W
Waaler-Aarskog syndrome
Waardenburg anophthalmia syndrome
Waardenburg-Hirschsprung syndrome
Waardenburg-Jonker corneal dystrophy
Waardenburg-Shah syndrome
Waardenburg syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 2 with ocular albinism
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Waardenburg syndrome type I
Waardenburg syndrome type II
Waardenburg syndrome type III
Waardenburg syndrome with limb anomalies
WABS
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Wagenmann-Froboese syndrome
Wagner disease
Wagner syndrome
WAGR syndrome
wAHA
Wahab syndrome
wAIHA
Waisman syndrome
Waldenström macroglobulinemia
Waldmann disease
Walker-Dyson syndrome
Walker-Warburg syndrome
Wallis-Zieff-Goldblatt syndrome
WARBM
Warburg micro syndrome
Warburg-Thomsen syndrome
Warburton-Anyane-Yeboa syndrome
Warfarin embryofetopathy
Warfarin embryopathy
Warkany syndrome
Warm AIHA
Warman-Mulliken-Hayward syndrome
Warsaw breakage syndrome
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
Warty dyskeratoma
WAS
Waterhouse-Friderichsen syndrome
Water-West syndrome
Watery diarrhea-hypokalemia-achlorhydria syndrome
WCD
WDFA
WDHA syndrome
WDLS
WDM
Weary syndrome
Weaver syndrome
Weaver-Williams syndrome
Weber-Christian disease
Weber-Christian panniculitis
Webster-Deming syndrome
Weidman juvenile elastoma
Weill-Marchesani syndrome
Weismann-Netter-Stuhl syndrome
Weismann-Netter syndrome
Weissenbacher- Zweymuller syndrome
Well-differentiated fetal adenocarcinoma of the lung
Well-differentiated liposarcoma
Well-differentiated NEN of pancreas
Well-differentiated neuroendocrine neoplasm of pancreas
Well-differentiated neuroendocrine neoplasm of the endometrium
Well-differentiated neuroendocrine tumor of the corpus uteri
Well-differentiated neuroendocrine tumor of the endometrium
Well-differentiated pancreatic NEN
Well-differentiated pancreatic neuroendocrine neoplasm
Well-differentiated thymic neuroendocrine carcinoma
Well-differentiated thyroid carcinoma
Wellesley-Carman-French syndrome
Wells-Jankovic syndrome
Wells syndrome
Werdnig-Hoffmann disease
Wermer syndrome
Werner-like syndrome due to combined growth factor deficiency
Werner mesomelic syndrome
Werner syndrome
Westerhof-Beemer-Cormane syndrome
Western equine encephalitis
Western equine encephalomyelitis
West-Nile encephalitis
West-Nile fever
Westphall disease
West syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
WHIM syndrome
Whipple disease
Whistling face syndrome
White fibrous papulosis of the neck
White forelock with malformations
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White platelet syndrome
White sponge nevus
White sponge nevus of Cannon
White-Sutton syndrome
Whooping cough
Whyte-Murphy syndrome
Wieacker-Wolff syndrome
Wiedemann-Beckwith syndrome
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Wildervanck syndrome
Wild type ABeta2M amyloidosis
Wild type ABeta2-microglobulinic amyloidosis
Wild type ATTR amyloidosis
Wild type ATTR-related amyloidosis
Williams-Beuren syndrome
Williams-Campbell syndrome
Williams syndrome
WILM
Wilms tumor
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
Wilms tumor-disorder of sex development syndrome
Wilms tumor-DSD syndrome
Wilson disease
Wilson-Turner syndrome
Winged helix deficiency
Winkelmann cytophagic panniculitis
Winship-Viljoen-Leary syndrome
Wiskott-Aldrich syndrome
Wissler-Fanconi syndrome
Witkop syndrome
Witschel dystrophy
WL syndrome
WNS
WNT4 deficiency
Wolcott-Rallison syndrome
Wolff-Zimmermann syndrome
Wolf-Hirschhorn syndrome
Wolfram-like syndrome
Wolfram syndrome
Wolman disease
Woodhouse-Sakati syndrome
Woods-Black-Norbury syndrome
Woolly hair
Woolly hair nevus
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar hyperkeratosis syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar keratoderma syndrome
Wooly hair
Wooly hair nevus
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Worster-Drought syndrome
Worth syndrome
Wound botulism
Wound myiasis
Wrinkled skin syndrome
Wrinkly skin syndrome
WRS
WS
WS1
WS2
WS3
WS4
WS4 plus
WSS
W syndrome
WT limb-blood syndrome
WTS
Wunderlich syndrome
WWS
Wyburn-Mason syndrome
R
r(11) syndrome
r(1) syndrome
r(22) syndrome
r(4) syndrome
r(8) syndrome
RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
Rabies
Rabson-Mendenhall syndrome
R-ACAOS
RAD50 deficiency
Radial clubhand
Radial deficiency-tibial hypoplasia syndrome
Radial hemimelia
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Radial longitidinal meromelia
Radial ray agenesis
Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Radial ray hypoplasia-choanal atresia syndrome
Radiation-induced disorder
Radiation-induced plexopathy
Radiation myelitis
Radiation proctitis
Radicular dentin dysplasia
Radio-renal syndrome
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Radioulnar fusion
Radio-ulnar fusion, bilateral
Radio-ulnar fusion, unilateral
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Radio-ulnar synostosis, bilateral
Radioulnar synostosis-developmental delay-hypotonia syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Radio-ulnar synostosis, unilateral
Radio-ulnar terminal transverse meromelia
RAE
RAEB
RAEB-1
RAEB-2
RAEB-t
RAI
Raine syndrome
Rajab-Spranger syndrome
RAK
RALD
Raltegravir toxicity
Rambam-Hasharon syndrome
Rambaud-Gallian syndrome
Rambaud-Gallian-Touchard syndrome
Ramon syndrome
Ramos-Arroyo syndrome
Ramsay Hunt syndrome
Randall disease
RAPADILINO syndrome
Rapidly involuting congenital hemangioma
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Rapid-onset dystonia-parkinsonism
Rare abdominal surgical disease
Rare acquired aplastic anemia
Rare acquired deficiency anemia
Rare acquired hemolytic anemia
Rare adenocarcinoma of the breast
Rare adrenal disease
Rare adult hypothyroidism
Rare allergic disease
Rare allergic respiratory disease
Rare allergy
Rare anemia
Rare arteriovenous malformation
Rare ASD
Rare ataxia
Rare atrial defect and interatrial communication
Rare autism spectrum disorder
Rare autonomic nervous system disorder
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 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 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 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 tumor
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 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
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 an acquired coagulation factor defect
Rare coagulopathy due to an acquired platelet anomaly
Rare coagulopathy due to an acquired 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 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 an enzyme disorder
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Rare corneal disorder
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 autism
Rare disease with Cushing syndrome as a major feature
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 poisoning
Rare disorder due to toxic effects
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 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 hypogonadotropic hypogonadism
Rare disorder with lens opacification
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 secondary hypogonadism
Rare disorder with strabismus
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 eyebrow/eyelash disorder
Rare eyebrow/eyelashes anomaly
Rare eyelid malposition disorder
Rare eye tumor
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 conjunctivitis
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 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 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 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 gynecological tumor
Rare gynecologic or obstetric disease
Rare headache
Rare head and neck malformation
Rare head and neck tumor
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 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 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 hepatic and biliary tract tumor
Rare hepatic disease
Rare hereditary ataxia
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 hypoaldosteronism
Rare hypokinetic movement disorder
Rare hypolipidemia
Rare hypoparathyroidism
Rare hypothalamic or pituitary disease
Rare hypothyroidism
Rare idiopathic macular telangiectasia
Rare idiopathic male infertility
Rare immune disease
Rare inborn errors of metabolism
Rare infectious disease
Rare infertility
Rare inflammatory/autoimmune corneal disorder
Rare inflammatory bowel disease
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 malformation
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 maxillofacial anomaly
Rare maxillo-facial surgical disease
Rare mesenchymal tumor
Rare metabolic disease
Rare metabolic liver disease
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-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 surgically correctable form of primary aldosteronism
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 otorhinolaryngological malformation
Rare otorhinolaryngologic disease
Rare otorhinolaryngologic 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 pervasive developmental disorder
Rare photodermatosis
Rare precocious puberty
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 skeletal development disorder
Rare skin disease
Rare skin photosensitivity
Rare skin tumor or hamartoma
Rare sleep disorder
Rare soft tissue tumor
Rare sucking/swallowing disorder
Rare surgical cardiac disease
Rare surgically correctable form of primary aldosteronism
Rare surgical thoracic disease
Rare syndrome with cardiac malformations
Rare syndromic dyslipidemia
Rare syndromic intellectual disability
Rare systemic disease
Rare systemic or rheumatological disease of childhood
Rare systemic or rheumatologic disease
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 an acquired coagulation factors defect
Rare thrombotic disorder due to an acquired platelet anomaly
Rare thrombotic disorder due to a platelet anomaly
Rare thyroid disease
Rare tremor disorder
Rare trochlear nerve disorder
Rare tumor
Rare tumoral disease
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 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 variants of adenocarcinoma of the corpus uteri
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
RARS
RARS-related autosomal recessive hypomyelinating leukodystrophy
RAS-associated autoimmune leukoproliferative disease
Rasmussen-Johnsen-Thomsen syndrome
Rasmussen subacute encephalitis
Rasmussen syndrome
RASopathy
Rat-bite fever
Rathburn disease
Ravine syndrome
Ray-Peterson-Scott syndrome
RBCD
RB-ILD
RC11
RCAD syndrome
RCC
RCDP
RCVS
RDEB-Ce
RDEB, centripetalis
RDEB generalisata gravis
RDEB generalisata mitis
RDEB, generalized intermediate
RDEB-generalized other
RDEB, Hallopeau-Siemens type
RDEB-I
RDEB, non-Hallopeau-Siemens type
RDEB-O
RDEB-sev gen
Reactive amyloidosis
Reactive arthritis
Reactive hemophagocytic syndrome
Reactive hypereosinophilic syndrome
Reading seizures
Reardon-Baraitser syndrome
Reardon-Hall-Slaney syndrome
REAR syndrome
Rec8 syndrome
Rec(8) syndrome
Recessive dystrophic epidermolysis bullosa, generalized intermediate
Recessive dystrophic epidermolysis bullosa-generalized other
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
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 duplication
Rectal NET
Rectal neuroendocrine tumor
Rectal squamous cell carcinoma
Rectus abdominis syndrome
Recurrent acute necrotizing encephalopathy
Recurrent acute pancreatitis
Recurrent encephalophathy of childhood
Recurrent hepatitis C virus induced liver disease in liver transplant recipients
Recurrent hereditary corneal erosions
Recurrent idiopathic neuroretinitis
Recurrent infection due to specific granule deficiency
Recurrent infections associated with rare immunoglobulin isotypes 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 cell aplasia
RED-M
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
Reiter disease
Reiter syndrome
RELA fusion-positive ependymoma
Relapsing epidemic typhus
Relapsing febrile nodular nonsuppurative panniculitis
Relapsing febrile nodular panniculitis
Relapsing fever
Relapsing polychondritis
Remnant hyperlipoproteinemia
Renal agenesis
Renal agenesis, bilateral
Renal agenesis, unilateral
Renal caliceal diverticuli-deafness syndrome
Renal cell carcinoma
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-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 dysplasia, unilateral
Renal-ear-anal-radial syndrome
Renal embryonic tumor
Renal Fanconi syndrome with nephrocalcinosis and renal stones
Renal-hepatic-pancreatic dysplasia
Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
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 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
REN-associated familial juvenile hyperuricemic nephropathy
REN-associated FJHN
REN-associated kidney disease
Rendu-Osler disease
Rendu-Osler-Weber disease
Renier-Gabreels-Jasper syndrome
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
Renohepaticopancreatic dysplasia
Renotubular dysgenesis
Renpenning syndrome
REN-related autosomal dominant tubulointerstitial kidney disease
RERE-related neurodevelopmental syndrome
Resistance to bleomycine in the treatment of testicular cancer
Resistance to clopidogrel
Resistance to colchicine
Resistance to IGF-1
Resistance to tamoxifene
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
Resistance to vitamin K antagonists
Respiratory anthrax
Respiratory anthrax disease
Respiratory bronchiolitis-interstitial lung disease syndrome
Respiratory malformation
Respiratory or mediastinal malformation
Respiratory or thoracic malformation
Response to antiviral treatment in hepatitis C
Response to monoclonal antibody treatment
Response to PEG/IFN-ribavirin in HCV
Restrictive cardiomyopathy
Restrictive dermopathy
Reticular dysgenesis
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 arterial tortuosity
Retinal arteriolar tortuosity
Retinal capillary malformation
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-juvenile cataract-short stature syndrome
Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
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-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-deafness syndrome
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism 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-anemia-central nervous system anomalies syndrome
Retinopathy, Burgess-Black type
Retinopathy-encephalopathy-deafness associated with microangiopathy
Retinopathy of prematurity
Retinoschisis with early nyctalopia
Retrolental fibroplasia
Rett syndrome
Rett syndrome variant
Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
Reunion Island Larsen-like syndrome
Reversible cerebral vasoconstriction syndrome
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency
Revesz-DeBuse syndrome
Revesz syndrome
Reye syndrome
Reye tumor
Reynolds syndrome
RFT1-CDG
RGNT
Rhabdoid tumor
Rhabdoid tumor predisposition syndrome
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
Rhabdomyosarcoma
Rhabdomyosarcoma of the cervix uteri
Rhabdomyosarcoma of the corpus uteri
Rh deficiency syndrome
Rheumatic fever
Rheumatoid factor-negative JIA
Rheumatoid factor-negative JIA with anti-nuclear antibodies
Rheumatoid factor-negative JIA without anti-nuclear antibodies
Rheumatoid factor-negative juvenile idiopathic arthritis
Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies
Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies
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 pseudopolyarthritis
Rhizomelic shortness with clavicular defect
Rhizomelic syndrome, Urbach type
Rh-null syndrome
Rhombencephalosynapsis
RHYNS syndrome
Riboflavin transporter deficiency
Ribose-5-P isomerase deficiency
RICH
Richardson-Kirk syndrome
Richardson syndrome
Richards-Rundle syndrome
Richieri-Costa-Colletto syndrome
Richieri Costa-da Silva syndrome
Richieri-Costa-Gorlin syndrome
Richieri Costa-Guion Almeida-Ramos syndrome
Richieri Costa-Pereira syndrome
Richner-Hanhart syndrome
Ricker disease
Ricker syndrome
Rickettsiae disease
Rickettsial disease
Rickettsialpox
RI-CMT
RI-CMT type A
RI-CMT type B
RI-CMT type C
RI-CMT type D
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 21
Ring 22
Ring 3
Ring 4
Ring 5
Ring 6
Ring 7
Ring 8
Ring 9
Ring chromosome
Ring chromosome 1
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 1 syndrome
Ring chromosome 2
Ring chromosome 20
Ring chromosome 20 syndrome
Ring chromosome 21
Ring chromosome 21 syndrome
Ring chromosome 22
Ring chromosome 22 syndrome
Ring chromosome 2 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 Y
Ring chromosome Y syndrome
Ring dermoid of cornea
Ring dermoid syndrome
Ringed hair disease
RINR
Rippling muscle disease
Rippling muscle disease with myasthenia gravis
Ritscher-Schinzel syndrome
Rivera-Perez-Salas syndrome
rMED
RNF13-related severe early-onset epileptic encephalopathy
RNF13-related severe EOEE
RNF168 deficiency
RNS
Roberts-SC phocomelia syndrome
Roberts syndrome
Robinow dwarfism
Robinow-Silverman-Smith syndrome
Robinow syndrome
Robinow-Unger syndrome
Robin sequence-oligodactyly syndrome
Roch-Leri mesosomatous lipomatosis
Rocky Mountain spotted fever
Rod monochromacy
Rod monochromatism
Rogers syndrome
ROHHAD
ROHHADNET
Roifman-Chitayat syndrome
Roifman syndrome
Rokitansky sequence
Rokitansky syndrome
Rolandic epilepsy
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
Rosaï-Dorfman-Destombes disease
Rosaï-Dorfman 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
Rozin-camptodactyly syndrome
Rozin-Hertz-Goodman syndrome
RRS
RSH syndrome
RTHa
RTHb
RTLA
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
Russell diencephalic cachexia
Russell syndrome
Russell-Weaver-Bull syndrome
Rutherfurd syndrome
Ruvalcaba syndrome
RVCL
RVCL-S
rvFTD
RXLI
r(Y)
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