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