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Disease	Synonyms	Description	Articles	Phenotypes
familial erythrocytosis 6	beta-globin type erythrocytosis; beta-globin type .. [+] beta-globin type erythrocytosis; beta-globin type polycythemia; ECYT6 [-]	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 adult myoclonic epilepsy	benign adult familial myoclonic epilepsy; benign a.. [+] benign adult familial myoclonic epilepsy; benign adult familial myoclonus epilepsy; BAFME; familial cortical myoclonic tremor and epilepsy; FAME; FCMTE [-]	An adolescence-adult electroclinical syndrome char..[+] An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. [-]
familial adult myoclonic epilepsy 1	BAFME1; benign adult familial myoclonic epilepsy 1.. [+] BAFME1; benign adult familial myoclonic epilepsy 1; FAME1; FCMTE1; familial cortical myoclonic tremor and epilepsy 1 [-]	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 SAMD12 gene on chromosome 8q24.11-q24.12. [-]
familial adult myoclonic epilepsy 2	benign adult familial myoclonic epilepsy 2; BAFME2.. [+] benign adult familial myoclonic epilepsy 2; BAFME2; ADCME; autosomal dominant cortical myoclonus and epilepsy; 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 7	benign adult familial myoclonic epilepsy 7; BAFME7.. [+] benign adult familial myoclonic epilepsy 7; BAFME7; 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 adult myoclonic epilepsy 6	BAFME6; benign adult familial myoclonic epilepsy 6.. [+] BAFME6; benign adult familial myoclonic epilepsy 6; FAME6; FCMTE6; 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. [-]
Van den Ende-Gupta syndrome	blepharophimosis, arachnodactyly, and congenital c.. [+] blepharophimosis, arachnodactyly, and congenital contractures; Marden-Walker-like syndrome; Marden-Walker-like syndrome without psychmotor retardation; VDEGS [-]	A syndrome characterized by severe contractual ara..[+] A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. [-]
chromosome 2q37 deletion syndrome	Brachydactyly-intellectual disability syndrome; BD.. [+] Brachydactyly-intellectual disability syndrome; BDMR; 2q37 microdeletion syndrome; Albright hereditary osteodystrophy type 3; Albright hereditary osteodystrophy-like syndrome; Del(2)(q37); deletion 2q37; monosomy 2q37qter; Albright's hereditary osteodystrophy-like syndrome [-]	brachydactyly type E, short stature, mild to moder..[+] A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. [-]
Eiken syndrome	bone modeling defect of hands and feet; Eiken skel.. [+] bone modeling defect of hands and feet; Eiken skeletal dysplasia [-]	A bone development disease characterized by severe..[+] A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
X-linked thrombocytopenia with beta-thalassemia	beta-thalassemia-X-linked thrombocytopenia syndrom.. [+] beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; XLTT [-]	A hematopoietic system disease characterized by va..[+] A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. [-]
Frank-Ter Haar syndrome	Borrone dermatocardioskeletal syndrome; autosomal .. [+] Borrone dermatocardioskeletal syndrome; autosomal recessive Melnick-Needles syndrome; FTHS; megalocornea, multiple skeletal anomalies, and developmental delay; Ter Haar syndrome [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. [-]
syndromic microphthalmia 6	Bakrania-Ragge syndrome; anophthalmia clinical wit.. [+] Bakrania-Ragge syndrome; anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia; MCOPS6; microphthalmia with brain and digit anomalies; syndromic microphthalmia type 6; microphthalmia and pituitary anomalies [-]	A syndromic microphthalmia characterized by clinic..[+] A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. [-]
Sabinas brittle hair syndrome	brittle hair-mental deficiency syndrome; trichothi.. [+] brittle hair-mental deficiency syndrome; trichothiodystrophy type B [-]	A nonphotosensitive trichothiodystrophy characteri..[+] A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. [-]
immunodeficiency 60	BRIDA; BACH2-related immunodeficiency and autoimmu.. [+] BRIDA; BACH2-related immunodeficiency and autoimmunity; IMD60 [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. [-]
immunodeficiency 43	B2M deficiency; beta-2-microglobulin deficiency; h.. [+] beta-2-microglobulin deficiency; B2M deficiency; hypercatabolic hypoproteinemia; IMD43 [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. [-]
mismatch repair cancer syndrome	BTP1 syndrome; BTPS1; brain tumor-polyposis syndro.. [+] BTPS1; BTP1 syndrome; brain tumor-polyposis syndrome 1; childhood cancer syndrome; CMMR-D syndrome; CMMRDS; constitutional mismatch repair deficiency syndrome; MMR deficiency; Turcot syndrome [-]	A syndrome characterized by predisposition for dev..[+] A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. [-]

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