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Disease	Synonyms	Description
familial adult myoclonic epilepsy 2	ADCME; autosomal dominant cortical myoclonus and e.. [+] ADCME; autosomal dominant cortical myoclonus and epilepsy; BAFME2; benign adult familial myoclonic epilepsy 2; FCMTE2; FAME2; familial cortical myoclonic tremor and epilepsy 2; [-]	A familial adult myoclonic epilepsy characterized ..[+] A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. [-]
familial adult myoclonic epilepsy 3	FAME3; familial cortical myoclonic tremor and epil.. [+] FAME3; familial cortical myoclonic tremor and epilepsy 3; FCMTE3; [-]	A familial adult myoclonic epilepsy characterized ..[+] A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. [-]
familial adult myoclonic epilepsy 4	FAME4; familial cortical myoclonic tremor and epil.. [+] FAME4; familial cortical myoclonic tremor and epilepsy 4; FCMTE4; [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. [-]
familial adult myoclonic epilepsy 5	FAME5; familial cortical myoclonic tremor and epil.. [+] FAME5; familial cortical myoclonic tremor and epilepsy 5; FCMTE5; [-]	A familial adult myoclonic epilepsy characterized ..[+] A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. [-]
familial adult myoclonic epilepsy 6	benign adult familial myoclonic epilepsy 6; FAME6;.. [+] benign adult familial myoclonic epilepsy 6; FAME6; FCMTE6; BAFME6; familial cortical myoclonic tremor and epilepsy 6; [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. [-]
familial adult myoclonic epilepsy 7	BAFME7; benign adult familial myoclonic epilepsy 7.. [+] BAFME7; benign adult familial myoclonic epilepsy 7; FAME7; familial cortical myoclonic tremor and epilepsy 7; FCMTE7; [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. [-]
familial apolipoprotein A5 deficiency	familial APOA5 deficiency; familial apolipoprotein.. [+] familial APOA5 deficiency; familial apolipoprotein A-V deficiency; [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. [-]
familial apolipoprotein C-II deficiency	C-II anapolipoproteinemia; familial APOC2 deficien.. [+] C-II anapolipoproteinemia; familial APOC2 deficiency; hyperlipoproteinemia, type 1b; familial apoC-II deficiency; hyperlipoproteinemia, type Ib; [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. [-]
familial atrial fibrillation	ATFB;	An atrial fibrillation that has_material_basis_in ..[+] An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. [-]
familial benign fleck retina	FRFB;	A retinal disease characterized by a striking patt..[+] A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. [-]
familial chronic myelocytic leukemia-like syndrome	familial CML-like syndrome;	A chronic myeloid leukemia characterized by chroni..[+] A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). [-]
familial chylomicronemia due to inhibition of lipoprotein lipase activity		A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. [-]
familial chylomicronemia syndrome		A familial hyperlipidemia characterized by hypertr..[+] A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. [-]
familial cold autoinflammatory syndrome	FCAS;	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. [-]
familial cold autoinflammatory syndrome 1		A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. [-]
familial cold autoinflammatory syndrome 2	NLRP12-associated hereditary periodic fever syndro.. [+] NLRP12-associated hereditary periodic fever syndrome; [-]	A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. [-]
familial cold autoinflammatory syndrome 3		A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. [-]
familial cold autoinflammatory syndrome 4		A familial cold autoinflammatory syndrome that is ..[+] A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. [-]
familial combined hyperlipidemia	familial combined hyperlipidemia (disorder); famil.. [+] familial combined hyperlipidemia (disorder); familial combined hyperlipidemia (disorder) [Ambiguous]; familial multiple lipoprotein-type hyperlipidemia (disorder); hyperbetalipoproteinemia with prebetalipoproteinemia; mixed hyperlipidemia; mixed hyperlipidemia (disorder); familial multiple lipoprotein-type hyperlipidemia; type IIb hyperlipoproteinemia; mixed hyperlipidaemia; [-]	n_a
familial encephalopathy with neuroserpin inclusion bodies	FENIB;	A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. [-]
familial episodic pain syndrome	FEPS;	A peripheral neuropathy characterized by recurrent..[+] A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. [-]
familial episodic pain syndrome 1	FEPS1;	A familial episodic pain syndrome characterized by..[+] A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. [-]
familial episodic pain syndrome 2	FEPS2;	A familial episodic pain syndrome characterized by..[+] A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. [-]
familial episodic pain syndrome 3	FEPS3;	A familial episodic pain syndrome characterized by..[+] A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. [-]
familial erythrocytosis 1	autosomal dominant benign erythrocytosis; primary .. [+] autosomal dominant benign erythrocytosis; primary familial and congenital polycythemia; ECYT1; [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. [-]
familial erythrocytosis 2	Chuvash erythromatosis; Chuvash type polycythemia;.. [+] Chuvash erythromatosis; Chuvash type polycythemia; familial erythrocytosis 2; autosomal recessive benign erythrocytosis; Chuvash polycythemia; ECYT2; [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. [-]
familial erythrocytosis 3	ECYT3;	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. [-]
familial erythrocytosis 4	ECYT4;	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. [-]
familial erythrocytosis 5	ECYT5;	A primary polycythemia characterized by autosomal ..[+] A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. [-]
familial erythrocytosis 6	beta-globin type polycythemia; ECYT6; beta-globin .. [+] beta-globin type polycythemia; ECYT6; beta-globin type erythrocytosis; [-]	A primary polycythemia characterized by high oxyge..[+] A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. [-]
familial erythrocytosis 7	alpha-globin type polycythemia; ECYT7; alpha-globi.. [+] alpha-globin type polycythemia; ECYT7; alpha-globin type erythrocytosis; [-]	A primary polycythemia characterized by high oxyge..[+] A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. [-]
familial erythrocytosis 8	bisphosphoglycerate mutase deficiency; bisphosphog.. [+] bisphosphoglycerate mutase deficiency; bisphosphoglyceromutase deficiency; BPGM deficiency; diphosphoglycerate mutase deficiency of erythrocyte; ECYT8; DPGM deficiency; hemolytic anemia due to diphosphoglycerate mutase deficiency; [-]	A primary polycythemia characterized by erythrocyt..[+] A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. [-]
familial expansile osteolysis	FEO; McCabe disease; hereditary expansile polyosto.. [+] FEO; McCabe disease; hereditary expansile polyostotic osteolytic dysplasia; [-]	A bone remodeling disease characterized by increas..[+] A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. [-]
familial febrile seizures	familial febrile convulsions; FEB;	A brain disease characterized by seizures during c..[+] A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. [-]
familial febrile seizures 1	familial febrile convulsions 1; FEB1;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. [-]
familial febrile seizures 10	familial febrile convulsions 10; FEB10;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. [-]
familial febrile seizures 11	familial febrile convulsions 11; FEB11;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. [-]
familial febrile seizures 2	familial febrile convulsions 2; FEB2;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. [-]
familial febrile seizures 4	familial febrile convulsions 4; FEB4;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. [-]
familial febrile seizures 5	familial febrile convulsions 5; FEB5;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. [-]
familial febrile seizures 6	familial febrile convulsions 6; FEB6;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. [-]
familial febrile seizures 7	familial febrile convulsions 7; FEB7;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in heterozygous mutation. [-]
familial febrile seizures 8	familial febrile convulsions 8; FEB8;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. [-]
familial febrile seizures 9	familial febrile convulsions 9; FEB9;	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. [-]
familial focal epilepsy with variable foci	DEPDC5-related epilepsy;	A focal epilepsy that is characterized by focal se..[+] A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. [-]
familial focal epilepsy with variable foci 1		A familial focal epilepsy with variable foci that ..[+] A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. [-]
familial focal epilepsy with variable foci 2		A familial focal epilepsy with variable foci that ..[+] A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. [-]
familial focal epilepsy with variable foci 3		A familial focal epilepsy with variable foci that ..[+] A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. [-]
familial focal epilepsy with variable foci 4		A familial focal epilepsy with variable foci that ..[+] A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. [-]
familial gestational hyperthyroidism		A hyperthyroidism that is characterized by promisc..[+] A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. [-]

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