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Disease	Synonyms	Description
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 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 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(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. [-]
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 9		An agammaglobulinemia that is characterized by rec..[+] An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. [-]
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 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 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 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 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 24		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in inkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. [-]
autosomal recessive intellectual developmental disorder 37		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. [-]
autosomal recessive intellectual developmental disorder 41		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. [-]
autosomal recessive intellectual developmental disorder 45		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. [-]
autosomal recessive intellectual developmental disorder 52		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. [-]
autosomal recessive intellectual developmental disorder 56		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. [-]
autosomal recessive intellectual developmental disorder 60		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. [-]
autosomal recessive intellectual developmental disorder 65		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. [-]
autosomal recessive intellectual developmental disorder 68		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. [-]
autosomal recessive intellectual developmental disorder 76		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. [-]
acromesomelic dysplasia-3	Demirhan-type acromesomelic dysplasia	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. [-]
astrocytoma, IDH-mutant, grade 2		An IDH-mutant anaplastic astrocytoma that is chara..[+] An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. [-]
astrocytoma, IDH-mutant, grade 3		An IDH-mutant anaplastic astrocytoma that is chara..[+] An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. [-]
amyotrophic lateral sclerosis type 25		An amyotrophic lateral sclerosis that is character..[+] An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). [-]
amyotrophic lateral sclerosis type 26		An amyotrophic lateral sclerosis that is character..[+] An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. [-]
agenesis of the corpus callosum with peripheral neuropathy	Andermann syndrome; Charlevoix disease; corpus cal.. [+] Andermann syndrome; Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome [-]	A neurodegenerative disease characterized by autos..[+] A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. [-]
autosomal dominant familial periodic fever	familial hibernian fever; TNF receptor 1-associate.. [+] familial hibernian fever; TNF receptor 1-associated periodic syndrome; tumor necrosis factor receptor 1 associated periodic syndrome [-]	A characterized by autosomal dominant inheritance ..[+] A characterized by autosomal dominant inheritance of recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. [-]
autosomal dominant macrothrombocytopenia TUBB1-related		A thrombocytopenia characterized by autosomal domi..[+] A thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material_basis_in mutation in the TUBB1 gene on chromosome 20q13.3. [-]
autosomal recessive hypercholesterolemia	autosomal recessive hypercholesterolemia 2; autoso.. [+] autosomal recessive hypercholesterolemia 2; autosomal recessive hypercholesterolemia 1; ARH2; ARH1; ARH; familial autosomal recessive hypercholesterolemia; FHCB1; FHCB2; familial autosomal recessive hypercholesterolemia [-]	A familial hypercholesterolemia that is characteri..[+] A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. [-]
autosomal dominant hypocalcemia 1	HYPOC1	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. [-]
autosomal dominant hypocalcemia 2	HYPOC2	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. [-]
autosomal dominant hypocalcemia	HYPOC	A calcium metabolism disease characterized by auto..[+] A calcium metabolism disease characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. [-]
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	ankyloblepharon-ectodermal defects-cleft lip and p.. [+] ankyloblepharon-ectodermal defects-cleft lip and palate syndrome; AEC syndrome; Hay-Wells syndrome [-]	An ectodermal dysplasia that is characterized by a..[+] An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. [-]
apparent mineralocorticoid excess	APE; 11-beta-hydroxysteroid dehydrogenase deficien.. [+] APE; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; cortisol 11-beta-ketoreductase deficiency; Ulick syndrome [-]	An adrenal gland hyperfunction characterized by de..[+] An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. [-]
aromatase excess syndrome	AEXS; familial hyperestrogenism; hereditary prepub.. [+] AEXS; familial hyperestrogenism; hereditary prepubertal gynecomastia; increased aromatase activity [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]
aromatic L-amino acid decarboxylase deficiency	AADC deficiency	An inherited metabolic disorder characterized by r..[+] An inherited metabolic disorder characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction with onset in infancy or childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DDC gene on chromosome 7p12. [-]
achromatopsia 2	ACHM2; RMCH2; rod monochromacy 2; rod monochromati.. [+] ACHM2; RMCH2; rod monochromacy 2; rod monochromatism 2 [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. [-]
achromatopsia 3	ACHM1; ACHM3; Pingelapese blindness; RMCH1; rod mo.. [+] ACHM3; ACHM1; Pingelapese blindness; RMCH1; rod monochromacy 1; rod monochromatism 1 [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. [-]
achromatopsia 7	ACHM7	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. [-]
achromatopsia 4	ACHM4	An achromatopsia that has material basis in homozy..[+] An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the GNAT2 gene (139340) on chromosome 1p13. [-]
advanced sleep phase syndrome 1	familial advanced sleep phase syndrome 1; FASPS1	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER2 gene on chromosome 2q37. [-]
advanced sleep phase syndrome 2	familial advanced sleep phase syndrome 2; FASPS2	An advanced sleep phase syndrome that has_material..[+] An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. [-]
advanced sleep phase syndrome 3	familial advanced sleep phase syndrome 3; FASPS3	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER3 gene on chromosome 1p36.23. [-]
age related macular degeneration 1	ARMD1; age related maculopathy 1	An age related macular degeneration associated wit..[+] An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. [-]
age related macular degeneration 2	ARMD2	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. [-]
age related macular degeneration 4	ARMD4	An age related macular degeneration conferred by v..[+] An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. [-]
age related macular degeneration 6	ARMD6	An age related macular degeneration conferred by h..[+] An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. [-]

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