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Disease	Synonyms	Description
atrial fibrillation	AFib; A-fib	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. [-]
acrofrontofacionasal dysostosis	AFFN dysostosis; Richieri-Costa-Colletto syndrome; .. [+] AFFN dysostosis; Richieri-Costa-Colletto syndrome [-]	A dysostosis characterized by intellectual disabil..[+] A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. [-]
Adams-Oliver syndrome	Adams Oliver syndrome	A syndrome characterized by defects of the scalp (..[+] A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. [-]
autosomal dominant chondrodysplasia punctata		n_a
autosomal dominant intellectual developmental disorder	autosomal dominant non-syndromic mental retardatio.. [+] autosomal dominant non-syndromic mental retardation; autosomal dominant mental retardation [-]	A intellectual disability characterized by an auto..[+] A intellectual disability characterized by an autosomal dominant inheritance pattern. [-]
autosomal recessive non-syndromic intellectual disability	autosomal recessive non-syndromic mental retardati.. [+] autosomal recessive non-syndromic mental retardation; autosomal recessive mental retardation [-]	A non-syndromic intellectual disability characteri..[+] A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern. [-]
adenoid hypertrophy	adenoidal hypertrophy; enlarged adenoids	An upper respiratory tract disease characterized b..[+] An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing. [-]
angular cheilitis	angular cheilosis; angular stomatitis; cheilosis; .. [+] angular stomatitis; angular cheilosis; cheilosis; commissural cheilitis [-]	A cheilitis characterized by inflammation of one o..[+] A cheilitis characterized by inflammation of one or both of the corners of the mouth. [-]
acute promyelocytic leukemia	acute myeloid leukemia M3; APL; acute myeloblastic.. [+] APL; acute myeloid leukemia M3; acute myeloblastic leukemia type 3 [-]	An acute myeloid leukemia characterized by accumul..[+] An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. [-]
anal fistula		An anus disease characterized by is an abnormal co..[+] An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. [-]
autosomal dominant sideroblastic anemia		A sideroblastic anemia characterized by an autosom..[+] A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. [-]
agnathia-otocephaly complex	agnathia-holoprosencephaly-situs inversus syndrome.. [+] agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephaly [-]	A physical disorder characterized by mandibular hy..[+] A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [-]
acromelic frontonasal dysostosis		A dysostosis characterized by cranium bifidum, sev..[+] A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. [-]
acrodermatitis chronica atrophicans	Herxheimer disease; primary diffuse atrophy	An acrodermatitis characterized by a chronically p..[+] An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. [-]
acrorenal syndrome		A syndrome characterized by limb defects, usually ..[+] A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. [-]
adenine phosphoribosyltransferase deficiency	APRT deficiency; 2,8-dihydroxyadenine urolithiasis.. [+] APRT deficiency; 2,8-dihydroxyadenine urolithiasis [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. [-]
acrofacial dysostosis Cincinnati type		An acrofacial dysostosis characterized by a spectr..[+] An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has material basis in heterozygous mutation in the POLR1A gene on chromosome 2p11. [-]
amyotrophic lateral sclerosis type 22	amyotrophic lateral sclerosis 22; amyotrohpic late.. [+] amyotrophic lateral sclerosis 22; amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia; ALS 22 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. [-]
autosomal dominant Parkinson disease 1		A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1. [-]
autosomal recessive early-onset Parkinson disease 6	early-onset Parkinson disease 6	A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. [-]
autosomal dominant Parkinson disease 8		A Parkinson's disease that has_material_basis_in h..[+] A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12. [-]
autosomal recessive early-onset Parkinson disease 15	pallidopyramidal syndrome; Parkinsonian-pyramidal .. [+] pallidopyramidal syndrome; Parkinsonian-pyramidal syndrome [-]	A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. [-]
acrofacial dysostosis		n_a
acrofacial dysostosis Rodriguez type	acrofacial dysostosis, syndrome of Rodriguez	n_a
acrofacial dysostosis, Catania type	Opitz Mollica Sorge syndrome; Opitz-Caltabiano syn.. [+] Opitz Mollica Sorge syndrome; Opitz-Caltabiano syndrome [-]	n_a
acrofacial dysostosis, Patagonia type		n_a
autoimmune neuropathy		An autoimmune disease of centreal nervous system c..[+] An autoimmune disease of centreal nervous system caused by an autoimmune response. [-]
apple allergy	Malus domestica fruit allergy	A fruit allergy triggered by Malus domestica plant..[+] A fruit allergy triggered by Malus domestica plant fruit food product. [-]
apricot allergy	Prunus armeniaca fruit allergy	A fruit allergy triggered by Prunus armeniaca plan..[+] A fruit allergy triggered by Prunus armeniaca plant fruit food product. [-]
Atlantic cod allergy	Gadus morhua fish allergy	A fish allergy triggered by Gadus morhua.
Atlantic salmon allergy	Salmo salar fish allergy	A fish allergy triggered by Salmo salar.
ablepharon macrostomia syndrome	poikiloderma with neutropenia, Clericuzio type	A syndrome characterized by ablepharon, macrostomi..[+] A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [-]
ataxia with oculomotor apraxia type 3	ataxia-oculomotor apraxia 3	n_a
anomalous left coronary artery from the pulmonary artery	ALCAPA; Bland-White-Garland syndrome; White-Garlan.. [+] ALCAPA; Bland-White-Garland syndrome; White-Garland syndrome [-]	A coronary artery anomaly in which the left corona..[+] A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. [-]
atypical chronic myeloid leukemia, BCR-ABL1 negative	atypical chronic myeloid leukaemia BCR-ABL1 negati.. [+] atypical chronic myeloid leukaemia BCR-ABL1 negative; atypical chronic myeloid leukaemia; atypical CML; atypical chronic myeloid leukemia BCR-ABL1 negative; aCML; subacute granulocytic leukemia; subacute myelogenous leukemia; subacute myeloid leukemia [-]	A myelodysplastic myeloproliferative neoplasm char..[+] A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. [-]
alpha-2-plasmin inhibitor deficiency	antiplasmin defiency; plasmin inhibitor deficiency.. [+] antiplasmin defiency; plasmin inhibitor deficiency [-]	A hemorrhagic disease that has_material_basis_in m..[+] A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. [-]
alpha-methylacyl-CoA racemase deficiency	AMACR deficiency	A peroxisomal disease that is characterized by ret..[+] A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. [-]
ankyloglossia	tongue-tie	A tongue disease characterized by an unusually sho..[+] A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. [-]
anterior segment mesenchymal dysgenesis		n_a
abdominal obesity-metabolic syndrome		n_a
abdominal obesity-metabolic syndrome 3		An abdominal obesity-metabolic syndrome that has_m..[+] An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. [-]
autosomal recessive congenital ichthyosis	ARCI	A skin disease that is characterized by autosomal ..[+] A skin disease that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. [-]
autosomal recessive congenital ichthyosis 1	ARCI1; bathing suit ichthyosis	An autosomal recessive congenital ichthyosis that ..[+] An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. [-]
anencephaly		A congenital nervous system abnormality characteri..[+] A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. [-]
autosomal dominant nocturnal frontal lobe epilepsy	ENFL	A frontal lobe epilepsy that is characterized by a..[+] A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. [-]
autosomal dominant nocturnal frontal lobe epilepsy 1	ENFL1; nocturnal frontal lobe epilepsy 1	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. [-]
autosomal dominant nocturnal frontal lobe epilepsy 2	ENFL2; nocturnal frontal lobe epilepsy 2	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. [-]
autosomal dominant nocturnal frontal lobe epilepsy 3	ENFL3; nocturnal frontal lobe epilepsy 3	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 4	ENFL4; nocturnal frontal lobe epilepsy 4	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 5	ENFL5; nocturnal frontal lobe epilepsy 5	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. [-]

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