| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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primary ciliary dyskinesia 29
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primary ciliary dyskinesia 29 without situs invers..
[+]
primary ciliary dyskinesia 29 without situs inversus; CILD29
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
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primary ciliary dyskinesia 12
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primary ciliary dyskinesia 12 without situs invers..
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primary ciliary dyskinesia 12 without situs inversus; CILD12
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21.
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primary ciliary dyskinesia 11
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primary ciliary dyskinesia 11 without situs invers..
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primary ciliary dyskinesia 11 without situs inversus; CILD11
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.
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primary ciliary dyskinesia 32
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primary ciliary dyskinesia 32 without situs invers..
[+]
primary ciliary dyskinesia 32 without situs inversus; CILD32
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.
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primary ciliary dyskinesia 18
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primary ciliary dyskinesia 18 with or without situ..
[+]
primary ciliary dyskinesia 18 with or without situs inversus; CILD18
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.
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primary ciliary dyskinesia 7
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primary ciliary dyskinesia 7 with or without situs..
[+]
primary ciliary dyskinesia 7 with or without situs inversus; CILD7
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21.
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primary ciliary dyskinesia 6
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CILD6
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1.
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primary ciliary dyskinesia 28
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primary ciliary dyskinesia 28 with or without situ..
[+]
primary ciliary dyskinesia 28 with or without situs inversus; CILD28
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
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primary ciliary dyskinesia 19
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primary ciliary dyskinesia 19 with or without situ..
[+]
primary ciliary dyskinesia 19 with or without situs inversus; CILD19
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24.
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primary ciliary dyskinesia 23
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primary ciliary dyskinesia 23 with or without situ..
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primary ciliary dyskinesia 23 with or without situs inversus; CILD23
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.
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primary ciliary dyskinesia 34
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primary ciliary dyskinesia 34 without situs invers..
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primary ciliary dyskinesia 34 without situs inversus; CILD34
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13.
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primary ciliary dyskinesia 27
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primary ciliary dyskinesia 27 without situs invers..
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primary ciliary dyskinesia 27 without situs inversus; CILD27
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.
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primary ciliary dyskinesia 10
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primary ciliary dyskinesia 10 with or without situ..
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primary ciliary dyskinesia 10 with or without situs inversus; CILD10
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.
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primary ciliary dyskinesia 16
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primary ciliary dyskinesia 16 with or without situ..
[+]
primary ciliary dyskinesia 16 with or without situs inversus; CILD16
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.
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primary ciliary dyskinesia 4
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primary ciliary dyskinesia 4 with or without situs..
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primary ciliary dyskinesia 4 with or without situs inversus; CILD4
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1.
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primary ciliary dyskinesia 25
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primary ciliary dyskinesia 25 with or without situ..
[+]
primary ciliary dyskinesia 25 with or without situs inversus; CILD25
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.
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primary ciliary dyskinesia 8
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primary ciliary dyskinesia 8 with or without situs..
[+]
primary ciliary dyskinesia 8 with or without situs inversus; CILD8
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A primary ciliary dyskinesia that has_material_bas.. [+]A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25.
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primary ciliary dyskinesia 5
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primary ciliary dyskinesia 5 without situs inversu..
[+]
primary ciliary dyskinesia 5 without situs inversus; CILD5
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.
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primary ciliary dyskinesia 13
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primary ciliary dyskinesia 13 with or without situ..
[+]
primary ciliary dyskinesia 13 with or without situs inversus; CILD13
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.
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primary ciliary dyskinesia 33
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primary ciliary dyskinesia 33 without situs invers..
[+]
primary ciliary dyskinesia 33 without situs inversus; CILD33
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.
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primary ciliary dyskinesia 35
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primary ciliary dyskinesia 35 with or without situ..
[+]
primary ciliary dyskinesia 35 with or without situs inversus; CILD35
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21.
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primary ciliary dyskinesia 17
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primary ciliary dyskinesia 17 with or without situ..
[+]
primary ciliary dyskinesia 17 with or without situs inversus; CILD17
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.
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primary ciliary dyskinesia 9
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primary ciliary dyskinesia 9 with or without situs..
[+]
primary ciliary dyskinesia 9 with or without situs inversus; CILD9
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.
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primary ciliary dyskinesia 15
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primary ciliary dyskinesia 15 with or without situ..
[+]
primary ciliary dyskinesia 15 with or without situs inversus; CILD15
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.
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1 articles
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4 matches
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primary ciliary dyskinesia 30
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primary ciliary dyskinesia 30 without situs invers..
[+]
primary ciliary dyskinesia 30 without situs inversus; CILD30
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.
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primary ciliary dyskinesia 20
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primary ciliary dyskinesia 20 with or without situ..
[+]
primary ciliary dyskinesia 20 with or without situs inversus; CILD20
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.
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primary ciliary dyskinesia 2
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primary ciliary dyskinesia 2 with or without situs..
[+]
primary ciliary dyskinesia 2 with or without situs inversus; CILD2
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
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primary ciliary dyskinesia 26
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primary ciliary dyskinesia 26 with or without situ..
[+]
primary ciliary dyskinesia 26 with or without situs inversus; CILD26
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.
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primary ciliary dyskinesia 24
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primary ciliary dyskinesia 24 without situs invers..
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primary ciliary dyskinesia 24 without situs inversus; CILD24
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.
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posterior polymorphous corneal dystrophy 1
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Ppcd1; Ched1; Corneal Endothelial Dystrophy 1, Aut..
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Ppcd1; Ched1; Corneal Endothelial Dystrophy 1, Autosomal Dominant; Maumenee Corneal Dystrophy
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A posterior polymorphous corneal dystrophy that ha.. [+]A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
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posterior polymorphous corneal dystrophy 2
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Ppcd2
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A posterior polymorphous corneal dystrophy that ha.. [+]A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3.
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posterior polymorphous corneal dystrophy 3
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Ppcd3
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A posterior polymorphous corneal dystrophy that ha.. [+]A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22.
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polycystic kidney disease 1
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Pkd1; Polycystic Kidney Disease, Adult, Type I; Ap..
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Polycystic Kidney Disease, Adult, Type I; Pkd1; Apkd1
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A autosomal dominant polycystic kidney disease tha.. [+]A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.
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4 articles
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polycystic kidney disease 2
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Pkd2; Polycystic Kidney Disease, Adult, Type II; A..
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Polycystic Kidney Disease, Adult, Type II; Pkd2; Apkd2
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A autosomal dominant polycystic kidney disease tha.. [+]A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.
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3 articles
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polycystic kidney disease 3
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Pkd3; Polycystic Kidney Disease, Adult, Type III; ..
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Polycystic Kidney Disease, Adult, Type III; Pkd3; Apkd3
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A autosomal dominant polycystic kidney disease tha.. [+]A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.
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platelet-type bleeding disorder 9
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BDPLT9; collagen platelet receptor deficiency; gly..
[+]BDPLT9; collagen platelet receptor deficiency; glycoprotein Ia deficiency; GP Ia deficiency
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A blood platelet disease characterized by autosoma.. [+]A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2.
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platelet-type bleeding disorder 10
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platelet glycoprotein IV deficiency; BDPLT10; CD36..
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platelet glycoprotein IV deficiency; BDPLT10; CD36 deficiency
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A blood platelet disease characterized by autosoma.. [+]A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.
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platelet-type bleeding disorder 14
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BDPLT14; thromboxane synthase deficiency
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A blood platelet disease characterized by autosoma.. [+]A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.
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platelet-type bleeding disorder 19
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severe autosomal recessive macrothrombocytopenia; ..
[+]severe autosomal recessive macrothrombocytopenia; BDPLT19
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A blood platelet disease characterized by autosoma.. [+]A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21.
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platelet-type bleeding disorder 17
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BDPLT17; hereditary thrombasthenia-thrombocytopeni..
[+]BDPLT17; hereditary thrombasthenia-thrombocytopenia
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A blood platelet disease characterized by autosoma.. [+]A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
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platelet-type bleeding disorder 18
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BDPLT18; bleeding disorder due to CalDAG-GEFI defi..
[+]BDPLT18; bleeding disorder due to CalDAG-GEFI deficiency; bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
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A blood platelet disease characterized by autosoma.. [+]A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.
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platelet-type bleeding disorder 15
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BDPLT15; autosomal dominant macrothrombocytopenia ..
[+]BDPLT15; autosomal dominant macrothrombocytopenia ACTN1-related
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A blood platelet disease characterized by autosoma.. [+]A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.
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platelet-type bleeding disorder 20
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autosomal dominant thrombocytopenia with platelet ..
[+]autosomal dominant thrombocytopenia with platelet secretion defect; BDPLT20
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A blood platelet disease characterized by autosoma.. [+]A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.
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platelet-type bleeding disorder 3
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platelet type-von Willebrand disease; pseudo-von W..
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platelet type-von Willebrand disease; pseudo-von Willebrand disease; PT-VWD; BDPLT3; von Willebrand disease platelet-type
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A blood platelet disease characterized by enhanced.. [+]A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2.
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platelet-type bleeding disorder 11
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glycoprotein VI deficiency; GP VI deficiency; BDPL..
[+]glycoprotein VI deficiency; GP VI deficiency; BDPLT11
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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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platelet COX1 deficiency; platelet prostaglandin-e..
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platelet COX1 deficiency; platelet prostaglandin-endoperoxide synthase 1 deficiency; platelet cyclooxygenase 1 deficiency; PGHS1 deficiency; BDPLT12
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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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progressive familial heart block
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PFHB; familial Lenegre disease; familial Lev disea..
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PFHB; familial Lenegre disease; familial Lev disease; familial Lev-Lenegre disease; familial PCCD; hereditary bundle branch defect; familial progressive heart block
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A heart conduction disease characterized by autoso.. [+]A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death.
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progressive familial heart block type IA
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PFHB1A
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A progressive familial heart block characterized b.. [+]A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.
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progressive familial heart block type II
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PFHB2
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A progressive familial heart block characterized b.. [+]A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32.
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progressive familial heart block type IB
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PFHB1B
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A progressive familial heart block characterized b.. [+]A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13.
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