Health Conditions
Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
- r(20) syndrome, see Ring chromosome 20 syndrome
- RA, see Rheumatoid arthritis
- RAB18 deficiency
- Rabson-Mendenhall syndrome
- rachischisis, see Spina bifida
- radial and patellar aplasia, see RAPADILINO syndrome
- radial and patellar hypoplasia, see RAPADILINO syndrome
- radial aplasia-amegakaryocytic thrombocytopenia, see Thrombocytopenia-absent radius syndrome
- radial aplasia-thrombocytopenia syndrome, see Thrombocytopenia-absent radius syndrome
- RAMSVPS, see Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
- RAPADILINO syndrome
- Rapid-onset dystonia parkinsonism
- Raynaud disease, see Raynaud phenomenon
- Raynaud phenomenon
- Raynaud's, see Raynaud phenomenon
- Raynaud's disease, see Raynaud phenomenon
- Raynaud's phenomenon, see Raynaud phenomenon
- Raynaud's syndrome, see Raynaud phenomenon
- 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
- recombinant chromosome 8 syndrome, see Recombinant 8 syndrome
- recurrent duplication of 17q12, see 17q12 duplication
- recurrent familial intrahepatic cholestasis, see Benign recurrent intrahepatic cholestasis
- recurrent genomic rearrangement in chromosome 17q12, see 17q12 deletion syndrome
- Recurrent hydatidiform mole
- 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
- refractory macrocytic anemia due to 5q deletion, see 5q minus syndrome
- Refsum disease
- Refsum syndrome, see Refsum disease
- Refsum's disease, see Refsum disease
- Reimann periodic disease, see Familial Mediterranean fever
- 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 dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia, see Mainzer-Saldino syndrome
- Renal hypouricemia
- renal tubular acidosis type 1b, see Renal tubular acidosis with deafness
- renal tubular acidosis type I, see SLC4A1-associated distal renal tubular acidosis
- Renal tubular acidosis with deafness
- renal tubular acidosis with progressive nerve deafness, see Renal tubular acidosis with deafness
- renal tubular acidosis, autosomal recessive, with progressive nerve deafness, see Renal tubular acidosis with deafness
- renal tubular acidosis, distal, with progressive nerve deafness, see Renal tubular acidosis with deafness
- Renal tubular dysgenesis
- renal-coloboma syndrome, see Renal coloboma syndrome
- renal-ear-anal-radial syndrome (REAR), see Townes-Brocks Syndrome
- renal-retinal syndrome, see Senior-Løken syndrome
- Renpenning syndrome
- resistance to clopidogrel, see Clopidogrel resistance
- respiratory carcinoma, see Lung cancer
- restless leg syndrome, see Restless legs syndrome
- Restless legs syndrome
- reticular pigment anomaly of flexures, see Dowling-Degos disease
- reticular pigmented anomaly of flexures, see Dowling-Degos disease
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
- retinal cone-rod dystrophy, see Cone-rod dystrophy
- retinal detachment and occipital encephalocele, see Knobloch syndrome
- Retinitis pigmentosa
- retinitis pigmentosa with erythrocytic microcytosis, see TRNT1 deficiency
- retinitis pigmentosa-deafness syndrome, see Usher syndrome
- Retinoblastoma
- Retroperitoneal fibrosis
- Rett disorder, see Rett syndrome
- Rett syndrome
- Rett's disorder, see Rett syndrome
- Rett's syndrome, see Rett syndrome
- rhabdoid predisposition syndrome, see Rhabdoid tumor predisposition syndrome
- Rhabdoid tumor predisposition syndrome
- rheostosis, see Melorheostosis
- Rheumatoid arthritis
- Rhizomelic chondrodysplasia punctata
- RHUC, see Renal hypouricemia
- riboflavin transporter deficiency, see Riboflavin transporter deficiency neuronopathy
- Riboflavin transporter deficiency neuronopathy
- ribonucleic acid polymerase III-related leukodystrophy, see Pol III-related leukodystrophy
- Richardson's syndrome, see Progressive supranuclear palsy
- Rieger anomaly, see Axenfeld-Rieger syndrome
- Rieger syndrome, see Axenfeld-Rieger syndrome
- right isomerism, see Heterotaxy 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 14, see Ring chromosome 14 syndrome
- ring 14 syndrome, see Ring chromosome 14 syndrome
- ring 20 syndrome, see Ring chromosome 20 syndrome
- ring chromosome 14, see Ring chromosome 14 syndrome
- Ring chromosome 14 syndrome
- ring chromosome 20, see Ring chromosome 20 syndrome
- ring chromosome 20 epilepsy syndrome, see Ring chromosome 20 syndrome
- Ring chromosome 20 syndrome
- Rippling muscle disease
- rippling muscle syndrome, see Rippling muscle disease
- RLS, see Restless legs syndrome
- RMD, see Rippling muscle disease
- rMED, see Multiple epiphyseal dysplasia
- RMS, see Rabson-Mendenhall syndrome
- RNAse T2-deficient leukoencephalopathy
- RNASET2-deficient cystic leukoencephalopathy, see RNAse T2-deficient leukoencephalopathy
- Roberts syndrome
- Roberts-SC phocomelia syndrome, see Roberts syndrome
- Robin sequence, see Isolated Pierre Robin sequence
- Robin syndrome, see Isolated Pierre Robin sequence
- Robinow dwarfism, see Robinow syndrome
- Robinow syndrome
- Robinow's syndrome, see Robinow syndrome
- Robinow-Silverman syndrome, see Robinow syndrome
- Robinow-Silverman-Smith syndrome, see Robinow syndrome
- rod body disease, see Nemaline myopathy
- rod monochromatism, see Achromatopsia
- rod myopathy, see Nemaline myopathy
- rod-body myopathy, see Nemaline myopathy
- rod-cone dystrophy, see Retinitis pigmentosa
- RODP, see Rapid-onset dystonia parkinsonism
- Rogers syndrome, see Thiamine-responsive megaloblastic anemia syndrome
- Roifman-Melamed syndrome, see Spondyloenchondrodysplasia with immune dysregulation
- Roifman–Costa syndrome, see Spondyloenchondrodysplasia with immune dysregulation
- Rokitansky Kuster Hauser syndrome, see Mayer-Rokitansky-Küster-Hauser syndrome
- Rokitansky syndrome, see Mayer-Rokitansky-Küster-Hauser syndrome
- Romano-Ward syndrome
- Rosenthal factor deficiency, see Factor XI deficiency
- Rosenthal syndrome, see Factor XI deficiency
- Rosenthal's disease, see Factor XI deficiency
- Rothmund-Thomson syndrome
- Rotor syndrome
- round-headed spermatozoa, see Globozoospermia
- RP, see Retinitis pigmentosa
- RPEM, see TRNT1 deficiency
- RRM2B-MDS, see RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- RSH Syndrome, see Smith-Lemli-Opitz syndrome
- RSS, see Russell-Silver syndrome
- RSTS, see Rubinstein-Taybi syndrome
- RTA with progressive nerve deafness, see Renal tubular acidosis with deafness
- RTA, classic type, see SLC4A1-associated distal renal tubular acidosis
- RTPS, see Rhabdoid tumor predisposition syndrome
- RTS, see Rubinstein-Taybi syndrome
- RTS, see Rothmund-Thomson syndrome
- RTS, see Rett syndrome
- RTT, see Rett syndrome
- Rubinstein-Taybi syndrome
- Ruprecht Majewski syndrome, see Bosma arhinia microphthalmia syndrome
- Russell-Silver syndrome
- Ruvalcaba-Myhre syndrome, see Bannayan-Riley-Ruvalcaba syndrome
- Ruvalcaba-Myhre-Smith syndrome, see Bannayan-Riley-Ruvalcaba syndrome
- RWS, see Romano-Ward syndrome
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