About
Site Map
Contact Us
Search
A service of the
U.S. National Library of Medicine®
Home
Conditions
Genes
Chromosomes
Handbook
Glossary
Resources
Genetic Conditions
>
Browse Conditions
1-9
|
A
|
B
|
C
|
D
|
E
|
F
|
G
|
H
|
I
|
J
|
K
|
L
|
M
|
N
|
O
|
P
|
Q-R
|
S
|
T
|
U
|
V
|
W
|
X
|
Y-Z
QSM
see
inclusion body myopathy 2
question-mark ear syndrome
see
auriculo-condylar syndrome
r(20) syndrome
see
ring chromosome 20 syndrome
rachischisis
see
spina bifida
radial aplasia-amegakaryocytic thrombocytopenia
see
thrombocytopenia-absent radius syndrome
radial aplasia-thrombocytopenia syndrome
see
thrombocytopenia-absent radius syndrome
rapid-onset dystonia parkinsonism
Rashes
RB
see
retinoblastoma
RBS
see
Roberts syndrome
RCDP
see
rhizomelic chondrodysplasia punctata
RCM
see
familial restrictive cardiomyopathy
RCP
see
rhizomelic chondrodysplasia punctata
RCS
see
renal coloboma syndrome
RDP
see
rapid-onset dystonia parkinsonism
rec(8) syndrome
see
recombinant 8 syndrome
recessive ataxia of Beauce
see
autosomal recessive cerebellar ataxia type 1
Recklinghausen Disease, Nerve
see
neurofibromatosis type 1
recombinant 8 syndrome
recurrent familial intrahepatic cholestasis
see
benign recurrent intrahepatic cholestasis
recurrent intrahepatic cholestasis of pregnancy
see
intrahepatic cholestasis of pregnancy
Recurrent polyserositis
see
familial Mediterranean fever
Reed's syndrome
see
hereditary leiomyomatosis and renal cell cancer
Refsum disease
Reimann periodic disease
see
familial Mediterranean fever
6q24-related transient neonatal diabetes mellitus
REN-related kidney disease
renal carnitine transport defect
see
primary carnitine deficiency
renal coloboma syndrome
renal dysplasia and retinal aplasia
see
Senior-Løken syndrome
renal-ear-anal-radial syndrome (REAR)
see
Townes-Brocks Syndrome
renal-retinal syndrome
see
Senior-Løken syndrome
Rendu-Osler-Weber
see
hereditary hemorrhagic telangiectasia
Renpenning syndrome
Respiratory Failure
reticular pigment anomaly of flexures
see
Dowling-Degos disease
Retinal Degeneration
retinal detachment and occipital encephalocele
see
Knobloch syndrome
Retinal Disorders
retinitis pigmentosa
Retinitis pigmentosa-deafness syndrome
see
Usher syndrome
retinoblastoma
Retinoschisis
see
X-linked juvenile retinoschisis
Rett syndrome
rhizomelic chondrodysplasia punctata
Richardson's syndrome
see
progressive supranuclear palsy
Rickets
see
hereditary hypophosphatemic rickets
Rieger anomaly
see
Axenfeld-Rieger syndrome
Rieger syndrome
see
Axenfeld-Rieger syndrome
right ventricular dysplasia, arrhythmogenic
see
arrhythmogenic right ventricular cardiomyopathy
Riley-Day Syndrome
see
familial dysautonomia
Riley-Smith syndrome
see
Bannayan-Riley-Ruvalcaba syndrome
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
rod body disease
see
nemaline myopathy
rod-body myopathy
see
nemaline myopathy
rod-cone dystrophy
see
retinitis pigmentosa
rod myopathy
see
nemaline myopathy
RODP
see
rapid-onset dystonia parkinsonism
Rogers syndrome
see
thiamine-responsive megaloblastic anemia syndrome
Romano-Ward syndrome
Rothmund-Thomson Syndrome
RP
see
retinitis pigmentosa
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
Ruvalcaba-Myhre-Smith syndrome
see
Bannayan-Riley-Ruvalcaba syndrome
Ruvalcaba-Myhre syndrome
see
Bannayan-Riley-Ruvalcaba syndrome
RWS
see
Romano-Ward syndrome
Published: February 11, 2013