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Disease	Synonyms	Description
anauxetic dysplasia 3		A spondyloepimetaphyseal dysplasia that is charact..[+] A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. [-]
acute myeloid leukemia with BCR-ABL1	Acute myeleoid leukemia with BCR-ABL1	An acute myeloid leukemia that is characterized by..[+] An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. [-]
arthrogryposis multiplex congenita-1		An arthrogryposis multiplex congenita that has_mat..[+] An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. [-]
arthrogryposis multiplex congenita-3		An arthrogryposis multiplex congenita that is char..[+] An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. [-]
arthrogryposis multiplex congenita-4	Zain syndrome	An arthrogryposis multiplex congenita that has_mat..[+] An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. [-]
arthrogryposis multiplex congenita-5		An arthrogryposis multiplex congenita that has_mat..[+] An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. [-]
autoimmune epilepsy		An epilepsy that is characterized by new-onset ref..[+] An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. [-]
acute necrotizing pancreatitis		An acute pancreatitis that is characterized by one..[+] An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. [-]
A53 diffuse large B-cell lymphoma	A53 DLBCL	A diffuse large B-cell lymphoma that is characteri..[+] A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. [-]
acute myeloid leukemia with t(6;9) (p23;q34.1)	acute myeloid leukemia with t(6; Acute Myeloid Leu.. [+] acute myeloid leukemia with t(6; Acute Myeloid Leukemia with t(6; 9) (p23; q34.1); DEK-NUP214; 9)(p23; q34); DEK-NUP214 [-]	An acute myeloid leukemia associated with t(6; 9)(..[+] An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. [-]
acute promyelocytic leukemia with PML-RARA	acute promyelocytic leukemia, t(15; 17)(q22; q11-1.. [+] acute promyelocytic leukemia, t(15; 17)(q22; q11-12) [-]	An acute promyelocytic leukemia that is characteri..[+] An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. [-]
acute myelomonocytic leukemia		An acute myeloid leukemia that is characterized by..[+] An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. [-]
acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)	Acute myeloid leukemia with inv(3)(q21; Acute Myel.. [+] Acute myeloid leukemia with inv(3)(q21; Acute Myeloid Leukemia with inv(3) (q21.3; q26.2) or t(3; 3) (q21.3; q26.2); GATA2, MECOM; q26.2) or t(3; 3)(q21; q26.2); RPN1-EVI1 [-]	An acute myeloid leukemia associated with inv(3)(q..[+] An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. [-]
acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)	Acute Myeloid Leukemia with inv(16)(p13.1q22) or t.. [+] Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16; acute myeloid leukemia with abnormal marrow eosinophils; 16)(p13.1; q22); CBFB-MYH11 [-]	An acute myeloid leukemia that is characterized by..[+] An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. [-]
acute myeloid leukemia with minimal differentiation	AML-M0; Acute myeloid leukemia, minimal differenti.. [+] AML-M0; Acute myeloid leukemia, minimal differentiation [-]	An acute myeloid leukemia in which the blasts do n..[+] An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. [-]
acute myeloid leukemia without maturation		An acute myeloid leukemia that is characterized by..[+] An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. [-]
acute myeloid leukemia with maturation		An acute myeloid leukemia characterized by blasts ..[+] An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. [-]
acute myeloid leukemia with mutated NPM1		An acute myeloid leukemia with mutation of the nuc..[+] An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. [-]
acute myeloid leukemia with mutated RUNX1		An acute myeloid leukemia that is characterized by..[+] An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. [-]
acute myeloid leukemia with myelodysplasia-related changes		An acute myeloid leukemia with at least 20% blasts..[+] An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. [-]
acute myeloid leukemia with t(8;21); (q22; q22.1)	acute myeloid leukemia, t(8; Acute Myeloid Leukemi.. [+] acute myeloid leukemia, t(8; Acute Myeloid Leukemia with t(8; 21); (q22; q22.1); RUNX1-RUNX1T1; 21)(q22; q22) [-]	An acute myeloid leukemia associated with t(8; 21)..[+] An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. [-]
acute myeloid leukemia with mutated CEBPA		An acute myeloid leukemia with non-germline mutati..[+] An acute myeloid leukemia with non-germline mutations of the CEBPA gene. [-]
acute myeloid leukemia with t(1;22)(p13;q13)	Acute Myeloid Leukemia (Megakaryoblastic) with t(1.. [+] Acute Myeloid Leukemia (Megakaryoblastic) with t(1; 22)(p13.3; q13.1); RBM15-MKL1 [-]	An acute myeloid leukemia typically showing megaka..[+] An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. [-]
autosomal recessive intellectual developmental disorder 13		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24. [-]
agammaglobulinemia 2		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. [-]
agammaglobulinemia 1		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. [-]
agammaglobulinemia 3		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. [-]
agammaglobulinemia 6		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. [-]
agammaglobulinemia 7		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. [-]
agammaglobulinemia 8A		An agammaglobulinemia that has_material_basis_in h..[+] An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. [-]
agammaglobulinemia 10		An agammaglobulinemia that is characterized by ear..[+] An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. [-]
agammaglobulinemia 8B		An agammaglobulinemia that is characterized by ons..[+] An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. [-]
autosomal recessive intellectual developmental disorder 1		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. [-]
autosomal recessive intellectual developmental disorder 2		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. [-]
autosomal recessive intellectual developmental disorder 3		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. [-]
autosomal recessive intellectual developmental disorder 12		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. [-]
autosomal recessive intellectual developmental disorder 5		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. [-]
autosomal recessive intellectual developmental disorder 6		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. [-]
autosomal recessive intellectual developmental disorder 7		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. [-]
autosomal recessive intellectual developmental disorder 9/26		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. [-]
autosomal recessive intellectual developmental disorder 10/20		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. [-]
autosomal recessive intellectual developmental disorder 11		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. [-]
autosomal recessive intellectual developmental disorder 14		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. [-]
autosomal recessive intellectual developmental disorder 16		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. [-]
autosomal recessive intellectual developmental disorder 18		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. [-]
autosomal recessive intellectual developmental disorder 29		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. [-]
autosomal recessive intellectual developmental disorder 27		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. [-]
autosomal recessive intellectual developmental disorder 33		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. [-]
autosomal recessive intellectual developmental disorder 30		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. [-]
autosomal recessive intellectual developmental disorder 23		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. [-]

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