Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
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Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
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Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 38 With Basal Ganglia Calcification |
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Lymphadenopathy |
OMIM:616126 |
Reticuloendotheliosis, X-Linked |
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Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
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Hepatomegaly, Cataract |
ORPHA:79281 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
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Cryptorchidism, Cataract |
OMIM:274205 |
Lipoid Congenital Adrenal Hyperplasia |
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Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Galactosemia Ii |
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Cataract, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Corneal Dystrophy, Groenouw Type I |
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Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Immunodeficiency 75 With Lymphoproliferation |
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Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Galactosemia Iv |
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Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Kimura Disease |
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Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Cataract, Hypogonadism |
OMIM:254000 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Galactose Epimerase Deficiency |
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Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Increased ... |
ORPHA:90791 |
Cataract 9, Multiple Types |
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Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Hyperaldosteronism, Familial, Type I |
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Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Megalocornea |
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Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Laurence-Moon Syndrome |
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Hypoplasia of penis, Cataract, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, ... |
ORPHA:2377 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
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Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism |
ORPHA:1381 |
Galactose Mutarotase Deficiency |
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Hepatomegaly, Cataract, Decreased liver function, Cholestasis |
ORPHA:570422 |
Immunodeficiency 32A |
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Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
Hypogonadism-Cataract Syndrome |
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Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Familial Hyperaldosteronism Type I |
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Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Familial Hyperaldosteronism Type Iii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor... |
ORPHA:251274 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... |
OMIM:202010 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Cataract 47 |
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Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Hyperaldosteronism, Familial, Type Iii |
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Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ... |
ORPHA:90790 |
Galactosemia I |
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Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotrans... |
OMIM:230400 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Thanatophoric Dysplasia, Glasgow Variant |
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Cataract, Hepatosplenomegaly |
OMIM:273680 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin, Hyperaldosteronism, Dexamethaso... |
ORPHA:369929 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Primary Unilateral Adrenal Hyperplasia |
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Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper... |
ORPHA:231580 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hypoparathyroidism, Nephrocalcinosis, Cataract, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Anterior Segment Dysgenesis 7 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... |
ORPHA:96181 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Hypoparathyroidism, Chronic active hepatitis, Cataract, Female hypogonadism, Decreased circulatin... |
OMIM:240300 |
Tetraamelia Syndrome 1 |
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Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia... |
OMIM:273395 |
Autosomal Dominant Keratitis |
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Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis |
OMIM:611812 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Microcornea, Cataract, Aniridia |
OMIM:106230 |
Aniridia 2 |
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Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Cadds |
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Elevated hepatic transaminase, Cataract, Cholangitis, Adrenal hypoplasia, Cholestasis |
ORPHA:369942 |
Anterior Segment Dysgenesis 2 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Cataract 10, Multiple Types |
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Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Ectopia Lentis Et Pupillae |
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Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Familial Isolated Hypoparathyroidism |
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Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Neph... |
ORPHA:2238 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Alport Syndrome 2, Autosomal Recessive |
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Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Aniridia-Absent Patella Syndrome |
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Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Microphthalmia, Syndromic 5 |
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Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis |
OMIM:610125 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Alagille Syndrome 1 |
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Multiple small medullary renal cysts, Microcornea, Papillary thyroid carcinoma, Vesicoureteral re... |
OMIM:118450 |
Meckel Syndrome |
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Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros... |
ORPHA:564 |
Cataract 20, Multiple Types |
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Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology... |
OMIM:236680 |
Purine Nucleoside Phosphorylase Deficiency |
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Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... |
ORPHA:99889 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Cataract, Adrenal hyperplasia, Congenital hypo... |
ORPHA:79500 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Agammaglobulinemia, X-Linked |
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Lymph node hypoplasia |
OMIM:300755 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
|
ORPHA:36386 |
Neuropathy, Hereditary Sensory, Type If |
|
|
OMIM:615632 |