Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Hypercalcemia |
ORPHA:2123 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... |
OMIM:617872 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Cleft p... |
OMIM:154230 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hypocalcemia, Malabsorption |
ORPHA:100025 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Tracheoesophageal fistula, Hypercalcemia, Abnormal intestine morphology |
ORPHA:2591 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Intestinal malrotation, Bicornuate uterus, Abnormality of ... |
ORPHA:2143 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Cryptorchidism, Micropenis, Hypospadias, Hypercalcemia |
OMIM:614732 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Coach Syndrome 2 |
|
Coloboma, Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Hypercalcemia |
ORPHA:69077 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Hypercalcemia |
ORPHA:94080 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration, Ileitis |
OMIM:618287 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Malabsorption |
ORPHA:172 |
Abetalipoproteinemia |
|
Retinopathy, Fat malabsorption, Abetalipoproteinemia, Retinal degeneration |
OMIM:200100 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macular dystrophy, Abnormal retinal morphology on macular OCT, Hypercalcemia, Increased blood ure... |
ORPHA:251004 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypertensive retinopathy, Hypercalcemia |
OMIM:171420 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Cryptorchidism, Macroglossia, Protein-losing enteropathy, Hypocalcemia |
OMIM:618440 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia |
OMIM:615863 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Macroglossia, Protein-losing enteropathy, Hypoalbuminemi... |
ORPHA:79320 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Preeclampsia |
|
Helicobacter pylori infection, Elevated circulating creatinine concentration, Polycystic ovaries |
ORPHA:275555 |
C3 Glomerulopathy |
|
Drusen, Yellow/white lesions of the retina, Central serous chorioretinopathy, Elevated circulatin... |
ORPHA:329918 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent... |
OMIM:175500 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology |
OMIM:219750 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Protein-losing ent... |
ORPHA:398063 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Celiac disease, Hyperkalemia, Hyperuricemia |
ORPHA:199299 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus, Intestinal malrotation, Cleft palate |
OMIM:615524 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Bifid uvula, Cleft palate |
OMIM:258320 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, High palate, Increased blood urea nitrogen |
OMIM:223360 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Hypercalcemia |
ORPHA:276621 |
Pheochromocytoma |
|
Hypertensive retinopathy, Hypercalcemia |
OMIM:171300 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia |
ORPHA:29072 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Con... |
ORPHA:220460 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Protein-losing en... |
OMIM:608104 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126840 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Abnormal retinal vascular morphology, Elev... |
ORPHA:247691 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Aminoaciduria, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, H... |
OMIM:615710 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Intermediate Osteopetrosis |
|
Hypocalcemia, Optic atrophy from cranial nerve compression |
ORPHA:210110 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat... |
OMIM:120330 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126850 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Cryptorchidism, Precocious puberty, Hyperkalemia |
OMIM:614736 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase, Malabsorption |
OMIM:600705 |
Mirage Syndrome |
|
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, ... |
OMIM:617053 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Functional abnorm... |
ORPHA:29073 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Addison Disease |
|
Hyponatremia, Primary testicular failure, Hypercalcemia, Celiac disease, Hyperkalemia, Increased ... |
ORPHA:85138 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hematochezia, Coloboma, Hypoalbuminemia, Hypo... |
OMIM:618183 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Cleft palate, Hypocalcemia, Aplasia of the uterus, Rod-cone dys... |
ORPHA:2237 |
Birk-Landau-Perez Syndrome |
|
Optic atrophy, Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Clitoral hypertrophy, Hypospadias, Female external genitalia in individual with 46,... |
ORPHA:90791 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Hypocalcemia |
ORPHA:53 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Cockayne Syndrome Type 1 |
|
Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Increased blood urea nitrogen, Male hypogo... |
ORPHA:90321 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Peptic ulcer, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypocalcemia |
ORPHA:1438 |
Vascular Hyalinosis |
|
Hematochezia, Chorioretinal scar, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Monosomy 13Q34 |
|
Hematochezia, Hypercalcemia |
ORPHA:96168 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, He... |
ORPHA:103910 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Zollinger-Ellison syndrome, Hypercalcemia, Esophagitis |
OMIM:131100 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Hypercalcemia, Peptic ulcer,... |
ORPHA:913 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Intestinal perforation, Rectal prolapse, Elevated circulating creatinine concentrat... |
ORPHA:90038 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Attenuation of retinal blood vessels |
OMIM:614376 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Peptic ulcer, Hypercalcemia, Testicular neoplasm, Hypophosphatemia, Uterine leiomyoma, Dysphagia |
ORPHA:99880 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp... |
OMIM:174900 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Optic atrophy, Hypokalemia, Aminoaciduria, High palate, Hypocalcemia, G... |
OMIM:617913 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Parathyroid Carcinoma |
|
Peptic ulcer, Hypercalcemia, Testicular neoplasm, Hypophosphatemia, Uterine leiomyoma, Dysphagia |
ORPHA:143 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate, Gastroesophageal re... |
ORPHA:369837 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Hypercalcemia |
ORPHA:476126 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaph... |
OMIM:201810 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Cryptorchidism, Protein-losing enteropathy, High palate, Abno... |
ORPHA:1655 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Vipoma |
|
Hypercalcemia, Malabsorption, Hematochezia, Neoplasm of the liver, Hypokalemia, Abnormal gastroin... |
ORPHA:97282 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Intestinal malrotation, Bicornuate uterus, Iris coloboma |
OMIM:222448 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Gastroesophageal reflux, Elevated circulating creatinine concentration, Increased blood urea nitr... |
OMIM:223900 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis |
OMIM:607143 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... |
OMIM:601346 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
OMIM:218030 |
Cystinosis |
|
Malabsorption, Hypokalemia, Aminoaciduria, Hypophosphatemia, Retinopathy |
ORPHA:213 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Intestinal duplication, Uterus didelphys |
ORPHA:1756 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2070 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Ovarian cyst, Hypophosphatemia |
ORPHA:249 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ... |
ORPHA:168558 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Hypocalcemia, Cystinuria |
OMIM:606407 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ... |
ORPHA:289548 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Testicular neoplasm, Hypercalcemia, Zollinger-Ellison syndrome, Esophagitis, Cervix... |
ORPHA:276152 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Aganglionic megacolon, Hypercalcemia, Abnormal tongue morphology, Neoplasm of ... |
ORPHA:653 |
Stromme Syndrome |
|
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, Retinal vascular t... |
OMIM:243605 |
Ppoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Intestinal carcinoid, Neoplas... |
ORPHA:97278 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Gracile Bone Dysplasia |
|
Aniridia, Micropenis, Ankyloglossia, Hypocalcemia |
OMIM:602361 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Micropenis, Bifid uvula, Hypocalcemic seizures |
OMIM:241410 |
Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fist... |
OMIM:300514 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Male pseudohermaphroditism, Hyperkalemia, Macroorchidism, Ab... |
ORPHA:90790 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Steatorrhea, Neoplasm of the ... |
ORPHA:97283 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Hypocalcemia, Malabsorption |
ORPHA:47 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Hypocalcemia |
OMIM:612462 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... |
ORPHA:94093 |
Grfoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Zollinger-Ellison syndrome, I... |
ORPHA:97261 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Abnormal gastrointestinal mot... |
ORPHA:97280 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Cleft palate, Anteriorly placed anus, Pigmentary re... |
OMIM:309801 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Cleft palate, Protein-losing enteropathy, High palate, Hypocalcemia, Micropenis, ... |
OMIM:235255 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Intestinal obstruction, Cryptorchidism, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Hypoalbuminemia, Protein-losing enteropathy |
ORPHA:79327 |
Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Hypocalcemia |
OMIM:259700 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Senior-Loken Syndrome 1 |
|
Retinal dystrophy, Elevated circulating creatinine concentration |
OMIM:266900 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cleft palate, Retinal neovascularization |
OMIM:619074 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Cleft palate |
OMIM:601076 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Precocious puberty, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Az... |
ORPHA:361 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased circulating 12-HETE, Gastric ulcer, Esophageal ulceration, Decreased se... |
OMIM:618372 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Ectopic... |
ORPHA:2059 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Fat malabsorption, Retinopathy |
ORPHA:71 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy, Hypocalcemia |
ORPHA:746 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... |
ORPHA:411634 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Submucous cleft hard palate, Hypocalcemia, Cleft palate |
ORPHA:3426 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Abnormal fallopian tube morphology, A... |
ORPHA:722 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Hypocalcemia |
OMIM:618476 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Cryptorchidism, Hyperkalemia |
ORPHA:97362 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... |
OMIM:617100 |
Prune Belly Syndrome |
|
Intestinal malrotation, Cryptorchidism, Urogenital sinus anomaly, Abnormality of the uterus, Volv... |
ORPHA:2970 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Chorioretinal coloboma, Dysphagia |
ORPHA:163961 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Malabsorption, Ileus, Abnormal blood ion concentration, Colitis, Hypoalbuminemia, Hypo... |
ORPHA:37042 |
Cholera |
|
Hyponatremia, Achlorhydria, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Cleft palate, Ambiguous genitalia, Cyclopia, Iris coloboma, Duodenal atresia |
ORPHA:280200 |
Esophageal Atresia |
|
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi... |
ORPHA:1199 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Optic atrophy, Decrease... |
ORPHA:96180 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abno... |
ORPHA:59315 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Velocardiofacial Syndrome |
|
Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, Hypocalc... |
OMIM:192430 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, Gastroesophagea... |
OMIM:164745 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen... |
ORPHA:439232 |
Oligomeganephronia |
|
Optic disc coloboma, Elevated circulating creatinine concentration |
ORPHA:2260 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Hypoalbuminemia, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hypoalbuminemia, Protein-losing enteropathy |
ORPHA:79319 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypocalcemi... |
ORPHA:247353 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Hypercalcemia, Peptic ulcer, Hematemesis, Melena, Zollinger-Ellison syndrome, Gas... |
ORPHA:652 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... |
OMIM:194072 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... |
ORPHA:83628 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Williams Syndrome |
|
Colonic diverticula, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated ... |
ORPHA:904 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Hypoplasia of the ovary |
OMIM:615300 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Ethylene Glycol Poisoning |
|
Gastritis, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Intestinal perforation, Hyperkalemia, Gastrointestinal infarctions, Hypocalcemia, I... |
ORPHA:544482 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Hypocalcemia, Steatorrhea |
OMIM:212750 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Cleft palate, High, narrow palate |
ORPHA:2714 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre... |
ORPHA:90794 |
Oeis Complex |
|
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... |
OMIM:258040 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Duplication Of Urethra |
|
Bifid scrotum, Clitoral hypertrophy, Hypospadias, Septate vagina, Rectourethral fistula, Epispadi... |
ORPHA:237 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Malabsorption, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalac... |
OMIM:227810 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Hypospadias, Cryptorchidism, Gastroesophageal reflux, Micr... |
ORPHA:464311 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus, Hiatus hernia |
OMIM:606408 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Esophageal varix, Steatorrhea, Hypercholesterol... |
ORPHA:275761 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Hypercalcemia, Retinal arteriolar tortuosity, Celiac disease, Rectal prolaps... |
OMIM:194050 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Pearson Syndrome |
|
Hypomagnesemia, Dysphagia, Steatorrhea, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypoph... |
ORPHA:699 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Retinal dystrophy, Bicornuate uterus, Labial hypoplasia, Macular dystrophy,... |
ORPHA:140952 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Duodenal atresia |
OMIM:617798 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... |
OMIM:137920 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Aganglionic megacolon, Hypocalcemia, Malabsorption |
ORPHA:175 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Ovarian Fibrothecoma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
ORPHA:320 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Cleft palate |
ORPHA:247768 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Elevated stool chloride content, Hypochloremia, Hypokalemia, Increased circulating ... |
OMIM:214700 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Pyloric stenosis, Papillary cystadenoma of the epididymis, Bico... |
ORPHA:93111 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Acholic stools, Steatorrhea, Fat malabsorption, Hypocholesterolemia |
OMIM:607765 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular ... |
ORPHA:93325 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Submucous cleft hard palate, Cleft palate, Gastroe... |
OMIM:301043 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Gardner Syndrome |
|
Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino... |
ORPHA:79665 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature pubarche, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambigu... |
ORPHA:90795 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration,... |
ORPHA:2785 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Duodenal ulcer |
OMIM:217090 |
Fanconi Anemia, Complementation Group W |
|
Duodenal atresia |
OMIM:617784 |
Duodenal Atresia |
|
Duodenal atresia |
ORPHA:1203 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Optic atrop... |
OMIM:619321 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi... |
OMIM:201750 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Attenuation of retinal blood vessels, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Cry... |
ORPHA:468631 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Elevated circulat... |
ORPHA:91500 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Anal atresia, Bifid uterus |
OMIM:617466 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Chorioretina... |
OMIM:115470 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Hypokalemia, Incre... |
OMIM:619377 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Optic atrophy, Furrowed tongue, Coloboma, High palate, Gastroesophag... |
OMIM:616975 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Aminoaciduria, Hypophospha... |
ORPHA:411629 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia |
ORPHA:3004 |
Cystinosis, Nephropathic |
|
Hyponatremia, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Generalized aminoac... |
OMIM:219800 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Pyloric stenosis, Hypoplasia of the uterus, Hypoplastic labia majora, Gonadal dysgenesis, Clitora... |
OMIM:618419 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Esophageal spasms, Decreased serum iron, Odynophagia, Dysphagia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79444 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Increased circulating renin ... |
OMIM:607364 |
Fryns Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Esophageal atresia, Cr... |
OMIM:229850 |
Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Micropenis, Bicornuate uterus, Cyclopia, Anal atresia, Median cleft lip and palate |
OMIM:264480 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Uterus didelphys, Bicornuate uterus,... |
ORPHA:958 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Hyperkalemia, Elevated circulating creatinine concentration, Melena, Hyperphosphatemia |
ORPHA:340 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Fat malabsorption, Hematochezia, Hyperbilirubinemia |
OMIM:214950 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hypospadias, Pyloric stenosis, Cryptorchidism, Gastroesophageal reflux, Microp... |
ORPHA:464306 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Congenital hypertrophy o... |
ORPHA:247806 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Retinal detachment, Duodenal ulcer |
OMIM:605822 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ambiguous genitalia, Micropenis, Duoden... |
OMIM:257300 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia... |
ORPHA:3440 |
Focal Dermal Hypoplasia |
|
Gastroesophageal reflux, Iris coloboma, Chorioretinal coloboma, Duodenal atresia |
ORPHA:2092 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Precocious puberty, Long penis, Furrowed tongue, Macroglossia, Hypokalemia, Hig... |
ORPHA:769 |
Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Retinal ... |
ORPHA:567 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Charge Syndrome |
|
Anal stenosis, Hypogonadotropic hypogonadism, External genital hypoplasia, Esophageal atresia, Cr... |
OMIM:214800 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Currarino Syndrome |
|
Anal stenosis, Septate vagina, Perianal abscess, Gastrointestinal obstruction, Bicornuate uterus,... |
OMIM:176450 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Hypercalcemia, Abnormal reproductive system morphology... |
ORPHA:797 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Aminoaciduria, Hypophosphatemia |
OMIM:134600 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Fat malabsorption |
OMIM:211600 |
Feingold Syndrome |
|
Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus |
ORPHA:2736 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia, Steato... |
ORPHA:79303 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia, Bifid uvula |
OMIM:616258 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Vaginal neoplasm, Cleft palate, Colon cancer, Ambiguous genitalia, Stomach ... |
ORPHA:1052 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism |
OMIM:103580 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Hyperbilirubinemia |
ORPHA:79302 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Congenital hypertrophy of retinal pigment epit... |
OMIM:175100 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, High palate, Remnants of the hyaloid vascular system, Gastroesophageal reflux |
OMIM:620185 |
Fg Syndrome Type 1 |
|
Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P... |
ORPHA:93932 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Rod-cone dystrophy,... |
ORPHA:14 |
Igg4-Related Thyroid Disease |
|
Sialadenitis, Hypocalcemia, Dysphagia |
ORPHA:64744 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona... |
OMIM:618820 |
Isotretinoin-Like Syndrome |
|
Gastroesophageal reflux, Hypocalcemia, Cleft palate |
ORPHA:2306 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Intestinal malrotation, Esophageal varix, High palate, Hypoalbuminemia, Hypocalcem... |
OMIM:613658 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia |
OMIM:191830 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:99826 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79443 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Shawl scrotum, Cryptorchidism, Tracheoesophageal fi... |
ORPHA:2745 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Optic disc hypoplasia, Adenomatous colonic polyposis, Congenital hypertrophy ... |
ORPHA:261584 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Celiac disease, Hyperlipidemia, Gastrointestinal dysmotility, Hyperkalemia |
ORPHA:293987 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Cleft palate, Hypocalcemia, Hyperbilirubinemia, Micropenis |
ORPHA:163979 |
Craniofacioskeletal Syndrome |
|
Cryptorchidism, Hypospadias, Hypocalcemia, Cleft palate |
OMIM:300712 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Hypoalbuminemia, Gastroesophageal ref... |
OMIM:270400 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Microphallus, Duodenal atresia |
OMIM:603467 |
Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Sex reversal |
ORPHA:139466 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T... |
OMIM:107480 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate,... |
OMIM:265380 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft palate |
OMIM:603671 |
Sotos Syndrome |
|
Aganglionic megacolon, Hypercalcemia, Hypospadias, Phimosis, Cryptorchidism, Hydrocele testis, Ga... |
ORPHA:821 |
Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Jacobsen Syndrome |
|
Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Abnormality of the anus, Ectopic anus, ... |
ORPHA:2308 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Fanconi Anemia |
|
Aganglionic megacolon, Hypospadias, Abnormal preputium morphology, Aplasia/Hypoplasia of the uvul... |
ORPHA:84 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Anal atresia, Clitora... |
OMIM:300707 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Hennekam Syndrome |
|
Pyloric stenosis, Hypocalcemia, Malabsorption |
ORPHA:2136 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Congenital... |
ORPHA:733 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, High palate, Retinal dystrophy, Hypocalcemia |
OMIM:218330 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormal optic n... |
ORPHA:637 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Duodenal atresia |
OMIM:614114 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration... |
OMIM:619381 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Rectal prolapse, Narrow palate, Hypoalbuminemia, Protein-losing enteropathy, Inte... |
OMIM:235510 |
Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Cleft palate, Duodenal atresia |
OMIM:247200 |
Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... |
OMIM:119500 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, High palate |
OMIM:615866 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Chronic gastritis, Hypospadias, Elevated circulating alpha-fetoprotein concentratio... |
OMIM:619991 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Elevated circulating creatinine concentration |
ORPHA:93126 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Duodenal stenosis |
ORPHA:2470 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphys, Cleft palate, Mic... |
OMIM:617925 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, High, narrow palate, Esophageal atresia, Pyloric stenosis, Micropenis,... |
ORPHA:96149 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
Feingold Syndrome 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... |
ORPHA:109 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Absent external genitalia, Bilateral cryptorchidism, Cleft palate, Hypoplastic lab... |
OMIM:263650 |
Nelson Syndrome |
|
Hypokalemia, Optic nerve compression, Testicular neoplasm |
ORPHA:199244 |
Helix Syndrome |
|
Xerostomia, Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Intestinal malrotation, Cryptorchidism, Cleft palate, High palate, Abnormali... |
ORPHA:99776 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Leprechaunism |
|
Enlarged ovaries, Overgrowth of external genitalia, Rectal prolapse, Long penis, Labial hypertrop... |
ORPHA:508 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Endometriosis, Velopharyngeal insufficiency, Micropenis, Anal atresia |
ORPHA:363444 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Alg9-Cdg |
|
Villous atrophy, Bicornuate uterus, Gastroesophageal reflux, Hypoplasia of the ovary, Bifid uvula |
ORPHA:79328 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Hypoplasia of the uterus, Abnorma... |
ORPHA:3464 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Clitoral hypertrophy, Hypospadias, Increased VLDL cholesterol concentration,... |
OMIM:243800 |
Acrorenal-Mandibular Syndrome |
|
Uterus didelphys, Narrow palate, Bicornuate uterus, High palate, Unicornuate uterus |
OMIM:200980 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Recurrent infection of the gastrointestinal tract, Malabsorption |
ORPHA:83471 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
Beaulieu-Boycott-Innes Syndrome |
|
Velopharyngeal insufficiency, Endometriosis |
OMIM:613680 |
Tarp Syndrome |
|
Cryptorchidism, Optic atrophy, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue n... |
ORPHA:2886 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Pagod Syndrome |
|
Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of ... |
ORPHA:991 |
Immunodeficiency 87 And Autoimmunity |
|
Villous atrophy, Hypertriglyceridemia, Atrophic gastritis, Necrotizing enterocolitis, Elevated ci... |
OMIM:619573 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Optic nerve hypoplasia, High palate, Hypocalcemia, Bifid uvula |
OMIM:620330 |
Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Bifid uterus, Epispadias... |
ORPHA:322 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Bicarbonaturia, Coloboma, Hypokalemia, Aminoaciduria |
ORPHA:47159 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, High palate, Bifid uterus |
ORPHA:1521 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Fraser Syndrome |
|
Anal stenosis, Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Abnormal vagina m... |
ORPHA:2052 |
Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Ectopic anus, Abnormality of the uterus, A... |
ORPHA:3138 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... |
OMIM:300166 |
46,Xx Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus |
ORPHA:243 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Malabsorption, Cryptorchidism, Narrow palat... |
ORPHA:534 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Decreased... |
ORPHA:3337 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus |
OMIM:601186 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:449395 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Cleft palate, Bicornuate uterus... |
OMIM:219000 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Retinal detachment, Gastritis, Hematemesis, Enterocolitis, Retinal a... |
ORPHA:73263 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, High palate |
OMIM:110100 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, High palate, Microp... |
ORPHA:284339 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Macroglossia, Bic... |
OMIM:269150 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Cyclopia, Submucous cleft hard palate, Bilateral cleft l... |
OMIM:157170 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, High palate, Cleft palate |
OMIM:170390 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Malabsorption |
ORPHA:289176 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Bifid uterus, Cleft pala... |
ORPHA:2729 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High palate, Aplasia of the uterus, Unicornu... |
OMIM:614527 |
Yellow Fever |
|
Hematemesis, Elevated circulating creatinine concentration, Elevated circulating creatine kinase ... |
ORPHA:99829 |
Meckel Syndrome, Type 1 |
|
Intestinal malrotation, External genital hypoplasia, Cryptorchidism, Ambiguous genitalia, female,... |
OMIM:249000 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Retinal detachment, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High pal... |
OMIM:601776 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Hypospadias, Duodenal atresia |
OMIM:618846 |
Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Oligozoospermia, Hypokalemia, Ambiguous genitalia, Female pseudohermaphroditism |
ORPHA:786 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Hypomagnesemia, Cryptorchidism, Esophageal varix, High palate, Hypocalcemia, D... |
OMIM:619503 |
Peters Plus Syndrome |
|
Intestinal fistula, Hypospadias, Cryptorchidism, Optic atrophy, Cleft palate, Hypoplasia of the u... |
ORPHA:709 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Acrofacial Dysostosis 1, Nager Type |
|
Velopharyngeal insufficiency, Bicornuate uterus, Aganglionic megacolon, Cleft palate |
OMIM:154400 |
Whim Syndrome |
|
Cervix cancer, Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Ulnar-Mammary Syndrome |
|
Anal stenosis, Small scrotum, Pyloric stenosis, Bicornuate uterus, Shawl scrotum, Micropenis, Imp... |
OMIM:181450 |
Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Gastric ulcer,... |
OMIM:135900 |
Meacham Syndrome |
|
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina |
OMIM:608978 |
Adrenocortical Carcinoma |
|
Hypokalemia |
ORPHA:1501 |
Digeorge Syndrome |
|
High, narrow palate, Cleft palate, Hydrocele testis, Ovarian cyst, High palate, Hypocalcemia, Gas... |
OMIM:188400 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Cleft palate, Anteriorly placed anus, Hypo... |
OMIM:261540 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Anal atresia, Duodenal atresia |
OMIM:306955 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Gastroesophageal reflux |
OMIM:618426 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Gastrointestinal hemorrhage, Esophageal varix, Protein-losing e... |
ORPHA:731 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, High, narrow palate, Cryptorchidism, Cystocele, Hypokalemia, Gastrointestinal infarc... |
ORPHA:286 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Aplasia of the uterus, Micropenis, A... |
OMIM:614083 |
Microsporidiosis |
|
Prostatitis, Glossitis, Abnormal endometrium morphology, Abnormal fallopian tube morphology |
ORPHA:2552 |
Iniencephaly |
|
Anal atresia, Duodenal atresia |
ORPHA:63259 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Acholic stools, Fat malabsorption |
ORPHA:30391 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Furrowed tongue, H... |
ORPHA:201 |
Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Submucous cleft ha... |
OMIM:619539 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, High, narrow palate, Cryptorchidism, Tracheoesophageal fistula, Cleft palate... |
ORPHA:2879 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Uterus didelphys... |
ORPHA:93271 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Decreased serum iron, Precocious puberty, Cryptorchidism, Gastroesophageal ref... |
ORPHA:438213 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Anteriorl... |
ORPHA:857 |
Acrofacial Dysostosis, Rodríguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Aplasia of the vagina, Anal atresia, Absent external genitalia |
OMIM:271520 |
Renal Agenesis |
|
Absent vas deferens, Anal atresia, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Cleft palate, Bifid uterus |
OMIM:256520 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Cleft palate |
ORPHA:3320 |
Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Duodenal atresia |
OMIM:270100 |
Loeys-Dietz Syndrome |
|
High palate, Bifid uvula, Uterine rupture |
ORPHA:60030 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Cleft palate, Bifid uterus |
OMIM:236680 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Distal Renal Tubular Acidosis |
|
Hypokalemia, Aminoaciduria |
ORPHA:18 |
Tsh-Secreting Pituitary Adenoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Hypokalemia, Hypogonadism, Male hypogonadism |
ORPHA:91347 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Xerostomia, Bicornuate uterus, Dysphagia, Abnormal salivary gland morphology, Bif... |
ORPHA:2363 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... |
ORPHA:2232 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cleft palate, Coloboma, Bicornuat... |
OMIM:268300 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Cleft... |
ORPHA:199 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Meckel diverticulum, Cleft palate |
OMIM:274000 |
Scorpion Envenomation |
|
Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase... |
ORPHA:466677 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft palate, Aplasia of the uterus, Aplasia of the ovary, Submucous cleft sof... |
ORPHA:69085 |
Classical Ehlers-Danlos Syndrome |
|
Hiatus hernia, Rectal prolapse, Cervical insufficiency, Gastroesophageal reflux, Uterine prolapse |
ORPHA:287 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Gastro... |
OMIM:194190 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Aplasia of the ... |
OMIM:618280 |
Genitopatellar Syndrome |
|
Anal stenosis, Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Malrot... |
OMIM:606170 |
Coffin-Lowry Syndrome |
|
Uterine prolapse, Rectal prolapse, High palate, Narrow palate |
OMIM:303600 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse, High palate, Bifid uvula, Cleft palate |
ORPHA:284984 |
Loeys-Dietz Syndrome 3 |
|
Eosinophilic infiltration of the esophagus, Cystocele, Cleft palate, High palate, Uterine prolaps... |
OMIM:613795 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... |
OMIM:276820 |
Pallister-Killian Syndrome |
|
Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, ... |
OMIM:601803 |