| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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age related macular degeneration 7
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ARMD7
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An age related macular degeneration conferred by v.. [+]An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.
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age related macular degeneration 8
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ARMD8
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An age related macular degeneration that has mater.. [+]An age related macular degeneration that has material basis in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26
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age related macular degeneration 9
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ARMD9
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An age related macular degeneration conferred by v.. [+]An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.
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age related macular degeneration 10
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ARMD10
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An age related macular degeneration associated wit.. [+]An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene.
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age related macular degeneration 11
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ARMD11
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An age related macular degeneration conferred by v.. [+]An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11.
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age related macular degeneration 12
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ARMD12
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An age related macular degeneration conferred by m.. [+]An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.
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age related macular degeneration 13
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ARMD13
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An age related macular degeneration conferred by h.. [+]An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.
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age related macular degeneration 14
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ARMD14
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An age related macular degeneration associated wit.. [+]An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.
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age related macular degeneration 15
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ARMD15
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An age related macular degeneration conferred by v.. [+]An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13.
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age related macular degeneration 5
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ARMD5
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An age related macular degeneration onferred by he.. [+]An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.
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alpha thalassemia-intellectual disability syndrome type 1
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ATR syndrome, deletion type; ATR-16 syndrome; ATR ..
[+]
ATR-16 syndrome; ATR syndrome, deletion type; ATR syndrome linked to chromosome 16; alpha-thalassemia/mental retardation syndrome, type 1; alpha-thalassemia/mental retardation syndrome, deletion-type; alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; alpha thalassemia-retardation syndrome; alpha thalassemia-intellectual disability syndrome, deletion type
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An alpha thalassemia that has material basis in a .. [+]An alpha thalassemia that has material basis in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
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alpha thalassemia-X-linked intellectual disability syndrome
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ATR, nondeletion type; ATR-X syndrome; alpha-thala..
[+]
ATR-X syndrome; ATR, nondeletion type; alpha-thalassemia/mental retardation syndrome nondeletion type
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An alpha thalassemia that has material basis in mu.. [+]An alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21.
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autosomal dominant Alport syndrome
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An Alport syndrome that has_material_basis_in hete.. [+]An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene.
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autosomal recessive Alport syndrome
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An Alport syndrome that has_material -basis_in hom.. [+]An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q
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Alzheimer's disease 2
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Alzheimer disease-2; Alzheimer disease associated ..
[+]
Alzheimer disease-2; Alzheimer disease associated with APOE4; Alzheimer disease 2, late onset; AD2
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.
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Alzheimer's disease 16
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Alzheimer's disease 16, late onset; AD16
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.
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Alzheimer's disease 5
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Alzheimer disease, familial 5; Alzheimer disease 5..
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Alzheimer disease, familial 5; Alzheimer disease 5; AD5
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12.
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Alzheimer's disease 6
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Alzheimer disease 6, late onset; Alzheimer disease..
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Alzheimer disease 6, late onset; Alzheimer disease 6; AD6
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.
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Alzheimer's disease 7
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Alzheimer disease, familial 7; Alzheimer disease 7..
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Alzheimer disease, familial 7; Alzheimer disease 7; AD7
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.
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Alzheimer's disease 4
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Alzheimer disease 4; Alzheimer disease, familial4; ..
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Alzheimer disease, familial4; Alzheimer disease 4; AD4
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An Alzheimer's disease that has_material_basis_in .. [+]An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.
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Alzheimer's disease 8
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Alzheimer disease, familial 8; Alzheimer disease 8..
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Alzheimer disease, familial 8; Alzheimer disease 8; AD8
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.
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Alzheimer's disease 3
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Alzheimer disease familial 3; Alzheimer disease 3,..
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Alzheimer disease familial 3; Alzheimer disease 3, early onset; Alzheimer disease 3; AD3
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An Alzheimer's disease that has_material_basis_in .. [+]An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.
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Alzheimer's disease 10
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Alzheimer disease familial 10; Alzheimer disease 1..
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Alzheimer disease familial 10; Alzheimer disease 10; AD10
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.
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Alzheimer's disease 11
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Alzheimer disease 11; AD11
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.
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Alzheimer's disease 12
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Alzheimer disease familial 12; Alzheimer disease 1..
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Alzheimer disease familial 12; Alzheimer disease 12; AD12
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.
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Alzheimer's disease 13
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Alzheimer's disease 13, late onset; Alzheimer dise..
[+]
Alzheimer's disease 13, late onset; Alzheimer disease 13; AD13
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.
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Alzheimer's disease 14
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Alzheimer disease 14; AD14
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.
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Alzheimer's disease 15
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Alzheimer disease 15; AD15
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24.
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Alzheimer's disease 17
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Alzheimer disease 17, late onset; Alzheimer diseas..
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Alzheimer disease 17, late onset; Alzheimer disease 17; AD17
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An Alzheimer's disease that is characterized by an.. [+]An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.
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Alzheimer's disease 18
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Alzheimer disease 18; AD18
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An Alzheimer's disease that has_material_basis_in .. [+]An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21.
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Alzheimer's disease 19
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Alzheimer disease 19 late onset; Alzheimer disease..
[+]
Alzheimer disease 19 late onset; Alzheimer disease 19; AD19
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An Alzheimer's disease that is characterized by as.. [+]An Alzheimer's disease that is characterized by associated variants of the gene PLD3.
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amelogenesis imperfecta type 1B
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autosomal dominant hypoplastic local amelogenesis ..
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autosomal dominant hypoplastic local amelogenesis imperfecta; amelogenesis imperfecta type IB; AIH2; AI1B; hereditary localized enamel hypoplasia
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An amelogenesis imperfecta that has material basis.. [+]An amelogenesis imperfecta that has material basis in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.
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amelogenesis imperfecta type 4
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amelogenesis imperfecta hypomaturation-hypoplastic..
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amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism; AIHHT; AI4
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An amelogenesis imperfecta which can have material.. [+]An amelogenesis imperfecta which can have material basis in mutation in the DLX3 gene.
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amelogenesis imperfecta type 1A
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amelogenesis imperfecta type IA; amelogenesis impe..
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amelogenesis imperfecta type IA; amelogenesis imperfecta hypoplastic type IA; AI1A
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An amelogenesis imperfecta that has material basis.. [+]An amelogenesis imperfecta that has material basis in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.
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amelogenesis imperfecta type 3A
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autosomal dominant amelogenesis imperfecta hypocal..
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autosomal dominant amelogenesis imperfecta hypocalcification type; amelogenesis imperfecta type III; amelogenesis imperfecta hypomineralization type; AI3; ADHCAI
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An amelogenesis imperfecta type 3 that has_materia.. [+]An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.
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amelogenesis imperfecta type 1C
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autosomal recessive amelogenesis imperfecta local ..
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autosomal recessive amelogenesis imperfecta local hypoplastic type; autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion; amelogenesis imperfecta type IC; AI1C
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An amelogenesis imperfecta that has material basis.. [+]An amelogenesis imperfecta that has material basis in homozygous mutation in the enamelin gene (ENAM).
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amelogenesis imperfecta type 2A1
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amelogenesis imperfecta type IIA1; amelogenesis im..
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amelogenesis imperfecta type IIA1; amelogenesis imperfecta pigmented hypomaturation type 1; AI2A1
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An amelogenesis imperfecta that has_material_basis.. [+]An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.
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amelogenesis imperfecta type 1E
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amelogenesis imperfecta type IE; amelogenesis impe..
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amelogenesis imperfecta type IE; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; AIH1; X-linked amelogenesis imperfecta 1; X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1; X-linked enamel hypoplasia
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An amelogenesis imperfecta that has material basis.. [+]An amelogenesis imperfecta that has material basis in mutation in the gene encoding amelogenin (AMELX).
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amelogenesis imperfecta hypomaturation type 2A2
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amelogenesis imperfecta type IIA2; amelogenesis im..
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amelogenesis imperfecta type IIA2; amelogenesis imperfecta pigmented hypomaturation type 2; amelogenesis imperfecta hypomaturation type IIA2; AI2A2
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An amelogenesis imperfecta that has material basis.. [+]An amelogenesis imperfecta that has material basis in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).
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amelogenesis imperfecta hypomaturation type 2A3
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amelogenesis imperfecta type IIA3; amelogenesis im..
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amelogenesis imperfecta type IIA3; amelogenesis imperfecta hypomaturation type IIA3; AI2A3
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An amelogenesis imperfecta caused by homozygous mu.. [+]An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene.
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amelogenesis imperfecta hypomaturation type 2A4
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amelogenesis imperfecta type IIA4; amelogenesis im..
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amelogenesis imperfecta type IIA4; amelogenesis imperfecta hypomaturation type IIA4; AI2A4
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An amelogenesis imperfecta caused by homozygous m.. [+]An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.
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amelogenesis imperfecta hypomaturation type 2A5
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amelogenesis imperfecta type IIA5; amelogenesis im..
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amelogenesis imperfecta type IIA5; amelogenesis imperfecta hypomaturation type IIA5; AI2A5
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An amelogenesis imperfecta that has_material_basis.. [+]An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32.
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amelogenesis imperfecta type 1H
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amelogenesis imperfecta type IH; AI1H
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An amelogenesis imperfecta that has material basis.. [+]An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.
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amelogenesis imperfecta type 1F
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amelogenesis imperfecta type IF; amelogenesis impe..
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amelogenesis imperfecta type IF; amelogenesis imperfecta hypoplastic type IF; AI1F
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An amelogenesis imperfecta that has material basis.. [+]An amelogenesis imperfecta that has material basis in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13.
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amelogenesis imperfecta type 1G
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amelogenesis imperfecta type IG; amelogenesis impe..
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amelogenesis imperfecta type IG; amelogenesis imperfecta hypoplastic with nephrocalcinosis; amelogenesis imperfecta and gingival fibromatosis syndrome; AIGFS; AI1G; enamel-renal syndrome; enamel-renal-gingival syndrome; ERS
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An amelogenesis imperfecta that has material basis.. [+]An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.
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arrhythmogenic right ventricular dysplasia 1
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ARVC1; ARVD1; arrhythmogenic right ventricular car..
[+]
ARVD1; ARVC1; arrhythmogenic right ventricular cardiomyopathy 1; familial arrhythmogenic right ventricular dysplasia 1; Uhl anomaly
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An arrhythmogenic right ventricular dysplasia that.. [+]An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
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arrhythmogenic right ventricular dysplasia 2
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ARVC2; ARVD2; arrhythmogenic right ventricular car..
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ARVD2; ARVC2; arrhythmogenic right ventricular cardiomyopathy 2; familial arrhythmogenic right ventricular dysplasia 2
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An arrhythmogenic right ventricular dysplasia that.. [+]An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43.
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arrhythmogenic right ventricular dysplasia 3
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ARVC3; ARVD3; arrhythmogenic right ventricular car..
[+]
ARVD3; ARVC3; arrhythmogenic right ventricular cardiomyopathy 3; familial arrhythmogenic right ventricular dysplasia 3
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An arrhythmogenic right ventricular dysplasia asso.. [+]An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.
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arrhythmogenic right ventricular dysplasia 4
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ARVC4; ARVD4; arrhythmogenic right ventricular car..
[+]
ARVD4; ARVC4; arrhythmogenic right ventricular cardiomyopathy 4; fanilial arrhythmogenic right ventricular dysplasia 4
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An arrhythmogenic right ventricular dysplasia asso.. [+]An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.
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arrhythmogenic right ventricular dysplasia 5
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ARVC5; ARVD5; arrhythmogenic right ventricular car..
[+]
ARVD5; ARVC5; arrhythmogenic right ventricular cardiomyopathy 5; familial arrhythmogenic right ventricular dysplasia 5
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An arrhythmogenic right ventricular dysplasia that.. [+]An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.
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