesis imperfecta - nephrocalcinosis
- Amelogenesis imperfecta, type 2
- Amelogenesis imperfecta, type 3
- Amelogenesis imperfecta, type 4
- Amelogenesis imperfecta, type I
- Amelo-onycho-hypohidrotic syndrome
- American trypanosomiasis
- Amino acid or protein metabolism disease
- Amino acid transport disease
- Aminoaciduria, Hartnup type
- Aminoaciduria, hyperdibasic, type 1
- Aminopterin embryofetopathy
- Amish brittle hair syndrome
- Amish infantile epilepsy syndrome
- Amish nemaline myopathy
- AMME complex
- AMME syndrome
- Ammonia detoxification-urea cycle defect
- Amniotic bands
- Amoebiasis due to Entamoeba histolytica
- Amoebiasis due to free-living amoebae
- AMP deaminase deficiency
- Ampola syndrome
- AMSAN
- Amylo-1,6-glucosidase deficiency
- Amyloid lichen
- Amyloid nephropathy, familial
- Amyloidosis
- Amyloidosis AA
- Amyloidosis AL
- Amyloidosis beta2-microglobulinic
- Amyloidosis, hereditary, Finnish type
- Amyloidosis immunoglobulinic
- Amyloidosis, inflammatory
- Amyloidosis, Ostertag type
- Amyloidosis, primary
- Amyloidosis, reactive
- Amyloidosis, secondary
- Amyloid precursor protein (APP) amyloid angiopathy, hereditary
- Amylopectinosis
- Amyoplasia congenita
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis, hemiplegic type
- Amyotrophic lateral sclerosis-parkinsonism-dementia complex
- Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam
- Amyotrophic lateral sclerosis with frontotemporal dementia
- Amyotrophy - fat tissue anomaly
- Anaphylactoid purpura
- Anaplastic large cell lymphoma
- Anauxetic dysplasia
- Ancylostomiasis
- Andermann syndrome
- Andersen disease
- Andersen syndrome
- Anderson disease
- Anderson-Fabry disease
- Androgen insensitivity, complete
- Androgen insensitivity, partial
- Androgen insensitivity syndrome
- Androgen resistance syndrome
- Anemia congenital hypoplastic, Blackfan-Diamond type
- Anemia due to pyrimidine 5' nucleotidase deficiency
- Anemia due to red cell membrane anomaly
- Anemia, sideroblastic, X-linked - ataxia
- Anencephaly
- ANE syndrome
- Aneurysmal subarachnoid hemorrhage
- Aneurysm of sinus of Valsalva
- Angelman syndrome
- Angel-shaped phalango-epiphyseal dysplasia
- Angiitis, cutaneous leukocytoclastic
- Angiitis of the central nervous system, isolated
- Angiitis, primary, of the central nervous system
- Angiodysgenetic necrotizing myelopathy
- Angioedema
- Angioedema, ACE inhibitor-related
- Angioedema, acquired, type I
- Angioedema, acquired, type II
- Angioedema estrogen-dependent, inherited
- Angioedema, hereditary
- Angioedema, hereditary, type III
- Angioedema, nonhistaminergic, idiopathic
- Angioedema oestrogen-associated, inherited
- Angiofollicular ganglionic hyperplasia
- Angiofollicular lymph hyperplasia
- Angiohypertrophic myelomalacia, subacute
- Angioimmunoblastic T-cell lymphoma
- Angiokeratoma, diffuse
- Angiokeratoma - intellectual deficit - coarse face
- Angioma neurocutaneous, hereditary
- Angioma serpiginosum, familial
- Angioneurotic edema
- Angioneurotic edema, ACE inhibitor-related
- Angioneurotic edema, acquired
- Angioneurotic edema, acquired, type I
- Angioneurotic edema, acquired, type II
- Angioneurotic edema, familial form
- Angioneurotic edema, hereditary
- Angioneurotic edema, hereditary, type I
- Angioneurotic edema, hereditary, type II
- Angioneurotic edema, hereditary, type III
- Angioneurotic edema, nonhistaminergic, idiopathic
- Angioneurotic edema oestrogen-associated, inherited
- Angioneurotic edema oestrogen-dependent, inherited
- Angioneurotic oedema estrogen-associated, inherited
- Angioneurotic oedema estrogen-dependent, inherited
- Angio-osteohypertrophic syndrome
- Angio-osteohypotrophic syndrome
- Angiostrongyliasis
- Anguillulosis
- Aniridia
- Aniridia - absent patella
- Aniridia - cerebellar ataxia - mental deficiency
- Aniridia-intellectual deficit syndrome
- Aniridia - ptosis - intellectual deficit - obesity, familial form
- Aniridia - renal agenesis - psychomotor retardation
- Anisakiasis
- Ankyloblepharon - ectodermal defects - cleft lip palate
- Ankyloblepharon filiforme adnatum - cleft palate
- Ankyloblepharon filiforme adnatum, isolated
- Ankyloblepharon filiforme - imperforate anus
- Ankylosing spondylarthritis
- Ankylosing vertebral hyperostosis with tylosis
- Ankylosis of teeth
- Ankylostomiasis
- Annuloaortic ectasia
- Anodontia
- Anomalous dysplasia of dentin
- Anomaly of bile acid synthesis
- Anomaly of puberty or/and menstrual cycle
- Anomaly of puberty or/and menstrual cycle of genetic origin
- Anomaly of the secretory and excretory apparatus of the lacrymal system
- Anonychia
- Anonychia, congenital
- Anonychia congenita totalis
- Anonychia microcephaly
- Anonychia - onychodystrophy
- Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges
- Anonychia with flexural pigmentation
- Anophtalmia, clinical
- Anophtalmia - microphthalmia
- Anophtalmia, primitive
- Anophthalmia - esophageal-genital syndrome
- Anophthalmia - heart and pulmonary anomalies - intellectual deficit
- Anophthalmia - hypothalamo-pituitary insufficiency
- Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
- Anophthalmia/microphthalmia - esophageal atresia
- Anophthalmia - Microphthalmia, isolated
- Anophthalmia plus syndrome
- Anophthalmia - pulmonary hypoplasia
- Anophthalmos with limb anomalies
- Anorchidia, bilateral
- Anorectal malformation
- Anorexia nervosa
- Anosmia, isolated, congenital
- ANOTHER syndrome
- Anotia
- Antenatal Epstein-Barr virus infection
- Antenatal multiminicore disease with arthrogryposis multiplex congenital
- Anterior corneal dystrophy
- Anterior horn cell disease
- Anterior megalophthalmia congenital
- Anthracycline extravasations
- Antigen-peptide-transporter deficiency
- Anti-glomerular basement membrane antibody-mediated disease
- Anti-HLA hyperimmunization
- Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis
- Antinolo-Nieto-Borrego syndrome
- Antiphospholipid syndrome
- Antisynthetase syndrome
- Antithrombin deficiency, congenital
- Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis
- Antley-Bixler syndrome
- Antley-Bixler syndrome, type 1
- Antley-Bixler syndrome, type 2
- Anyane-Yeboa syndrome
- AOA1
- Aorta coarctation
- Aorta-pulmonary artery fistula
- Aortic aneurysm syndrome, due to TGFbêta receptors anomalies
- Aortic aneurysm syndrome, Loeys-Dietz type
- Aortic arch anomaly - peculiar facies - intellectual deficit
- Aortic arch defects
- Aortic arch interruption
- Aortic coarctation, atypical
- Aortic dilatation- joint hypermobility- arterial tortuosity
- Aortic malformation
- Aortic valve atresia
- Aortic valve dysplasia
- Aortic valve insufficiency, congenital
- Aortic valve stenosis, congenital
- Aorto-left ventricular tunnel
- Aorto-right ventricular tunnel
- Aorto-ventricular tunnel
- AOS
- APECED syndrome (Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome)
- Apert syndrome
- Apertura pyriformis stenosis, isolated
- Apertura pyriformis with holoprosencephaly
- Aphakia, primary, congenital
- Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
- Aphalangy - syndactyly - microcephaly
- Aphasia, primary progressive
- Aphasia, primary progressive, fluent type
- Aphasia, primary progressive, non-fluent type
- Apical ballooning syndrome
- Aplasia cutis, autosomal recessive
- Aplasia cutis congenita - epibulbar dermoids
- Aplasia cutis congenita - intestinal lymphangiectasia
- Aplasia cutis congenita of limbs recessive
- Aplasia cutis congenita verticis (ACCV)
- Aplasia cutis - myopia
- Aplasia/hypoplasia of limbs and pelvis
- Aplasia of lacrimal and salivary glands
- Aplasia of tibia with split-hand/split-foot deformity
- Apnea of infancy (AOI)
- Apnea of prematurity
- Apolipoprotein AI amyloidosis
- Apolipoprotein A-I deficiency
- Apolipoproteine C-II deficiency
- Apparent mineralocorticoid excess
- Apple peel syndrome
- Aprosencephaly cerebellar dysgenesis
- APSI
- APUDoma
- Arachnodactyly - intellectual deficit - dysmorphism
- Arachnodactyly - ossification abnormal - intellectual deficit
- Arachnoid cyst
- Arbovirosis
- Arbovirus fever
- ARCA
- ARCA1
- Architectural focal cortical dysplasia
- AR-CMT1
- AR-CMT2
- AR-CMT2B1
- AR-CMT2B2
- AR-CMT2C
- ARCMT2K
- ARC syndrome
- ARDS, adult
- ARDS, infant
- AREDYLD syndrome
- Areflexic dystasia, hereditary, Roussy-Levy type
- Aregenerative anemia
- Arena syndrome
- Areolar atrophy of the macula
- Arginase deficiency
- Arginine:glycine amidinotransferase deficiency
- Argininemia
- Argininosuccinase deficiency
- Argininosuccinate synthetase deficiency
- Argininosuccinicaciduria
- Argyria
- Argyrophilic grain disease
- Arhinia - choanal atresia - microphthalmia
- Arkless-Graham syndrome
- Armfield syndrome
- Arndt-Gottron disease
- Arnold-Chiari malformation
- Aromatase deficiency
- Aromatase excess syndrome
- Aromatic L-aminoacid decarboxylase deficiency
- Arrhinia
- Arrhythmogenic right ventricular cardiomyopathy
- Arrhythmogenic right ventricular dysplasia
- ARSACS
- ARSB deficency
- Arterial calcification, generalized, of infancy
- Arterial dissection - lentiginosis
- Arterial duct anomaly
- Arterial duct, atypical
- Arterial duct, premature closure of the
- Arterial occlusive disease, progressive - hypertension - heart defects - bone fragility - brachysyndactyly
- Arterial tortuosity
- Arteriohepatic dysplasia
- Arteriovenous fistula
- Arteriovenous malformation
- Arteriovenous malformation, frontonasal
- Arteriovenous malformation, maxillary
- Arteriovenous malformation of the limb
- Arteriovenous malformation of the limbs
- Arteriovenous malformation of the trunk
- Arterivenous malformation, mandibular
- Arthritis, enthesitis-related
- Arthritis, juvenile chronic
- Arthritis, juvenile psoriatic
- Arthritis, juvenile rheumatoid
- Arthritis, oligoarticular juvenile
- Arthritis, systemic-onset, juvenile idiopathic
- Arthritis urethritica
- Arthrogryposis, congenital - myopathic seizures
- Arthrogryposis distal type 1
- Arthrogryposis, distal, type 2A
- Arthrogryposis, distal, type 2A
- Arthrogryposis, distal, type 2B
- Arthrogryposis, distal, type 3
- Arthrogryposis, distal, type 4
- Arthrogryposis, distal, type 5
- Arthrogryposis, distal, type 6
- Arthrogryposis, distal, type 7
- Arthrogryposis, distal, type 8
- Arthrogryposis, distal, type 9
- Arthrogryposis distal type I
- Arthrogryposis distal type II
- Arthrogryposis, distal, type IIB
- Arthrogryposis, distal, type IID
- Arthrogryposis due to muscular dystrophy
- Arthrogryposis - ectodermal dysplasia - other anomalies
- Arthrogryposis - epileptic seizures - migrational brain disorder
- Arthrogryposis - hyperkeratosis, lethal form
- Arthrogryposis, lethal - anterior horn cell disease
- Arthrogryposis-like hand anomaly - sensorineural deafness
- Arthrogryposis like syndrome
- Arthrogryposis multiplex congenita
- Arthrogryposis multiplex congenita - lissencephaly
- Arthrogryposis multiplex congenita - pulmonary hypoplasia
- Arthrogryposis multiplex congenita - whistling face
- Arthrogryposis - ophthalmoplegia - retinopathy
- Arthrogryposis - renal dysfunction - cholestasis
- Arthrogryposis - severe scoliosis
- Arthrogryposis - spondylohypoplasia - popliteal pterygium
- Arthrogryposis syndrome
- Arthroophthalmopathy, hereditary progressive
- Arthropathy-camptodactyly syndrome
- Arthropathy progressive pseudorheumatoid of childhood
- Arts syndrome
- ARX-related epileptic encephalopathy
- Arylsulfatase A deficiency
- Arylsulfatase B deficiency
- Asbestos intoxication
- Asbestosis
- Ascending aorta, aneurysm or dilation of
- Ascending aorta anomaly
- Ascher syndrome
- ASD, ostium primum type
- Aseptic abscesses syndrome
- Aseptic necrosis of patella
- Aseptic necrosis of phalangeal epiphyses
- Aseptic necrosis of the capital femoral epiphysis
- Aseptic necrosis of the capital humerus
- Aseptic necrosis of the lunate bone
- Aseptic necrosis of the tarsal bone
- Aseptic necrosis of the tibial tubercle
- Aseptic osteitis
- Aseptic systemic abscesses
- Asherman's syndrome
- Aspartoacylase deficiency
- Aspartylglucosaminidase deficiency
- Aspartylglucosaminuria
- ASPED
- Asperger syndrome
- Aspergillosis
- Asphyxiating thoracic dystrophy of the newborn
- ASPWSCR duplication
- Astley-Kendall dysplasia
- Astrocytoma
- Asymmetric crying facies
- Ataxia - apraxia - intellectual deficit, X-linked
- Ataxia, autosomal recessive, Beauce type
- Ataxia, cerebellar, autosomal dominant, type 1
- Ataxia, cerebellar, autosomal dominant, type 2
- Ataxia, cerebellar, autosomal dominant, type 3
- Ataxia, cerebellar, autosomal recessive - blindness - deafness
- Ataxia, cerebellar, autosomal recessive - saccadic intrusion
- Ataxia, cerebellar, Cayman type
- Ataxia, cerebellar - ectodermal dysplasia
- Ataxia, cerebellar - hypogonadism
- Ataxia, cerebellar, X-linked
- Ataxia - deafness - optic atrophy, lethal
- Ataxia-deafness-retardation syndrome
- Ataxia-deafness syndrome, X-linked
- Ataxia - delayed dentition - hypomyelination
- Ataxia-dementia syndrome, X-linked
- Ataxia - diabetes - goiter - gonadal insufficiency
- Ataxia due to coenzyme Q(10) deficiency, autosomal recessive
- Ataxia due to ubiquinone deficiency, autosomal recessive
- Ataxia, episodic, type 1
- Ataxia, episodic, type 3
- Ataxia, episodic, type 4
- Ataxia, episodic - vertigo - tinnitus - myokymia
- Ataxia, familial paroxysmal
- Ataxia, Friedreich-like, with selective vitamin E deficiency
- Ataxia - hypogonadism - choroidal dystrophy
- Ataxia - leukodystrophy - tubulopathy, due to cytochrome c oxidase deficiency
- Ataxia, mitochondrial recessive, syndrome
- Ataxia - oculomotor apraxia, type 1
- Ataxia - oculomotor apraxia, type 2 (AOA2)
- Ataxia - pancytopenia
- Ataxia - photosensitivity - short stature
- Ataxia, spastic, Charlevoix-Saguenay type
- Ataxia, spastic - corneal dystrophy
- Ataxia - spastic miosis, congenital
- Ataxia, spastic - ocular anomalies
- Ataxia, spinocerebellar, autosomal dominant, type 7
- Ataxia, spinocerebellar, type 1
- Ataxia, spinocerebellar, type 10
- Ataxia, spinocerebellar, type 11
- Ataxia, spinocerebellar, type 12
- Ataxia, spinocerebellar, type 13
- Ataxia, spinocerebellar, type 14
- Ataxia, spinocerebellar, type 15
- Ataxia, spinocerebellar, type 16
- Ataxia, spinocerebellar, type 17
- Ataxia, spinocerebellar, type 18
- Ataxia, spinocerebellar, type 19
- Ataxia, spinocerebellar, type 2
- Ataxia, spinocerebellar type 20
- Ataxia, spinocerebellar, type 21
- Ataxia, spinocerebellar type 22
- Ataxia, spinocerebellar type 23
- Ataxia, spinocerebellar type 25
- Ataxia, spinocerebellar type 26
- Ataxia, spinocerebellar, type 27
- Ataxia, spinocerebellar type 28
- Ataxia, spinocerebellar, type 3
- Ataxia, spinocerebellar, type 4
- Ataxia, spinocerebellar, type 5
- Ataxia, spinocerebellar, type 6
- Ataxia, spinocerebellar, type 8
- Ataxia, spinocerebellar, with axonal neuropathy, type 1
- Ataxia, spinocerebellar, X-linked, type 3
- Ataxia, spinocerebellar, X-linked, type 4
- Ataxia tapetoretinal degeneration
- Ataxia-telangiectasia
- Ataxia-telangiectasia, variant 1 (AT V1)
- Ataxia - tonic upward deviation of eyes
- Ataxia with dementia
- Ataxo-opso-myoclonus syndrome
- Atelencephaly
- Atelosteogenesis I
- Atelosteogenesis, type II
- Atelosteogenesis, type III
- Athabaskan brainstem dysgenesis syndrome
- Atherosclerosis- deafness - diabetes - epilepsy - nephropathy
- Athyreosis
- Atkin-Flaitz syndrome
- ATM/TM
- ATP synthetase deficiency
- ATR16
- Atransferrinemia
- Atresia of small intestine
- Atresia of urethra
- Atrial cardiomyopathy with heart block
- Atrial defect and interauricular communication
- Atrial fibrillation, familial
- Atrial myxoma, familial
- Atrial septal defect (ASD)
- Atrial septal defect - atrioventricular conduction defects
- Atrial septal defect, ostium secundum type
- Atrial septal defect, sinus venosus type
- Atrial septum aneurysm
- Atrial tachyarrhythmia with short PR interval
- Atrichia - mental and growth delay
- Atrichia with papular lesions
- Atrichie papulaire
- Atriodigital dysplasia
- Atrio-ventricular and ventriculo-arterial double discordia, isolated
- Atrioventricular block, congenital
- Atrioventricular canal, complete
- Atrioventricular canal, complete - fallot tetralogy
- Atrioventricular canal, complete - left heart obstruction
- Atrioventricular canal, complete - ventricle hypoplasia
- Atrioventricular canal defect
- Atrioventricular canal, partial
- Atrioventricular defect - blepharophimosis -radial defects
- Atrioventricular discordance
- Atrioventricular valve anomaly
- Atrophia aerata
- Atrophoderma vermiculata
- ATRUS syndrome
- ATS-MR
- ATTR cardiomyopathy
- Atypical autism
- Atypical coarctation of aorta
- Atypical hemolytic uremic syndrome
- Atypical hemolytic uremic syndrome with antibody anti-factor H
- Atypical hemolytic uremic syndrome with B factor anomaly
- Atypical hemolytic uremic syndrome with C3 anomaly
- Atypical hemolytic uremic syndrome with H factor anomaly
- Atypical hemolytic uremic syndrome with I factor anomaly
- Atypical hemolytic uremic with MCP or CD46 anomaly
- Atypical mole
- Atypical Rett syndrome
- Atypical RTT
- Atypical Werner syndrome
- Auditory neuropathy with peripheral sensory neuropathy, X-linked, type 1
- Auditory ossicle malformation, congenital, isolated
- Aughton-Hufnagle syndrome
- Aughton syndrome
- Aural atresia - multiple congenital anomalies - intellectual deficit
- Auralcephalosyndactyly
- Auricle anomaly
- Auricles, juxtaposition of the
- Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
- Auriculo-condylar syndrome
- Auriculoocular anomalies - cleft lip
- Auriculoosteodysplasia
- Aurocephalosyndactyly
- Ausems-Wittebol Post-Hennekam syndrome
- Autism
- Autism - facial port-wine stain
- Autistic spectrum disorder
- Autoimmune enteropathy
- Autoimmune enteropathy, type 1
- Autoimmune enteropathy, type 2
- Autoimmune enteropathy, type 3
- Autoimmune hemolytic anemia
- Autoimmune hemolytic anemia, drug-induced
- Autoimmune hemolytic anemia, mixed-type
- Autoimmune hemolytic anemia, warm type
- Autoimmune hepatitis
- Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease
- Autoimmune lymphoproliferative syndrome
- Autoimmune myasthenia gravis
- Autoimmune necrotizing myopathy
- Autoimmune neurological channelopathy
- Autoimmune neurological channelopathy due to a acetylcholine receptor subunits defect
- Autoimmune neurological channelopathy due to a potassium channel defect
- Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect
- Autoimmune or collagen disease with cardiomyopathy
- Autoimmune pancreatitis
- Autoimmune polyendocrinopathy, type 1
- Autoimmune polyendocrinopathy, type 2
- Autoimmune thyroid disease and/or type 1 diabetes - Addison's disease
- Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
- Autoinflammatory syndrome
- Autosomal dominant centronuclear myopathy
- Autosomal dominant cerebellar ataxia
- Autosomal dominant Charcot-Marie-Tooth disease, type 2
- Autosomal dominant Charcot-Marie-Tooth disease, type 2A1
- Autosomal dominant Charcot-Marie-Tooth disease, type 2A2
- Autosomal dominant Charcot-Marie-Tooth disease, type 2B
- Autosomal dominant Charcot-Marie-Tooth disease, type 2C
- Autosomal dominant Charcot-Marie-Tooth disease, type 2D
- Autosomal dominant Charcot-Marie-Tooth disease, type 2E
- Autosomal dominant Charcot-Marie-Tooth disease, type 2F
- Autosomal dominant Charcot-Marie-Tooth disease, type 2G
- Autosomal dominant Charcot-Marie-Tooth disease, type 2I
- Autosomal dominant Charcot-Marie-Tooth disease, type 2J
- Autosomal dominant Charcot-Marie-Tooth disease, type 2K
- Autosomal dominant Charcot-Marie-Tooth disease, type 2L
- Autosomal dominant circumscribed palmoplantar keratoderma with an associated disease
- Autosomal dominant circumscribed palmoplantar keratoderma without an associated disease
- Autosomal dominant congenital benign spinal muscular atrophy
- Autosomal dominant diffuse and circumscribed palmoplantar keratoderma with an associated disease
- Autosomal dominant diffuse palmoplantar keratoderma with an associated disease
- Autosomal dominant distal myopathy
- Autosomal dominant familial spastic paraplegia, type 1
- Autosomal dominant familial spastic paraplegia, type 2
- Autosomal dominant familial spastic paraplegia, type 3
- Autosomal dominant hereditary axonal motor and sensory neuropathy
- Autosomal dominant hereditary demyelinating motor and sensory neuropathy
- Autosomal dominant hereditary distal motor neuropathy
- Autosomal dominant hereditary sensory and autonomic neuropathy
- Autosomal dominant HIES
- Autosomal dominant hyper IgE syndrome
- Autosomal dominant hyperimmunoglobulin E syndrome
- Autosomal dominant hypohidrotic ectodermal dysplasia
- Autosomal dominant intermediate Charcot-Marie-Tooth disease
- Autosomal dominant intermediate Charcot-Marie-Tooth disease, type A
- Autosomal dominant intermediate Charcot-Marie-Tooth disease, type B
- Autosomal dominant intermediate Charcot-Marie-Tooth disease, type C
- Autosomal dominant intermediate Charcot-Marie-Tooth disease, type D
- Autosomal dominant limb-girdle muscular dystrophy
- Autosomal dominant limb-girdle muscular dystrophy, type 1A
- Autosomal dominant limb-girdle muscular dystrophy, type 1B
- Autosomal dominant limb-girdle muscular dystrophy, type 1C
- Autosomal dominant limb-girdle muscular dystrophy, type 1D
- Autosomal dominant limb-girdle muscular dystrophy, type 1E
- Autosomal dominant limb-girdle muscular dystrophy, type 1F
- Autosomal dominant limb-girdle muscular dystrophy, type 1G
- Autosomal dominant multiple pterygium syndrome
- Autosomal dominant myoglobinuria
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant nonsyndromic intellectual deficit
- Autosomal dominant omodysplasia
- Autosomal dominant optic atrophy, non-OPA1 type
- Autosomal dominant optic atrophy, OPA1 type
- Autosomal dominant optic neuropathy
- Autosomal dominant osteosclerosis type Stanescu
- Autosomal dominant palmoplantar keratoderma with an associated disease
- Autosomal dominant palmoplantar keratoderma without an associated disease
- Autosomal dominant proximal spinal muscular atrophy
- Autosomal dominant pseudohypoaldosteronism type 1
- Autosomal dominant rhegmatogenous retinal detachment
- Autosomal dominant severe congenital neutropenia
- Autosomal dominant spastic paraplegia, type 10
- Autosomal dominant spastic paraplegia, type 12
- Autosomal dominant spastic paraplegia, type 13
- Autosomal dominant spastic paraplegia, type 17
- Autosomal dominant spastic paraplegia, type 19
- Autosomal dominant spastic paraplegia, type 29
- Autosomal dominant spastic paraplegia, type 3
- Autosomal dominant spastic paraplegia, type 31
- Autosomal dominant spastic paraplegia, type 37
- Autosomal dominant spastic paraplegia, type 38
- Autosomal dominant spastic paraplegia, type 4
- Autosomal dominant spastic paraplegia, type 42
- Autosomal dominant spastic paraplegia, type 6
- Autosomal dominant spastic paraplegia, type 8
- Autosomal dominant spastic paraplegia, type 9
- Autosomal dominant spinocerebellar ataxia due to a channelopathy
- Autosomal dominant spinocerebellar ataxia due to a point mutation
- Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly
- Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine
- Autosomal recessive agammaglobulinemia
- Autosomal recessive centronuclear myopathy
- Autosomal recessive cerebellar ataxia
- Autosomal recessive cerebellar ataxia due to a DNA repair defect
- Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
- Autosomal recessive Charcot-Marie-Tooth disease, type 2
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive circumscribed palmoplantar keratoderma
- Autosomal recessive congenital cerebellar ataxia
- Autosomal recessive degenerative and progressive cerebellar ataxia
- Autosomal recessive diffuse palmoplantar keratoderma
- Autosomal recessive distal myopathy
- Autosomal recessive hereditary demyelinating motor and sensory neuropathy
- Autosomal recessive hereditary distal motor neuropathy
- Autosomal recessive hereditary sensory and autonomic neuropathy
- Autosomal recessive HIES
- Autosomal recessive hyper IgE syndrome
- Autosomal recessive intermediate osteopetrosis
- Autosomal recessive isolated optic neuropathy
- Autosomal recessive limb-girdle muscular dystrophy
- Autosomal recessive limb-girdle muscular dystrophy, type 2B
- Autosomal recessive limb-girdle muscular dystrophy, type 2G
- Autosomal recessive limb-girdle muscular dystrophy, type 2H
- Autosomal recessive limb-girdle muscular dystrophy, type 2I
- Autosomal recessive limb-girdle muscular dystrophy, type 2J
- Autosomal recessive limb-girdle muscular dystrophy, type 2K
- Autosomal recessive limb-girdle muscular dystrophy, type 2L
- Autosomal recessive limb-girdle muscular dystrophy, type 2M
- Autosomal recessive limb-girdle muscular dystrophy, type 2N
- Autosomal recessive lower motor neuron disease with childhood onset
- Autosomal recessive malignant osteopetrosis
- Autosomal recessive metabolic cerebellar ataxia
- Autosomal recessive multiple pterygium syndrome
- Autosomal recessive nonsyndromic intellectual deficit
- Autosomal recessive omodysplasia
- Autosomal recessive optic neuropathy
- Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
- Autosomal recessive osteopetrosis, type 7
- Autosomal recessive palmoplantar keratoderma
- Autosomal recessive pseudohypoaldosteronism type 1
- Autosomal recessive severe combined immunodeficiency T-B+NK-
- Autosomal recessive severe combined immunodeficiency T-B+NK+
- Autosomal recessive spastic paraplegia - disc herniation
- Autosomal recessive spastic paraplegia, type 11
- Autosomal recessive spastic paraplegia, type 14
- Autosomal recessive spastic paraplegia, type 15
- Autosomal recessive spastic paraplegia, type 18
- Autosomal recessive spastic paraplegia, type 20
- Autosomal recessive spastic paraplegia, type 21
- Autosomal recessive spastic paraplegia, type 23
- Autosomal recessive spastic paraplegia, type 24
- Autosomal recessive spastic paraplegia, type 25
- Autosomal recessive spastic paraplegia, type 26
- Autosomal recessive spastic paraplegia, type 27
- Autosomal recessive spastic paraplegia, type 28
- Autosomal recessive spastic paraplegia, type 30
- Autosomal recessive spastic paraplegia, type 32
- Autosomal recessive spastic paraplegia, type 35
- Autosomal recessive spastic paraplegia, type 39
- Autosomal recessive spastic paraplegia, type 5A
- Autosomal recessive spastic paraplegia, type 7
- Autosomal recessive spondylocostal dysostosis
- Autosomal recessive syndromic cerebellar ataxia
- Autosomal recessive syndromic optic neuropathy
- Autosome anomaly
- Avascular necrosis of femoral head, familial form
- AVED
- Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities
- Axenfeld-Rieger syndrome
- Axenfeld's anomaly
- Axial mesodermal dysplasia spectrum
- Axial osteosclerosis
- Axial spondylometaphyseal dysplasia
- Axonal Charcot-Marie-Tooth disease with acrodystrophy
- Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammapathy
- Ayazi syndrome
- Azoospermia - sinopulmonary infections
