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Disease	Synonyms	Description
atypical dopamine transporter deficiency syndrome	atypical DTDS	A dopamine transporter deficiency syndrome charact..[+] A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. [-]
aniridia 1		An aniridia that has_material_basis_in heterozygou..[+] An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. [-]
arrhythmogenic left ventricular cardiomyopathy	ALVC; left ventricular ACM; left-dominant arrhythm.. [+] ALVC; left ventricular ACM; left-dominant arrhythmogenic cardiomyopathy [-]	An intrinsic cardiomyopathy characterized by hypok..[+] An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. [-]
arrhythmogenic biventricular cardiomyopathy	biventricular ACM	An intrinsic cardiomyopathy characterized by hypok..[+] An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. [-]
autosomal recessive spinocerebellar ataxia 34	spinocerebellar ataxia, autosomal recessive 34; ce.. [+] spinocerebellar ataxia, autosomal recessive 34; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; CAMRQ syndrome 3; CAMRQ3; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3; cerebellar ataxia, mental retardation, and disequilibrium syndrome 3; SCAR34 [-]	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. [-]
autosomal dominant nonsyndromic deafness 37	autosomal dominant deafness 37; DFNA37	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. [-]
autosomal dominant nonsyndromic deafness 80	autosomal dominant deafness 80; DFNA80	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11. [-]
autosomal dominant nonsyndromic deafness 82	autosomal dominant deafness 82; DFNA82	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. [-]
autosomal dominant nonsyndromic deafness 84	autosomal dominant deafness 84; DFNA84	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. [-]
autosomal dominant nonsyndromic deafness 85	autosomal dominant deafness 85; DFNA85	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. [-]
autosomal dominant nonsyndromic deafness 87	autosomal dominant deafness 87; DFNA87	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. [-]
autosomal dominant nonsyndromic deafness 90	autosomal dominant deafness 90; DFNA90	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12. [-]
autosomal dominant nonsyndromic deafness 81	autosomal dominant deafness 81; DFNA81	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11. [-]
autosomal dominant nonsyndromic deafness 83	autosomal dominant deafness 83; DFNA83	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. [-]
autosomal dominant nonsyndromic deafness 86	autosomal dominant deafness 86; DFNA86	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11. [-]
autosomal dominant nonsyndromic deafness 88	autosomal dominant deafness 88; DFNA88	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34. [-]
autosomal dominant nonsyndromic deafness 89	autosomal dominant deafness 89; DFNA89	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22. [-]
autoinflammation, antibody deficiency, and immune dysregulation syndrome	autoinflammation and PLCG2-associated antibody def.. [+] autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation; APLAID [-]	An autoimmune disease characterized by recurrent b..[+] An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23. [-]
acute myeloid leukemia with CBFA2T3-GLIS2 fusion	acute myeloid leukemia with inv(16)(p13q24); acute.. [+] acute myeloid leukemia with inv(16)(p13q24); acute myeloid leukemia with CBFA2T3::GLIS2 fusion; Acute myeloid leukaemia with CBFA2T3::GLIS2 fusion; Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2 [-]	An acute myeloid leukemia associated with CBFA2T3-..[+] An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene. [-]
acute myeloid leukemia with KAT6A-CREBBP fusion	Acute myeloid leukemia with t(8; acute myeloid leu.. [+] Acute myeloid leukemia with t(8; acute myeloid leukemia with KAT6A::CREBBP fusion; Acute myeloid leukaemia with KAT6A::CREBBP fusion; 16)(p11; p13) translocation [-]	An acute myeloid leukemia associated with KAT6A-CR..[+] An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion. [-]
acute myeloid leukemia with FUS-ERG fusion	acute myeloid leukemia with t(16; acute myeloid le.. [+] acute myeloid leukemia with t(16; acute myeloid leukemia with FUS::ERG fusion; Acute myeloid leukaemia with FUS::ERG fusion; 21)(p11.2; q22) [-]	An acute myeloid leukemia associated with FUS-ERG ..[+] An acute myeloid leukemia associated with FUS-ERG gene fusion. [-]
acute myeloid leukemia with MNX1-ETV6 fusion	Acute Myeloid Leukemia with t(7; acute myeloid leu.. [+] Acute Myeloid Leukemia with t(7; acute myeloid leukemia with t(7; acute myeloid leukemia with MNX1::ETV6 fusion; Acute myeloid leukaemia with MNX1::ETV6 fusion; 12)(q36; p13); 12)(q36; p13); HLXB9-ETV6 [-]	An acute myeloid leukemia associated with MXN1-ETV..[+] An acute myeloid leukemia associated with MXN1-ETV6 gene fusion. [-]
acute myeloid leukemia with NPM1-MLF1 fusion	acute myeloid leukemia with t(3; acute myeloid leu.. [+] acute myeloid leukemia with t(3; acute myeloid leukemia with NPM1::MLF1 fusion; Acute myeloid leukaemia with NPM1::MLF1 fusion; 5)(q25; q35) [-]	An acute myeloid leukemia associated with NPM1-MLF..[+] An acute myeloid leukemia associated with NPM1-MLF1 gene fusion. [-]
autosomal recessive spinocerebellar ataxia 16	SCAR16	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. [-]
axial osteomalacia		An osteosclerosis that results_in coarsening locat..[+] An osteosclerosis that results_in coarsening located_in trabecular bone. [-]
autosomal recessive spinocerebellar ataxia 18	SCAR18	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. [-]
achondrogenesis		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. [-]
acromesomelic dysplasia		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism. [-]
acromesomelic dysplasia, Maroteaux type	acromesomelic dysplasia-1	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13. [-]
acromesomelic dysplasia, Hunter-Thompson type	acromesomelic dwarfism; acromesomelic dysplasia-2C.. [+] acromesomelic dwarfism; acromesomelic dysplasia-2C [-]	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. [-]
acromesomelic dysplasia, Grebe type	acromesomelic dysplasia-2A; GREBE CHONDRODYSPLASIA.. [+] acromesomelic dysplasia-2A; GREBE CHONDRODYSPLASIA; grebe chondrodysplasia [-]	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11. [-]
achondrogenesis type IA	achondrogenesis Houston-Harris type	An achondrogenesis that results_in abnormal ossifi..[+] An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. [-]
achondrogenesis type IB	achondrogenesis Fraccaro type	An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. [-]
achondrogenesis type II		An achondrogenesis that has_material_basis_in muta..[+] An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. [-]
autosomal recessive spinocerebellar ataxia 15	SCAR15	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. [-]
autosomal recessive spinocerebellar ataxia 14	SCAR14	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. [-]
autosomal recessive spinocerebellar ataxia 7	SCAR7	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. [-]
autosomal recessive spinocerebellar ataxia 12	SCAR12	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. [-]
autosomal recessive spinocerebellar ataxia 2	SCAR2	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. [-]
autosomal recessive spinocerebellar ataxia 13	SCAR13	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. [-]
autosomal recessive spinocerebellar ataxia 11	SCAR11	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32. [-]
autosomal recessive spinocerebellar ataxia 17	SCAR17	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. [-]
autosomal recessive spinocerebellar ataxia 19	Lichtenstein-Knorr syndrome; SCAR19	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. [-]
autosomal recessive spinocerebellar ataxia 20	SCAR20	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. [-]
Alpers-Huttenlocher syndrome	Alpers' disease or gray-matter degeneration; Alper.. [+] Alpers' disease or gray-matter degeneration; Alper's syndrome; Alpers syndrome; Alpers progressive infantile poliodystrophy; Alpers disease; Alpers-Huttenlocher syndrome; Diffuse Cerebral Sclerosis of Schilder; mitochondrial DNA depletion syndrome 4a; progressive sclerosing poliodystrophy; Polg disease [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26. [-]
adult acute monocytic leukemia		An acute monocytic leukemia occurring in adults.
adrenocorticotropic hormone deficiency		A hypopituitarrium that is characterized by a decr..[+] A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. [-]
adenoid cystic carcinoma		An adenocarcinoma that is characterized by bands o..[+] An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. [-]
autosomal dominant dystrophic epidermolysis bullosa		An epidermolysis bullosa dystrophica that is chara..[+] An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. [-]
amyotrophic lateral sclerosis type 23		An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. [-]

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