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Disease Synonyms Description Articles Phenotypes
autosomal recessive nonsyndromic deafness 57
autosomal recessive deafness 57; DFNB57;
An autosomal recessive nonsyndromic deafness chara..[+]
autosomal recessive nonsyndromic deafness 59
DFNB59; autosomal recessive deafness 59;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 6
autosomal recessive deafness 6; DFNB6;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 61
DFNB61; autosomal recessive deafness 61;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 62
autosomal recessive deafness 62; DFNB62;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 63
DFNB63; autosomal recessive deafness 63;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 65
autosomal recessive deafness 65; DFNB65;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 66
autosomal recessive deafness 66; DFNB66;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 67
autosomal recessive deafness 67; DFNB67;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 68
DFNB68; autosomal recessive deafness 68;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 7
autosomal recessive deafness 7; DFNB11; DFNB7;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 70
autosomal recessive deafness 70; DFNB70;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 71
autosomal recessive deafness 71; DFNB71;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 74
DFNB74; autosomal recessive deafness 74;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 76
autosomal recessive deafness 76; DFNB76;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 77
DFNB77; autosomal recessive deafness 77;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 79
autosomal recessive deafness 79; DFNB79;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 8
autosomal recessive deafness 8; childhood-onset ne.. [+]
An autosomal recessive nonsyndromic deafness that ..[+]
2 articles
autosomal recessive nonsyndromic deafness 83
DFNB83; autosomal recessive deafness 83;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 84A
autosomal recessive deafness 84A; autosomal recess.. [+]
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 84B
autosomal recessive deafness 84B; DFNB84B;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 85
autosomal recessive deafness 85; DFNB85;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 86
DFNB86; autosomal recessive deafness 86;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 88
autosomal recessive deafness 88; DFNB88;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 89
DFNB89; autosomal recessive deafness 89;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 9
autosomal recessive deafness 9; DFNB9; NRSD9; neur.. [+]
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 91
autosomal recessive deafness 91; DFNB91;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 93
autosomal recessive deafness 93; DFNB93;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 94
autosomal recessive deafness 94; DFNB94;
An autosomal recessive nonsyndromic deafness chara..[+]
autosomal recessive nonsyndromic deafness 96
autosomal recessive deafness 96; DFNB96;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 97
autosomal recessive deafness 97; DFNB97;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 98
autosomal recessive deafness 98; DFNB98;
An autosomal recessive nonsyndromic deafness that ..[+]
autosomal recessive nonsyndromic deafness 99
autosomal recessive deafness 99; DFNB99;
An autosomal recessive nonsyndromic deafness chara..[+]
autosomal recessive osteopetrosis 1
autosomal recessive Albers-Schonberg disease; OPTB.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 2
mild autosomal recessive form osteopetrosis; OPTB2.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 3
autosomal recessive osteopetrosis 3 with renal tub.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 4
infantile malignant osteopetrosis 2; OPTB4;
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 5
OPTB5; infantile malignant osteopetrosis 3;
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 6
autosomal recessive osteopetrosis intermediate for.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 7
autosomal recessive osteopetrosis type 7; OPTB7; o.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 8
OPTB8;
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive pericentral pigmentary retinopathy
A retinitis pigmentosa that is characterized autos..[+]
autosomal recessive polycystic kidney disease
Arpkd; Pkhd1; Polycystic Kidney Disease, Infantile.. [+]
A polycystic kidney disease characterized by the p..[+]
autosomal recessive progressive external ophthalmoplegia 1
PEOB1;
A chronic progressive external ophthalmoplegia tha..[+]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2
adult-onset chronic progressive external ophthalmo.. [+]
A chronic progressive external ophthalmoplegia cha..[+]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
adult-onset multiple mitochondrial DNA deletion sy.. [+]
A chronic progressive external ophthalmoplegia cha..[+]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
autosomal recessive progressive external ophthalmo.. [+]
A chronic progressive external ophthalmoplegia tha..[+]
autosomal recessive pseudohypoaldosteronism type 1
autosomal recessive PHA 1; PHA1B;
A pseudohypoaldosteronism characterized by enal sa..[+]
1 articles
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
autosomal recessive pyridoxine-refractory siderobl.. [+]
A sideroblastic anemia that is characterized by mi..[+]
autosomal recessive spinocerebellar ataxia 10
SCAR10;
n_a

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