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Disease	Synonyms	Description	Articles	Phenotypes
rainbow trout allergy	Oncorhynchus mykiss allergy	A fish allergy triggered by Oncorhynchus mykiss.
Ritscher-Schinzel syndrome	3C syndrome; craniocerebellocardiac dysplasia; CCC.. [+] 3C syndrome; craniocerebellocardiac dysplasia; CCC dysplasia [-]	A syndrome characterized by craniofacial (prominen..[+] A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. [-]
Ritscher-Schinzel syndrome 1		A Ritscher-Schinzel syndrome that has_material_bas..[+] A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. [-]
Ritscher-Schinzel syndrome 2		A Ritscher-Schinzel syndrome that has_material_bas..[+] A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. [-]
recessive dystrophic epidermolysis bullosa	RDEB, Hallopeau-Siemens type; autosomal recessive .. [+] RDEB, Hallopeau-Siemens type; autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; severe generalized RDEB; severe generalized recessive dystrophic epidermolysis bullosa [-]	An epidermolysis bullosa dystrophica characterized..[+] An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. [-]
restrictive dermopathy	hyperkeratosis-contracture syndrome; tight skin co.. [+] hyperkeratosis-contracture syndrome; tight skin contracture syndrome; lethal restrictive dermopathy; Infantile restrictive dermopathy; Lethal tight skin contracture syndrome [-]	A skin disease characterized by thin, tightly adhe..[+] A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. [-]	1 articles
right atrial isomerism	asplenia with cardiovascular anomalies; Ivemark sy.. [+] asplenia with cardiovascular anomalies; Ivemark syndrome [-]	A visceral heterotaxy characterized by complete at..[+] A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. [-]
renal hypomagnesemia 3	renal hypomagnesemia type 3; familial primary hypo.. [+] renal hypomagnesemia type 3; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; FHHNC without severe ocular involvement; isolated renal hypomagnesemia; primary hypomagnesemia due to defect in renal tubular transport of magnesium; HOMG3 [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. [-]
renal hypomagnesemia 5 with ocular involvement	bilateral macular coloboma with hypercalciuria; fa.. [+] bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; FHHNC with severe ocular involvement; hypercalciuria-bilateral macular coloboma syndrome; Meier-Blumberg-Imahorn syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
renal hypomagnesemia 4	HOMG4	A hypomagnesemia characterized by isolated hypomag..[+] A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in variation in the chromosome region 4q25. [-]
renal hypomagnesemia 6	HOMG6	A hypomagnesemia characterized by autosomal domina..[+] A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. [-]
renal hypomagnesemia 2	autosomal dominant primary hypomagnesemia with hyp.. [+] autosomal dominant primary hypomagnesemia with hypocalciuria; HOMG2 [-]	A hypomagnesemia characterized by autosomal domina..[+] A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. [-]
Revesz syndrome	DKCA5; Dyskeratosis Congenita, Autosomal Dominant .. [+] DKCA5; Dyskeratosis Congenita, Autosomal Dominant 5; exudative retinopathy with bone marrow failure [-]	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. [-]
rippling muscle disease 1		A muscle tissue disease characterized by electrica..[+] A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. [-]
restrictive dermopathy 1		A restrictive dermopathy that has_material_basis_i..[+] A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. [-]
restrictive dermopathy 2		A restrictive dermopathy that has_material_basis_i..[+] A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
retinal macular dystrophy	MCDR	A macular degeneration characterized by non-progre..[+] A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. [-]
retinal macular dystrophy 3	MCDR3	A retinal macular dystrophy that has_material_basi..[+] A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. [-]
retinal macular dystrophy 4	MCDR4	A retinal macular dystrophy characterized by late-..[+] A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. [-]
retinal macular dystrophy 2	MCDR2	A retinal macular dystrophy characterized by slowl..[+] A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. [-]
reducing body myopathy 1A		A myopathy that is characterized by by the presenc..[+] A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. [-]
relapsed/refractory diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma characterized by l..[+] A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. [-]
renal hypoplasia		A kidney disease that is characterized by abnormal..[+] A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. [-]
retinitis pigmentosa 81		A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. [-]
reducing body myopathy 1B		A myopathy that is characterized by by the presenc..[+] A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. [-]
RASopathy	RAS/mitogen-activated protein kinase syndrome	A syndrome that has_material_basis_in mutations in..[+] A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. [-]	6 articles	24 matches
RELA fusion-positive ependymoma	C11orf95 fusion-positive supratentorial ependymoma.. [+] C11orf95 fusion-positive supratentorial ependymoma; Supratentorial C11ORF95-RELA fused ependymoma [-]	A supratentorial ependymoma that has_material_basi..[+] A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. [-]
rapidly involuting congenital hemangioma		A hemangioma that is characterized by complete reg..[+] A hemangioma that is characterized by complete regression. [-]
RNASET2-deficient cystic leukoencephalopathy	cystic leukoencephalopathy without megalencephaly; .. [+] cystic leukoencephalopathy without megalencephaly; infantile-onset RNASET2 deficient cystic leukoencephalopathy [-]	A leukodystrophy that is characterized by non-prog..[+] A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. [-]
retinal cone dystrophy 3B	cone dystrophy with supernormal rod responses	A cone dystrophy that is characterized by onset in..[+] A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. [-]
retinal cone dystrophy 4		A cone dystrophy that has_material_basis_in homozy..[+] A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. [-]
retinal cone dystrophy 1		A cone dystrophy that is characterized as autosoma..[+] A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. [-]
retinal cone dystrophy 3A		A cone dystrophy that is characterized by reduced ..[+] A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13. [-]
Rafiq syndrome	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. [-]
rhizomelic chondrodysplasia punctate type 4		A rhizomelic chondrodysplasia punctate that has_ma..[+] A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. [-]
rosette-forming glioneuronal tumor	Rosette-forming glioneuronal tumour; RGNT	A central nervous system benign neoplasm that is c..[+] A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. [-]
round cell sarcoma with EWSR1-non-ETS fusion	Round Cell Sarcoma with EWSR1::non-ETS Fusion; Ewi.. [+] Round Cell Sarcoma with EWSR1::non-ETS Fusion; Ewing-Like Sarcoma or Round Cell Sarcoma [-]	A small cell sarcoma that is characterized by the ..[+] A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. [-]
round cell sarcoma with EWSR1-NFATC2 gene fusion		A round cell sarcoma with EWSR1-non-ETS fusion tha..[+] A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. [-]
round cell sarcoma with EWSR1-PATZ1 gene fusion		A round cell sarcoma with EWSR1-non-ETS fusion tha..[+] A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. [-]
round cell sarcoma with FUS-NFATC2 gene fusion		A round cell sarcoma with EWSR1-non-ETS fusion tha..[+] A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. [-]
renal cell carcinoma with MiT translocations	MiT family translocation renal cell carcinoma; MiT.. [+] MiT family translocation renal cell carcinoma; MiT Family Translocation-Associated Renal Cell Carcinoma [-]	A renal cell carcinoma that is characterized by pa..[+] A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. [-]
renal coloboma syndrome	renal-coloboma syndrome with macular abnormalities.. [+] renal-coloboma syndrome with macular abnormalities; CAKUT with or without ocular abnormalities; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; optic coloboma, vesicoureteral reflux and renal anomalies; papillorenal syndrome; papillo-renal syndrome, optic nerve coloboma with renal disease; coloboma of optic nerve with renal disease [-]	A syndrome characterized by optic nerve coloboma a..[+] A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. [-]
RIDDLE syndrome	RNF168 deficiency; Radiosensitivity-immunodeficien.. [+] RNF168 deficiency; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome [-]	A syndrome that is characterized by increased radi..[+] A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. [-]
retinitis pigmentosa 59	RP59	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. [-]
retinitis pigmentosa 20	RP20	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. [-]
retinitis pigmentosa 19	RP19	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. [-]	1 articles
retinitis pigmentosa 32	RP32	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3. [-]
retinitis pigmentosa 18	RP18	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. [-]
retinitis pigmentosa 35	RP35	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. [-]
retinitis pigmentosa 12	RP12	A retinitis pigmentosa that has_material_basis_in ..[+] A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. [-]

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