| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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hereditary lymphedema I
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Milroy disease; congenital primary lymphedema; LMP..
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Milroy disease; congenital primary lymphedema; LMPH1; PCL; Nonne-Milroy lymphedema; hereditary lymphedema type I
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A hereditary lymphedema characterized by autosomal.. [+]A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.
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hereditary lymphedema II
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Meige disease; Meige lymphedema; late-onset lymphe..
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Meige lymphedema; Meige disease; late-onset lymphedema; lymphedema preacox; LMPH2
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A hereditary lymphedema characterized by onset aro.. [+]A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance.
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progressive familial intrahepatic cholestasis 3
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MDR3 deficiency; PFIC3; progressive familial intra..
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MDR3 deficiency; PFIC3; progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
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A progressive familial intrahepatic cholestasis ch.. [+]A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.
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Loeys-Dietz syndrome 2
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Marfan syndrome type II; AAT3; familial throacic a..
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Marfan syndrome type II; AAT3; familial throacic aortic aneurysm 3; LDS2
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A Loeys-Dietz syndrome that has_material_basis_in .. [+]A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.
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X-linked Emery-Dreifuss muscular dystrophy 1
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muscular dystrophy, tardive, Dreifuss-Emery type, ..
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muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; EDMD1; EMD1; Emery-Dreifuss muscular dystrophy 1, X-linked; humeroperoneal neuromuscular disease; scapuloperoneal syndrome, X-linked
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An Emery-Dreifuss muscular dystrophy that has_mate.. [+]An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.
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autosomal dominant Emery-Dreifuss muscular dystrophy 2
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muscular dystrophy with early contractures and car..
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muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; autosomal dominant limb-girdle muscular dystrophy type 1B; EDMD2; EMD2; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy, autosomal dominant; Hauptmann-Thannhauser muscular dystrophy; scapuloilioperoneal atrophy with cardiopathy
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An Emery-Dreifuss muscular dystrophy that has_mate.. [+]An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
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X-linked Emery-Dreifuss muscular dystrophy 6
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myopathy, X-linked, with postural muscle atrophy; ..
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myopathy, X-linked, with postural muscle atrophy; EDMD6; Emery-Dreifuss muscular dystrophy 6, X-linked; XMPMA
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An Emery-Dreifuss muscular dystrophy that has_mate.. [+]An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.
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congenital disorder of glycosylation type IIa
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mental retardation, growth retardation, prominent ..
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mental retardation, growth retardation, prominent columella, and open mouth; Alkuraya syndrome; carbohydrate-deficient glycoprotein syndrome, type II; CDG IIa; CDG2A; CDGIIa; CDGS2; congenital disorder of glycosylation, type IIa
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A congenital disorder of glycosylation type II tha.. [+]A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.
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primary autosomal recessive microcephaly 15
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MCPH15; NEDMISBA; neurodevelopmental disorder with..
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MCPH15; NEDMISBA; neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
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A primary autosomal recessive microcephaly charact.. [+]A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.
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primary autosomal recessive microcephaly 7
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MCPH7
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.
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primary autosomal recessive microcephaly 14
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MCPH14
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
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primary autosomal recessive microcephaly 5
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MCPH5
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
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primary autosomal recessive microcephaly 19
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MCPH19
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.
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primary autosomal recessive microcephaly 8
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MCPH8
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.
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primary autosomal recessive microcephaly 13
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MCPH13
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.
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primary autosomal recessive microcephaly 12
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MCPH12
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.
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primary autosomal recessive microcephaly 1
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MCPH1
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
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primary autosomal recessive microcephaly 3
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MCPH3
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.
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primary autosomal recessive microcephaly 11
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MCPH11
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.
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primary autosomal recessive microcephaly 17
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MCPH17
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.
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primary autosomal recessive microcephaly 16
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MCPH16
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.
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primary autosomal recessive microcephaly 6
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MCPH6
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.
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primary autosomal recessive microcephaly 4
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MCPH4
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.
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primary autosomal recessive microcephaly 9
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MCPH9
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.
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primary autosomal recessive microcephaly 2 with or without cortical malformations
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MCPH2
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.
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primary autosomal recessive microcephaly 10
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MCPH10
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A primary autosomal recessive microcephaly that ha.. [+]A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.
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primary autosomal dominant microcephaly 18
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MCPH18
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A primary microcephaly that has_material_basis_in .. [+]A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21.
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primary autosomal recessive microcephaly
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MCPH
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A primary microcephaly characterized by microcepha.. [+]A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.
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brachycephaly, trichomegaly, and developmental delay
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MCINS; Macinnes syndrome; BTDD
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A syndrome characterized by brachycephaly, trichom.. [+]A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14.
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syndromic X-linked intellectual disability Pilorge type
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MRXSP
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A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22.
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hyperphosphatasia with impaired intellectual development syndrome
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Mabry disease; Mabry syndrome; HPMRS; hyperphospha..
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Mabry syndrome; Mabry disease; HPMRS; hyperphosphatasia with mental retardation syndrome
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An autosomal recessive intellectual developmental .. [+]An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed.
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retinal macular dystrophy
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MCDR
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A macular degeneration characterized by non-progre.. [+]A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees.
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North Carolina macular dystrophy
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MCDR1; central areolar pigment epithelial dystroph..
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MCDR1; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; NCMD; progressive foveal dystrophy; retinal macular dystrophy 1
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A retinal macular dystrophy characterized by limit.. [+]A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.
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retinal macular dystrophy 3
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MCDR3
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A retinal macular dystrophy that has_material_basi.. [+]A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1.
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retinal macular dystrophy 4
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MCDR4
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A retinal macular dystrophy characterized by late-.. [+]A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21.
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SMARCB1-deficient renal medullary carcinoma
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medullary renal cell carcinoma; medullary carcinom..
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medullary renal cell carcinoma; medullary carcinoma of the kidney; kidney medullary carcinoma; RMC; renal medullary carcinoma
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A renal cell carcinoma that develops in the renal .. [+]A renal cell carcinoma that develops in the renal medulla.
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retinal macular dystrophy 2
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MCDR2
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A retinal macular dystrophy characterized by slowl.. [+]A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32.
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syndromic X-linked intellectual developmental disorder bain type
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MRXSB; Mental Retardation, X-linked, Syndrome, Bai..
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MRXSB; Mental Retardation, X-linked, Syndrome, Bain Type; HNRNPH2-related neurodevelopmental disorder; HNRNPH2-RNDD
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A syndromic X-linked syndromic intellectual disabi.. [+]A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.
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neurodevelopmental disorder with spastic paraplegia and microcephaly
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MRT49; autosomal recessive mental retardation 49; ..
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MRT49; autosomal recessive mental retardation 49; glutamate pyruvate transaminase 2 deficiency; GPT2 deficiency; NEDSPM
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An amino acid metabolic disorder characterized del.. [+]An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common.
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Jansen's metaphyseal chondrodysplasia
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Murk Jansen Type Metaphyseal Chondrodysplasia; Jan..
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Murk Jansen Type Metaphyseal Chondrodysplasia; Jansen Disease; Jansen Metaphyseal Dysostosis; Jansen metaphyseal chondrodysplasia
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A metaphyseal dysplasia that has_material_basis_in.. [+]A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
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contractures, pterygia, and spondylocarpotarsal fusion syndrome
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multiple pterygium syndrome
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A syndrome that is characterized by permanently be.. [+]A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.
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Alpers-Huttenlocher syndrome
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mitochondrial DNA depletion syndrome 4a; Alpers di..
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mitochondrial DNA depletion syndrome 4a; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers-Huttenlocher syndrome; Alpers' disease or gray-matter degeneration; Diffuse Cerebral Sclerosis of Schilder; progressive sclerosing poliodystrophy; Alper's syndrome
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A mitochondrial DNA depletion syndrome that is cha.. [+]A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.
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Sengers syndrome
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mitochondrial DNA depletion syndrome 10 (cardiomyo..
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mitochondrial DNA depletion syndrome 10 (cardiomyopathic type); mitochondrial DNA depletion syndrome 10
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A mitochondrial DNA depletion syndrome that is cha.. [+]A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.
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superior semicircular canal dehiscence
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minor’s syndrome; canal dehiscence syndrome; sup..
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minor’s syndrome; canal dehiscence syndrome; superior canal dehiscence; superior canal syndrome; superior semicircular canal dehiscence syndrome; third mobile window syndrome
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An inner ear disease characterized by dehiscence i.. [+]An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus.
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primary mediastinal B-cell lymphoma
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Mediastinal diffuse large-cell lymphoma with scler..
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Mediastinal diffuse large-cell lymphoma with sclerosis; Large cell lymphoma of the mediastinum; Primary mediastinal clear cell lymphoma of B-cell type
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A large B-cell lymphoma that is is characterized b.. [+]A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis.
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non-syndromic X-linked intellectual disability 106
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MRX106; X-linked mental retardation 106
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A non-syndromic X-linked intellectual disability t.. [+]A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1.
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Phelan-McDermid syndrome
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monosomy 22q13 syndrome; 22q13.3 deletion syndrome..
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monosomy 22q13 syndrome; 22q13.3 deletion syndrome
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A chromosomal deletion syndrome that has_material_.. [+]A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
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familial adenomatous polyposis 2
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MUTYH-associated polyposis; MUTYH-related attenuat..
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MUTYH-associated polyposis; MUTYH-related attenuated FAP; MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated familial adenomatous polyposis
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A familial adenomatous polyposis that has_material.. [+]A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.
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Larsen-like syndrome B3GAT3 type
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multiple joint dislocations-short stature-craniofa..
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multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome; Larsen-like syndrome, B3GAT3 type
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A syndrome that is characterized by laxity, disloc.. [+]A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.
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congenital myopathy 1B
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multiminicore disease
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A congenital myopathy that is characterized by mul.. [+]A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.
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