R

OBSOLETE: Radial hemimelia, bilateralRetired termView → OBSOLETE: Radial hemimelia, unilateralRetired termView → OBSOLETE: Radiation-induced hypopituitarismRetired termView → OBSOLETE: Radio-ulnar synostosis, bilateralRetired termView → OBSOLETE: Radio-ulnar synostosis, unilateralRetired termView → OBSOLETE: Ramsay Hunt syndrome type IIRetired termView → OBSOLETE: Rapidly progressive glomerulonephritisRenalRetired termView → OBSOLETE: Rare acquired eye diseaseRetired termView → OBSOLETE: Rare bone disease with limb reduction defectRetired termView → OBSOLETE: Rare disease in physical medicine and rehabilitationRetired termView → OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathyRetired termView → OBSOLETE: Rare eye disease due to a differentiation anomalyRetired termView → OBSOLETE: Rare genetic choroidal disorderRetired termView → OBSOLETE: Rare genetic conjunctivitisRetired termView → OBSOLETE: Rare genetic glaucomaRetired termView → OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival diseaseRetired termView → OBSOLETE: Rare genetic refraction anomalyRetired termView → OBSOLETE: Rare glaucomaRetired termView → OBSOLETE: Rare hereditary iron overload diseaseRetired termView → OBSOLETE: Rare idiopathic male infertilityRetired termView → OBSOLETE: Rare inflammatory eye diseaseRetired termView → OBSOLETE: Rare major hypertriglyceridemiaRetired termView → OBSOLETE: Rare non-syndromic cataractRetired termView → OBSOLETE: Rare palpebral, lacrimal system and conjunctival diseaseRetired termView → OBSOLETE: Rare sucking/swallowing disorderRetired termView → OBSOLETE: Rare variants of adenocarcinoma of the corpus uteriOncologyRetired termView → OBSOLETE: Recessive aplasia cutis congenita of limbsRetired termView → OBSOLETE: Recessive hereditary methemoglobinemia type 1Retired termView → OBSOLETE: Recessive hereditary methemoglobinemia type 2Retired termView → OBSOLETE: Renal cell carcinoma associated with neuroblastomaRenalRetired termView → OBSOLETE: Renier-Gabreels-Jasper syndromeRetired termView → OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3OphthalmologicalRetired termView → OBSOLETE: Retrocerebellar cystNeurologicalRetired termView → OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodiesRetired termView → OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodiesRetired termView → OBSOLETE: Rosselli-Gulienetti syndromeRetired termView → Rabies3 recruitingView → Rabson-Mendenhall syndromeView → RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeImmuneView → Radial deficiency-tibial hypoplasia syndromeView → Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndromeView → Radial ray hypoplasia-choanal atresia syndromeView → Radiation myelitisView → Radiation proctitis5 recruitingView → Radiation-induced disorderGroupView → Radiation-induced plexopathyView → Radiculomegaly of canine teeth- congenital cataractView → Radio-renal syndromeRenalView → Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeBloodView → Radio-ulnar synostosis-retinal pigment abnormalities syndromeOphthalmologicalView → Radioulnar synostosis-developmental delay-hypotonia syndromeView → Radioulnar synostosis-microcephaly-scoliosis syndromeView → Ramon syndromeView → Ramos-Arroyo syndromeView → Ramsay Hunt syndrome1 recruitingView → RAPADILINO syndromeView → Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndromeView → Rapid-onset dystonia-parkinsonism3 recruitingNeurologicalView → Rapidly involuting congenital hemangiomaView → Rapp-Hodgkin syndromeView → Rare abdominal surgical diseaseGroupView → Rare acquired aplastic anemiaBloodGroupView → Rare acquired deficiency anemiaBloodGroupView → Rare acquired hemolytic anemiaBloodGroupView → Rare acquired premature ovarian failureGroupView → Rare adenocarcinoma of the breast1 recruitingOncologyView → Rare adrenal diseaseRenalGroupView → Rare adult hypothyroidismEndocrineGroupView → Rare allergic diseaseGroupView → Rare allergic respiratory diseaseGroupView → Rare andrological tumorGroupView → Rare anemiaBloodGroupView → Rare aplastic anemiaBloodGroupView → Rare ataxiaNeurologicalGroupView → Rare atrial defect and interatrial communicationGroupView → Rare autonomic nervous system disorderGroupView → Rare autosomal dominant non-syndromic sensorineural deafness type DFNAView → Rare autosomal recessive non-syndromic sensorineural deafness type DFNBView → Rare bacterial infectious diseaseGroupView → Rare benign breast tumorGroupView → Rare benign neoplastic choroidal disorderGroupView → Rare benign ovarian tumorGroupView → Rare biliary tract diseaseGroupView → Rare bone development disorderGroupView → Rare bone diseaseGroupView → Rare bone disease related to a common gene or pathway defectGroupView → Rare bone tumorGroupView → Rare brainstem or cerebellar disorder with ophthalmic involvement as a major featureNeurologicalGroupView → Rare breast malformationGroupView → Rare breast tumorGroupView → Rare bronchopulmonary and pleural cavity tumorsRespiratoryGroupView → Rare cancer of cervix uteriGroupView → Rare cancer of corpus uteriGroupView → Rare capillary malformationGroupView → Rare capillary malformation with associated anomaliesGroupView → Rare carcinoma of pancreasOncologyGroupView → Rare carcinoma of small intestineOncologyGroupView → Rare carcinoma of stomachOncologyGroupView → Rare cardiac diseaseGroupView → Rare cardiac rhythm diseaseGroupView → Rare cardiac tumorGroupView → Rare cardiomyopathyNeuromuscularGroupView → Rare cause of hypertensionGroupView → Rare central nervous system and retinal vascular diseaseOphthalmologicalGroupView → Rare cerebrovascular dementiaGroupView → Rare choreic movement disorderGroupView → Rare choroidal disorderGroupView → Rare chromosomal anomalyGroupView → Rare circulatory system diseaseGroupView → Rare coagulation disorderGroupView → Rare congenital non-syndromic heart malformationGroupView → Rare congenital-chronic-intractable diarrhea with inflammatory bowel diseaseGroupView → Rare conjunctivitisGroupView → Rare constitutional anemiaBloodGroupView → Rare constitutional aplastic anemiaBloodGroupView → Rare constitutional hemolytic anemiaBloodGroupView → Rare constitutional hemolytic anemia due to a red cell membrane anomalyBloodGroupView → Rare constitutional hemolytic anemia due to an enzyme disorderBloodGroupView → Rare corneal disorderOphthalmologicalGroupView → Rare cutaneous lichen planusGroupView → Rare deafnessGroupView → Rare deficiency anemiaBloodGroupView → Rare dementiaGroupView → Rare developmental defect during embryogenesisGroupView → Rare developmental defect with connective tissue involvementConnective TissueGroupView → Rare developmental defect with skin/mucosae involvementGroupView → Rare diabetes mellitusGroupView → Rare diabetes mellitus type 1GroupView → Rare diabetes mellitus type 2GroupView → Rare digestive tumorGroupView → Rare disease involving intestinal motilityGroupView → Rare disease with adrenal Cushing syndrome as a major featureRenalGroupView → Rare disease with autismGroupView → Rare disease with dentinogenesis imperfectaGroupView → Rare disease with glaucoma as a major featureGroupView → Rare disease with malignant hyperthermiaGroupView → Rare disease with myoclonus as a major featureGroupView → Rare disease with odontological manifestationGroupView → Rare disease with Pierre Robin syndromeGroupView → Rare disease with thoracic aortic aneurysm and aortic dissectionGroupView → Rare disorder due to inadequate sharing of the placentaGroupView → Rare disorder due to poisoningGroupView → Rare disorder due to toxic effectsGroupView → Rare disorder due to unbalanced inter-twin blood transfusionGroupView → Rare disorder involving multiple structures of the eyeGroupView → Rare disorder of the anterior segment of the eyeGroupView → Rare disorder of the lacrimal apparatusGroupView → Rare disorder of the ocular adnexaGroupView → Rare disorder of the posterior segment of the eyeGroupView → Rare disorder of the pupilGroupView → Rare disorder of the visual organsGroupView → Rare disorder potentially indicated for bowel transplantGroupView → Rare disorder potentially indicated for heart transplantGroupView → Rare disorder potentially indicated for hematopoietic stem cell transplantGroupView → Rare disorder potentially indicated for kidney transplantRenalGroupView → Rare disorder potentially indicated for liver transplantGroupView → Rare disorder potentially indicated for lung transplantGroupView → Rare disorder potentially indicated for transplantGroupView → Rare disorder potentially indicated for transplant or complication after transplantationGroupView → Rare disorder related to monochorionic twin pregnancyGroupView → Rare disorder related with pregnancy, childbirth and puerperiumGroupView → Rare disorder with a moyamoya angiopathyGroupView → Rare disorder with conjunctival involvement as a major featureGroupView → Rare disorder with corneal involvement as a major featureOphthalmologicalGroupView → Rare disorder with dystonia and other neurologic or systemic manifestationGroupView → Rare disorder with ectropionGroupView → Rare disorder with entropionGroupView → Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadismGroupView → Rare disorder with Hirschsprung disease as a major featureGroupView → Rare disorder with hypergonadotropic hypogonadismGroupView → Rare disorder with hypertrichosisGroupView → Rare disorder with inflammatory bowel diseaseGroupView → Rare disorder with lens opacificationGroupView → Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadismGroupView → Rare disorder with non-progressive generalized retinal disorder as a major featureOphthalmologicalGroupView → Rare disorder with non-progressive predominantly chorioretinal disorder as a major featureOphthalmologicalGroupView → Rare disorder with non-progressive predominantly macular disorder as a major featureOphthalmologicalGroupView → Rare disorder with obstructive azoospermiaGroupView → Rare disorder with optic disc malformationGroupView → Rare disorder with pigmented scleraGroupView → Rare disorder with progressive generalized retinal disorder as a major featureOphthalmologicalGroupView → Rare disorder with progressive predominantly chorioretinal disorder as a major featureOphthalmologicalGroupView → Rare disorder with progressive predominantly macular disorder as a major featureOphthalmologicalGroupView → Rare disorder with progressive retinal vasculopathy as a major featureOphthalmologicalGroupView → Rare disorder with progressive vitreoretinopathy disorder as a major featureOphthalmologicalGroupView → Rare disorder with ptosisGroupView → Rare disorder with strabismusGroupView → Rare disorder without a determined diagnosis after full investigationView → Rare dyslipidemiaGroupView → Rare dystoniaGroupView → Rare endocrine diseaseGroupView → Rare endocrine growth diseaseGroupView → Rare epilepsyNeurologicalGroupView → Rare epithelial tumor of colonGroupView → Rare epithelial tumor of pancreasGroupView → Rare epithelial tumor of rectumGroupView → Rare epithelial tumor of small intestineGroupView → Rare epithelial tumor of stomachGroupView → Rare eye tumorGroupView → Rare eyebrow/eyelash disorderGroupView → Rare eyelid malposition disorderGroupView → Rare familial disorder with hypertrophic cardiomyopathyNeuromuscularGroupView → Rare female infertilityGroupView → Rare female infertility due to a congenital hypogonadotropic hypogonadismGroupView → Rare female infertility due to adrenal disorder of genetic originRenalGroupView → Rare female infertility due to an adrenal disorderRenalGroupView → Rare female infertility due to an anomaly of ovarian functionGroupView → Rare female infertility due to an anomaly of ovarian function of genetic originGroupView → Rare female infertility due to an implantation defectGroupView → Rare female infertility due to gonadal dysgenesisGroupView → Rare female infertility due to hypothalamic-pituitary-gonadal axis disorderEndocrineGroupView → Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic originEndocrineGroupView → Rare female infertility due to oocyte maturation defectGroupView → Rare form of salmonellosisGroupView → Rare gastroenterologic diseaseGroupView → Rare gastroesophageal diseaseGroupView → Rare gastroesophageal tumorGroupView → Rare generalized retinal disorderOphthalmologicalGroupView → Rare genetic adrenal diseaseRenalGroupView → Rare genetic autonomic nervous system disorderGroupView → Rare genetic bone development disorderGroupView → Rare genetic bone diseaseGroupView → Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major featureNeurologicalGroupView → Rare genetic capillary malformationGroupView → Rare genetic cardiac diseaseGroupView → Rare genetic cause of hypertensionGroupView → Rare genetic coagulation disorderGroupView → Rare genetic corneal disorderOphthalmologicalGroupView → Rare genetic deafnessGroupView → Rare genetic developmental defect during embryogenesisGroupView → Rare genetic diabetes mellitusGroupView → Rare genetic diseaseGroupView → Rare genetic disease with myoclonus as a major featureGroupView → Rare genetic disorder involving multiple structures of the eyeGroupView → Rare genetic disorder of the anterior segment of the eyeGroupView → Rare genetic disorder of the lacrimal apparatusGroupView → Rare genetic disorder of the ocular adnexaGroupView → Rare genetic disorder of the posterior segment of the eyeGroupView → Rare genetic disorder of the pupilGroupView → Rare genetic disorder of the visual organsGroupView → Rare genetic disorder with conjunctival involvement as a major featureGroupView → Rare genetic disorder with corneal involvement as a major featureOphthalmologicalGroupView → Rare genetic disorder with entropionGroupView → Rare genetic disorder with lens opacificationGroupView → Rare genetic disorder with obstructive azoospermiaGroupView → Rare genetic disorder with progressive vasculopathy disorder as a major featureGroupView → Rare genetic disorder with strabismusGroupView → Rare genetic dystoniaGroupView → Rare genetic endocrine diseaseGroupView → Rare genetic epilepsyNeurologicalGroupView → Rare genetic eye diseaseGroupView → Rare genetic eyelid malposition disorderGroupView → Rare genetic female infertilityGroupView → Rare genetic gastroenterological diseaseGroupView → Rare genetic generalized retinal disorderOphthalmologicalGroupView → Rare genetic gynecological and obstetrical diseasesGroupView → Rare genetic headacheGroupView → Rare genetic hematologic diseaseGroupView → Rare genetic hepatic diseaseGroupView → Rare genetic hyperkinetic movement disorderGroupView → Rare genetic hypothalamic or pituitary diseaseEndocrineGroupView → Rare genetic immune diseaseGroupView → Rare genetic inflammatory/autoimmune corneal disorderImmuneGroupView → Rare genetic intellectual disabilityGroupView → Rare genetic isolated non-progressive predominantly chorioretinal disorderOphthalmologicalGroupView → Rare genetic isolated non-progressive predominantly macular disorderOphthalmologicalGroupView → Rare genetic isolated progressive generalized retinal disorderOphthalmologicalGroupView → Rare genetic isolated progressive predominantly chorioretinal disorderOphthalmologicalGroupView → Rare genetic isolated progressive predominantly macular disorderOphthalmologicalGroupView → Rare genetic isolated progressive retinal vasculopathyOphthalmologicalGroupView → Rare genetic macular disorderOphthalmologicalGroupView → Rare genetic male infertilityGroupView → Rare genetic medullar diseaseGroupView → Rare genetic movement disorderGroupView → Rare genetic myoclonusGroupView → Rare genetic neurological disorderGroupView → Rare genetic neuromuscular disorder with ocular motility/alignment anomalyGroupView → Rare genetic nevusGroupView → Rare genetic non-progressive predominantly chorioretinal disorderOphthalmologicalGroupView → Rare genetic non-progressive predominantly macular disorderOphthalmologicalGroupView → Rare genetic non-progressive retinal vasculopathyOphthalmologicalGroupView → Rare genetic ocular motility/alignment disorderGroupView → Rare genetic odontal or periodontal disorderGroupView → Rare genetic odontologic diseaseGroupView → Rare genetic ophthalmic disorder with cortical involvementOphthalmologicalGroupView → Rare genetic ophthalmic disorder with cranial nerve involvementOphthalmologicalGroupView → Rare genetic optic nerve disorderGroupView → Rare genetic palpebral disorderGroupView → Rare genetic parathyroid disease and phosphocalcic metabolism disorderEndocrineGroupView → Rare genetic parkinsonian disorderNeurologicalGroupView → Rare genetic predominantly chorioretinal disorderOphthalmologicalGroupView → Rare genetic premature ovarian failureGroupView → Rare genetic progressive generalized retinal disorderOphthalmologicalGroupView → Rare genetic progressive predominantly chorioretinal disorderOphthalmologicalGroupView → Rare genetic progressive predominantly macular disorderOphthalmologicalGroupView → Rare genetic progressive retinal vasculopathyOphthalmologicalGroupView → Rare genetic renal diseaseRenalGroupView → Rare genetic respiratory diseaseGroupView → Rare genetic retinal disorderOphthalmologicalGroupView → Rare genetic retinal vasculopathyOphthalmologicalGroupView → Rare genetic skin diseaseGroupView → Rare genetic syndromic intellectual disabilityGroupView → Rare genetic systemic or rheumatologic diseaseGroupView → Rare genetic thyroid diseaseEndocrineGroupView → Rare genetic tremor disorderGroupView → Rare genetic tumorGroupView → Rare genetic urogenital diseaseGroupView → Rare genetic vascular diseaseGroupView → Rare genetic vascular tumorGroupView → Rare genetic venous malformationGroupView → Rare gynecologic or obstetric diseaseGroupView → Rare gynecological tumorGroupView → Rare head and neck malformationGroupView → Rare head and neck tumorGroupView → Rare headacheGroupView → Rare hematologic diseaseGroupView → Rare hemolytic anemiaBloodGroupView → Rare hemorrhagic disorderGroupView → Rare hemorrhagic disorder due to a coagulation factors defectGroupView → Rare hemorrhagic disorder due to a constitutional coagulation factors defectGroupView → Rare hemorrhagic disorder due to a constitutional platelet anomalyGroupView → Rare hemorrhagic disorder due to a constitutional thrombocytopeniaBloodGroupView → Rare hemorrhagic disorder due to a platelet anomalyGroupView → Rare hemorrhagic disorder due to a qualitative platelet defectGroupView → Rare hemorrhagic disorder due to an acquired coagulation factor defectGroupView → Rare hemorrhagic disorder due to an acquired platelet anomalyGroupView → Rare hepatic and biliary tract tumorGroupView → Rare hepatic diseaseGroupView → Rare hereditary autoinflammatory diseaseImmuneGroupView → Rare hereditary connective tissue diseaseConnective TissueGroupView → Rare hereditary disease with avascular necrosisGroupView → Rare hereditary disease with peripheral neuropathyGroupView → Rare hereditary hemochromatosisGroupView → Rare hereditary metabolic disease with peripheral neuropathyGroupView → Rare hereditary neurologic disease with peripheral neuropathyGroupView → Rare hereditary systemic disease with peripheral neuropathyGroupView → Rare hypercholesterolemiaGroupView → Rare hyperkinetic movement disorderGroupView → Rare hyperlipidemiaGroupView → Rare hyperopia and astigmatismGroupView → Rare hyperparathyroidismEndocrineGroupView → Rare hyperthyroidismEndocrineGroupView → Rare hypoaldosteronismGroupView → Rare hypolipidemiaGroupView → Rare hypoparathyroidismEndocrineGroupView → Rare hypothalamic or pituitary diseaseEndocrineGroupView → Rare hypothyroidismEndocrineGroupView → Rare idiopathic macular telangiectasiaOphthalmologicalGroupView → Rare immune diseaseGroupView → Rare immune disease with inflammatory bowel diseaseGroupView → Rare inborn error of metabolism with inflammatory bowel diseaseGroupView → Rare inborn errors of metabolismGroupView → Rare infectious diseaseGroupView → Rare infertilityGroupView → Rare inflammatory bowel diseaseGroupView → Rare inflammatory choroidal disorderGroupView → Rare inflammatory/autoimmune corneal disorderImmuneGroupView → Rare insulin-resistance syndromeGroupView → Rare intellectual disabilityGroupView → Rare intestinal diseaseGroupView → Rare intoxication due to medical productsGroupView → Rare isolated developmental choroidal disorderGroupView → Rare isolated myopiaView → Rare isolated non-progressive generalized retinal disorderOphthalmologicalGroupView → Rare isolated non-progressive predominantly chorioretinal disorderOphthalmologicalGroupView → Rare isolated non-progressive predominantly macular disorderOphthalmologicalGroupView → Rare isolated progressive generalized retinal disorderOphthalmologicalGroupView → Rare isolated progressive predominantly chorioretinal disorderOphthalmologicalGroupView → Rare isolated progressive predominantly macular disorderOphthalmologicalGroupView → Rare isolated progressive retinal vasculopathyOphthalmologicalGroupView → Rare isolated progressive vitreoretinopathyOphthalmologicalGroupView → Rare lens diseaseGroupView → Rare lichen planusGroupView → Rare macular disorderOphthalmologicalGroupView → Rare male infertilityGroupView → Rare male infertility due to adrenal disorderRenalGroupView → Rare male infertility due to adrenal disorder of genetic originRenalGroupView → Rare male infertility due to hypothalamic-pituitary-gonadal axis disorderEndocrineGroupView → Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic originEndocrineGroupView → Rare male infertility due to testicular endocrine disorderGroupView → Rare malignant breast tumorGroupView → Rare malignant epithelial tumor of liver and intrahepatic biliary tractGroupView → Rare malignant neoplastic choroidal disorderGroupView → Rare maxillo-facial surgical diseaseGroupView → Rare metabolic liver diseaseGroupView → Rare miscellaneous disease with inflammatory bowel diseaseGroupView → Rare mitochondrial non-syndromic sensorineural deafness1 recruitingMitochondrialView → Rare movement disorderGroupView → Rare mucosal lichen planusGroupView → Rare mycosisGroupView → Rare myoclonusGroupView → Rare nail tumorGroupView → Rare neoplastic choroidal disorderGroupView → Rare neoplastic diseaseGroupView → Rare nervous system tumorGroupView → Rare neurodegenerative diseaseNeurologicalGroupView → Rare neuroinflammatory or neuroimmunological diseaseGroupView → Rare neurologic diseaseGroupView → Rare neurologic disease with psychiatric involvementGroupView → Rare neuromuscular disorder with ocular motility/alignment anomalyGroupView → Rare nevusGroupView → Rare non surgically correctable form of primary aldosteronismGroupView → Rare non-acquired premature ovarian failureGroupView → Rare non-malformative breast diseaseGroupView → Rare non-malformative gynecologic or obstetric diseaseGroupView → Rare non-malformative uterine adnexal diseaseGroupView → Rare non-malformative uterovaginal or vulvovaginal diseaseGroupView → Rare non-progressive generalized retinal disorderOphthalmologicalGroupView → Rare non-progressive predominantly chorioretinal disorderOphthalmologicalGroupView → Rare non-progressive predominantly macular disorderOphthalmologicalGroupView → Rare non-progressive retinal vasculopathyOphthalmologicalGroupView → Rare non-progressive vitreoretinopathyOphthalmologicalGroupView → Rare non-syndromic genetic deafness1 recruitingView → Rare non-syndromic intellectual disability1 recruitingView → Rare ocular motility/alignment disorderGroupView → Rare oculomotor nerve disorderGroupView → Rare odontal or periodontal disorderGroupView → Rare odontogenic tumorGroupView → Rare odontologic diseaseGroupView → Rare ophthalmic disorderOphthalmologicalGroupView → Rare ophthalmic disorder with cortical involvementOphthalmologicalGroupView → Rare ophthalmic disorder with cranial nerve involvementOphthalmologicalGroupView → Rare optic nerve disorderGroupView → Rare otorhinolaryngologic diseaseGroupView → Rare otorhinolaryngologic tumorGroupView → Rare otorhinolaryngological malformationGroupView → Rare ovarian cancerGroupView → Rare palpebral disorderGroupView → Rare pancreatic diseaseGroupView → Rare paraneoplastic choroidal disorderGroupView → Rare parasitic diseaseGroupView → Rare parathyroid disease and phosphocalcic metabolism anomalyEndocrineGroupView → Rare parathyroid tumorEndocrineGroupView → Rare parenchymal liver diseaseGroupView → Rare parkinsonian disorderNeurologicalGroupView → Rare parkinsonian syndrome due to genetic neurodegenerative diseaseNeurologicalGroupView → Rare parkinsonian syndrome due to intoxicationNeurologicalGroupView → Rare parkinsonian syndrome due to neurodegenerative diseaseNeurologicalGroupView → Rare paroxysmal movement disorderGroupView → Rare pediatric rheumatologic diseaseGroupView → Rare pediatric systemic diseaseGroupView → Rare pediatric vasculitisImmuneGroupView → Rare peripheral neuropathyGroupView → Rare peripheral precocious pubertyGroupView → Rare pervasive developmental disorderGroupView → Rare photodermatosisGroupView → Rare precocious pubertyGroupView → Rare precocious puberty in femaleGroupView → Rare predominantly chorioretinal disorderOphthalmologicalGroupView → Rare primary hyperaldosteronismGroupView → Rare progressive generalized retinal disorderOphthalmologicalGroupView → Rare progressive predominantly chorioretinal disorderOphthalmologicalGroupView → Rare progressive predominantly macular disorderOphthalmologicalGroupView → Rare progressive retinal vasculopathyOphthalmologicalGroupView → Rare progressive vitreoretinopathyOphthalmologicalGroupView → Rare pulmonary diseaseRespiratoryGroupView → Rare pulmonary hypertensionRespiratoryGroupView → Rare refraction anomalyGroupView → Rare renal diseaseRenalGroupView → Rare renal tubular diseaseRenalGroupView → Rare renal tumorRenalGroupView → Rare respiratory diseaseGroupView → Rare respiratory tumorGroupView → Rare retinal disorderOphthalmologicalGroupView → Rare retinal vasculopathyOphthalmologicalGroupView → Rare rheumatologic diseaseGroupView → Rare scleral disorderGroupView → Rare skin diseaseGroupView → Rare skin disease with inflammatory bowel diseaseGroupView → Rare skin tumor or hamartomaGroupView → Rare sleep disorderGroupView → Rare soft tissue tumorGroupView → Rare surgical cardiac diseaseGroupView → Rare surgical thoracic diseaseGroupView → Rare surgically correctable form of primary aldosteronismGroupView → Rare syndrome with cardiac malformationsGroupView → Rare syndromic dyslipidemiaGroupView → Rare syndromic genetic deafnessGroupView → Rare syndromic intellectual disabilityGroupView → Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndromeGroupView → Rare systemic diseaseGroupView → Rare systemic or rheumatologic diseaseGroupView → Rare systemic or rheumatologic diseases with inflammatory bowel diseaseGroupView → Rare systemic or rheumatological disease of childhoodGroupView → Rare teratologic diseaseGroupView → Rare thrombotic disease of hematologic originGroupView → Rare thrombotic disorder due to a coagulation factors defectGroupView → Rare thrombotic disorder due to a constitutional coagulation factors defectGroupView → Rare thrombotic disorder due to a constitutional platelet anomalyGroupView → Rare thrombotic disorder due to a platelet anomalyGroupView → Rare thrombotic disorder due to an acquired coagulation factors defectGroupView → Rare thrombotic disorder due to an acquired platelet anomalyGroupView → Rare thyroid carcinomaEndocrineGroupView → Rare thyroid diseaseEndocrineGroupView → Rare thyroid tumorEndocrineGroupView → Rare tremor disorderGroupView → Rare trochlear nerve disorderGroupView → Rare tumorGroupView → Rare tumor of gallbladder and extrahepatic biliary tractGroupView → Rare tumor of intestineGroupView → Rare tumor of liver and intrahepatic biliary tractGroupView → Rare tumor of neuroepithelial tissueGroupView → Rare tumor of pancreasGroupView → Rare tumor of salivary glandsGroupView → Rare tumor of small intestineGroupView → Rare urinary tract tumorGroupView → Rare urogenital diseaseGroupView → Rare urogenital tumorGroupView → Rare urticariaGroupView → Rare uterine adnexal tumorGroupView → Rare uterine cancerGroupView → Rare vaginal malformationGroupView → Rare vascular anomalyGroupView → Rare vascular choroidal disorderGroupView → Rare vascular diseaseGroupView → Rare vascular liver diseaseGroupView → Rare vascular malformation of major vesselsGroupView → Rare vascular tumorGroupView → Rare viral diseaseGroupView → Rare virus associated tumorGroupView → Rare vulvovaginal tumorGroupView → Rare X-linked non-syndromic sensorineural deafness type DFNView → Rare Y-linked non-syndromic sensorineural deafness type DFNYView → Rare yersiniosisGroupView → RARS-related autosomal recessive hypomyelinating leukodystrophyNeurologicalView → RAS-associated autoimmune leukoproliferative disease1 recruitingImmuneView → RASA1-related capillary malformation-arteriovenous malformationView → Rasmussen subacute encephalitis2 recruitingView → RASopathyGroupView → Rat-bite feverView → Rauch-Steindl syndromeView → Ravine syndromeView → Reactive angioendotheliomatosisView → Reactive arthritis6 recruitingView → Recessive Dystrophic Epidermolysis Bullosa9 recruitingDermatologicalView → Recessive dystrophic epidermolysis bullosa inversaDermatologicalView → Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeView → Recessive mitochondrial ataxia syndrome2 recruitingNeurologicalView → Recessive X-linked ichthyosisDermatologicalView → Recombinant 8 syndromeView → Recurrent idiopathic neuroretinitisOphthalmologicalView → Recurrent infections associated with rare immunoglobulin isotypes deficiencyView → Recurrent infections due to specific granule deficiencyView → Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeCardiovascularView → Recurrent Neisseria infections due to factor D deficiencyView → Recurrent respiratory papillomatosis6 recruitingView → Reducing body myopathyNeuromuscularView → Refractory anemia with excess blasts in transformationBloodView → Refractory celiac disease1 recruitingView → Regional odontodysplasiaView → Regressive spondylometaphyseal dysplasiaView → Reis-Bücklers corneal dystrophyOphthalmologicalView → RELA fusion-positive ependymomaView → Relapsing epidemic typhusView → Relapsing fever3 recruitingView → Relapsing isolated optic neuritis1 recruitingView → Relapsing Polychondritis4 recruitingImmuneView → REN-related autosomal dominant tubulointerstitial kidney diseaseRenalView → Renal agenesis6 recruitingRenalView → Renal agenesis, bilateral3 recruitingRenalView → Renal agenesis, unilateral2 recruitingRenalView → Renal arteriovenous malformation7 recruitingRenalView → Renal caliceal diverticuli-deafness syndromeRenalView → Renal ciliopathyRenalGroupView → Renal coloboma syndromeRenalView → Renal disease with cataractRenalGroupView → Renal dysplasia10 recruitingRenalView → Renal dysplasia-megalocystis-sirenomelia syndromeRenalView → Renal dysplasia, bilateral5 recruitingRenalView → Renal dysplasia, unilateral3 recruitingRenalView → Renal hypoplasia2 recruitingRenalView → Renal hypoplasia, bilateral2 recruitingRenalView → Renal hypoplasia, unilateralRenalView → Renal medullary carcinoma8 recruitingRenalView → Renal nutcracker syndrome1 recruitingRenalView → Renal or urinary tract malformationRenalGroupView → Renal pseudohypoaldosteronism type 11 recruitingRenalView → Renal tubular dysgenesis15 recruitingRenalView → Renal tubular dysgenesis due to twin-twin transfusionRenalView → Renal tubular dysgenesis of genetic originRenalView → Renal tubulopathy-encephalopathy-liver failure syndromeNeurologicalView → Renal-genital-middle ear anomaliesRenalView → Renal-hepatic-pancreatic dysplasiaRenalView → Renin-angiotensin-aldosterone system-blocker-induced angioedemaView → Renpenning syndromeView → RERE-related neurodevelopmental syndromeView → Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alphaEndocrineView → Resistance to thyroid hormone due to a mutation in thyroid hormone receptor betaEndocrineView → Resistance to thyrotropin-releasing hormone syndromeView → Respiratory bronchiolitis-interstitial lung disease syndrome1 recruitingRespiratoryView → Respiratory malformationGroupView → Respiratory or mediastinal malformationGroupView → Respiratory or thoracic malformationGroupView → Restrictive Cardiomyopathy5 recruitingCardiovascularView → Restrictive dermopathy2 recruitingView → Retained medullary cordView → Reticular dysgenesisView → Reticular dysgenesis-like severe combined immunodeficiencyImmuneView → Reticular dystrophy of the retinal pigment epitheliumOphthalmologicalView → Reticular perineuriomaView → Reticulate acropigmentation of KitamuraView → Retiform hemangioendotheliomaView → Retinal capillary malformation2 recruitingOphthalmologicalView → Retinal ciliopathyOphthalmologicalGroupView → Retinal ciliopathy due to mutation in Bardet-Biedl geneOphthalmologicalGroupView → Retinal ciliopathy due to mutation in nephronophthisis geneRenalGroupView → Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 geneOphthalmologicalGroupView → Retinal ciliopathy due to mutation in the RPGR geneOphthalmologicalGroupView → Retinal ciliopathy due to mutation in the RPGRIP geneOphthalmologicalGroupView → Retinal ciliopathy due to mutation in Usher geneOphthalmologicalGroupView → Retinal degeneration-nanophthalmos-glaucoma syndromeOphthalmologicalView → Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 recruitingOphthalmologicalView → Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndromeOphthalmologicalView → Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndromeOphthalmologicalView → Retinal macular dystrophy type 24 recruitingOphthalmologicalView → Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 recruitingNeurologicalView → Retinitis Pigmentosa48 recruitingOphthalmologicalView → Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndromeOphthalmologicalView → Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome2 recruitingOphthalmologicalView → Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome1 recruitingOphthalmologicalView → Retinitis punctata albescens1 recruitingOphthalmologicalView → Retinoblastoma22 recruitingOncologyView → Retinohepatoendocrinologic syndromeView → Retinopathy of prematurity16 recruitingView → Retroperitoneal arteriovenous malformationView → Rett Syndrome15 recruitingNeurologicalView → Reunion Island Larsen-like syndromeView → Reversible cerebral vasoconstriction syndromeView → Revesz syndrome1 recruitingView → Reye syndromeView → Reynolds syndromeView → RFT1-CDGView → RFVT2-related riboflavin transporter deficiencyView → RFVT3-related riboflavin transporter deficiencyView → Rh deficiency syndromeView → Rhabdoid tumor24 recruitingView → Rhabdoid tumor predisposition syndrome2 recruitingView → Rhabdomyosarcoma47 recruitingOncologyView → Rhabdomyosarcoma of the cervix uteriOncologyView → Rhabdomyosarcoma of the corpus uteriOncologyView → Rheumatic fever20 recruitingView → Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisView → Rheumatoid factor-positive polyarticular juvenile idiopathic arthritisView → Rhizomelic chondrodysplasia punctata2 recruitingView → Rhizomelic chondrodysplasia punctata type 12 recruitingView → Rhizomelic chondrodysplasia punctata type 22 recruitingView → Rhizomelic chondrodysplasia punctata type 32 recruitingView → Rhizomelic chondrodysplasia punctata type 52 recruitingView → Rhizomelic dysplasia, Patterson-Lowry typeView → Rhizomelic syndrome, Urbach typeView → RhombencephalosynapsisView → RHYNS syndromeView → Riboflavin transporter deficiencyView → Ribose-5-P isomerase deficiencyView → Richards-Rundle syndromeView → Richieri Costa-da Silva syndromeView → Richieri Costa-Pereira syndromeView → Ricin poisoningView → Rickettsial diseaseGroupView → RickettsialpoxView → RIDDLE syndromeView → Rieger anomaly2 recruitingView → Rift valley fever2 recruitingView → Right aortic archView → Right inferior vena cava connecting to left-sided atriumView → Right isomerism1 recruitingView → Right superior vena cava connecting to left-sided atriumView → Rigid Spine Muscular Dystrophy2 recruitingNeuromuscularView → Rigid spine syndrome1 recruitingView → RIN2 syndromeView → Ring chromosome 1 syndromeView → Ring chromosome 10 syndromeView → Ring chromosome 11 syndromeView → Ring chromosome 12 syndromeView → Ring chromosome 13 syndromeView → Ring chromosome 14 syndromeView → Ring chromosome 15 syndromeView → Ring chromosome 16 syndromeView → Ring chromosome 17 syndromeView → Ring chromosome 18 syndromeView → Ring chromosome 19 syndromeView → Ring chromosome 2 syndromeView → Ring chromosome 20 syndromeView → Ring chromosome 21 syndromeView → Ring chromosome 22 syndromeView → Ring chromosome 3 syndromeView → Ring chromosome 4 syndromeView → Ring chromosome 5 syndromeView → Ring chromosome 6 syndromeView → Ring chromosome 7 syndromeView → Ring chromosome 8 syndromeView → Ring chromosome 9 syndromeView → Ring chromosome syndromeGroupView → Ring chromosome Y syndromeView → Ring dermoid of corneaView → Ringed hair diseaseView → Rippling muscle diseaseView → Rippling muscle disease with myasthenia gravisNeuromuscularView → RNASEH2B-related hereditary spastic paraplegiaView → RNF13-related severe early-onset epileptic encephalopathyNeurologicalView → RNU4-2-related autosomal dominant neurodevelopmental disorderView → Roberts syndromeView → Robin sequence-oligodactyly syndromeView → Robinow syndromeView → Robinow-like syndromeView → Robinow-Sorauf syndromeView → Roch-Leri mesosomatous lipomatosisView → Rocky Mountain spotted feverView → Roifman syndrome2 recruitingView → Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeNeurologicalView → Rolandic epilepsy-speech dyspraxia syndromeNeurologicalView → Romano-Ward syndromeView → Rombo syndromeView → Rosaï-Dorfman diseaseView → Rosette-forming glioneuronal tumor1 recruitingView → Rothmund-Thomson syndrome1 recruitingView → Rothmund-Thomson syndrome type 11 recruitingView → Rothmund-Thomson syndrome type 21 recruitingView → Rothmund-Thomson syndrome type 3View → Rothmund-Thomson syndrome type 4View → Rotor syndrome1 recruitingView → Roussy-Lévy syndrome75 recruitingView → Rowell syndromeView → Rubella panencephalitisView → Rubinstein-Taybi syndrome2 recruitingView → Rubinstein-Taybi syndrome due to 16p13.3 microdeletionView → Rubinstein-Taybi syndrome due to CREBBP mutationsView → Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyView → Rudiger syndromeView → Ruvalcaba syndromeView →