Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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X-linked dominant hypophosphatemic rickets |
Rickets, Vitamin D-Resistant; Hypophosphatemia, Vi..
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A rickets has_material_basis_in X-linked mutations..[+]
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endemic typhus |
A typhus that has_material_basis_in Rickettsia typ..[+]
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aneruptive fever |
Rickettsia helvetica spotted fever
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A spotted fever that has_material_basis_in Rickett..[+]
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exanthem |
Rash; exanthema
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n_a
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exanthema subitum |
Roseola Infantum; Sixth Disease
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A viral infectious disease that results_in infecti..[+]
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congenital disorder of glycosylation type I |
RFT1-CDG (CDG-1n); ALG1-CDG (CDG-1k); ALG11-CDG (C..
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A congenital disorder of glycosylation involve dis..[+]
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Senior-Loken syndrome |
renal-retinal syndrome; Loken Senior syndrome
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A syndrome characterized by progressive wasting of..[+]
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Bannayan-Riley-Ruvalcaba syndrome |
A Cowden syndrome that is characterized by macroce..[+]
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tyrosinemia type II |
Richner-Hanhart syndrome; Oculocutaneous tyrosinem..
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A tyrosinemia that has_material_basis_in deficienc..[+]
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cone dystrophy |
retinal cone dystrophy
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A retinal disease that is characterized by the los..[+]
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tricuspid valve disease |
A heart valve disease that is characterized by val..[+]
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amusia |
receptive amusia
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An agnosia that is a loss of the ability to recogn..[+]
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acrofrontofacionasal dysostosis |
Richieri-Costa-Colletto syndrome; AFFN dysostosis; ..
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A dysostosis characterized by intellectual disabil..[+]
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Dowling-Degos disease |
reticular pigment anomaly of flexures; dark dot di..
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A pigmentation disease characterized by a reticula..[+]
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dyschromatosis symmetrica hereditaria |
reticulate acropigmentation of Dohi
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A pigmentation disease characterized by progressiv..[+]
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Perlman syndrome |
renal hamartomas, nephroblastomatosis and fetal gi..
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A syndrome characterized by polyhydramnios with ne..[+]
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autosomal recessive Robinow syndrome |
RRS; costovertebral segmentation defect-mesomelia ..
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A Robinow syndrome characterized by autosomal rece..[+]
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EEC syndrome |
Rudiger syndrome 1; ectrodactyly, ectodermal dyspl..
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An autosomal dominant disease characterized by ect..[+]
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hypomyelinating leukodystrophy 9 |
RARS-related autosomal recessive hypomyelinating l..
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A hypomyelinating leukodystrophy characterized by ..[+]
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osteopathia striata with cranial sclerosis |
Robinow-Unger syndrome; hyperostosis generalisata ..
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An osteosclerosis characterized by longitudinal st..[+]
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oculocutaneous albinism type III |
Rufous Oculocutaneous Albinism; OCA3
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An oculocutaneous albinism that has_material_basis..[+]
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hypoplastic right heart syndrome |
Right hypoplastic heart syndrome
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A congenital heart disease characterized by underd..[+]
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CAKUT |
Renal or urinary tract malformation; Congenital an..
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A urinary system disease characterized by structur..[+]
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thiamine-responsive megaloblastic anemia syndrome |
Rogers syndrome; thiamine metabolism dysfunction s..
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An autosomal recessive disease characterized by me..[+]
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achromatopsia 2 |
An achromatopsia that has_material_basis_in homozy..[+]
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achromatopsia 3 |
An achromatopsia that has_material_basis_in homozy..[+]
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short-rib thoracic dysplasia 9 with or without polydactyly |
renal dysplasia, retinal pigmentary dystrophy, cer..
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An asphyxiating thoracic dystrophy that has_materi..[+]
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autoimmune lymphoproliferative syndrome type 4 |
RAS-associated autoimmune leukoproliferative disor..
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An autoimmune lymphoproliferative syndrome that ha..[+]
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Axenfeld-Rieger syndrome type 1 |
Rieger syndrome type 1; RIEG1
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An Axenfeld-Rieger syndrome that has material basi..[+]
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Axenfeld-Rieger syndrome type 2 |
Rieger syndrome type 2; RIEG2
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An Axenfeld-Rieger syndrome that has material basi..[+]
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Axenfeld-Rieger syndrome type 3 |
An Axenfeld-Rieger syndrome that has_material_basi..[+]
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Charcot-Marie-Tooth disease recessive intermediate C |
A Charcot-Marie-Tooth disease intermediate type th..[+]
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Charcot-Marie-Tooth disease recessive intermediate A |
RI-CMTA; autosomal recessive intermediate Charcot-..
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A Charcot-Marie-Tooth disease intermediate type th..[+]
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Charcot-Marie-Tooth disease recessive intermediate D |
RI-CMT type D; autosomal recessive intermediate Ch..
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A Charcot-Marie-Tooth disease intermediate type th..[+]
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Charcot-Marie-Tooth disease recessive intermediate B |
RI-CMTB; autosomal recessive intermediate Charcot-..
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A Charcot-Marie-Tooth disease intermediate type th..[+]
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Charcot-Marie-Tooth disease X-linked recessive 5 |
Rosenberg-Chutorian syndrome; Charcot-Marie-Tooth ..
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A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
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congenital stationary night blindness autosomal dominant 1 |
rhodopsin-related congenital stationary night blin..
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A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness autosomal dominant 2 |
Rambusch type congenital stationary night blindnes..
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A congenital stationary night blindness characteri..[+]
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cone-rod dystrophy 2 |
A cone-rod dystrophy that has_material_basis_in he..[+]
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cone-rod dystrophy 6 |
retinal cone dystrophy 2; RCD2; CORD6
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A cone-rod dystrophy that has_material_basis_in he..[+]
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cone-rod dystrophy 16 |
retinal dystrophy with early macular involvement; ..
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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maturity-onset diabetes of the young type 5 |
A maturity-onset diabetes of the young characteriz..[+]
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neurofibromatosis 1 |
Recklinghausen's neurofibromatosis; neurofibromato..
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A neurofibromatosis characterized by multiple cafe..[+]
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diffuse cystic renal dysplasia |
renal dysplasia diffuse cystic; CYSRD; susceptibil..
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A cystic kidney disease characterized by nonsyndro..[+]
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syndactyly type 3 |
ringand little finger syndactyly; SDTY3; syndactyl..
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A syndactyly characterized by complete and bilater..[+]
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Diamond-Blackfan anemia 7 |
RPL11-related Diamond-Blackfan anemia; DBA7
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-blackfan anemia 3 |
RPS24-related Diamond-Blackfan anemia; DBA3
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 20 |
RPS15A-related Diamond-Blackfan anemia; DBA20
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 16 |
RPL27-related Diamond-Blackfan anemia; DBA16
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Mayer-Rokitansky-Kuster-Hauser syndrome |
Rokitansky syndrome; MRKH syndrome
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A syndrome characterized by aplasia of the uterus ..[+]
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