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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
platelet-type bleeding disorder 11
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BDPLT11; glycoprotein VI deficiency; GP VI deficie..
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BDPLT11; glycoprotein VI deficiency; GP VI deficiency
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A blood platelet disease characterized by autosoma.. [+]
A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13.
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platelet-type bleeding disorder 12
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BDPLT12; PGHS1 deficiency; platelet cyclooxygenase..
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BDPLT12; PGHS1 deficiency; platelet cyclooxygenase 1 deficiency; platelet prostaglandin-endoperoxide synthase 1 deficiency; platelet COX1 deficiency
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A blood platelet disease characterized by autosoma.. [+]
A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.
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congenital generalized lipodystrophy type 1
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Brunzell syndrome AGPAT2-related; BSCL1; Berardine..
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BSCL1; Brunzell syndrome AGPAT2-related; Berardinelli-Seip Congenital Lipodystrophy, Type 1; CGL1
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A congenital generalized lipodystrophy that has_ma.. [+]
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
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congenital generalized lipodystrophy type 2
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Berardinelli-Seip syndrome; Brunzell syndrome BSCL..
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Berardinelli-Seip syndrome; Brunzell syndrome BSCL2-related; Berardinelli-Seip congenital lipodystrophy type 2; congenital lipoatrophic diabetes; total lipodystrophy and acromegaloid gigantism; CGL2
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A congenital generalized lipodystrophy that has_ma.. [+]
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
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congenital generalized lipodystrophy type 3
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Berardinelli-Seip congenital lipodystrophy type 3; ..
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Berardinelli-Seip congenital lipodystrophy type 3; BSCL3; CGL3
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A congenital generalized lipodystrophy that has_ma.. [+]
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
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congenital generalized lipodystrophy type 4
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BSCL4; Brunzell syndrome AGPAT2-related; Berardine..
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Brunzell syndrome AGPAT2-related; BSCL4; Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; CGL4; GCL4; generalized congenital lipodystrophy type 4; congenital generalised lipodystrophy type 4; generalised congenital lipodystrophy type 4; generalised congenital lipodystrophy with myopathy; generalized congenital lipodystrophy with myopathy
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A congenital generalized lipodystrophy that has_ma.. [+]
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
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subcortical band heterotopia
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band heterotopia; double cortex syndrome; HeCo; he..
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band heterotopia; double cortex syndrome; HeCo; heterotopic cortex; subcortical laminar heterotopia
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A congenital nervous system abnormality characteri.. [+]
A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.
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hypertension and brachydactyly syndrome
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brachydactyly with hypertension; Bilginturan syndr..
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brachydactyly with hypertension; Bilginturan syndrome; Bilginturan brachydactyly; type E brachydactyly with short stature and hypertension; HTNB
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A syndrome characterized by brachydactyly type E, .. [+]
A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2.
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vestibular schwannomatosis
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BANF; bilateral acoustic neurofibromatosis; bilate..
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bilateral acoustic neurofibromatosis; BANF; bilateral acoustic schwannomas; bilateral acoustic neurinoma; ACN; central neurofibromatosis; familial acoustic neuromas; NF2; neurofibromatosis type II; acoustic neurofibromatosis; neurofibromatosis 2; NF2-related schwannomatosis; schwannomatosis 3; SWN3; SWNV
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A schwannomatosis characterized by bilateral vesti.. [+]
A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.
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hyperferritinemia-cataract syndrome
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Bonneau-Beaumont syndrome; cataract-hyperferritine..
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Bonneau-Beaumont syndrome; cataract-hyperferritinemia syndrome; hereditary hyperferritinemia with congenital cataracts; hereditary hyperferritinemia-cataract syndrome; HHCS; hyperferritinemia with or without cataract; HRFTC
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A syndrome characterized by elevated circulating l.. [+]
A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.
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mucopolysaccharidosis type IVB
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beta-D-galactosidase deficiency; Morquio disease t..
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beta-D-galactosidase deficiency; Morquio disease type B; Morquio syndrome B; MPS IVB; MPS4B; mucopolysaccharidosis type IVB (Morquio)
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A mucopolysaccharidosis IV characterized by skelet.. [+]
A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.
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Kaufman oculocerebrofacial syndrome
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blepharophimosis ptosis intellectual disability sy..
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blepharophimosis ptosis intellectual disability syndrome; oculocerebrofacial syndrome, Kaufman type; KOS
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A syndromic intellectual disability characterized .. [+]
A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11.
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palmoplantar keratoderma-esophageal carcinoma syndrome
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Bennion-Patterson syndrome; Howell-Evans syndrome; ..
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Bennion-Patterson syndrome; Howell-Evans syndrome; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris-esophageal carcinoma syndrome; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; palmoplantar keratoderma with esophageal cancer; TOC; tylosis with esophageal cancer; tylosis-oesophageal carcinoma syndrome
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A syndrome characterized by palmoplantar keratoder.. [+]
A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1.
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spondyloepiphyseal dysplasia Maroteaux type
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Brachyolmia Type 2; Pseudo-Morquio syndrome type 2..
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Brachyolmia Type 2; Pseudo-Morquio syndrome type 2; SED, Maroteaux type; spondyloepiphyseal dysplasia of Maroteaux
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An osteochondrodysplasia characterized by dysplast.. [+]
An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
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congenital contractural arachnodactyly
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Beals-Hecht syndrome; Beals syndrome; arachnodacty..
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Beals syndrome; Beals-Hecht syndrome; arachnodactyly, contractural Beals type; CCA; contractures, multiple with arachnodactyly; distal arthrogryposis type 9; ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
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A distal arthrogryposis characterized by contractu.. [+]
A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.
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1 articles
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familial erythrocytosis 8
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BPGM deficiency; bisphosphoglyceromutase deficienc..
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BPGM deficiency; bisphosphoglyceromutase deficiency; bisphosphoglycerate mutase deficiency; diphosphoglycerate mutase deficiency of erythrocyte; ECYT8; DPGM deficiency; hemolytic anemia due to diphosphoglycerate mutase deficiency
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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.
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familial erythrocytosis 6
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beta-globin type erythrocytosis; beta-globin type ..
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beta-globin type erythrocytosis; beta-globin type polycythemia; ECYT6
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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.
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familial adult myoclonic epilepsy
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benign adult familial myoclonic epilepsy; benign a..
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benign adult familial myoclonic epilepsy; benign adult familial myoclonus epilepsy; BAFME; familial cortical myoclonic tremor and epilepsy; FAME; FCMTE
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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.
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familial adult myoclonic epilepsy 1
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BAFME1; benign adult familial myoclonic epilepsy 1..
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BAFME1; benign adult familial myoclonic epilepsy 1; FAME1; FCMTE1; familial cortical myoclonic tremor and epilepsy 1
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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.
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familial adult myoclonic epilepsy 2
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benign adult familial myoclonic epilepsy 2; BAFME2..
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benign adult familial myoclonic epilepsy 2; BAFME2; ADCME; autosomal dominant cortical myoclonus and epilepsy; FCMTE2; FAME2; familial cortical myoclonic tremor and epilepsy 2
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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.
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familial adult myoclonic epilepsy 7
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benign adult familial myoclonic epilepsy 7; BAFME7..
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benign adult familial myoclonic epilepsy 7; BAFME7; FAME7; familial cortical myoclonic tremor and epilepsy 7; FCMTE7
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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.
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familial adult myoclonic epilepsy 6
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BAFME6; benign adult familial myoclonic epilepsy 6..
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BAFME6; benign adult familial myoclonic epilepsy 6; FAME6; FCMTE6; familial cortical myoclonic tremor and epilepsy 6
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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.
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Van den Ende-Gupta syndrome
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blepharophimosis, arachnodactyly, and congenital c..
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blepharophimosis, arachnodactyly, and congenital contractures; Marden-Walker-like syndrome; Marden-Walker-like syndrome without psychmotor retardation; VDEGS
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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.
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chromosome 2q37 deletion syndrome
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Brachydactyly-intellectual disability syndrome; BD..
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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
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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.
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Eiken syndrome
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bone modeling defect of hands and feet; Eiken skel..
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bone modeling defect of hands and feet; Eiken skeletal dysplasia
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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.
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X-linked thrombocytopenia with beta-thalassemia
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beta-thalassemia-X-linked thrombocytopenia syndrom..
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beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; XLTT
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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.
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Frank-Ter Haar syndrome
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Borrone dermatocardioskeletal syndrome; autosomal ..
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Borrone dermatocardioskeletal syndrome; autosomal recessive Melnick-Needles syndrome; FTHS; megalocornea, multiple skeletal anomalies, and developmental delay; Ter Haar syndrome
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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.
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syndromic microphthalmia 6
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Bakrania-Ragge syndrome; anophthalmia clinical wit..
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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
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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.
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Sabinas brittle hair syndrome
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brittle hair-mental deficiency syndrome; trichothi..
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brittle hair-mental deficiency syndrome; trichothiodystrophy type B
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A nonphotosensitive trichothiodystrophy characteri.. [+]
A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility.
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immunodeficiency 60
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BRIDA; BACH2-related immunodeficiency and autoimmu..
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BRIDA; BACH2-related immunodeficiency and autoimmunity; IMD60
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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.
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immunodeficiency 43
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B2M deficiency; beta-2-microglobulin deficiency; h..
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beta-2-microglobulin deficiency; B2M deficiency; hypercatabolic hypoproteinemia; IMD43
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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.
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mismatch repair cancer syndrome
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BTP1 syndrome; BTPS1; brain tumor-polyposis syndro..
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BTPS1; BTP1 syndrome; brain tumor-polyposis syndrome 1; childhood cancer syndrome; CMMR-D syndrome; CMMRDS; constitutional mismatch repair deficiency syndrome; MMR deficiency; Turcot syndrome
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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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