Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
Cone-Rod Dystrophy, X-Linked, 2 |
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Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
Retinitis Pigmentosa 67 |
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Rod-cone dystrophy |
OMIM:615565 |
Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 24 |
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Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
Retinitis Pigmentosa, Y-Linked |
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Rod-cone dystrophy |
OMIM:400004 |
Retinitis Pigmentosa 55 |
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Rod-cone dystrophy |
OMIM:613575 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Choroidal Dystrophy, Central Areolar, 3 |
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Drusen, Chorioretinal atrophy |
OMIM:613144 |
Atrophia Maculosa Varioliformis Cutis, Familial |
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Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
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Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 4 |
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Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
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Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
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Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
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Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
Diarrhea 9 |
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Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
Choroidal Dystrophy, Central Areolar, 1 |
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Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Macular Degeneration, Age-Related, 13 |
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Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Retinitis Pigmentosa 48 |
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Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
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Growth delay, Villous atrophy, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinitis Pigmentosa 36 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Macular Degeneration, Early-Onset |
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Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive |
OMIM:615863 |
Stargardt Disease 4 |
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Macular degeneration, Retinal flecks |
OMIM:603786 |
Lactose Intolerance, Adult Type |
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Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
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Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Diarrhea 11, Malabsorptive, Congenital |
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Villous atrophy, Diarrhea |
OMIM:618662 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
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Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Macular Degeneration, Atrophic, X-Linked |
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Macular degeneration |
OMIM:300834 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... |
OMIM:619445 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Bile Acid Malabsorption, Primary, 1 |
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Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... |
OMIM:613291 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Chylomicron Retention Disease |
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Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, Vomiting, Stea... |
OMIM:246700 |
Macular Degeneration, Age-Related, 1 |
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Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Secondary Short Bowel Syndrome |
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Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Leber Congenital Amaurosis 19 |
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Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Retinitis Pigmentosa 33 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Coloboma Of Macula |
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Macular coloboma |
OMIM:120300 |
Congenital Tufting Enteropathy |
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Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Polyposis of gastric fundus without polyposis coli |
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Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Chorioretinal Atrophy, Progressive Bifocal |
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Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Trichohepatoenteric Syndrome 2 |
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Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... |
OMIM:614602 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Lactase Deficiency, Congenital |
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Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Retinitis Pigmentosa 50 |
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Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Small Bowel Atresia |
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Intestinal hypoplasia, Short stature, Intestinal malrotation, Jejunal atresia, Vomiting, Intraute... |
ORPHA:1201 |
Proprotein Convertase 1/3 Deficiency |
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Villous atrophy, Obesity, Diarrhea, Malabsorption |
OMIM:600955 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Retinitis Pigmentosa 32 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... |
OMIM:619079 |
Autoinflammation With Infantile Enterocolitis |
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Villous atrophy, Short stature, Secretory diarrhea, Enterocolitis, Failure to thrive, Episodic vo... |
OMIM:616050 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 3, Autosomal Dominant |
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Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
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Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
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Retinal detachment |
OMIM:617238 |
Irvan Syndrome |
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Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinal Dystrophy And Obesity |
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Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Congenital Short Bowel Syndrome |
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Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... |
OMIM:615237 |
Congenital Disorder Of Glycosylation, Type Ib |
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Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, Failure to thrive |
OMIM:602579 |
Ménétrier Disease |
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Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... |
ORPHA:2494 |
Immunodeficiency 85 And Autoimmunity |
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Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Growth delay, Vomiting |
OMIM:619510 |
Congenital Disorder Of Glycosylation, Type Id |
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Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Feingold Syndrome 2 |
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Postnatal growth retardation, Short stature, Intestinal atresia |
OMIM:614326 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Refractory Celiac Disease |
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Villous atrophy, Malabsorption, Chronic diarrhea, Weight loss, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Nk-Cell Enteropathy |
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Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Primary Intestinal Lymphangiectasia |
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Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... |
ORPHA:90362 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive |
OMIM:209920 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Osteootohepatoenteric Syndrome |
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Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... |
OMIM:619377 |
Netherton Syndrome |
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Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal... |
OMIM:256500 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Failure to thrive, Villous atrophy, Ileus, Chronic diarrhea |
OMIM:304790 |
Pancreatic Colipase Deficiency |
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Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreat... |
ORPHA:309108 |
Hypercholanemia, Familial 1 |
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Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Villous atrophy, Chronic diarrhea, Growth delay, Inflammation of the large in... |
OMIM:614700 |
Immunodeficiency 31C |
|
Villous atrophy, Short stature, Diarrhea, Weight loss, Growth delay, Gastrointestinal eosinophili... |
OMIM:614162 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Postnatal growth retardation, Celiac disease, Short stature, Delayed puberty |
OMIM:618985 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Alpha-Heavy Chain Disease |
|
Growth delay, Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Weight loss, Hem... |
ORPHA:2070 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Pancreatic fibrosis, Small for gestational age, Malabsorption, Chronic diarrhea,... |
OMIM:557000 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Failure to thrive in infancy |
OMIM:606367 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Syndromic Diarrhea |
|
Villous atrophy, Short stature, Gastritis, Small for gestational age, Bloody diarrhea, Colitis, H... |
ORPHA:84064 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Diarrhea, Vomiting, Steatorrhea, Failure to thrive |
OMIM:212065 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Short stature, Small for gestational age, Intractable diarrhea, Intrauterine gro... |
OMIM:222470 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis |
OMIM:615190 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... |
OMIM:619573 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Parenteral Nutrition-Associated Cholestasis |
|
Biliary hyperplasia, Cholelithiasis, Villous atrophy, Small for gestational age |
ORPHA:567983 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Short stature, Diarrhea, Esophageal carcinoma, Enterocolitis, Growth delay, Abno... |
ORPHA:391487 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Diarrhea, Weight loss, Colitis, Vomiting, Anoperineal... |
OMIM:619381 |
Alg9-Cdg |
|
Villous atrophy, Rhizomelia, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplas... |
ORPHA:79328 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Williams Syndrome |
|
Colonic diverticula, Short stature, Peptic ulcer, Failure to thrive in infancy, Malabsorption, Cr... |
ORPHA:904 |