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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]	1 articles
tricuspid valve disease	Rheumatic disease of tricuspid valve; Rheumatic tr.. [+] Rheumatic disease of tricuspid valve; Rheumatic tricuspid valve disease; 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; Walker-Clodius syndrome; ectrodactyly-ectodermal dysplasia-clefting syndrome [-]	A syndrome characterized by ectrodactyly, ectoderm..[+] A syndrome 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 the TYRP1 gene on chromosome 9p23. [-]
familial partial lipodystrophy type 2	reverse partial lipodystrophy; familial lipodystro.. [+] reverse partial lipodystrophy; familial lipodystrophy of limbs and lower trunk; familial partial lipodystrophy Dunnigan type; FPLD2 [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. [-]
intrahepatic cholestasis of pregnancy	recurrent intrahepatic cholestasis of pregnancy; g.. [+] recurrent intrahepatic cholestasis of pregnancy; gravidic intrahepatic cholestasis; ICP; pregnancy related cholestasis [-]	An intrahepatic cholestasis characterized by rever..[+] An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. [-]
congenital disorder of glycosylation type IIc	Rambam-Hasharon syndrome; CDG IIc; CDG2C; CDGIIc	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. [-]
multiple epiphyseal dysplasia 4	rMED; MED4; multiple epiphyseal dysplasia with clu.. [+] rMED; MED4; multiple epiphyseal dysplasia with clubfoot; Polyepiphyseal dysplasia type 4; EDM4; multiple epiphyseal dysplasia with bilateral patellae [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. [-]
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. [-]
North Carolina macular dystrophy	retinal macular dystrophy 1; central areolar pigme.. [+] retinal macular dystrophy 1; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; MCDR1; NCMD; progressive foveal dystrophy [-]	A retinal macular dystrophy characterized by limit..[+] A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. [-]
SMARCB1-deficient renal medullary carcinoma	RMC; renal medullary carcinoma; kidney medullary c.. [+] renal medullary carcinoma; RMC; kidney medullary carcinoma; medullary carcinoma of the kidney; medullary renal cell carcinoma [-]	A renal cell carcinoma that develops in the renal ..[+] A renal cell carcinoma that develops in the renal medulla. [-]
mitochondrial DNA depletion syndrome 8a	RRM2B-related mitochondrial DNA depletion syndrome.. [+] RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. [-]
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. [-]	8 articles	21 matches
Fazio-Londe disease	riboflavin transporter deficiency neuronopathy	A progressive bulbar palsy that is characterized b..[+] A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. [-]
partial androgen insensitivity syndrome	Reifenstein syndrome	An androgen insensitivity syndrome that is charact..[+] An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. [-]
apolipoprotein A-IV associated amyloidosis	renal AApoAIV amyloidosis; AApoAIV amyloidosis	An amyloidosis that is characterized by slowly pro..[+] An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. [-]
TFEB-rearranged renal cell carcinoma	Renal Cell Carcinoma with t(6; Renal Cell Carcinom.. [+] Renal Cell Carcinoma with t(6; Renal Cell Carcinoma with t(6; 11); (p21; q12); MALAT1-TFEB; 11); (p21; q12); MALAT1::TFEB; t(6; 11) Renal Cell Carcinoma; t(6; 11); (p21; q12) Renal Cell Carcinoma [-]	A renal cell carcinoma with MiT translocations tha..[+] A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. [-]
TFE3-rearranged renal cell carcinoma	Renal Cell Carcinoma Associated with Xp11.2 Transl.. [+] Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions; Xp11 Translocation Renal Cell Carcinoma [-]	A renal cell carcinoma with MiT translocations tha..[+] A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. [-]
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; TRMA; thiamine-responsive myelodysplasia; thiamine-responsive megaloblastic anaemia syndrome; thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness; thiamine metabolism dysfunction syndrome 1; THMD1; thiamine-responsive anaemia syndrome [-]	A syndrome that is characterized by megaloblastic ..[+] A syndrome that is 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, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. [-]
achromatopsia 2	rod monochromacy 2; rod monochromatism 2; RMCH2; A.. [+] RMCH2; rod monochromatism 2; rod monochromacy 2; 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. [-]	1 articles
achromatopsia 3	RMCH1; rod monochromacy 1; rod monochromatism 1; A.. [+] rod monochromatism 1; rod monochromacy 1; RMCH1; ACHM1; Pingelapese blindness; ACHM3 [-]	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. [-]	1 articles
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	RALD; RAS-associated autoimmune leukoproliferative.. [+] RALD; RAS-associated autoimmune leukoproliferative disorder; RAS-associated autoimmune leukoproliferative disease; ALPS type IV; ALPS4; autoimmune lymphoproliferative syndrome type IV; ALPS type 4 [-]	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. [-]	2 articles
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; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; anterior segment mesenchymal dysgenesis [-]	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; CMTRIC; autosomal recessiv.. [+] RI-CMTC; RI-CMT type C; CMTRIC; autosomal recessive intermediate Charcot-Marie-Tooth disease type C [-]	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; Charcot-Marie-Tooth neuropathy recessive .. [+] RI-CMTA; Charcot-Marie-Tooth neuropathy recessive intermediate A; CMTRIA; autosomal recessive intermediate Charcot-Marie-Tooth disease type A [-]	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; CMTRIB; Charcot-Marie-Tooth neuropathy recessive intermediate B [-]	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; optic atrophy, polyneuropathy, and deafness; X-linked Charcot-Marie-Tooth disease type 5; CMTX5 [-]	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; CRD2; CORD2 [-]	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	renal cysts and diabetes syndrome; RCAD; atypical .. [+] RCAD; renal cysts and diabetes syndrome; atypical familial juvenile hyperuricemic nephropathy; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; familial hypoplastic glomerulocystic kidney; hypoplastic type glomerulocystic kidney disease; MODY5; atypical FJHN [-]	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. [-]	2 articles
cerebrocostomandibular syndrome	rib gap defects with micrognathia; CCMS; cerebro-c.. [+] rib gap defects with micrognathia; CCMS; cerebro-costo-mandibular syndrome; CCM syndrome [-]	A syndrome characterized by severe micrognathia, p..[+] A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. [-]
neurofibromatosis 1	Recklinghausen's neurofibromatosis; familial spina.. [+] Recklinghausen's neurofibromatosis; familial spinal neurofibromatosis; neurofibromatosis type I; Peripheral Neurofibromatosis; von Recklinghausen Disease; FSNF; NF1 [-]	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. [-]	1 articles
histiocytosis-lymphadenopathy plus syndrome	Rosai–Dorfman disease; Faisalabad histiocytosis; f.. [+] Rosai–Dorfman disease; Faisalabad histiocytosis; familial Rosai-Dorfman disease; H syndrome; histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness; histiocytosis with joint contractures and sensorineural deafness; HJCD; PHID; pigmented hypertrichosis with insulin-dependent diabetes mellitus; SHML; sinus histiocytosis and massive lymphadenopathy; cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss [-]	A syndrome characterized by histiocytosis, hyperpi..[+] A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. [-]
IVIC syndrome	radial ray defects, hearing impairment, external o.. [+] radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; Oculootoradial syndrome; oculo-oto-radial syndrome; OORS; Instituto Venezolano de Investigaciones Cientificas syndrome [-]	A syndrome characterized by radial ray defect of v..[+] A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. [-]

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