Rare Diseases under letter "A"

AAA syndrome [↗]
AAE [↗]
Aagenaes syndrome [↗]
Aarskog-like syndrome [↗]
Aarskog-Ose-Pande syndrome [↗]
Aarskog-Scott syndrome [↗]
Aarskog syndrome [↗]
Aase-Smith II syndrome [↗]
Aase-Smith I syndrome [↗]
Aase-Smith syndrome [↗]
Aase syndrome [↗]
ABCB4 gene mutation-associated cholelithiasis [↗]
ABCD syndrome [↗]
Aberfeld syndrome [↗]
Abetalipoproteinemia [↗]
Ablepharon macrostomia syndrome [↗]
Abnormal number of coronary ostia [↗]
Abnormal origin of the pulmonary artery [↗]
Abnormal origin or aberrant course of coronary artery [↗]
Abruzzo-Erickson syndrome [↗]
ABSD [↗]
Absence deformity of leg - cataract [↗]
Absence of brachiocephalic vein [↗]
Absence of dermatoglyphics - congenital milia [↗]
Absence of fingerprints - congenital milia [↗]
Absence of innominate vein [↗]
Absence of lateral incisors [↗]
Absence of pulmonary valve - Fallot's tetralogy - absence of ductus arteriosus [↗]
Absence of pulmonary valve - ventricular septal defect - persistent ductus arteriosus [↗]
Absence of the pulmonary artery [↗]
Absence of the superior caval vein [↗]
Absence of the superior vena cava [↗]
Absence of the SVC [↗]
Absence of tibia [↗]
Absence of ulna and fibula [↗]
Absence of vagina [↗]
Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit [↗]
Absent thumb - short stature - immunodeficiency [↗]
Absent tibia - polydactyly [↗]
Absent tibia - polydactyly - arachnoid cyst [↗]
Acalvaria [↗]
Acanthamoeba keratitis [↗]
Acanthokeratolytic verrucous nevus [↗]
Acanthosis nigricans [↗]
Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement [↗]
Acatalasemia [↗]
Accelerated skeletal maturation - peculiar facies - failure to thrive [↗]
Accessory breasts [↗]
Accessory mitral valve tissue [↗]
Accessory pancreas [↗]
Accessory tricuspid valve tissue [↗]
ACCV [↗]
Aceruloplasminemia [↗]
Acetazolamide-responsive congenital myotonia [↗]
Acetazolamide-responsive myotonia [↗]
ACFS [↗]
Achalasia - addisonianism - alacrima syndrome [↗]
Achalasia-alacrimia syndrome [↗]
Achalasia - microcephaly [↗]
Acheiropodia [↗]
Acheiropody [↗]
Achondrogenesis [↗]
Achondrogenesis, Houston-Harris type [↗]
Achondrogenesis, Langer-Saldino type [↗]
Achondrogenesis, Parenti-Fraccaro type [↗]
Achondrogenesis type 1A [↗]
Achondrogenesis type 1B [↗]
Achondrogenesis type 2 [↗]
Achondroplasia [↗]
Achondroplasia and Swiss-type agammaglobulinemia [↗]
Achondroplasia - severe combined immunodeficiency [↗]
Achromatopsia [↗]
Acid beta-glucosidase deficiency [↗]
Acid maltase deficiency [↗]
Acid phosphatase deficiency [↗]
Acitretin embryofetopathy [↗]
Ackerman dermatitis syndrome [↗]
Ackerman syndrome [↗]
Aconitase deficiency [↗]
Acoustic neurilemoma [↗]
Acoustic neurinoma [↗]
Acoustic neuroma [↗]
ACPS 2 [↗]
ACPS 4 [↗]
ACPS III [↗]
ACPS with leg hypoplasia [↗]
Acquired angioedema [↗]
Acquired angioedema type 1 [↗]
Acquired angioedema type 2 [↗]
Acquired angioneurotic edema [↗]
Acquired angioneurotic edema type 1 [↗]
Acquired angioneurotic edema type 2 [↗]
Acquired bradykinine-induced angioedema [↗]
Acquired C1 inhibitor deficiency [↗]
Acquired chronic adrenal insufficiency [↗]
Acquired ciliary dyskinesia [↗]
Acquired cutis laxa [↗]
Acquired epidermolysis bullosa [↗]
Acquired generalized lipodystrophy [↗]
Acquired Gronblad-Strandberg-Touraine syndrome [↗]
Acquired HbH disease [↗]
Acquired hemoglobin H disease [↗]
Acquired hemophilia [↗]
Acquired hypertrichosis lanuginosa [↗]
Acquired hypocortisolism [↗]
Acquired hypoprothrombinemia [↗]
Acquired ichthyosis [↗]
Acquired kinky hair syndrome [↗]
Acquired lipoatrophic diabetes [↗]
Acquired myasthenia [↗]
Acquired neuromyotonia [↗]
Acquired non histamine-induced angioedema [↗]
Acquired primary erythocytosis [↗]
Acquired prothrombin deficiency [↗]
Acquired pseudoxanthoma elasticum [↗]
Acquired PXE [↗]
Acquired rippling muscle disease [↗]
Acquired secondary erythrocytosis [↗]
Acquired secondary polycythemia [↗]
Acquired thrombotic thrombocytopenic purpura due to anti-ADAMTS 13 antibodies [↗]
Acquired Von Willebrand disease [↗]
Acquired Von Willebrand syndrome [↗]
Acral dysostosis with facial and genital abnormalities [↗]
Acral persistent papular mucinosis [↗]
Acral self-healing collodion baby [↗]
Acral SHCB [↗]
Acrania [↗]
Acrocallosal syndrome [↗]
Acrocapitofemoral dysplasia [↗]
Acro-cardio-facial syndrome [↗]
Acrocephalopolydactylous dysplasia [↗]
Acrocephalopolydactyly [↗]
Acrocephalopolysyndactyly type 2 [↗]
Acrocephalopolysyndactyly type 3 [↗]
Acrocephalopolysyndactyly type 4 [↗]
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 with multiple hormone resistance [↗]
Acrodysplasia [↗]
Acrodysplasia scoliosis [↗]
Acrofacial dysostosis, Catania type [↗]
Acrofacial dysostosis, Genee-Wiedmann type [↗]
Acrofacial dysostosis, Kennedy-Teebi type [↗]
Acrofacial dysostosis, Nager type [↗]
Acrofacial dysostosis, Palagonia type [↗]
Acrofacial dysostosis, Rodriguez type [↗]
Acrofacial dysostosis, Weyers type [↗]
Acro-fronto-facio-nasal dysostosis [↗]
Acrofrontofacionasal dysostosis type 2 [↗]
Acrofrontofacionasal syndrome type 2 [↗]
Acrogeria [↗]
Acrogeria, Gottron type [↗]
Acrokeratoelastoidosis of Costa [↗]
Acrokeratosis of Bazex [↗]
Acrokeratosis paraneoplastica [↗]
Acrokeratosis verruciformis of Hopf [↗]
Acromegaloid facial appearance syndrome [↗]
Acromegaloid facies - hypertrichosis [↗]
Acromegaly [↗]
Acromegaly - cutis verticis gyrata - corneal leukoma [↗]
Acromelanosis [↗]
Acromelic frontonasal dysplasia [↗]
Acromesomelic dwarfism [↗]
Acromesomelic dysplasia, Brahimi-Bacha type [↗]
Acromesomelic dysplasia, Grebe type [↗]
Acromesomelic dysplasia, Hunter-Thomson type [↗]
Acromesomelic dysplasia, Maroteaux type [↗]
Acrometageria [↗]
Acromicric dysplasia [↗]
Acroosteolysis dominant type [↗]
Acro-oto-ocular syndrome [↗]
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 [↗]
ACS 1 [↗]
ACS 3 [↗]
ACS 5 [↗]
ACTH-independent macronodular adrenal hyperplasia [↗]
ACTH resistance [↗]
Actinic lichen planus [↗]
Actinic LP [↗]
Actin myopathy [↗]
Action myoclonus - renal failure syndrome [↗]
Activation-induced cytidine deaminase deficiency [↗]
Acute ackee fruit intoxication [↗]
Acute adrenal insufficiency [↗]
Acute and disseminated Langerhans cell histiocytosis [↗]
Acute basophilic leukemia [↗]
Acute bilateral depigmentation of the iris [↗]
Acute biphenotypic leukemia [↗]
Acute disseminated encephalitis [↗]
Acute disseminated encephalomyelitis [↗]
Acute erythroid leukemia [↗]
Acute fatty liver of pregnancy [↗]
Acute febrile neutrophilic dermatosis [↗]
Acute graft versus host disease [↗]
Acute hepatic failure [↗]
Acute hepatic porphyria [↗]
Acute idiopathic demyelinating polyneuropathy [↗]
Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defect [↗]
Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect [↗]
Acute inflammatory demyelinating polyradiculoneuropathy [↗]
Acute inflammatory polyneuropathy [↗]
Acute intermittent porphyria [↗]
Acute interstitial pneumonia [↗]
Acute interstitial pneumonitis [↗]
Acute intoxication blighia sapida [↗]
Acute leukemia of ambiguous lineage [↗]
Acute leukemia of indeterminate lineage [↗]
Acute liver failure [↗]
Acute lung injury [↗]
Acute lymphoblastic leukemia [↗]
Acute lymphoblastic leukemia/lymphoma [↗]
Acute lymphocytic leukemia [↗]
Acute megacaryoblastic leukemia [↗]
Acute monoblastic leukemia [↗]
Acute monocytic leukemia [↗]
Acute motor axonal neuropathy [↗]
Acute motor-sensory axonal GBS [↗]
Acute motor-sensory axonal Guillain-Barré syndrome [↗]
Acute motor-sensory axonal neuropathy [↗]
Acute multiple sclerosis, Marburg type [↗]
Acute multiple sclerosis, Marburg variant [↗]
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 myeloblastic leukemia with maturation [↗]
Acute myeloblastic leukemia without maturation [↗]
Acute myelodysplasia with myelofibrosis [↗]
Acute myelofibrosis [↗]
Acute myelogenous leukemia [↗]
Acute myeloid leukemia [↗]
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor [↗]
Acute myeloid leukemia in Down syndrome [↗]
Acute myeloid leukemia with 11q23 abnormalities [↗]
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) [↗]
Acute myeloid leukemia with multilineage dysplasia [↗]
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants [↗]
Acute myeloid leukemia with t(8;21)(q22;q22) translocation [↗]
Acute myelomonocytic leukemia [↗]
Acute myelosclerosis [↗]
Acute necrotizing encephalopathy of childhood [↗]
Acute neonatal citrullinemia type 1 [↗]
Acute neonatal citrullinemia type I [↗]
Acute neuronopathic Gaucher disease [↗]
Acute non-lymphoblastic leukemia [↗]
Acute opioid poisoning [↗]
Acute panautonomic GBS [↗]
Acute panautonomic Guillain-Barré syndrome [↗]
Acute panautonomic neuropathy [↗]
Acute pandysautonomia [↗]
Acute panmyelosis with myelofibrosis [↗]
Acute peripheral arterial occlusion [↗]
Acute poisoning by drugs with membrane-stabilizing effect [↗]
Acute promyelocytic leukemia [↗]
Acute pure motor GBS [↗]
Acute pure motor Guillain-Barré syndrome [↗]
Acute pure sensory GBS [↗]
Acute pure sensory Guillain-Barré syndrome [↗]
Acute pure sensory neuropathy [↗]
Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma [↗]
Acute sensory ataxic GBS [↗]
Acute sensory ataxic Guillain-Barré syndrome [↗]
Acute sensory ataxic neuropathy [↗]
Acute transverse myelitis [↗]
Acute tricyclic antidepressant poisoning [↗]
Acute tubulointerstitial nephritis and uveitis syndrome [↗]
Acute undifferentiated leukemia [↗]
ACY1D [↗]
Acyl-CoA dehydrogenase 9 deficiency [↗]
ACZ-responsive congenital myotonia [↗]
ACZ-responsive myotonia [↗]
Adair-Dighton syndrome [↗]
Adamantinoma [↗]
Adams-Oliver syndrome [↗]
ADANE [↗]
ADCA1 [↗]
ADCA3 [↗]
ADCA4 [↗]
ADCAI [↗]
ADCAIII [↗]
ADCAIV [↗]
ADCL [↗]
ADCME [↗]
AD-CNM [↗]
Addison disease [↗]
Adducted thumbs - arthrogryposis, Christian type [↗]
Adducted thumbs-arthrogryposis, Dundar type [↗]
ADEM [↗]
Adenine phosphoribosyltransferase deficiency [↗]
Adenocarcinoma of the cervix uteri [↗]
Adenohypophysitis [↗]
Adenoid basal carcinoma of the cervix uteri [↗]
Adenoid cystic carcinoma of the cervix uteri [↗]
Adenoid cystic carcinoma of the corpus uteri [↗]
Adenomucinosis [↗]
Adenosarcoma of the cervix uteri [↗]
Adenosarcoma of the corpus uteri [↗]
Adenosine deaminase deficiency [↗]
Adenosine monophosphate deaminase deficiency [↗]
Adenosylcobalamin deficiency [↗]
Adenovirus infection in immunocompromised patients [↗]
Adenylosuccinase deficiency [↗]
Adenylosuccinate lyase deficiency [↗]
Adhesive arachnoiditis [↗]
AD-HIES [↗]
Adiposalgia [↗]
Adipose tissue rheumatism [↗]
Adiposis dolorosa [↗]
ADLTE [↗]
ADNFLE [↗]
Adolescent benign focal crisis [↗]
Adolescent idiopathic scoliosis [↗]
ADPEAF [↗]
adPEO [↗]
ADP platelet receptor P2Y12 deficiency [↗]
Adrenal incidentaloma [↗]
Adrenocortical adenoma [↗]
Adrenocortical carcinoma [↗]
Adrenocortical carcinoma with pure aldosterone hypersecretion [↗]
Adrenomyeloneuropathy [↗]
Adrenomyodystrophy [↗]
ADSA [↗]
ADSD [↗]
ADSL deficiency [↗]
Adult acute respiratory distress syndrome [↗]
Adult ARDS [↗]
Adult Bartter syndrome [↗]
Adult basal ganglia disease [↗]
Adult chronic recurrent multifocal osteomyelitis [↗]
Adult CRMO [↗]
Adult familial nephronophtisis - spastic quadriparesia [↗]
Adult heart tumor [↗]
Adult hepatocellular carcinoma [↗]
Adult hypophosphatasia [↗]
Adult idiopathic neutropenia [↗]
Adult intestinal botulism [↗]
Adult intestinal colonization botulism [↗]
Adult intestinal toxemia botulism [↗]
Adult intestinal toxin-mediated botulism [↗]
Adult Krabbe disease [↗]
Adult NCL [↗]
Adult neuronal ceroid lipofuscinosis [↗]
Adult-onset Alpha-N-acetylgalactosaminidase deficiency [↗]
Adult-onset autosomal dominant leukodystrophy [↗]
Adult-onset citrin deficiency [↗]
Adult-onset citrullinemia type 1 [↗]
Adult-onset citrullinemia type 2 [↗]
Adult-onset citrullinemia type I [↗]
Adult-onset focal torsion dystonia [↗]
Adult-onset foveomacular vitelliform dystrophy [↗]
Adult-onset idiopathic torsion dystonia [↗]
Adult onset nemaline myopathy [↗]
Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia [↗]
Adult-onset PLS [↗]
Adult-onset primary lateral sclerosis [↗]
Adult-onset proximal spinal muscular atrophy, autosomal dominant [↗]
Adult phosphoethanolaminuria [↗]
Adult polyglucosan body disease [↗]
Adult pulmonary Langerhans cell histiocytosis [↗]
Adult pure red cell aplasia [↗]
Adult Rathburn disease [↗]
Adult Still's disease [↗]
ADULT syndrome [↗]
Adult T-cell leukemia/lymphoma [↗]
ADVIRC [↗]
Adynamia epidodica hereditaria [↗]
AEC syndrome [↗]
AEI [↗]
AFAP [↗]
AFLP [↗]
African iron overload [↗]
African tick typhus [↗]
African trypanosomiasis [↗]
Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis [↗]
Agammaglobulinemia, non-Bruton type [↗]
Aged appearance - cranofacial anomalies - hypotonia - developmental delay - cryptorchidism - cardiac arrhythmia [↗]
Agenesis and aplasia of uterine body [↗]
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia [↗]
Agenesis of the superior caval vein [↗]
Agenesis of the superior vena cava [↗]
Agenesis of the SVC [↗]
Aggressive fibromatosis [↗]
Aggressive NK-cell leukemia [↗]
Aggressive systemic mastocytosis [↗]
Aglossia - adactylia [↗]
Agnathia - holoprosencephaly - situs inversus [↗]
Agnogenic myeloid metaplasia [↗]
Agonadism - dextrocardia - diaphragmatic hernia [↗]
AHC [↗]
AHDS [↗]
Ahn-Lerman-Sagie syndrome [↗]
AHO - PHP Ia [↗]
AHO - PPHP [↗]
aHUS [↗]
Aicardi-Goutieres syndrome [↗]
Aicardi syndrome [↗]
AICA-ribosiduria [↗]
AID deficiency [↗]
AIDP [↗]
AIDS wasting syndrome [↗]
AIMAH [↗]
AIP [↗]
AIP type 1 [↗]
AIP type 2 [↗]
AIS [↗]
Akaba-Hayasaka syndrome [↗]
Akesson syndrome [↗]
ALAD porphyria [↗]
Alagille syndrome [↗]
Alagille syndrome due to 20p12 microdeletion [↗]
Alagille syndrome due to a JAG1 point mutation [↗]
Alagille syndrome due to a NOTCH2 point mutation [↗]
Alagille syndrome due to del(20)(p12) [↗]
Alagille syndrome due to monosomy 20p12 [↗]
Alagille-Watson syndrome [↗]
Alagille-Watson syndrome due to a JAG1 point mutation [↗]
Alagille-Watson syndrome due to a NOTCH2 point mutation [↗]
Alagille-Watson syndrome due to monosomy 20p12 [↗]
Åland Island eye disease [↗]
Alar cartilages hypoplasia - coloboma - telecanthus [↗]
Al Awadi-Farag-Teebi syndrome [↗]
Al-Awadi-Raas-Rothschild syndrome [↗]
Albers-Schönberg osteopetrosis [↗]
Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness [↗]
Albinism-deafness syndrome [↗]
Albright hereditary osteodystrophy [↗]
Albright hereditary osteodystrophy 3 [↗]
Albright hereditary osteodystrophy-like syndrome [↗]
Albright hereditary osteodystrophy - PHP Ia [↗]
Albright hereditary osteodystrophy - PPHP [↗]
ALCL [↗]
Alcohol antenatal infection [↗]
Alcohol-responsive dystonia [↗]
ALD [↗]
Aldolase A deficiency [↗]
Aldosterone synthase deficiency [↗]
Aldosterone synthase deficiency unlinked to CYP11B2 [↗]
Aldosterone synthase deficiency unlinked to the aldosterone synthase gene [↗]
Aldred syndrome [↗]
Alexander disease [↗]
Alfi syndrome [↗]
Al Frayh-Facharzt-Haque syndrome [↗]
Al Gazali-Al Talabani 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 [↗]
ALL [↗]
Allain-Babin-Demarquez syndrome [↗]
Allan-Herndon-Dudley syndrome [↗]
Allergic bronchopulmonary aspergillosis [↗]
Allgrove syndrome [↗]
Alobar holoprosencephaly [↗]
Alopecia - anosmia - deafness - hypogonadism [↗]
Alopecia antibody deficiency [↗]
Alopecia - contractures - dwarfism - intellectual deficit [↗]
Alopecia - deafness - hypogonadism [↗]
Alopecia-epilepsy-oligophrenia syndrome, Moynahan type [↗]
Alopecia - epilepsy - pyorrhea - intellectual deficit [↗]
Alopecia - epilepsy - pyorrhea - mental subnormality [↗]
Alopecia - hypogonadism - extrapyramidal disorder [↗]
Alopecia - intellectual deficit - hypergonadotropic hypogonadism [↗]
Alopecia-intellectual deficit syndrome [↗]
Alopecia - progressive neurological defect - endocrinopathy [↗]
Alopecia totalis [↗]
Alopecia universalis [↗]
Alpers-Huttenlocher syndrome [↗]
Alpers progressive sclerosing poliodystrophy [↗]
Alpers syndrome [↗]
Alpha-1,4-glucosidase acid deficiency [↗]
Alpha-1-antichymotrypsin deficiency [↗]
Alpha-1 antitrypsin deficiency [↗]
Alpha-B crystallin-related myofibrillar myopathy [↗]
Alpha-crystallinopathy [↗]
Alpha delta granule deficiency [↗]
Alpha dense granule deficiency [↗]
Alpha-galactosidase A deficiency [↗]
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 [↗]
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 - myelodysplastic syndrome [↗]
Alpha thalassemia - retardation syndrome [↗]
Alpha thalassemia - retardation syndrome, X-linked [↗]
Alpha thalassemia - X-linked intellectual deficit [↗]
Alport deafness-nephropathy [↗]
Alport syndrome [↗]
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis [↗]
Alport syndrome with leukocyte inclusions and macrothrombocytopenia [↗]
Alport syndrome with macrothrombocytopenia [↗]
ALPS [↗]
ALPS type 4 [↗]
ALPS type IV [↗]
ALPS with recurrent infections [↗]
ALS [↗]
ALSG [↗]
Alström syndrome [↗]
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 [↗]
ALX4-related FNDAG [↗]
AMACR deficiency [↗]
AMAN [↗]
Amaurosis congenita of Leber [↗]
Amaurosis - hypertrichosis [↗]
Ambiguous genitalia - normal Mullerian development [↗]
Ambras syndrome [↗]
Amelo-cerebro-hypohidrotic syndrome [↗]
Amelogenesis imperfecta [↗]
Amelogenesis imperfecta and gingival hyperplasia syndrome [↗]
Amelogenesis imperfecta - nephrocalcinosis [↗]
Amelogenesis imperfecta type 1 [↗]
Amelogenesis imperfecta type 2 [↗]
Amelogenesis imperfecta type 3 [↗]
Amelogenesis imperfecta type 4 [↗]
Amelo-onycho-hypohidrotic syndrome [↗]
American trypanosomiasis [↗]
Aminoaciduria, Hartnup type [↗]
Aminopterin embryofetopathy [↗]
Aminopterin syndrome-like sine aminopterin [↗]
Amish brittle hair syndrome [↗]
Amish infantile epilepsy syndrome [↗]
Amish lethal microcephaly [↗]
Amish nemaline myopathy [↗]
AML [↗]
AML-M5 [↗]
AMME complex [↗]
AMME syndrome [↗]
Amniotic bands [↗]
aMOA [↗]
Amoebiasis due to Entamoeba histolytica [↗]
Amoebiasis due to free-living amoebae [↗]
AMP deaminase deficiency [↗]
Ampola syndrome [↗]
Ampulla cardiomyopathy [↗]
AMSAN [↗]
Amylo-1,6-glucosidase deficiency [↗]
Amyloid lichen [↗]
Amyloidosis AA [↗]
Amyloidosis AL [↗]
Amyloidosis, Ostertag type [↗]
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 [↗]
Anal fistula [↗]
Anaphylactoid purpura [↗]
Anaplastic astrocytoma [↗]
Anaplastic ependymoma [↗]
Anaplastic ganglioglioma [↗]
Anaplastic large cell lymphoma [↗]
Anaplastic/large cell medulloblastoma [↗]
Anaplastic oligoastrocytoma [↗]
Anaplastic oligodendroglioma [↗]
Anaplastic thyroid carcinoma [↗]
Anauxetic dysplasia [↗]
Ancylostomiasis [↗]
Andermann syndrome [↗]
Andersen cardiodysrythmic periodic paralysis [↗]
Andersen disease [↗]
Andersen syndrome [↗]
Andersen-Tawil syndrome [↗]
Anderson disease [↗]
Anderson-Fabry disease [↗]
Androblastoma [↗]
Androgen insensitivity syndrome [↗]
Androgen resistance syndrome [↗]
ANEC [↗]
Anemia due to adenosine triphosphatase deficiency [↗]
ANE syndrome [↗]
Aneurysmal subarachnoid hemorrhage [↗]
Aneurysm of sinus of Valsalva [↗]
Aneurysm or dilation of ascending aorta [↗]
Angelman syndrome [↗]
Angelman syndrome due to maternal 15q11q13 deletion [↗]
Angelman syndrome due to maternal monosomy 15q11q13 [↗]
Angelman syndrome due to paternal uniparental disomy of chromosome 15 [↗]
Angel-shaped phalango-epiphyseal dysplasia [↗]
Angiocentric glioma [↗]
Angiodysgenetic necrotizing myelopathy [↗]
Angiofollicular ganglionic hyperplasia [↗]
Angiofollicular lymph hyperplasia [↗]
Angioimmunoblastic T-cell lymphoma [↗]
Angio-osteohypertrophic syndrome [↗]
Angio-osteohypotrophic syndrome [↗]
Angiosarcoma [↗]
Angiostrongyliasis [↗]
Anguillulosis [↗]
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema [↗]
Anhidrotic ectodermic dysplasia - cleft lip/palate [↗]
Aniridia [↗]
Aniridia - absent patella [↗]
Aniridia - cerebellar ataxia - intellectual deficit [↗]
Aniridia-intellectual deficit syndrome [↗]
Aniridia - ptosis - intellectual deficit - familial obesity [↗]
Aniridia - renal agenesis - psychomotor retardation [↗]
Anisakiasis [↗]
Ankyloblepharon - ectodermal defects - cleft lip/palate [↗]
Ankyloblepharon filiforme adnatum - cleft palate [↗]
Ankyloblepharon filiforme - imperforate anus [↗]
Ankylosing vertebral hyperostosis with tylosis [↗]
Ankylosis of teeth [↗]
Ankylostomiasis [↗]
Annular atrophic lichen planus [↗]
Annular atrophic LP [↗]
Annular epidermolytic ichthyosis [↗]
Annular lichen planus [↗]
Annular LP [↗]
Annular pancreas [↗]
Annuloaortic ectasia [↗]
Anodontia [↗]
Anomalous dysplasia of dentin [↗]
Anomaly of the mitral subvalvular apparatus [↗]
Anomaly of the tricuspid subvalvular apparatus [↗]
Anomaly of the tricuspid valve chordae [↗]
Anonychia [↗]
Anonychia congenita totalis [↗]
Anonychia - microcephaly [↗]
Anonychia - onychodystrophy [↗]
Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges [↗]
Anonychia with flexural pigmentation [↗]
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 plus syndrome [↗]
Anophthalmia - pulmonary hypoplasia [↗]
Anophthalmia - syndactyly [↗]
ANOTHER syndrome [↗]
Anotia [↗]
Antecubital pterygium syndrome [↗]
Antenatal Bartter syndrome [↗]
Antenatal Epstein-Barr virus infection [↗]
Antenatal multiminicore disease with congenital arthrogryposis multiplex [↗]
Anterior encephalocele [↗]
Anterior pituitary hypophysitis [↗]
Anterior polar cataract [↗]
Anterior subcapsular cataract [↗]
Anthracycline extravasations [↗]
Anti-glomerular basement membrane antibody-mediated disease [↗]
Anti-HLA hyperimmunization [↗]
Antinolo-Nieto-Borrego syndrome [↗]
Antiphospholipid Antibody Syndrome [↗]
Antiphospholipid syndrome [↗]
Anti-SRP myopathy [↗]
Antisynthetase syndrome [↗]
Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis [↗]
Antley-Bixler syndrome [↗]
Antley-Bixler syndrome type 1 [↗]
Antley-Bixler syndrome type 2 [↗]
AOA1 [↗]
AOA2 [↗]
AOI [↗]
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 dilatation - joint hypermobility - arterial tortuosity [↗]
Aortic valve atresia [↗]
Aortic valve dysplasia [↗]
Aorto-left ventricular tunnel [↗]
Aorto-pulmonary coronary arterial course [↗]
Aorto-right ventricular tunnel [↗]
Aorto-ventricular tunnel [↗]
AOS [↗]
AP4 deficiency syndrome [↗]
APC-related AFAP [↗]
APC-related attenuated familial adenomatous polyposis [↗]
APC-related attenuated familial polyposis coli [↗]
APC-related attenuated FAP [↗]
APECED syndrome [↗]
Apert syndrome [↗]
Apertura pyriformis with holoprosencephaly [↗]
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis [↗]
Aphalangy - syndactyly - microcephaly [↗]
Apical ballooning syndrome [↗]
Aplasia cutis congenita - epibulbar dermoids [↗]
Aplasia cutis congenita - intestinal lymphangiectasia [↗]
Aplasia Cutis Congenita Verticis [↗]
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 [↗]
Apnea of prematurity [↗]
Apolipoprotein AI amyloidosis [↗]
Apolipoprotein A-I deficiency [↗]
Apolipoprotein AII amyloidosis [↗]
Apolipoprotein C-II deficiency [↗]
Apparent mineralocorticoid excess [↗]
Apple peel syndrome [↗]
Aprosencephaly cerebellar dysgenesis [↗]
APS [↗]
APS1 [↗]
APS2 [↗]
APS3 [↗]
APS4 [↗]
APS type 2 [↗]
APS type 3 [↗]
APS type 4 [↗]
APV/ADA, Fallot type [↗]
APV/PDA, non Fallot-type [↗]
Arachnodactyly - abnormal ossification - intellectual deficit [↗]
Arachnodactyly - intellectual deficit - dysmorphism [↗]
Arachnoid cyst [↗]
Arachnoiditis [↗]
Arbovirus fever [↗]
ARCA1 [↗]
ARCL1 [↗]
ARCL2 [↗]
AR-CMT1 [↗]
AR-CMT2 [↗]
AR-CMT2B1 [↗]
AR-CMT2B2 [↗]
AR-CMT2C [↗]
ARCMT2K [↗]
AR-CNM [↗]
ARC syndrome [↗]
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 synthase deficiency [↗]
Argininosuccinate synthetase deficiency [↗]
Argininosuccinic acid synthase deficiency [↗]
Argininosuccinic acid synthetase deficiency [↗]
Argininosuccinic aciduria [↗]
Argyria [↗]
Argyrophilic grain disease [↗]
Arhinia - choanal atresia - microphthalmia [↗]
Arias syndrome [↗]
Arima syndrome [↗]
Arkless-Graham syndrome [↗]
Armfield syndrome [↗]
Arndt-Gottron disease [↗]
Arnold-Chiari malformation type 1 [↗]
Arnold-Chiari malformation type 2 [↗]
Arnold-Chiari malformation type I [↗]
Arnold-Chiari malformation type II [↗]
Aromatase deficiency [↗]
Aromatase excess syndrome [↗]
Aromatic L-aminoacid decarboxylase deficiency [↗]
arPEO [↗]
Arrhenoblastoma [↗]
Arrhinia [↗]
Arrhythmogenic right ventricular cardiomyopathy [↗]
Arrhythmogenic right ventricular dysplasia [↗]
ARSACS [↗]
ARSB deficiency [↗]
Arterial dissection - lentiginosis [↗]
Arterial tortuosity syndrome [↗]
Arteriohepatic dysplasia [↗]
Arteriohepatic dysplasia due to a JAG1 point mutation [↗]
Arteriohepatic dysplasia due to a NOTCH2 point mutation [↗]
Arteriohepatic dysplasia due to monosomy 20p12 [↗]
Arteriovenous malformation of the limb [↗]
Arteriovenous malformation of the limbs [↗]
Arteriovenous malformation of the trunk [↗]
Arthritis urethritica [↗]
Arthrogryposis due to muscular dystrophy [↗]
Arthrogryposis - ectodermal dysplasia - other anomalies [↗]
Arthrogryposis - epileptic seizures - migrational brain disorder [↗]
Arthrogryposis - hyperkeratosis, lethal form [↗]
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 [↗]
Arthropathy-camptodactyly syndrome [↗]
Arts syndrome [↗]
ARVC [↗]
ARVD [↗]
Arylsulfatase A deficiency [↗]
Arylsulfatase B deficiency [↗]
ASAN [↗]
ASB deficiency [↗]
Asbestos intoxication [↗]
Asbestosis [↗]
Ascher syndrome [↗]
ASD [↗]
ASD, coronary sinus type [↗]
ASD, ostium primum type [↗]
ASD, ostium secundum type [↗]
ASD, sinus venosus 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 [↗]
Aspergillosis [↗]
Asphyxiating thoracic dystrophy of the newborn [↗]
ASSA [↗]
ASS deficiency [↗]
Astley-Kendall dysplasia [↗]
Astroblastoma [↗]
Astrocytic tumor [↗]
Astrocytoma [↗]
Asymmetric crying facies [↗]
Ataxia-deafness-retardation syndrome [↗]
Ataxia - delayed dentition - hypomyelination [↗]
Ataxia - diabetes - goiter - gonadal insufficiency [↗]
Ataxia - hypogonadism - choroidal dystrophy [↗]
Ataxia - oculomotor apraxia type 1 [↗]
Ataxia - oculomotor apraxia type 2 [↗]
Ataxia - pancytopenia [↗]
Ataxia - photosensitivity - short stature [↗]
Ataxia - tapetoretinal degeneration [↗]
Ataxia-telangectasia-like disorder [↗]
Ataxia-telangiectasia [↗]
Ataxia-telangiectasia, variant 1 [↗]
Ataxia - tonic upward deviation of eyes [↗]
Ataxo-opso-myoclonus syndrome [↗]
Atelencephaly [↗]
Atelosteogenesis I [↗]
Atelosteogenesis type II [↗]
Atelosteogenesis type III [↗]
Athabaskan brainstem dysgenesis syndrome [↗]
Atherosclerosis- deafness - diabetes - epilepsy - nephropathy [↗]
Athyreosis [↗]
ATIC deficiency [↗]
Atkin-Flaitz syndrome [↗]
ATLD [↗]
ATMDS [↗]
ATM/TM [↗]
Atopic keratoconjunctivitis [↗]
ATR-16 syndrome [↗]
Atransferrinemia [↗]
Atresia of small intestine [↗]
Atresia of urethra [↗]
Atrial cardiomyopathy with heart block [↗]
Atrial septal defect [↗]
Atrial septal defect - atrioventricular conduction defects [↗]
Atrial septal defect, coronary sinus type [↗]
Atrial septal defect, ostium primum type [↗]
Atrial septal defect, ostium secundum type [↗]
Atrial septal defect, sinus venosus type [↗]
Atrial septum aneurysm [↗]
Atrial stand still [↗]
Atrial tachyarrhythmia with short PR interval [↗]
Atrichia - mental and growth delay [↗]
Atrichia with papular lesions [↗]
Atrichie papulaire [↗]
Atrio-digital dysplasia, Slovenian type [↗]
Atriodigital dysplasia type 1 [↗]
Atriodigital dysplasia type 2 [↗]
Atriodigital dysplasia type 3 [↗]
Atrioventricular defect - blepharophimosis -radial defects [↗]
Atrophia areata [↗]
Atrophia bulborum hereditaria [↗]
Atrophic lichen planus [↗]
Atrophic LP [↗]
Atrophoderma vermiculata [↗]
AT/RT [↗]
ATRUS syndrome [↗]
ATR-X syndrome [↗]
ATS [↗]
ATS-MR [↗]
Attenuated familial adenomatous polyposis [↗]
Attenuated familial polyposis coli [↗]
Attenuated FAP [↗]
ATTR cardiomyopathy [↗]
AT V1 [↗]
Atypical arterial duct [↗]
Atypical autism [↗]
Atypical chronic myeloid leukemia [↗]
Atypical coarctation of aorta [↗]
Atypical HCS [↗]
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 syndrome with MCP/CD46 anomaly [↗]
Atypical hemolytic uremic syndrome with thrombomodulin anomaly [↗]
Atypical hypotonia - cystinuria syndrome [↗]
Atypical lichen myxedematosus [↗]
Atypical Mayer-Rokitansky-Küster-Hauser syndrome [↗]
Atypical MRKH syndrome [↗]
Atypical Norrie disease due to del(X)(p11.3) [↗]
Atypical Norrie disease due to monosomy Xp11.3 [↗]
Atypical Norrie disease due to Xp11.3 microdeletion [↗]
Atypical pantothenate kinase associated neurodegeneration [↗]
Atypical papilloma of choroid plexus [↗]
Atypical patent ductus arteriosus [↗]
Atypical phenylketonuria [↗]
Atypical PKU [↗]
Atypical progressive supranuclear palsy [↗]
Atypical PSP [↗]
Atypical Rett syndrome [↗]
Atypical Rokitansky syndrome [↗]
Atypical RTT [↗]
Atypical teratoid/rhabdoid tumor [↗]
Atypical teratoid tumor [↗]
Atypical tuberous myxedema of Jadassohn-Dosseker [↗]
Atypical Werner syndrome [↗]
Atypical X-linked achromatopsia [↗]
Aughton-Hufnagle syndrome [↗]
Aural atresia - multiple congenital anomalies - intellectual deficit [↗]
Auralcephalosyndactyly [↗]
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 [↗]
Austin type juvenile sulfatidosis [↗]
Autism - facial port-wine stain [↗]
Autoimmune Addison's disease [↗]
Autoimmune enteropathy [↗]
Autoimmune enteropathy type 1 [↗]
Autoimmune enteropathy type 2 [↗]
Autoimmune enteropathy type 3 [↗]
Autoimmune hemolytic anemia, warm type [↗]
Autoimmune hepatitis [↗]
Autoimmune hypoparathyroidism [↗]
Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease [↗]
Autoimmune lymphoproliferative syndrome [↗]
Autoimmune lymphoproliferative syndrome type 4 [↗]
Autoimmune lymphoproliferative syndrome type IV [↗]
Autoimmune lymphoproliferative syndrome with recurrent infections [↗]
Autoimmune myasthenia gravis [↗]
Autoimmune necrotizing myopathy [↗]
Autoimmune pancreatitis [↗]
Autoimmune pancreatitis type 1 [↗]
Autoimmune pancreatitis type 2 [↗]
Autoimmune polyendocrine syndrome type 1 [↗]
Autoimmune polyendocrine syndrome type 2 [↗]
Autoimmune polyendocrine syndrome type 3 [↗]
Autoimmune polyendocrine syndrome type 4 [↗]
Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome [↗]
Autoimmune polyendocrinopathy type 1 [↗]
Autoimmune polyendocrinopathy type 2 [↗]
Autoimmune polyendocrinopathy type 3 [↗]
Autoimmune polyendocrinopathy type 4 [↗]
Autoimmune polyglandular syndrome type 1 [↗]
Autoimmune polyglandular syndrome type 2 [↗]
Autoimmune polyglandular syndrome type 3 [↗]
Autoimmune polyglandular syndrome type 4 [↗]
Autoimmune thrombocytopenia [↗]
Autoimmune thyroid disease and/or type 1 diabetes - Addison's disease [↗]
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency [↗]
Autosomal agammaglobulinemia [↗]
Autosomal dominant Alport syndrome [↗]
Autosomal dominant axonal Charcot-Marie-Tooth disease [↗]
Autosomal dominant BECRS [↗]
Autosomal dominant benign distal spinal muscular atrophy [↗]
Autosomal dominant brachyolmia [↗]
Autosomal dominant centronuclear myopathy [↗]
Autosomal dominant cerebellar ataxia type 1 [↗]
Autosomal dominant cerebellar ataxia type 3 [↗]
Autosomal dominant cerebellar ataxia type 4 [↗]
Autosomal dominant cerebellar ataxia type I [↗]
Autosomal dominant cerebellar ataxia type III [↗]
Autosomal dominant cerebellar ataxia type IV [↗]
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 Charcot-Marie-Tooth disease type 2M [↗]
Autosomal dominant Charcot-Marie-Tooth disease type 2N [↗]
Autosomal dominant chorioretinopathy - microcephaly [↗]
Autosomal dominant coarctation of aorta [↗]
Autosomal dominant congenital benign spinal muscular atrophy [↗]
Autosomal dominant cortical myoclonus and epilepsy [↗]
Autosomal dominant cutis laxa [↗]
Autosomal dominant cystoid macular edema [↗]
Autosomal dominant demyelinating Charcot-Marie-Tooth disease [↗]
Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type [↗]
Autosomal dominant distal juvenile spinal muscular atrophy type 1 [↗]
Autosomal dominant dopa-responsive dystonia [↗]
Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type [↗]
Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types [↗]
Autosomal dominant dystrophic epidermolysis bullosa, Pasini type [↗]
Autosomal dominant Emery-Dreifuss muscular dystrophy [↗]
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures [↗]
Autosomal dominant familial spastic paraplegia type 1 [↗]
Autosomal dominant familial spastic paraplegia type 2 [↗]
Autosomal dominant familial spastic paraplegia type 3 [↗]
Autosomal dominant focal dystonia, DYT7 type [↗]
Autosomal dominant gingival fibromatosis [↗]
Autosomal dominant hereditary hemochromatosis [↗]
Autosomal dominant HIES [↗]
Autosomal dominant hyper IgE syndrome [↗]
Autosomal dominant hyperimmunoglobulin E syndrome [↗]
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency [↗]
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency [↗]
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency [↗]
Autosomal dominant hyperinsulinism due to SUR1 deficiency [↗]
Autosomal dominant hypocalcemia [↗]
Autosomal dominant hypodontia [↗]
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 isolated neurosensory deafness type DFNA [↗]
Autosomal dominant isolated neurosensory hearing loss type DFNA [↗]
Autosomal dominant isolated sensorineural deafness type DFNA [↗]
Autosomal dominant isolated sensorineural hearing loss type DFNA [↗]
Autosomal dominant Kenny-Caffey syndrome [↗]
Autosomal dominant late-onset retinal degeneration [↗]
Autosomal dominant lateral temporal lobe epilepsy [↗]
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 limb-girdle muscular dystrophy type 1H [↗]
Autosomal dominant macrothrombocytopenia [↗]
Autosomal dominant medullary cystic kidney disease with hyperuricemia [↗]
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia [↗]
Autosomal dominant medullary cystic kidney disease without hyperuricemia [↗]
Autosomal dominant microcephaly [↗]
Autosomal dominant multiple pterygium syndrome [↗]
Autosomal dominant myoglobinuria [↗]
Autosomal dominant nail dysplasia [↗]
Autosomal dominant nephronophthisis [↗]
Autosomal dominant nocturnal frontal lobe epilepsy [↗]
Autosomal dominant nonsyndromic intellectual deficit [↗]
Autosomal dominant nonsyndromic neurosensory deafness type DFNA [↗]
Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA [↗]
Autosomal dominant nonsyndromic sensorineural deafness type DFNA [↗]
Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA [↗]
Autosomal dominant omodysplasia [↗]
Autosomal dominant optic atrophy and cataract [↗]
Autosomal dominant optic atrophy and congenital deafness [↗]
Autosomal dominant optic atrophy and late-onset deafness [↗]
Autosomal dominant optic atrophy and peripheral neuropathy [↗]
Autosomal dominant optic atrophy, classic type [↗]
Autosomal dominant optic atrophy, Kjer type [↗]
Autosomal dominant optic atrophy plus syndrome [↗]
Autosomal dominant optic atrophy type 3 [↗]
Autosomal dominant osteopetrosis type 1 [↗]
Autosomal dominant osteosclerosis, Stanescu type [↗]
Autosomal dominant osteosclerosis, Worth type [↗]
Autosomal dominant palmoplantar keratoderma and congenital alopecia [↗]
Autosomal dominant periodic fever [↗]
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis [↗]
Autosomal dominant popliteal pterygium syndrome [↗]
Autosomal dominant prognathism [↗]
Autosomal dominant progressive external ophthalmoplegia [↗]
Autosomal dominant progressive nephropathy with hypertension [↗]
Autosomal dominant pseudohypoaldosteronism type 1 [↗]
Autosomal dominant renal tubular acidosis [↗]
Autosomal dominant rhegmatogenous retinal detachment [↗]
Autosomal dominant Robinow syndrome [↗]
Autosomal dominant secondary erythrocytosis [↗]
Autosomal dominant secondary polycythemia [↗]
Autosomal dominant Segawa syndrome [↗]
Autosomal dominant severe congenital neutropenia [↗]
Autosomal dominant spastic ataxia [↗]
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 type 7 [↗]
Autosomal dominant spondylocostal dysostosis [↗]
Autosomal dominant spondylocostal dysplasia [↗]
Autosomal dominant striatal neurodegeneration [↗]
Autosomal dominant striatonigral degeneration [↗]
Autosomal dominant vitreoretinochoroidopathy [↗]
Autosomal recessive acrofacial dysostosis [↗]
Autosomal recessive Alport syndrome [↗]
Autosomal recessive amelia [↗]
Autosomal recessive aplasia cutis [↗]
Autosomal recessive ataxia, Beauce type [↗]
Autosomal recessive ataxia due to coenzyme Q10 deficiency [↗]
Autosomal recessive ataxia due to PEX10 deficiency [↗]
Autosomal recessive ataxia due to ubiquinone deficiency [↗]
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 [↗]
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 [↗]
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K [↗]
Autosomal recessive axonal Charcot-Marie-Tooth disease type 4C [↗]
Autosomal recessive axonal CMT4C1 [↗]
Autosomal recessive axonal CMT4C2 [↗]
Autosomal recessive axonal CMT4C3 [↗]
Autosomal recessive axonal CMT4C4 [↗]
Autosomal recessive bestrophinopathy [↗]
Autosomal recessive carpotarsal osteolysis [↗]
Autosomal recessive centronuclear myopathy [↗]
Autosomal recessive cerebellar ataxia - blindness - deafness [↗]
Autosomal recessive cerebellar ataxia - saccadic intrusion [↗]
Autosomal recessive cerebellar ataxia type 1 [↗]
Autosomal recessive cerebelloparenchymal disorder type 3 [↗]
Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type [↗]
Autosomal recessive Charcot-Marie-Tooth disease type 2B1 [↗]
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [↗]
Autosomal recessive chorioretinopathy - microcephaly [↗]
Autosomal recessive complex spastic paraplegia [↗]
Autosomal recessive congenital hypomyelinating neuropathy [↗]
Autosomal recessive congenital sideroblastic anemia [↗]
Autosomal recessive cutis laxa, Debré type [↗]
Autosomal recessive cutis laxa, pulmonary emphysema type [↗]
Autosomal recessive cutis laxa type 1 [↗]
Autosomal recessive cutis laxa type 2 [↗]
Autosomal recessive cutis laxa with severe systemic involvement [↗]
Autosomal recessive demyelinating Charcot-Marie-Tooth [↗]
Autosomal recessive distal osteolysis syndrome [↗]
Autosomal recessive dopa-responsive dystonia [↗]
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis [↗]
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis [↗]
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type [↗]
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type [↗]
Autosomal recessive early-onset IBD [↗]
Autosomal recessive early-onset inflammatory bowel disease [↗]
Autosomal recessive Emery-dreifuss muscular dystrophy [↗]
Autosomal recessive epidermolysis bullosa simplex [↗]
Autosomal recessive facio-digito-genital syndrome [↗]
Autosomal recessive HIES [↗]
Autosomal recessive hyper IgE syndrome [↗]
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency [↗]
Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency [↗]
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency [↗]
Autosomal recessive hyperinsulinism due to SUR1 deficiency [↗]
Autosomal recessive hypodontia [↗]
Autosomal recessive hypohidrotic ectodermal dysplasia [↗]
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A [↗]
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B [↗]
Autosomal recessive intermediate osteopetrosis [↗]
Autosomal recessive isolated neurosensory deafness type DFNB [↗]
Autosomal recessive isolated sensorineural deafness type DFNB [↗]
Autosomal recessive Kenny-Caffey syndrome [↗]
Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency [↗]
Autosomal recessive limb-girdle muscular dystrophy - dystroglycanopathy type C7 [↗]
Autosomal recessive limb girdle muscular dystrophy type 2A [↗]
Autosomal recessive limb-girdle muscular dystrophy type 2B [↗]
Autosomal recessive limb-girdle muscular dystrophy type 2C [↗]
Autosomal recessive limb-girdle muscular dystrophy type 2D [↗]
Autosomal recessive limb-girdle muscular dystrophy type 2E [↗]
Autosomal recessive limb-girdle muscular dystrophy type 2F [↗]
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 limb-girdle muscular dystrophy type 2O [↗]
Autosomal recessive lower motor neuron disease with childhood onset [↗]
Autosomal recessive lymphoproliferative disease [↗]
Autosomal recessive malignant osteopetrosis [↗]
Autosomal recessive medullary cystic kidney disease [↗]
Autosomal recessive metaphyseal chondrodysplasia [↗]
Autosomal recessive multiple pterygium syndrome [↗]
Autosomal recessive nail dysplasia [↗]
Autosomal recessive nephronophthisis [↗]
Autosomal recessive nonsyndromic intellectual deficit [↗]
Autosomal recessive nonsyndromic neurosensory deafness type DFNB [↗]
Autosomal recessive nonsyndromic sensorineural deafness type DFNB [↗]
Autosomal recessive omodysplasia [↗]
Autosomal recessive optic atrophy, OPA6 type [↗]
Autosomal recessive optic atrophy, OPA7 type [↗]
Autosomal recessive optic atrophy type 3 [↗]
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia [↗]
Autosomal recessive osteopetrosis type 7 [↗]
Autosomal recessive palmoplantar keratoderma and congenital alopecia [↗]
Autosomal recessive polycystic kidney disease [↗]
Autosomal recessive posterior column ataxia and retinitis pigmentosa [↗]
Autosomal recessive primary microcephaly [↗]
Autosomal recessive progressive external ophthalmoplegia [↗]
Autosomal recessive pseudohypoaldosteronism type 1 [↗]
Autosomal recessive pure spastic paraplegia [↗]
Autosomal recessive pyridoxine-refractory sideroblastic anemia [↗]
Autosomal recessive renal tubular acidosis [↗]
Autosomal recessive Robinow syndrome [↗]
Autosomal recessive secondary erythrocytosis, non Chuvash type [↗]
Autosomal recessive secondary erythrocytosis not associated with VHL gene [↗]
Autosomal recessive secondary polycythemia, non Chuvash type [↗]
Autosomal recessive secondary polycythemia not associated with VHL gene [↗]
Autosomal recessive Segawa syndrome [↗]
Autosomal recessive sensory radicular neuropathy [↗]
Autosomal recessive spastic ataxia - optic atrophy - dysarthria [↗]
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 Stickler syndrome [↗]
Autosomal thrombocytopenia with normal platelets [↗]
AVED [↗]
Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities [↗]
Axenfeld-Rieger syndrome [↗]
Axenfeld's anomaly [↗]
Axenfeld syndrome [↗]
Axial mesodermal dysplasia spectrum [↗]
Axial osteosclerosis [↗]
Axial spondylometaphyseal dysplasia [↗]
Axonal Charcot-Marie-Tooth disease with acrodystrophy [↗]
Axonal Charcot-Marie-Tooth disease with pyramidal involvement [↗]
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy [↗]
Ayazi syndrome [↗]
Azoospermia due to maturation arrest [↗]
Azoospermia due to meiosis defect [↗]
Azoospermia - sinopulmonary infections [↗]
Azorean disease of the nervous system [↗]
Azygos continuation of the inferior caval vein [↗]
Azygos continuation of the inferior vena cava [↗]
Azygos continuation of the IVC [↗]