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Disease	Synonyms	Description
dilated cardiomyopathy 1T	CMD1T	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. [-]
dilated cardiomyopathy 1EE	CMD1EE	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. [-]
dilated cardiomyopathy 1S	CMD1S	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. [-]
dilated cardiomyopathy 1U	CMD1U	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. [-]
dilated cardiomyopathy 1R	CMD1R	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. [-]
dilated cardiomyopathy 1Y	CMD1Y	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. [-]
dilated cardiomyopathy 1BB	CMD1BB	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. [-]
dilated cardiomyopathy 1FF	CMD1FF	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. [-]
dilated cardiomyopathy 2A	CMD2A	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. [-]
X-linked dilated cardiomyopathy	CMD3B; DMD-related dilated cardiomyopathy	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting. [-]
autosomal recessive nonsyndromic deafness 8	childhood-onset neurosensory autosomal recessive d.. [+] childhood-onset neurosensory autosomal recessive deafness 8; autosomal recessive deafness 10; autosomal recessive deafness 8; DFNB10; DFNB8; neurosensory nonsyndromic recessive deafness 8; NRSD8 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. [-]
autosomal dominant nonsyndromic deafness 51	chromosome 9q21.11 duplication syndrome; autosomal.. [+] chromosome 9q21.11 duplication syndrome; autosomal dominant deafness 51; DFNA51 [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. [-]
primary ciliary dyskinesia 1	CILD1; primary ciliary dyskinesia 1 with or withou.. [+] CILD1; primary ciliary dyskinesia 1 with or without situs inversus [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. [-]
Stromme syndrome	CILD31; apple peel syndrome with microcephaly and .. [+] CILD31; apple peel syndrome with microcephaly and ocular anomalies; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; primary ciliary dyskinesia 31 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. [-]
primary ciliary dyskinesia 21	CILD21; primary ciliary dyskinesia 21 without situ.. [+] CILD21; primary ciliary dyskinesia 21 without situs inversus [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. [-]
primary ciliary dyskinesia 22	CILD22; primary ciliary dyskinesia 22 with or with.. [+] CILD22; primary ciliary dyskinesia 22 with or without situs inversus [-]	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 respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. [-]
primary ciliary dyskinesia 14	CILD14; primary ciliary dyskinesia 14 with or with.. [+] CILD14; primary ciliary dyskinesia 14 with or without situs inversus [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. [-]
primary ciliary dyskinesia 3	CILD3; primary ciliary dyskinesia 3 with or withou.. [+] CILD3; primary ciliary dyskinesia 3 with or without situs inversus [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. [-]
primary ciliary dyskinesia 29	CILD29; primary ciliary dyskinesia 29 without situ.. [+] CILD29; primary ciliary dyskinesia 29 without situs inversus [-]	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. [-]
primary ciliary dyskinesia 12	CILD12; primary ciliary dyskinesia 12 without situ.. [+] CILD12; primary ciliary dyskinesia 12 without situs inversus [-]	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. [-]
primary ciliary dyskinesia 11	CILD11; primary ciliary dyskinesia 11 without situ.. [+] CILD11; primary ciliary dyskinesia 11 without situs inversus [-]	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. [-]
primary ciliary dyskinesia 32	CILD32; primary ciliary dyskinesia 32 without situ.. [+] CILD32; primary ciliary dyskinesia 32 without situs inversus [-]	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. [-]
primary ciliary dyskinesia 18	CILD18; primary ciliary dyskinesia 18 with or with.. [+] CILD18; primary ciliary dyskinesia 18 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 7	CILD7; primary ciliary dyskinesia 7 with or withou.. [+] CILD7; primary ciliary dyskinesia 7 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 6	CILD6	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. [-]
primary ciliary dyskinesia 28	CILD28; primary ciliary dyskinesia 28 with or with.. [+] CILD28; primary ciliary dyskinesia 28 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 19	CILD19; primary ciliary dyskinesia 19 with or with.. [+] CILD19; primary ciliary dyskinesia 19 with or without situs inversus [-]	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 on chromosome 8q24. [-]
primary ciliary dyskinesia 23	CILD23; primary ciliary dyskinesia 23 with or with.. [+] CILD23; primary ciliary dyskinesia 23 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 34	CILD34; primary ciliary dyskinesia 34 without situ.. [+] CILD34; primary ciliary dyskinesia 34 without situs inversus [-]	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. [-]
primary ciliary dyskinesia 27	CILD27; primary ciliary dyskinesia 27 without situ.. [+] CILD27; primary ciliary dyskinesia 27 without situs inversus [-]	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. [-]
primary ciliary dyskinesia 10	CILD10; primary ciliary dyskinesia 10 with or with.. [+] CILD10; primary ciliary dyskinesia 10 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 16	CILD16; primary ciliary dyskinesia 16 with or with.. [+] CILD16; primary ciliary dyskinesia 16 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 4	CILD4; primary ciliary dyskinesia 4 with or withou.. [+] CILD4; primary ciliary dyskinesia 4 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 25	CILD25; primary ciliary dyskinesia 25 with or with.. [+] CILD25; primary ciliary dyskinesia 25 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 8	CILD8; primary ciliary dyskinesia 8 with or withou.. [+] CILD8; primary ciliary dyskinesia 8 with or without situs inversus [-]	A primary ciliary dyskinesia that has_material_bas..[+] A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. [-]
primary ciliary dyskinesia 5	CILD5; primary ciliary dyskinesia 5 without situs .. [+] CILD5; primary ciliary dyskinesia 5 without situs inversus [-]	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. [-]
primary ciliary dyskinesia 13	CILD13; primary ciliary dyskinesia 13 with or with.. [+] CILD13; primary ciliary dyskinesia 13 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 33	CILD33; primary ciliary dyskinesia 33 without situ.. [+] CILD33; primary ciliary dyskinesia 33 without situs inversus [-]	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. [-]
primary ciliary dyskinesia 35	CILD35; primary ciliary dyskinesia 35 with or with.. [+] CILD35; primary ciliary dyskinesia 35 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 17	CILD17; primary ciliary dyskinesia 17 with or with.. [+] CILD17; primary ciliary dyskinesia 17 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 9	CILD9; primary ciliary dyskinesia 9 with or withou.. [+] CILD9; primary ciliary dyskinesia 9 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 15	CILD15; primary ciliary dyskinesia 15 with or with.. [+] CILD15; primary ciliary dyskinesia 15 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 30	CILD30; primary ciliary dyskinesia 30 without situ.. [+] CILD30; primary ciliary dyskinesia 30 without situs inversus [-]	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. [-]
primary ciliary dyskinesia 20	CILD20; primary ciliary dyskinesia 20 with or with.. [+] CILD20; primary ciliary dyskinesia 20 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 2	CILD2; primary ciliary dyskinesia 2 with or withou.. [+] CILD2; primary ciliary dyskinesia 2 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 26	CILD26; primary ciliary dyskinesia 26 with or with.. [+] CILD26; primary ciliary dyskinesia 26 with or without situs inversus [-]	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. [-]
primary ciliary dyskinesia 24	CILD24; primary ciliary dyskinesia 24 without situ.. [+] CILD24; primary ciliary dyskinesia 24 without situs inversus [-]	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. [-]
arthrogryposis due to muscular dystrophy	congenital muscular dystrophy producing arthrogryp.. [+] congenital muscular dystrophy producing arthrogryposis [-]	A congenital muscular dystrophy characterized by n..[+] A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. [-]
megaconial type congenital muscular dystrophy	congenital muscular dystrophy with mitochondrial s.. [+] congenital muscular dystrophy with mitochondrial structural abnormalities; congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect; congenital megaconial myopathy; megaconial congenital muscular dystrophy [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. [-]
rigid spine muscular dystrophy 1	congenital merosin-positive muscular dystrophy wit.. [+] congenital merosin-positive muscular dystrophy with early spine rigidity; classic multiminicore myopathy; classic multiminicore disease; classic MmD; desmin-related myopathy with Mallory bodies; desmin-related myopathy with Mallory body-like inclusions; early-onset desmin-related myopathy; Eichsfeld type congenital muscular dystrophy; MDRS1; rigid spine syndrome; RSMD1; RSS; SEPN1-related myopathy; severe classic form minicore myopathy; severe classic form multicore myopathy; severe classic form multiminicore disease [-]	A congenital muscular dystrophy characterized by i..[+] A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. [-]

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