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- r(1) syndrome
- r(11) syndrome
- r(22) syndrome
- r(4) syndrome
- r(8) syndrome
- r(Y)
- R-ACAOS
- RA
- RAAS-blocker-induced angioedema
- RAAS-blocker-induced angioneurotic edema
- Rabies
- Rabson-Mendenhall syndrome
- RAC2-related CID
- RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
- RAC3-related syndrome
- RAD50 deficiency
- Radial deficiency-tibial hypoplasia syndrome
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
- Radial ray hypoplasia-choanal atresia syndrome
- Radiation myelitis
- Radiation proctitis
- Radiation-induced disorder
- Radiation-induced plexopathy
- Radicular dentin dysplasia
- Radio-renal syndrome
- Radio-Tartaglia syndrome
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- Radioulnar synostosis-microcephaly-scoliosis syndrome
- RAE
- RAE
- RAEB
- RAEB-1
- RAEB-2
- RAEB-t
- Rahman syndrome
- RAI
- RAID
- Raine syndrome
- Rajab-Spranger syndrome
- RAK
- RALD
- Rambam-Hasharon syndrome
- Rambaud-Gallian syndrome
- Rambaud-Gallian-Touchard syndrome
- Ramon syndrome
- Ramos-Arroyo syndrome
- Ramsay Hunt syndrome
- Randall disease
- RAPADILINO syndrome
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome
- Rapid-onset dystonia-parkinsonism
- Rapidely progressive cerebellar syndrome
- Rapidly involuting congenital hemangioma
- Rare abdominal surgical disease
- Rare acquired aplastic anemia
- Rare acquired deficiency anemia
- Rare acquired hemolytic anemia
- Rare acquired premature ovarian failure
- Rare adenocarcinoma of the breast
- Rare adrenal disease
- Rare adrenocortical nodular disease
- Rare adrenocortical nodular disease with Cushing syndrome as a major feature
- Rare adult hypothyroidism
- Rare allergic disease
- Rare allergic respiratory disease
- Rare allergy
- Rare andrological tumor
- Rare anemia
- Rare aplastic anemia
- Rare arteriovenous malformation
- Rare ASD
- Rare ataxia
- Rare atrial defect and interatrial communication
- Rare autism spectrum disorder
- Rare autonomic nervous system disorder
- Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
- Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
- Rare bacterial infectious disease
- Rare benign breast tumor
- Rare benign ovarian tumor
- Rare biliary tract disease
- Rare bleeding disorder
- Rare bleeding disorder due to a coagulation factors defect
- Rare bleeding disorder due to a constitutional coagulation factors defect
- Rare bleeding disorder due to a constitutional platelet anomaly
- Rare bleeding disorder due to a constitutional thrombocytopenia
- Rare bleeding disorder due to a constitutional thrombopathy
- Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia
- Rare bleeding disorder due to a platelet anomaly
- Rare bleeding disorder due to a qualitative platelet defect
- Rare bleeding disorder due to a quantitative platelet defect
- Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia
- Rare bleeding disorder due to an acquired coagulation factor defect
- Rare bleeding disorder due to an acquired platelet anomaly
- Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia
- Rare bone development disorder
- Rare bone disease
- Rare bone disease related to a common gene or pathway defect
- Rare bone tumor
- Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
- Rare breast cancer
- Rare breast malformation
- Rare breast tumor
- Rare bronchopulmonary and pleural cavity tumors
- Rare cancer of cervix uteri
- Rare cancer of corpus uteri
- Rare cancer of uterus
- Rare capillary malformation
- Rare capillary malformation with associated anomalies
- Rare carcinoma of pancreas
- Rare carcinoma of small bowel
- Rare carcinoma of small intestine
- Rare carcinoma of stomach
- Rare cardiac disease
- Rare cardiac rhythm disease
- Rare cardiac tumor
- Rare cardiomyopathy
- Rare cataract
- Rare cause of hypertension
- Rare central nervous system and retinal vascular disease
- Rare central precocious puberty
- Rare central precocious puberty in female
- Rare central precocious puberty in girl
- Rare cerebrovascular dementia
- Rare cervical cancer
- Rare cervical malignant tumor
- Rare choreic movement disorder
- Rare choroidal disorder
- Rare chromosomal anomaly
- Rare circulatory system disease
- Rare coagulation disorder
- Rare coagulopathy due to a coagulation factor defect
- Rare coagulopathy due to a constitutional coagulation factors defect
- Rare coagulopathy due to a constitutional platelet anomaly
- Rare coagulopathy due to a constitutional thrombocytopenia
- Rare coagulopathy due to a constitutional thrombopathy
- Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia
- Rare coagulopathy due to a platelet anomaly
- Rare coagulopathy due to a qualitative platelet defect
- Rare coagulopathy due to a quantitative platelet defect
- Rare coagulopathy due to a thrombopathy and/or thrombocytopenia
- Rare coagulopathy due to an acquired coagulation factor defect
- Rare coagulopathy due to an acquired platelet anomaly
- Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia
- Rare combined vascular malformation
- Rare congenital anomaly of ventricular septum
- Rare congenital non-syndromic heart malformation
- Rare conjunctivitis
- Rare constitutional anemia
- Rare constitutional aplastic anemia
- Rare constitutional hemolytic anemia
- Rare constitutional hemolytic anemia due to a red cell membrane anomaly
- Rare constitutional hemolytic anemia due to an enzyme disorder
- Rare corneal disorder
- Rare CPP
- Rare CPP in female
- Rare cutaneous lichen planus
- Rare cutaneous LP
- Rare cutaneous lupus erythematosus
- Rare deafness
- Rare deficiency anemia
- Rare dementia
- Rare developmental defect during embryogenesis
- Rare developmental defect with connective tissue involvement
- Rare developmental defect with skin/mucosae involvement
- Rare diabetes mellitus
- Rare diabetes mellitus type 1
- Rare diabetes mellitus type 2
- Rare digestive cancer
- Rare digestive neoplasm
- Rare digestive tumor
- Rare disease involving intestinal motility
- Rare disease with adrenal Cushing syndrome as a major feature
- Rare disease with autism
- Rare disease with dentinogenesis imperfecta
- Rare disease with glaucoma as a major feature
- Rare disease with malignant hyperthermia
- Rare disease with myoclonus as a major feature
- Rare disease with odontological manifestation
- Rare disease with Pierre Robin syndrome
- Rare disease with thoracic aortic aneurysm and aortic dissection
- Rare disorder due to impaired sperm transport
- Rare disorder due to inadequate sharing of the placenta
- Rare disorder due to poisoning
- Rare disorder due to toxic effects
- Rare disorder due to unbalanced inter-twin blood transfusion
- Rare disorder involving multiple structures of the eye
- Rare disorder of the anterior segment of the eye
- Rare disorder of the lacrimal apparatus
- Rare disorder of the ocular adnexa
- Rare disorder of the posterior segment of the eye
- Rare disorder of the pupil
- Rare disorder of the visual organs
- Rare disorder potentially indicated for bowel transplant
- Rare disorder potentially indicated for heart transplant
- Rare disorder potentially indicated for hematopoietic stem cell transplant
- Rare disorder potentially indicated for kidney transplant
- Rare disorder potentially indicated for liver transplant
- Rare disorder potentially indicated for lung transplant
- Rare disorder potentially indicated for transplant
- Rare disorder potentially indicated for transplant or complication after transplantation
- Rare disorder related to monochorionic twin pregnancy
- Rare disorder related with pregnancy, childbirth and puerperium
- Rare disorder with a moyamoya angiopathy
- Rare disorder with conjunctival involvement as a major feature
- Rare disorder with corneal involvement as a major feature
- Rare disorder with dystonia and other neurologic or systemic manifestation
- Rare disorder with ectropion
- Rare disorder with entropion
- Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
- Rare disorder with Hirschsprung disease as a major feature
- Rare disorder with hypergonadotropic hypogonadism
- Rare disorder with hypertrichosis
- Rare disorder with lens opacification
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
- Rare disorder with obstructive azoospermia
- Rare disorder with optic disc malformation
- Rare disorder with pigmented sclera
- Rare disorder with primary hypogonadism
- Rare disorder with ptosis
- Rare disorder with strabismus
- Rare disorder without a determined diagnosis after full investigation
- Rare dyslipidemia
- Rare dystonia
- Rare dystonic disorder
- Rare endocrine disease
- Rare endocrine growth disease
- Rare epilepsy
- Rare epithelial tumor of colon
- Rare epithelial tumor of pancreas
- Rare epithelial tumor of rectum
- Rare epithelial tumor of small bowel
- Rare epithelial tumor of small intestine
- Rare epithelial tumor of stomach
- Rare eye tumor
- Rare eyebrow/eyelash disorder
- Rare eyebrow/eyelashes anomaly
- Rare eyelid malposition disorder
- Rare familial disorder with hypertrophic cardiomyopathy
- Rare familial disorder with hypertrophic obstructive cardiomyopathy
- Rare familial disorder with hypertrophic subaortic stenosis
- Rare female infertility
- Rare female infertility due to a congenital hypogonadotropic hypogonadism
- Rare female infertility due to adrenal disorder of genetic origin
- Rare female infertility due to an adrenal disorder
- Rare female infertility due to an anomaly of ovarian function
- Rare female infertility due to an anomaly of ovarian function of genetic origin
- Rare female infertility due to an implantation defect
- Rare female infertility due to gonadal dysgenesis
- Rare female infertility due to gonadotropic axis disorder
- Rare female infertility due to gonadotropic axis disorder of genetic origin
- Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
- Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
- Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder
- Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
- Rare female infertility due to oocyte maturation defect
- Rare female infertility due to ovarian dysgenesis
- Rare form of salmonellosis
- Rare gastric carcinoma
- Rare gastric epithelial tumor
- Rare gastroenterologic disease
- Rare gastroesophageal disease
- Rare gastroesophageal tumor
- Rare genetic adrenal disease
- Rare genetic autonomic nervous system disorder
- Rare genetic bone development disorder
- Rare genetic bone disease
- Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
- Rare genetic capillary malformation
- Rare genetic cardiac disease
- Rare genetic cause of hypertension
- Rare genetic choroidal disorder
- Rare genetic coagulation disorder
- Rare genetic corneal disorder
- Rare genetic deafness
- Rare genetic developmental defect during embryogenesis
- Rare genetic diabetes mellitus
- Rare genetic disease
- Rare genetic disease with myoclonus as a major feature
- Rare genetic disorder due to impaired sperm transport
- Rare genetic disorder involving multiple structures of the eye
- Rare genetic disorder of the anterior segment of the eye
- Rare genetic disorder of the lacrimal apparatus
- Rare genetic disorder of the ocular adnexa
- Rare genetic disorder of the posterior segment of the eye
- Rare genetic disorder of the pupil
- Rare genetic disorder of the visual organs
- Rare genetic disorder with conjunctival involvement as a major feature
- Rare genetic disorder with corneal involvement as a major feature
- Rare genetic disorder with entropion
- Rare genetic disorder with lens opacification
- Rare genetic disorder with obstructive azoospermia
- Rare genetic disorder with strabismus
- Rare genetic dystonia
- Rare genetic dystonic disorder
- Rare genetic endocrine disease
- Rare genetic epilepsy
- Rare genetic eye disease
- Rare genetic eyelid malposition disorder
- Rare genetic female infertility
- Rare genetic gastroenterological disease
- Rare genetic gynecological and obstetrical diseases
- Rare genetic headache
- Rare genetic hearing loss
- Rare genetic hematologic disease
- Rare genetic hepatic disease
- Rare genetic hyperkinetic movement disorder
- Rare genetic hypokinetic movement disorder
- Rare genetic hypothalamic or pituitary disease
- Rare genetic immune disease
- Rare genetic inflammatory/autoimmune corneal disorder
- Rare genetic intellectual disability
- Rare genetic macular disorder
- Rare genetic male infertility
- Rare genetic medullar disease
- Rare genetic movement disorder
- Rare genetic myoclonus
- Rare genetic neurological disorder
- Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
- Rare genetic nevus
- Rare genetic ocular motility/alignment disorder
- Rare genetic odontal or periodontal disorder
- Rare genetic odontologic disease
- Rare genetic ophthalmic disorder with cortical involvement
- Rare genetic ophthalmic disorder with cranial nerve involvement
- Rare genetic ophthalmologic disease
- Rare genetic optic nerve disorder
- Rare genetic palpebral disorder
- Rare genetic parathyroid disease and phosphocalcic metabolism disorder
- Rare genetic parkinsonian disorder
- Rare genetic premature ovarian failure
- Rare genetic renal disease
- Rare genetic respiratory disease
- Rare genetic retinal disorder
- Rare genetic retinal vasculopathy
- Rare genetic skeletal development disorder
- Rare genetic skin disease
- Rare genetic syndromic intellectual disability
- Rare genetic systemic or rheumatologic disease
- Rare genetic thyroid disease
- Rare genetic tremor disorder
- Rare genetic tumor
- Rare genetic urogenital disease
- Rare genetic vascular disease
- Rare genetic vascular tumor
- Rare genetic venous malformation
- Rare genodermatosis
- Rare gynaecological cancer
- Rare gynaecological neoplasm
- Rare gynecologic or obstetric disease
- Rare gynecological tumor
- Rare head and neck malformation
- Rare head and neck tumor
- Rare headache
- Rare hearing loss
- Rare hematologic disease
- Rare hemolytic anemia
- Rare hemorrhagic disorder
- Rare hemorrhagic disorder due to a coagulation factors defect
- Rare hemorrhagic disorder due to a constitutional coagulation factors defect
- Rare hemorrhagic disorder due to a constitutional platelet anomaly
- Rare hemorrhagic disorder due to a constitutional thrombocytopenia
- Rare hemorrhagic disorder due to a constitutional thrombopathy
- Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia
- Rare hemorrhagic disorder due to a platelet anomaly
- Rare hemorrhagic disorder due to a qualitative platelet defect
- Rare hemorrhagic disorder due to a quantitative platelet defect
- Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia
- Rare hemorrhagic disorder due to an acquired coagulation factor defect
- Rare hemorrhagic disorder due to an acquired platelet anomaly
- Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia
- Rare hepatic and biliary tract tumor
- Rare hepatic disease
- Rare hereditary autoinflammatory disease
- Rare hereditary connective tissue disease
- Rare hereditary disease with avascular necrosis
- Rare hereditary disease with peripheral neuropathy
- Rare hereditary hemochromatosis
- Rare hereditary metabolic disease with peripheral neuropathy
- Rare hereditary neurologic disease with peripheral neuropathy
- Rare hereditary systemic disease with peripheral neuropathy
- Rare hereditary thrombophilia
- Rare hypercholesterolemia
- Rare hyperkinetic movement disorder
- Rare hyperlipidemia
- Rare hyperopia and astigmatism
- Rare hyperparathyroidism
- Rare hyperthyroidism
- Rare hypertrophic cardiomyopathy
- Rare hypoaldosteronism
- Rare hypokinetic movement disorder
- Rare hypolipidemia
- Rare hypoparathyroidism
- Rare hypothalamic or pituitary disease
- Rare hypothyroidism
- Rare idiopathic macular telangiectasia
- Rare immune disease
- Rare inborn errors of metabolism
- Rare infantile hemangioma
- Rare infectious disease
- Rare infertility
- Rare inflammatory bowel disease
- Rare inflammatory/autoimmune corneal disorder
- Rare insulin-dependent diabetes mellitus
- Rare insulin-independent diabetes mellitus
- Rare insulin-resistance syndrome
- Rare intellectual disability
- Rare intestinal disease
- Rare intestinal tumor
- Rare intoxication due to medical products
- Rare isolated myopia
- Rare lacrimal system disease
- Rare lens disease
- Rare lichen planus
- Rare LP
- Rare lymphatic malformation
- Rare lymphatic system anomaly
- Rare macular disorder
- Rare male infertility
- Rare male infertility due to adrenal disorder
- Rare male infertility due to adrenal disorder of genetic origin
- Rare male infertility due to gonadotropic axis disorder
- Rare male infertility due to gonadotropic axis disorder of genetic origin
- Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
- Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
- Rare male infertility due to hypothalamic-pituitary-testicular axis disorder
- Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
- Rare male infertility due to testicular endocrine disorder
- Rare malignant breast tumor
- Rare malignant epithelial tumor of liver and IBT
- Rare malignant epithelial tumor of liver and intrahepatic biliary tract
- Rare malignant tumor of cervix uteri
- Rare malignant tumor of corpus uteri
- Rare malignant tumor of uterus
- Rare maxillo-facial surgical disease
- Rare maxillofacial anomaly
- Rare mesenchymal tumor
- Rare metabolic disease
- Rare metabolic liver disease
- Rare mitochondrial non-syndromic sensorineural deafness
- Rare movement disorder
- Rare mucosal lichen planus
- Rare mucosal LP
- Rare mycosis
- Rare myoclonus
- Rare nail tumor
- Rare neoplasm
- Rare neoplastic disease
- Rare nervous system disease
- Rare nervous system neoplasm
- Rare nervous system tumor
- Rare neurodegenerative disease
- Rare neuroinflammatory or neuroimmunological disease
- Rare neurologic disease
- Rare neurologic disease with psychiatric involvement
- Rare neuromuscular disorder with ocular motility/alignment anomaly
- Rare nevus
- Rare non surgically correctable form of primary aldosteronism
- Rare non-acquired premature ovarian failure
- Rare non-malformative breast disease
- Rare non-malformative gynecologic or obstetric disease
- Rare non-malformative uterine adnexal disease
- Rare non-malformative uterovaginal or vulvovaginal disease
- Rare non-syndromic intellectual disability
- Rare NSID
- Rare ocular motility/alignment disorder
- Rare oculomotor nerve disorder
- Rare odontal or periodontal disorder
- Rare odontogenic tumor
- Rare odontologic disease
- Rare ophthalmic disorder
- Rare ophthalmic disorder with cortical involvement
- Rare ophthalmic disorder with cranial nerve involvement
- Rare optic nerve disorder
- Rare ORL cancer
- Rare ORL neoplasm
- Rare ORL tumor
- Rare otorhinolaryngologic disease
- Rare otorhinolaryngologic tumor
- Rare otorhinolaryngological malformation
- Rare ovarian cancer
- Rare ovarian malignant tumor
- Rare palpebral disorder
- Rare pancreatic carcinoma
- Rare pancreatic disease
- Rare pancreatic epithelial tumor
- Rare pancreatic tumor
- Rare parasitic disease
- Rare parathyroid disease and phosphocalcic metabolism anomaly
- Rare parathyroid tumor
- Rare parenchymal liver disease
- Rare parkinsonian disorder
- Rare parkinsonian syndrome due to genetic neurodegenerative disease
- Rare parkinsonian syndrome due to intoxication
- Rare parkinsonian syndrome due to neurodegenerative disease
- Rare paroxysmal movement disorder
- Rare PDD
- Rare pediatric rheumatologic disease
- Rare pediatric systemic disease
- Rare pediatric vasculitis
- Rare peripheral neuropathy
- Rare peripheral precocious puberty
- Rare peripheral precocious puberty in female
- Rare pervasive developmental disorder
- Rare photodermatosis
- Rare precocious puberty
- Rare precocious puberty in female
- Rare primary aldosteronism
- Rare primary hyperaldosteronism
- Rare pulmonary disease
- Rare pulmonary hypertension
- Rare rectal epithelial tumor
- Rare refraction anomaly
- Rare renal disease
- Rare renal tubular disease
- Rare renal tumor
- Rare respiratory allergy
- Rare respiratory cancer
- Rare respiratory disease
- Rare respiratory neoplasm
- Rare respiratory tumor
- Rare retinal disorder
- Rare retinal vasculopathy
- Rare rheumatologic disease
- Rare scleral disorder
- Rare scleritis
- Rare skeletal development disorder
- Rare skin disease
- Rare skin photosensitivity
- Rare skin tumor or hamartoma
- Rare sleep disorder
- Rare soft tissue tumor
- Rare surgical cardiac disease
- Rare surgical thoracic disease
- Rare surgically correctable form of primary aldosteronism
- Rare syndrome with cardiac malformations
- Rare syndromic dyslipidemia
- Rare syndromic intellectual disability
- Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
- Rare systemic disease
- Rare systemic or rheumatologic disease
- Rare systemic or rheumatological disease of childhood
- Rare teratologic disease
- Rare thrombotic disease of hematologic origin
- Rare thrombotic disorder due to a coagulation factors defect
- Rare thrombotic disorder due to a constitutional coagulation factors defect
- Rare thrombotic disorder due to a constitutional platelet anomaly
- Rare thrombotic disorder due to a platelet anomaly
- Rare thrombotic disorder due to an acquired coagulation factors defect
- Rare thrombotic disorder due to an acquired platelet anomaly
- Rare thyroid carcinoma
- Rare thyroid disease
- Rare thyroid tumor
- Rare tremor disorder
- Rare trochlear nerve disorder
- Rare tumor
- Rare tumor of bowel
- Rare tumor of cranial and spinal nerves
- Rare tumor of gallbladder and EBT
- Rare tumor of gallbladder and extrahepatic biliary tract
- Rare tumor of intestine
- Rare tumor of liver and IBT
- Rare tumor of liver and intrahepatic biliary tract
- Rare tumor of neuroepithelial tissue
- Rare tumor of pancreas
- Rare tumor of salivary glands
- Rare tumor of small bowel
- Rare tumor of small intestine
- Rare tumoral disease
- Rare urinary tract cancer
- Rare urinary tract neoplasm
- Rare urinary tract tumor
- Rare urogenital disease
- Rare urogenital tumor
- Rare urticaria
- Rare uterine adnexal tumor
- Rare uterine cancer
- Rare uterine malignant tumor
- Rare vaginal malformation
- Rare vascular anomaly
- Rare vascular disease
- Rare vascular liver disease
- Rare vascular malformation of major vessels
- Rare vascular tumor
- Rare venous malformation
- Rare viral disease
- Rare virus associated tumor
- Rare vulvovaginal tumor
- Rare X-linked non-syndromic sensorineural deafness type DFN
- Rare yersiniosis
- RARS
- RARS-related autosomal recessive hypomyelinating leukodystrophy
- RAS-associated autoimmune leukoproliferative disease
- RASA1-related capillary malformation-arteriovenous malformation
- Rasmussen subacute encephalitis
- Rasmussen syndrome
- Rasmussen-Johnsen-Thomsen syndrome
- RASopathy
- Rat-bite fever
- Rathbun disease
- Rauch-Steindl syndrome
- Ravine syndrome
- rAVM
- Ray-Peterson-Scott syndrome
- Raynaud-Claes syndrome
- RB-ILD
- RBCD
- RC11
- RCAD syndrome
- RCC
- RCDP
- RCVS
- RDEB generalisata gravis
- RDEB inversa
- RDEB, Hallopeau-Siemens type
- RDEB, non-Hallopeau-Siemens type
- RDEB-I
- Reactive amyloidosis
- Reactive angioendotheliomatosis
- Reactive arthritis
- Reactive hemophagocytic syndrome
- Reactive hypereosinophilic syndrome
- Reactive papillary endothelial hyperplasia
- REAR syndrome
- Reardon-Baraitser syndrome
- Reardon-Hall-Slaney syndrome
- Rec(8) syndrome
- Rec8 syndrome
- Recessive dystrophic epidermolysis bullosa inversa
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- Recessive KLHL7-related disorder
- Recessive mitochondrial ataxia syndrome
- Recessive X-linked ichthyosis
- Recessive X-linked ichthyosis with extracutaneous manifestations
- Recombinant 8 syndrome
- Recombinant chromosome 8 syndrome
- Recrudescent typhus
- Rectal NET
- Rectal neuroendocrine tumor
- Rectal squamous cell carcinoma
- Rectus abdominis syndrome
- Recurrent acute necrotizing encephalopathy
- Recurrent encephalophathy of childhood
- Recurrent hepatitis C virus induced liver disease in liver transplant recipients
- Recurrent hereditary corneal erosions
- Recurrent idiopathic neuroretinitis
- Recurrent infections associated with rare immunoglobulin isotypes deficiency
- Recurrent infections due to specific granule deficiency
- Recurrent intrahepatic cholestasis of pregnancy
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Recurrent Neisseria infections due to factor D deficiency
- Recurrent respiratory papillomatosis
- Recurring digital fibrous tumor of childhood
- Red oculocutaneous albinism
- Red palms disease
- Reducing body myopathy
- Reed syndrome
- Reflex epilepsy
- Reflex sympathetic dystrophy
- Refractory anemia
- Refractory anemia with excess blasts
- Refractory anemia with excess blasts in transformation
- Refractory anemia with excess blasts type 1
- Refractory anemia with excess blasts type 2
- Refractory anemia with ringed sideroblasts
- Refractory CD
- Refractory celiac disease
- Refractory cytopenia with multilineage dysplasia
- Refractory sprue
- Refsum disease
- Reginato-Schiapachasse syndrome
- Regional choroidal atrophy and alopecia
- Regional odontodysplasia
- Regional variant of GBS
- Regional variant of Guillain-Barré syndrome
- Regressive atypical histiocytosis
- Regressive metaphyseal dysplasia
- Regressive spondylometaphyseal dysplasia
- Reinhardt-Pfeiffer mesomelic dysplasia
- Reinhardt-Pfeiffer syndrome
- Reis-Bücklers corneal dystrophy
- RELA fusion-positive ependymoma
- RELA-associated inflammatory disease
- Relapsing epidemic typhus
- Relapsing febrile nodular nonsuppurative panniculitis
- Relapsing febrile nodular panniculitis
- Relapsing fever
- Relapsing isolated optic neuritis
- Relapsing polychondritis
- Remnant hyperlipoproteinemia
- REN-associated familial juvenile hyperuricemic nephropathy
- REN-associated FJHN
- REN-associated kidney disease
- REN-related autosomal dominant tubulointerstitial kidney disease
- Renal agenesis
- Renal agenesis, bilateral
- Renal agenesis, unilateral
- Renal arteriovenous malformation
- Renal artery fibromuscular dysplasia
- Renal caliceal diverticuli-deafness syndrome
- Renal caliceal diverticuli-hearing loss syndrome
- Renal cell carcinoma
- Renal ciliopathy
- Renal coloboma syndrome
- Renal cysts and diabetes syndrome
- Renal disease with cataract
- Renal dysfunction-early-onset diabetes syndrome
- Renal dysplasia
- Renal dysplasia, bilateral
- Renal dysplasia, unilateral
- Renal dysplasia-limb defects syndrome
- Renal dysplasia-mesomelia-radiohumeral fusion syndrome
- Renal dysplasia-retinal aplasia syndrome
- Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
- Renal embryonic tumor
- Renal Fanconi syndrome with nephrocalcinosis and renal stones
- Renal FMD
- Renal hypomagnesemia type 2
- Renal hypomagnesemia type 3
- Renal hypoplasia
- Renal hypoplasia, bilateral
- Renal hypoplasia, unilateral
- Renal medullary carcinoma
- Renal nutcracker syndrome
- Renal or urinary tract malformation
- Renal PHA1
- Renal pseudohypoaldosteronism type 1
- Renal tubular acidosis type 1
- Renal tubular acidosis type 2
- Renal tubular acidosis type 3
- Renal tubular dysgenesis
- Renal tubular dysgenesis due to twin-twin transfusion
- Renal tubular dysgenesis of genetic origin
- Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
- Renal tubulopathy-encephalopathy-liver failure syndrome
- Renal-ear-anal-radial syndrome
- Renal-hepatic-pancreatic dysplasia
- Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
- Rendu-Osler disease
- Rendu-Osler-Weber disease
- Renin-angiotensin-aldosterone system-blocker-induced angioedema
- Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
- Renohepaticopancreatic dysplasia
- Renotubular dysgenesis
- Renpenning syndrome
- ReNU syndrome
- RERE-related neurodevelopmental syndrome
- Resistance to IGF-1
- Resistance to thyroid hormone alpha
- Resistance to thyroid hormone beta
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
- Resistance to thyroid hormone due to a mutation in TRa
- Resistance to thyroid hormone due to a mutation in TRb
- Resistance to thyroid stimulating hormone
- Resistance to thyrotropin-releasing hormone syndrome
- Respiratory anthrax
- Respiratory anthrax disease
- Respiratory bronchiolitis-interstitial lung disease syndrome
- Respiratory malformation
- Respiratory or mediastinal malformation
- Respiratory or thoracic malformation
- Restrictive cardiomyopathy
- Restrictive dermopathy
- Retained medullary cord
- Reticular dysgenesis
- Reticular dysgenesis-like SCID
- Reticular dysgenesis-like severe combined immunodeficiency
- Reticular dystrophy of the retinal pigment epithelium
- Reticular perineurioma
- Reticular pigment anomaly of flexures
- Reticulate acropigmentation of Kitamura
- Reticulum cell sarcoma
- Retiform hemangioendothelioma
- Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
- Retinal arteriolar tortuosity
- Retinal capillary malformation
- Retinal cavernous hemangioma
- Retinal ciliopathy
- Retinal ciliopathy due to mutation in Bardet-Biedl gene
- Retinal ciliopathy due to mutation in nephronophthisis gene
- Retinal ciliopathy due to mutation in RP1 gene
- Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
- Retinal ciliopathy due to mutation in the RPGR gene
- Retinal ciliopathy due to mutation in the RPGRIP gene
- Retinal ciliopathy due to mutation in Usher gene
- Retinal degeneration-nanophthalmos-glaucoma syndrome
- Retinal detachment-occipital encephalocele syndrome
- Retinal dystrophy
- Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
- Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
- Retinal dystrophy-juvenile cataract-short stature syndrome
- Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
- Retinal hemorrhage with vascular tortuosity
- Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
- Retinal macular dystrophy type 2
- Retinal vasculopathy and cerebral leukoencephalopathy
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Retinal vasoproliferative tumor
- Retinitis pigmentosa
- Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)
- Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
- Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
- Retinitis pigmentosa-deafness syndrome
- Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome
- Retinitis pigmentosa-hearing loss syndrome
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
- Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- Retinitis punctata albescens
- Retinoblastoma
- Retinocochleocerebral vasculopathy
- Retinoic acid embryopathy
- Retinoid embryopathy
- Retinoids embryopathy
- Retinol dystrophy-iris coloboma-comedogenic acne syndrome
- Retinopathy of prematurity
- Retinopathy, Burgess-Black type
- Retinopathy-anemia-central nervous system anomalies syndrome
- Retinoschisis with early nyctalopia
- Retrolental fibroplasia
- Rett syndrome
- Rett syndrome variant
- Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
- Reversible cerebral vasoconstriction syndrome
- Reversible infantile cytochrome C oxidase deficiency
- Reversible infantile respiratory chain deficiency
- Revesz syndrome
- Revesz-DeBuse syndrome
- Reye syndrome
- Reye tumor
- Reynolds syndrome
- RFT1-CDG
- RFVT2-related riboflavin transporter deficiency
- RFVT3-related riboflavin transporter deficiency
- RGNT
- Rh deficiency syndrome
- Rh-null syndrome
- Rhabdoid tumor
- Rhabdoid tumor predisposition syndrome
- Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
- Rhabdomyosarcoma
- Rhabdomyosarcoma of the cervix uteri
- Rhabdomyosarcoma of the corpus uteri
- Rheumatic fever
- Rheumatoid factor-negative polyarticular JIA
- Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- Rheumatoid factor-positive polyarticular JIA
- Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
- Rheumatoid purpura
- Rhizomelic chondrodysplasia punctata
- Rhizomelic chondrodysplasia punctata type 1
- Rhizomelic chondrodysplasia punctata type 2
- Rhizomelic chondrodysplasia punctata type 3
- Rhizomelic chondrodysplasia punctata type 5
- Rhizomelic dysplasia, Patterson-Lowry type
- Rhizomelic shortness with clavicular defect
- Rhizomelic syndrome, Urbach type
- RHOA-related mosaic ectodermal dysplasia
- Rhombencephalosynapsis
- RHYNS syndrome
- RI-CMT
- RI-CMT type A
- RI-CMT type B
- RI-CMT type C
- RI-CMT type D
- Riboflavin transporter deficiency
- Riboflavin transporter deficiency 2
- Riboflavin transporter deficiency 3
- Ribose-5-P isomerase deficiency
- RICH
- Richards-Rundle syndrome
- Richardson syndrome
- Richardson-Kirk syndrome
- Richieri Costa-da Silva syndrome
- Richieri Costa-Guion Almeida-Ramos syndrome
- Richieri Costa-Pereira syndrome
- Richieri-Costa-Colletto syndrome
- Richieri-Costa-Gorlin syndrome
- Richner-Hanhart syndrome
- Ricin poisoning
- Ricker disease
- Ricker syndrome
- Rickettsiae disease
- Rickettsial disease
- Rickettsialpox
- RIDDLE syndrome
- Riedel disease
- Riedel thyroiditis
- Rieger anomaly
- Rieger anomaly-partial lipodystrophy syndrome
- Rieger syndrome
- Rift valley fever
- Right aortic arch
- Right coronary artery from left aortic sinus
- Right inferior caval vein connecting to left-sided atrium
- Right inferior vena cava connecting to left-sided atrium
- Right IVC connecting to left-sided atrium
- Right sided atrial isomerism
- Right superior caval vein connecting to left-sided atrium
- Right superior vena cava connecting to left-sided atrium
- Right SVC connecting to left-sided atrium
- Rigid spine congenital muscular dystrophy
- Rigid spine syndrome
- Riley-Day syndrome
- RIN2 deficiency
- RIN2 syndrome
- Ring 1
- Ring 10
- Ring 11
- Ring 12
- Ring 13
- Ring 14
- Ring 15
- Ring 16
- Ring 17
- Ring 18
- Ring 19
- Ring 2
- Ring 20
- Ring 22
- Ring 3
- Ring 4
- Ring 5
- Ring 6
- Ring 7
- Ring 8
- Ring 9
- Ring chromosome 1
- Ring chromosome 1 syndrome
- Ring chromosome 10
- Ring chromosome 10 syndrome
- Ring chromosome 11
- Ring chromosome 11 syndrome
- Ring chromosome 12
- Ring chromosome 12 syndrome
- Ring chromosome 13
- Ring chromosome 13 syndrome
- Ring chromosome 14
- Ring chromosome 14 syndrome
- Ring chromosome 15
- Ring chromosome 15 syndrome
- Ring chromosome 16
- Ring chromosome 16 syndrome
- Ring chromosome 17
- Ring chromosome 17 syndrome
- Ring chromosome 18
- Ring chromosome 18 syndrome
- Ring chromosome 19
- Ring chromosome 19 syndrome
- Ring chromosome 2
- Ring chromosome 2 syndrome
- Ring chromosome 20
- Ring chromosome 20 syndrome
- Ring chromosome 21 syndrome
- Ring chromosome 22
- Ring chromosome 22 syndrome
- Ring chromosome 3
- Ring chromosome 3 syndrome
- Ring chromosome 4
- Ring chromosome 4 syndrome
- Ring chromosome 5
- Ring chromosome 5 syndrome
- Ring chromosome 6
- Ring chromosome 6 syndrome
- Ring chromosome 7
- Ring chromosome 7 syndrome
- Ring chromosome 8
- Ring chromosome 8 syndrome
- Ring chromosome 9
- Ring chromosome 9 syndrome
- Ring chromosome syndrome
- Ring chromosome Y
- Ring chromosome Y syndrome
- Ring dermoid of cornea
- Ring dermoid syndrome
- Ringed hair disease
- RINR
- RION
- Rippling muscle disease
- Rippling muscle disease with myasthenia gravis
- Ritscher-Schinzel syndrome
- Rivera-Perez-Salas syndrome
- rMED
- RNASEH2B-related hereditary spastic paraplegia
- RNF13-related severe early-onset epileptic encephalopathy
- RNF13-related severe EOEE
- RNF168 deficiency
- RNS
- RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome
- RNU4-2-related neurodevelopmental syndrome
- Roberts syndrome
- Roberts-SC phocomelia syndrome
- Robin sequence-oligodactyly syndrome
- Robinow dwarfism
- Robinow syndrome
- Robinow-Silverman-Smith syndrome
- Robinow-Unger syndrome
- Roch-Leri mesosomatous lipomatosis
- Rocky Mountain spotted fever
- Rod monochromacy
- Rod monochromatism
- Rogers syndrome
- ROHHAD
- ROHHADNET
- Roifman syndrome
- Roifman-Chitayat syndrome
- Rokitansky sequence
- Rokitansky syndrome
- Rolandic epilepsy
- Rolandic epilepsy exercise-induced dystonia
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
- Rolandic epilepsy-speech dyspraxia syndrome
- Romano-Ward long QT syndrome
- Romano-Ward syndrome
- Romberg syndrome
- Rombo syndrome
- ROP
- ROSAH syndrome
- Rosaï-Dorfman disease
- Rosaï-Dorfman-Destombes disease
- Rosenberg-Lohr syndrome
- Rosenthal factor deficiency
- Rosenthal syndrome
- Rosette-forming glioneuronal tumor
- Rothmund-Thomson syndrome
- Rothmund-Thomson syndrome type 1
- Rothmund-Thomson syndrome type 2
- Rotor syndrome
- Round-headed sperm syndrome
- Roussy-Lévy syndrome
- Rowell syndrome
- Rozin camptodactyly syndrome
- RPA
- RRH
- RRS
- RSH syndrome
- RTD2
- RTD3
- RTHa
- RTHb
- RTPS
- RTS
- RTS1
- RTS2
- Rubella panencephalitis
- Rubinstein-Taybi syndrome
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Rudd-Klimek syndrome
- Rufous oculocutaneous albinism
- Ruijs-Aalfs syndrome
- RUNX1 familial platelet disorder
- RUNX1 familial platelet disorder with associated myeloid malignancies
- RUNX1-FPD
- RUNX1-FPDMM
- Russell diencephalic cachexia
- Russell syndrome
- Russell-Weaver-Bull syndrome
- Rutherfurd syndrome
- Ruvalcaba syndrome
- RVCL
- RVCL-S
- RXLI