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QSM see inclusion body myopathy 2
r(20) syndrome see ring chromosome 20 syndrome
radial aplasia-amegakaryocytic thrombocytopenia see thrombocytopenia-absent radius syndrome
Radial aplasia-thrombocytopenia syndrome see thrombocytopenia-absent radius syndrome
rapid-onset dystonia parkinsonism
RB see retinoblastoma
RBS see Roberts syndrome
RCS see renal coloboma syndrome
RDP see rapid-onset dystonia parkinsonism
rec(8) syndrome see recombinant 8 syndrome
Recklinghausen Disease, Nerve see neurofibromatosis type 1
recombinant 8 syndrome
Recurrent polyserositis see familial Mediterranean fever
Reed's syndrome see hereditary leiomyomatosis and renal cell cancer
Reimann periodic disease see familial Mediterranean fever
Renal carnitine transport defect see primary carnitine deficiency
renal coloboma syndrome
renal-ear-anal-radial syndrome (REAR) see Townes-Brocks Syndrome
Rendu-Osler-Weber see hereditary hemorrhagic telangiectasia
Reproductive Health see Y chromosome infertility
Retinal Degeneration
Retinal Disorders
Retinitis pigmentosa-deafness syndrome see Usher syndrome
retinoblastoma
Retinoschisis see X-linked juvenile retinoschisis
Rett syndrome
Riley-Day Syndrome see familial dysautonomia
Rimmed vacuole myopathy see inclusion body myopathy 2
ring chromosome 14 syndrome
ring chromosome 20 syndrome
Ring Chromosomes
rMED see multiple epiphyseal dysplasia
Roberts syndrome
Robinow syndrome
RODP see rapid-onset dystonia parkinsonism
Rogers syndrome see thiamine-responsive megaloblastic anemia syndrome
Romano-Ward syndrome
Rothmund-Thomson Syndrome
RSH Syndrome see Smith-Lemli-Opitz syndrome
RSS see Russell-Silver syndrome
RSTS see Rubinstein-Taybi syndrome
RTS see Rett syndrome; Rothmund-Thomson Syndrome; Rubinstein-Taybi syndrome
RTT see Rett syndrome
Rubinstein-Taybi syndrome
Russell-Silver syndrome
RWS see Romano-Ward syndrome


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