Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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exanthem |
Rash; exanthema
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A skin disease that is characterized by a rash tha..[+]
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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 characteriz..[+]
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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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1 articles | |
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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1 articles | |
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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A syndrome characterized by ectrodactyly, ectoderm..[+]
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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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familial partial lipodystrophy type 2 |
reverse partial lipodystrophy; familial lipodystro..
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A familial partial lipodystrophy characterized by ..[+]
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intrahepatic cholestasis of pregnancy |
recurrent intrahepatic cholestasis of pregnancy; g..
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An intrahepatic cholestasis characterized by rever..[+]
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Loeys-Dietz syndrome 5 |
RNHF; Reinhoff syndrome; LDS5
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A Loeys-Dietz syndrome that has_material_basis_in ..[+]
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congenital disorder of glycosylation type IIc |
Rambam-Hasharon syndrome; CDG IIc; CDG2C; CDGIIc
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A congenital disorder of glycosylation type II tha..[+]
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multiple epiphyseal dysplasia 4 |
rMED; MED4; multiple epiphyseal dysplasia with clu..
[+]
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A multiple epiphyseal dysplasia that has_material_..[+]
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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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North Carolina macular dystrophy |
retinal macular dystrophy 1; central areolar pigme..
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A retinal macular dystrophy characterized by limit..[+]
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SMARCB1-deficient renal medullary carcinoma |
A renal cell carcinoma that develops in the renal ..[+]
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mitochondrial DNA depletion syndrome 8a |
RRM2B-related mitochondrial DNA depletion syndrome..
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A mitochondrial DNA depletion syndrome that is cha..[+]
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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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8 articles | 21 matches |
Fazio-Londe disease |
riboflavin transporter deficiency neuronopathy
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A progressive bulbar palsy that is characterized b..[+]
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partial androgen insensitivity syndrome |
Reifenstein syndrome
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An androgen insensitivity syndrome that is charact..[+]
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apolipoprotein A-IV associated amyloidosis |
renal AApoAIV amyloidosis; AApoAIV amyloidosis
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An amyloidosis that is characterized by slowly pro..[+]
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TFEB-rearranged renal cell carcinoma |
A renal cell carcinoma with MiT translocations tha..[+]
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TFE3-rearranged renal cell carcinoma |
Renal Cell Carcinoma Associated with Xp11.2 Transl..
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A renal cell carcinoma with MiT translocations tha..[+]
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thiamine-responsive megaloblastic anemia syndrome |
Rogers syndrome; thiamine metabolism dysfunction s..
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A syndrome that is characterized by megaloblastic ..[+]
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achromatopsia 2 |
An achromatopsia that has_material_basis_in homozy..[+]
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1 articles | ||
achromatopsia 3 |
An achromatopsia that has_material_basis_in homozy..[+]
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1 articles | ||
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 |
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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2 articles | |
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; Charcot-Marie-Tooth neuropathy recessive ..
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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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