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Disease	Synonyms	Description
X-linked dominant hypophosphatemic rickets	Rickets, Vitamin D-Resistant; Hypophosphatemia, Vi.. [+] Rickets, Vitamin D-Resistant; Hypophosphatemia, Vitamin D-Resistant Rickets; hypophosphatemic rickets X-linked dominant; Vitamin D-Resistant Rickets, X-Linked; X-linked hypophosphatemia [-]	A rickets has_material_basis_in X-linked mutations..[+] A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. [-]
endemic typhus	Rat-Flea Typhus; Rickettsia felis spotted fever; c.. [+] Rickettsia felis spotted fever; Rat-Flea Typhus; cat flea rickettsiosis; fleaborne typhus; murine typhus; Shop typhus; toulon typhus; urban typhus; Urban Typhus of Malaya [-]	A typhus that has_material_basis_in Rickettsia typ..[+] A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. [-]
aneruptive fever	Rickettsia helvetica spotted fever	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. [-]
exanthem	Rash; exanthema	n_a
exanthema subitum	Roseola Infantum; Sixth Disease	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. [-]
congenital disorder of glycosylation type I	RFT1-CDG (CDG-1n); ALG1-CDG (CDG-1k); ALG11-CDG (C.. [+] RFT1-CDG (CDG-1n); ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG12-CDG (CDG-1g); ALG2-CDG (CDG-1i); ALG3-CDG (CDG-1d); ALG6-CDG (CDG-1c); ALG8-CDG (CDG-1h); ALG9-CDG (CDG-1l); DOLK-CDG (CDG-1m); DPAGT1-CDG (CDG-1j); DPM1-CDG (CDG-1e); DPM2-CDG (CDG-1u); DPM3-CDG (CDG-1o); MPDU1-CDG (CDG-1f); MPI-CDG (CDG-1b); PMM2-CDG (CDG-1a); SRD5A3-CDG (CDG-1q) [-]	A congenital disorder of glycosylation involve dis..[+] A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [-]
Senior-Loken syndrome	renal-retinal syndrome; Loken Senior syndrome	A syndrome characterized by progressive wasting of..[+] A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. [-]
Bannayan-Riley-Ruvalcaba syndrome	Ruvalcaba-Myhre-Smith syndrome; Riley-Smith syndro.. [+] Ruvalcaba-Myhre-Smith syndrome; Riley-Smith syndrome; RUVALCABA-MYHRE-SMITH SYNDROME; RILEY-SMITH SYNDROME; BANNAYAN-ZONANA SYNDROME; Bannayan-Zonana syndrome; Cowden syndrome 1 [-]	A Cowden syndrome that is characterized by macroce..[+] A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. [-]
tyrosinemia type II	Richner-Hanhart syndrome; Oculocutaneous tyrosinem.. [+] Richner-Hanhart syndrome; Oculocutaneous tyrosinemia [-]	A tyrosinemia that has_material_basis_in deficienc..[+] A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. [-]
cone dystrophy	retinal cone dystrophy	A retinal disease that is characterized by the los..[+] A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. [-]
tricuspid valve disease	Rheumatic disease of tricuspid valve; Rheumatic tr.. [+] Rheumatic disease of tricuspid valve; Rheumatic tricuspid valve disease NOS (disorder); rheumatic tricuspid valve disease; Rheumatic disease of tricuspid valve (disorder); RH. tricuspid valve disease; disease of tricuspid valve; Tricuspid disease [-]	A heart valve disease that is characterized by val..[+] A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. [-]
amusia	receptive amusia	An agnosia that is a loss of the ability to recogn..[+] An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. [-]
acrofrontofacionasal dysostosis	Richieri-Costa-Colletto syndrome; AFFN dysostosis; .. [+] Richieri-Costa-Colletto syndrome; AFFN dysostosis [-]	A dysostosis characterized by intellectual disabil..[+] A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. [-]
Dowling-Degos disease	reticular pigment anomaly of flexures; dark dot di.. [+] reticular pigment anomaly of flexures; dark dot disease [-]	A pigmentation disease characterized by a reticula..[+] A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. [-]
dyschromatosis symmetrica hereditaria	reticulate acropigmentation of Dohi	A pigmentation disease characterized by progressiv..[+] A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. [-]
Perlman syndrome	renal hamartomas, nephroblastomatosis and fetal gi.. [+] renal hamartomas, nephroblastomatosis and fetal gigantism; nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor; nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor [-]	A syndrome characterized by polyhydramnios with ne..[+] A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. [-]
autosomal recessive Robinow syndrome	RRS; costovertebral segmentation defect-mesomelia .. [+] RRS; costovertebral segmentation defect-mesomelia syndrome; COVESDEM syndrome [-]	A Robinow syndrome characterized by autosomal rece..[+] A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. [-]
EEC syndrome	Rudiger syndrome 1; ectrodactyly, ectodermal dyspl.. [+] Rudiger syndrome 1; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; ectrodactyly-ectodermal dysplasia-clefting syndrome; Walker-Clodius syndrome [-]	An autosomal dominant disease characterized by ect..[+] An autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). [-]
hypomyelinating leukodystrophy 9	RARS-related autosomal recessive hypomyelinating l.. [+] RARS-related autosomal recessive hypomyelinating leukodystrophy; HLD9 [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. [-]
osteopathia striata with cranial sclerosis	Robinow-Unger syndrome; hyperostosis generalisata .. [+] Robinow-Unger syndrome; hyperostosis generalisata with striations [-]	An osteosclerosis characterized by longitudinal st..[+] An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. [-]
oculocutaneous albinism type III	Rufous Oculocutaneous Albinism; OCA3	An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of TYRP1 on chromosome 9p23. [-]
hypoplastic right heart syndrome	Right hypoplastic heart syndrome	A congenital heart disease characterized by underd..[+] A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. [-]
CAKUT	Renal or urinary tract malformation; Congenital an.. [+] Renal or urinary tract malformation; Congenital anomalies of the kidney and urinary tract [-]	A urinary system disease characterized by structur..[+] A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. [-]
thiamine-responsive megaloblastic anemia syndrome	Rogers syndrome; thiamine metabolism dysfunction s.. [+] Rogers syndrome; thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type); thiamine-responsive anemia syndrome; thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; thiamine-responsive myelodysplasia; THMD1; TRMA [-]	An autosomal recessive disease characterized by me..[+] An autosomal recessive disease characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine that has_material_basis_in homozygous mutation in the SLC19A2 gene on chromosome 1q24. [-]
achromatopsia 2	RMCH2; rod monochromacy 2; rod monochromatism 2; A.. [+] rod monochromatism 2; rod monochromacy 2; RMCH2; ACHM2 [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. [-]
achromatopsia 3	RMCH1; rod monochromacy 1; rod monochromatism 1; A.. [+] rod monochromatism 1; rod monochromacy 1; RMCH1; ACHM1; ACHM3; Pingelapese blindness [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. [-]
short-rib thoracic dysplasia 9 with or without polydactyly	renal dysplasia, retinal pigmentary dystrophy, cer.. [+] renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; SRTD9 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. [-]
autoimmune lymphoproliferative syndrome type 4	RAS-associated autoimmune leukoproliferative disor.. [+] RAS-associated autoimmune leukoproliferative disorder; RAS-associated autoimmune leukoproliferative disease; RALD; ALPS type 4; ALPS type IV; ALPS4; autoimmune lymphoproliferative syndrome type IV [-]	An autoimmune lymphoproliferative syndrome that ha..[+] An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12. [-]
Axenfeld-Rieger syndrome type 1	Rieger syndrome type 1; RIEG1	An Axenfeld-Rieger syndrome that has material basi..[+] An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. [-]
Axenfeld-Rieger syndrome type 2	Rieger syndrome type 2; RIEG2	An Axenfeld-Rieger syndrome that has material basi..[+] An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. [-]
Axenfeld-Rieger syndrome type 3	RIEG3; Rieger syndrome type 3; anterior chamber cl.. [+] Rieger syndrome type 3; RIEG3; anterior chamber cleavage syndrome; anterior segment mesenchymal dysgenesis; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss [-]	An Axenfeld-Rieger syndrome that has_material_basi..[+] An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. [-]
Charcot-Marie-Tooth disease recessive intermediate C	RI-CMT type C; RI-CMTC; autosomal recessive interm.. [+] RI-CMTC; RI-CMT type C; autosomal recessive intermediate Charcot-Marie-Tooth disease type C; CMTRIC [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. [-]
Charcot-Marie-Tooth disease recessive intermediate A	RI-CMTA; autosomal recessive intermediate Charcot-.. [+] RI-CMTA; autosomal recessive intermediate Charcot-Marie-Tooth disease type A; Charcot-Marie-Tooth neuropathy recessive intermediate A; CMTRIA [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. [-]
Charcot-Marie-Tooth disease recessive intermediate D	RI-CMT type D; autosomal recessive intermediate Ch.. [+] RI-CMT type D; autosomal recessive intermediate Charcot-Marie-Tooth disease type D; CMTRID [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. [-]
Charcot-Marie-Tooth disease recessive intermediate B	RI-CMTB; autosomal recessive intermediate Charcot-.. [+] RI-CMTB; autosomal recessive intermediate Charcot-Marie-Tooth disease type B; Charcot-Marie-Tooth neuropathy recessive intermediate B; CMTRIB [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. [-]
Charcot-Marie-Tooth disease X-linked recessive 5	Rosenberg-Chutorian syndrome; Charcot-Marie-Tooth .. [+] Rosenberg-Chutorian syndrome; Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; CMTX5; optic atrophy, polyneuropathy, and deafness; X-linked Charcot-Marie-Tooth disease type 5 [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. [-]
congenital stationary night blindness autosomal dominant 1	rhodopsin-related congenital stationary night blin.. [+] rhodopsin-related congenital stationary night blindness; CSNBAD1 [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. [-]
congenital stationary night blindness autosomal dominant 2	Rambusch type congenital stationary night blindnes.. [+] Rambusch type congenital stationary night blindness; CSNBAD2 [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. [-]
cone-rod dystrophy 2	RCRD2; retinal cone-rod dystrophy 2; cone-rod reti.. [+] retinal cone-rod dystrophy 2; RCRD2; cone-rod retinal dystrophy 2; CORD2; CRD2 [-]	A cone-rod dystrophy that has_material_basis_in he..[+] A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. [-]
cone-rod dystrophy 6	retinal cone dystrophy 2; RCD2; CORD6	A cone-rod dystrophy that has_material_basis_in he..[+] A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. [-]
cone-rod dystrophy 16	retinal dystrophy with early macular involvement; .. [+] retinal dystrophy with early macular involvement; CORD16 [-]	A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. [-]
maturity-onset diabetes of the young type 5	RCAD; renal cysts and diabetes syndrome; atypical .. [+] renal cysts and diabetes syndrome; RCAD; atypical familial juvenile hyperuricemic nephropathy; atypical FJHN; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; familial hypoplastic glomerulocystic kidney; hypoplastic type glomerulocystic kidney disease; MODY5 [-]	A maturity-onset diabetes of the young characteriz..[+] A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. [-]
neurofibromatosis 1	Recklinghausen's neurofibromatosis; neurofibromato.. [+] Recklinghausen's neurofibromatosis; neurofibromatosis type I; NF1; Peripheral Neurofibromatosis; von Recklinghausen Disease [-]	A neurofibromatosis characterized by multiple cafe..[+] A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. [-]
diffuse cystic renal dysplasia	renal dysplasia diffuse cystic; CYSRD; susceptibil.. [+] renal dysplasia diffuse cystic; CYSRD; susceptibility to cystic renal dysplasia [-]	A cystic kidney disease characterized by nonsyndro..[+] A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. [-]
syndactyly type 3	ringand little finger syndactyly; SDTY3; syndactyl.. [+] ringand little finger syndactyly; SDTY3; syndactyly of fingers 4 and 5; syndactyly, type III [-]	A syndactyly characterized by complete and bilater..[+] A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. [-]
Diamond-Blackfan anemia 7	RPL11-related Diamond-Blackfan anemia; DBA7	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. [-]
Diamond-blackfan anemia 3	RPS24-related Diamond-Blackfan anemia; DBA3	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. [-]
Diamond-Blackfan anemia 20	RPS15A-related Diamond-Blackfan anemia; DBA20	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. [-]
Diamond-Blackfan anemia 16	RPL27-related Diamond-Blackfan anemia; DBA16	A Diamond-Blackfan anemia that has_material_basis_..[+] A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome	Rokitansky syndrome; MRKH syndrome	A syndrome characterized by aplasia of the uterus ..[+] A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. [-]

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