Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Cryptorchidism |
OMIM:274205 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Cataract |
OMIM:312910 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Abnormal stomach morphology, Hypogonadism, Renal insufficiency, Crypto... |
ORPHA:281090 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Anal atresia, Hypospadias, Hypoplasia o... |
ORPHA:1381 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Galactosemia Iv |
|
Hepatomegaly, Cataract |
OMIM:618881 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc... |
ORPHA:157798 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract, Renal tubular dysfunction |
ORPHA:1380 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Hepatomegaly, Splenomegaly, Cataract |
ORPHA:79238 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism, Cataract |
OMIM:254000 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Cleft palate |
OMIM:120433 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Cataract, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyosarcoma, Uteri... |
ORPHA:523 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Cataract |
OMIM:620425 |
Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
Cataract 47 |
|
Cataract, Microcornea, Glycosuria |
OMIM:612018 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Splenomegaly, Hepatocellular carcinoma |
OMIM:613490 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Bilateral cleft palate, Hematuria, Posterior embryotoxon, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Stickler Syndrome Type 2 |
|
Cataract, Cleft palate, Corneal opacity |
ORPHA:90654 |
Wagr Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral meatus, Am... |
ORPHA:893 |
Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Abnormal morphology of female internal genitalia, Furrowed tongue, Hematuria, Tracheoes... |
ORPHA:1839 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Cryptorchidism, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Cataract, External genital hypoplasia, Cryptorchidism |
ORPHA:363741 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Cataract, Cryptorchidism |
OMIM:601794 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Cataract, Bone marrow hypocellularity, Decreased pineal volum... |
OMIM:301108 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Cataract, Gastroesophageal reflux, Anterior lenticonus, Kera... |
ORPHA:1018 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphaden... |
OMIM:602450 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly, Pyloric stenosis |
ORPHA:664 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia, Cryptorchidism |
ORPHA:1069 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
Congenital Tufting Enteropathy |
|
Cataract, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal... |
ORPHA:92050 |
Zellweger Syndrome |
|
Cataract, Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Hydronephrosis, Pos... |
ORPHA:912 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Cryptorchidism |
ORPHA:2617 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... |
ORPHA:2494 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract, Meckel diverticulum, Bilateral cryptorchidism, Developmental cataract, Pyloric stenosis |
OMIM:616395 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Multicystic kidney dysplasia, Intestinal malrotation, Hors... |
ORPHA:2538 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Intestinal m... |
OMIM:243605 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephritis, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... |
OMIM:203780 |
Griscelli Syndrome |
|
Iris hypopigmentation, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:381 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Gastric varix, Esophageal varix, Hepato... |
ORPHA:64743 |
Periventricular Nodular Heterotopia |
|
Gastroesophageal reflux, Thin skin, Pyloric stenosis |
ORPHA:98892 |
Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Cataract, Renal insufficiency, Pulmonary lymphangiectasia, Hypoparathyroidism |
OMIM:247410 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis, Cleft palate |
OMIM:610125 |
Systemic Sclerosis |
|
Chronic kidney disease, Barrett esophagus, Intestinal bleeding, Abnormal large intestine morpholo... |
ORPHA:90291 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Enterocolitis, Ulcerative colitis, Corneal erosion |
OMIM:614878 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Bilateral cryptorchidism, Pyloric stenosis |
ORPHA:314575 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cataract, Pyloric stenosis, Cryptorchidism, Developmental glaucoma, Thin skin |
OMIM:614438 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Gastric varix, Splenomegaly, Esophageal varix |
OMIM:620367 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr... |
OMIM:300048 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Axillary pterygium, Urethrovesical occlusion, Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... |
ORPHA:1876 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Iris coloboma, Cataract, Clitoral hypertrophy, Peters anomaly, Hypoplasia of the uterus, Anterior... |
OMIM:309801 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormal urinary color |
ORPHA:234 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, ... |
OMIM:308940 |
Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Keratoconjunctivitis sic... |
ORPHA:779 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
Knobloch Syndrome |
|
Cataract, Ectopia lentis, Bifid ureter, Vesicoureteral reflux, Lymphangioma, Pyloric stenosis |
ORPHA:1571 |
Traboulsi Syndrome |
|
Bifid uvula, Cataract, Homocystinuria, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, ... |
OMIM:601552 |
Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Multicystic kidney dysplasia, Microcornea, Asplenia, Aplasia/Hypoplas... |
ORPHA:564 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina... |
ORPHA:512 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Elevated urinary inosine level, Lymph node hypoplasia, Splenomegaly, Ele... |
OMIM:613179 |
Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Prostatitis, Conjunctivitis, Epididymitis, Hepatocellular carcinoma |
OMIM:300755 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Cataract, Hypogonadism, External genital hypoplasia, Cryptorchidism, Submucous cleft... |
ORPHA:2250 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormality of the ureter, A... |
ORPHA:141127 |
Chronic Granulomatous Disease |
|
Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Mediastinal lymphadenopathy, Pyloric stenosis |
ORPHA:379 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Pterygium, Congenital pyloric atresia, Hematuria, Uret... |
ORPHA:79403 |
Hardikar Syndrome |
|
Hydroureter, Intestinal malrotation, Hepatosplenomegaly, Cleft soft palate, Renal insufficiency, ... |
OMIM:301068 |
Jacobsen Syndrome |
|
Cataract, Multicystic kidney dysplasia, Microcornea, Webbed neck, Annular pancreas, Bone marrow h... |
ORPHA:2308 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Cataract, Band keratopathy, Keratoconjunctivitis, Steatorrhea, Asplenia |
OMIM:269200 |
Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Abnormality of the uterus, Breast aplasia, Cryptorchidism, Ectopic anus, Hypopl... |
ORPHA:3138 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... |
ORPHA:91495 |
Tetraamelia Syndrome 1 |
|
Cataract, Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Vaginal atresia, A... |
OMIM:273395 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Horseshoe kidney, Renal i... |
ORPHA:93111 |
Williams Syndrome |
|
Megalocornea, Cryptorchidism, Polycystic ovaries, Posterior embryotoxon, Flat cornea, Rectal prol... |
ORPHA:904 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urethra, Ureterocele, Congenital pyloric atresia, Hydronephrosis, Glomerular s... |
ORPHA:158684 |
Mowat-Wilson Syndrome |
|
Iris coloboma, Abnormal enteric ganglion morphology, Microcornea, Cataract, Bifid scrotum, Ectopi... |
OMIM:235730 |
Knobloch Syndrome 2 |
|
Anterior cortical cataract, Pyloric stenosis |
OMIM:618458 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anal stenosis, Imperforate hymen, Axillary apocrine g... |
OMIM:181450 |
Viss Syndrome |
|
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... |
OMIM:619472 |
Microphthalmia, Syndromic 1 |
|
High, narrow palate, Iris coloboma, Renal hypoplasia, Microcornea, Hydroureter, Webbed neck, Cili... |
OMIM:309800 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |