Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... |
OMIM:614493 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia |
OMIM:608898 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... |
OMIM:144300 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre... |
OMIM:300400 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... |
OMIM:613101 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Sensorineural hearing impairment, Hypoproteinemia |
OMIM:221400 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... |
OMIM:308240 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, H... |
OMIM:613090 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Sensorineural hearing impairment, Hypercalcemia |
ORPHA:2668 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, H... |
OMIM:602522 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Low-set ears, Hypercalcemia |
OMIM:614732 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor... |
ORPHA:64753 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop... |
OMIM:615559 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Protruding ear, Increased circulating renin level, Hyponatremia, Hyp... |
ORPHA:89938 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Tremor, Hyperlysinuria, Abnormality of... |
ORPHA:3124 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Growth Hormone Insensitivity Syndrome |
|
Hearing impairment, Hypercholesterolemia |
ORPHA:181393 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Low-set, posteriorly rotated ears, Cystinuria |
ORPHA:163693 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Temple Syndrome |
|
Hypertriglyceridemia, Posteriorly rotated ears, Hypercholesterolemia |
OMIM:616222 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc... |
OMIM:616050 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Hypercholesterolemia... |
OMIM:208920 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Non-Functioning Paraganglioma |
|
Tremor, Pulsatile tinnitus, Conductive hearing impairment, Hypercalcemia |
ORPHA:94080 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Oculocerebrodental Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hypocalcemia, Hypercalcemia, Hea... |
ORPHA:557003 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hearing impairment, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Bartter Syndrome, Type 2, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Macrotia, Increased serum prostag... |
OMIM:241200 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Morgagni-Stewart-Morel Syndrome |
|
Action tremor, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia |
OMIM:608093 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hearing impairment, Elevated circulating creatinine concentration |
OMIM:616733 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Tremor, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea |
OMIM:615767 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Ring Chromosome 10 Syndrome |
|
Abnormal antihelix morphology, Low-set ears, Hypocalcemia, Large earlobe |
ORPHA:1438 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Immunodeficiency 70 |
|
Colitis, Recurrent sinusitis, Furuncle, Achalasia, Celiac disease |
OMIM:618969 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
46,Xy Sex Reversal 4 |
|
Sensorineural hearing impairment, Elevated circulating creatinine concentration, Increased blood ... |
OMIM:154230 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Bilateral conductive hearing impairment, Hypercalcemia |
OMIM:602080 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis |
OMIM:604416 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Oculoskeletodental Syndrome |
|
Hearing impairment, Hypocalcemia, Hypercalcemia |
OMIM:618440 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Aminoaciduria, Hypercalcemia |
OMIM:239200 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Galactokinase Deficiency |
|
Sensorineural hearing impairment, Increased level of galactitol in plasma, Hypergalactosemia, Hyp... |
ORPHA:79237 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hearing impairment, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Dystonia, Hypercholes... |
OMIM:277460 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... |
OMIM:618108 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Dystonia, Hyperuricemia |
ORPHA:79233 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Pulsatile tinnitus, Conductive hearing impairment, Hypercalcemia |
ORPHA:276621 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys... |
OMIM:608809 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Morphological abnormality of the middle ear, Hearing impairment, Hyperchole... |
OMIM:182290 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Posteriorly rotated ears, Cystinuria, Macrotia |
OMIM:606407 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis |
OMIM:618394 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Low-set ears, Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Monosomy 13Q34 |
|
Infantile hypercalcemia, Posteriorly rotated ears, Abnormal earlobe morphology |
ORPHA:96168 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Hyperuricemia |
OMIM:308950 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, Hyperurice... |
ORPHA:95409 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Reduced natural killer cell activity, Decreased circulating antib... |
ORPHA:540 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:301000 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Low-set ears, Posteriorly rotated ears, Hypocalcemic seizures |
OMIM:241410 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:613412 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Hyperuricemia |
ORPHA:199299 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Low-set ears |
OMIM:618183 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Reduced nat... |
OMIM:608233 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hypochloremia, Hyponatremia |
ORPHA:90794 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Hypercalcemia |
ORPHA:476126 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Feeding difficulti... |
ORPHA:411696 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Low-set ears, Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Johanson-Blizzard Syndrome |
|
Sensorineural hearing impairment, Hypoproteinemia |
ORPHA:2315 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Pulsatile tinnitus, Conductive hearing impairment, Hypercalcemia |
ORPHA:29072 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea |
OMIM:614602 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... |
OMIM:210250 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Overfolded helix, Eleva... |
OMIM:608836 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Addison Disease |
|
Decreased circulating cortisol level, Increased circulating renin level, Hyponatremia, Hyperurice... |
ORPHA:85138 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Viral hepatitis, Villous atrophy, Protracted diarrhea, Chronic mucocutane... |
OMIM:209920 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Increased blood urea nitrogen, Tremor, Macrotia, Hearing imp... |
ORPHA:90321 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ile... |
OMIM:243150 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Conductive hearing impairment, Decreased HDL cholesterol concentration, Decreased serum creatinin... |
OMIM:618885 |
Megalocornea-Mental Retardation Syndrome |
|
Large fleshy ears, Cupped ear, Hypercholesterolemia |
OMIM:249310 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Hypoproteinemia |
OMIM:615895 |
Albers-Schönberg Osteopetrosis |
|
Hearing impairment, Hypocalcemia |
ORPHA:53 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting |
OMIM:616809 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Hypercholesterolemia |
ORPHA:2479 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Low-set ears, Hearing impairment, Hypercalcemia |
ORPHA:369837 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Fibrous Dysplasia Of Bone |
|
Hearing impairment, Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Colitis, Abdominal pain, Skin rash, Diarrhea, Inflammation of the large intest... |
OMIM:301074 |
Immunodeficiency 58 |
|
Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, Helicobacter pylori infection, Alle... |
OMIM:618131 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent otitis media, Colitis, Conjunctivitis, Atrophic gastritis, Inflammation of the large in... |
OMIM:614700 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hypocalcemia, Hyperphosphatemia, External ear malformation |
ORPHA:2323 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... |
OMIM:106300 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia |
ORPHA:88673 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Hypocalcemia |
OMIM:607143 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula... |
ORPHA:411634 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Conductive hearing impairment, Hypercholesterolemia |
ORPHA:819 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Oculogyric crisis, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:370 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Tremor, Hypo... |
ORPHA:167 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:79240 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Colitis, Recurrent infection of the gastrointestinal tract, ... |
ORPHA:911 |
Autoimmune Hepatitis |
|
Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant hepa... |
ORPHA:2137 |
Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Argininuria, Increased LDL cholesterol concentratio... |
ORPHA:470 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Malabsorption, Eczematoid derm... |
ORPHA:37042 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Ppoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97278 |
X-Linked Agammaglobulinemia |
|
Sensorineural hearing impairment, Hypocalcemia |
ORPHA:47 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Bloody diarrhea, Paralytic ileus, Acute colitis, Abdomi... |
ORPHA:810 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97282 |
Somatostatinoma |
|
Increased circulating cortisol level, Hypercalcemia, Steatorrhea |
ORPHA:97283 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:264580 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypomagnesemia, Oculogyric crisis, Abnormal circulating neopterin concentration, Tremor, Hyperphe... |
ORPHA:1578 |
Pyoderma Gangrenosum |
|
Myositis, Rheumatoid arthritis, Pustule, Inflammation of the large intestine |
ORPHA:48104 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... |
ORPHA:36234 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Enterocolitis, Abdominal pain, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... |
ORPHA:324964 |
Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Recurrent pneumonia, Perianal abscess... |
OMIM:618935 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, E... |
ORPHA:85450 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:913 |
Glucagonoma |
|
Increased circulating cortisol level, Hypercalcemia, Steatorrhea |
ORPHA:97280 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia, Eosinophilic liver infiltration |
OMIM:618999 |
Grfoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97261 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o... |
ORPHA:67 |
Sapho Syndrome |
|
Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk... |
ORPHA:793 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hearing impairment, Hypocalcemia |
OMIM:259700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Elevated circulating creatinine concentration |
OMIM:617478 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Double Outlet Right Ventricle |
|
Hypocalcemia, Abnormality of cartilage of external ear |
ORPHA:3426 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Immunodeficiency 97 With Autoinflammation |
|
Colitis, Enterocolitis, Abdominal pain, Recurrent skin infections, Eczema, Diarrhea, Recurrent ot... |
OMIM:619802 |
Zygomycosis |
|
Melena, Pancreatitis, Unusual gastrointestinal infection, Gastritis, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:276152 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Oligomeganephronia |
|
Hearing impairment, Elevated circulating creatinine concentration |
ORPHA:2260 |
Hermansky-Pudlak Syndrome 1 |
|
Colitis, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:203300 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... |
ORPHA:90038 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hyperaldosteronism, Hypocalcemic tetany |
ORPHA:73224 |
Immunodeficiency 47 |
|
Sensorineural hearing impairment, Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemi... |
ORPHA:79444 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:301220 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... |
OMIM:619991 |
Papillorenal Syndrome |
|
Sensorineural hearing impairment, Elevated circulating creatinine concentration |
OMIM:120330 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decrea... |
ORPHA:447 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Hyperkalemia |
ORPHA:275761 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Pseudohypoparathyroidism Type 1A |
|
Sensorineural hearing impairment, Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Choreoat... |
ORPHA:79443 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... |
ORPHA:309031 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, Pneumonia, Colitis, Osteomyelitis, Arthritis, Villous atrophy, Hep... |
OMIM:619381 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Hematemesis, Feeding difficulties, Hiatus hernia, Episodic vomiting, Eso... |
ORPHA:71272 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia, Posteriorly rotated ears, Microtia |
OMIM:300712 |
Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Ulcerative colitis |
ORPHA:555905 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine |
OMIM:617718 |
Williams Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Abnormal circulating lipid concentration, Eleva... |
ORPHA:904 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Bicarbonaturia, Hypercholesterolemia, Elevated maternal serum alpha-fetoprotein, E... |
OMIM:309000 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Posteriorly rotated ears, Hyperbilirubinemia, Microtia |
ORPHA:163979 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Episodic vomiting, Gastroesophageal reflux |
OMIM:201475 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Pancreatitis, Recurrent pancreatitis |
OMIM:615947 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia |
ORPHA:79259 |
Multiple Endocrine Neoplasia Type 1 |
|
Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level |
ORPHA:652 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Steatorrhea |
OMIM:212750 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Esophageal varix, Chronic diarrhea, Inflammation of the large intestine |
OMIM:614576 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine... |
ORPHA:2908 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Progressive sensorineural hearing impairment |
ORPHA:2237 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Oculocerebrorenal Syndrome Of Lowe |
|
Protruding ear, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hypoammonemia, Low-set, posteriorly... |
ORPHA:534 |
Alport Syndrome 3, Autosomal Dominant |
|
Sensorineural hearing impairment, Azotemia, Hypophosphatemia |
OMIM:104200 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Osteopetrosis With Renal Tubular Acidosis |
|
Conductive hearing impairment, Elevated circulating creatine kinase concentration, Macrotia, Hypo... |
ORPHA:2785 |
Visceral Steatosis, Congenital |
|
Hypocalcemia |
OMIM:228100 |
Reactive Arthritis |
|
Osteomyelitis, Pustule, Abdominal pain, Diarrhea, Inflammation of the large intestine, Arthritis,... |
ORPHA:29207 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Hearing impairment, Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99826 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Low-set ears, Macrotia, Hypercholesterolemia |
OMIM:118450 |
Sepsis In Premature Infants |
|
Decreased liver function, Abdominal distention, Enterocolitis, Diarrhea, Vomiting, Gastrointestin... |
ORPHA:90051 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abdominal cramps, Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, ... |
ORPHA:544482 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Low-set, posteriorly rotated ears, Macrotia |
ORPHA:175 |
Sweet Syndrome |
|
Oligoarthritis, Pustule, Acne inversa, Myositis, Inflammation of the large intestine, Acne, Predo... |
ORPHA:3243 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Esophageal carcinoma, Vill... |
ORPHA:391487 |
Idiopathic Hypereosinophilic Syndrome |
|
Malabsorption, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Abdominal pain, Abdom... |
ORPHA:3260 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Intestinal atresia, Inflammation of the large intestine, Bronchiectasis, Dysphagia, Absent uvula,... |
OMIM:619708 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Thymoma |
|
Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Ulcerative colitis, Glome... |
ORPHA:99867 |
Hennekam Syndrome |
|
Conductive hearing impairment, Low-set ears, Hypocalcemia, External ear malformation |
ORPHA:2136 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Steatorrhea, Hyperalaninemia, Hearin... |
ORPHA:699 |
Juvenile Polyposis Syndrome |
|
Low-set ears, Hypoproteinemia |
ORPHA:2929 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
Cocaine Intoxication |
|
Bloody diarrhea, Colitis, Abdominal pain, Vomiting, Tubulointerstitial nephritis, Nausea, Glomeru... |
ORPHA:90068 |
Williams-Beuren Syndrome |
|
Large earlobe, Sensorineural hearing impairment, Hypercalcemia |
OMIM:194050 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Eosinophilic infiltration of the esophagus, Pancolitis, Perianal abscess, Anoper... |
OMIM:618213 |
Plague |
|
Bloody diarrhea, Enterocolitis, Abdominal pain, Hematemesis, Anorexia, Skin rash, Lymphadenitis, ... |
ORPHA:707 |
Lipodystrophy, Familial Partial, Type 7 |
|
Tinnitus, Hypertriglyceridemia, Low-set ears, Hypercholesterolemia |
OMIM:606721 |
Sotos Syndrome |
|
Conductive hearing impairment, Cholesteatoma, Tremor, Hypercalcemia, Hearing impairment |
ORPHA:821 |
Cranioectodermal Dysplasia 1 |
|
Low-set ears, Hypocalcemia, Protruding ear |
OMIM:218330 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:449395 |
Yellow Fever |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:99829 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Tinnitus, Primary hyperaldosteronism, Hypermagnesemia |
ORPHA:358 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Sclerosing cholangitis, Inflammation of the large intestine, Ulcerative colitis, Granulomatous ch... |
ORPHA:562639 |
Syndromic Diarrhea |
|
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... |
ORPHA:84064 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Gastritis, Panniculitis, Hepatocellular carcinoma, Arthritis, Hepatitis, Uveitis, Recurr... |
ORPHA:3261 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Protruding ear, Hyperbilirubinemia, Hearing impairm... |
OMIM:619534 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Pancreatitis, Adenocarcinoma of the large intest... |
ORPHA:171 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:613658 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Protuberant ab... |
OMIM:232220 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Blepharitis, Sinusitis, Hematemesis, Otitis media, Eczema, Chronic otitis media, Infla... |
ORPHA:906 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
22Q11.2 Deletion Syndrome |
|
Conductive hearing impairment, Hypocalcemia, Overfolded helix, Small earlobe, Hearing impairment,... |
ORPHA:567 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Otitis media, Eczema, Diarrhea, Inflammation of the large intestine, Pneumonia |
OMIM:600903 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91500 |
Frontometaphyseal Dysplasia 2 |
|
High palate, Gastroesophageal reflux, Cleft palate, Bifid uvula, Feeding difficulties in infancy,... |
OMIM:617137 |
Immunodeficiency 87 And Autoimmunity |
|
Increased fecal calprotectin level, Feeding difficulties, Cleft palate, Necrotizing enterocolitis... |
OMIM:619573 |
Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Charge Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Hypocalcemia, Aplasia of the semicircular canal, ... |
OMIM:214800 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Anorexia, Inflammation of the large intestine, Abnormal salivary gland morphology,... |
OMIM:181000 |
Digeorge Syndrome |
|
Low-set ears, Hypocalcemia |
OMIM:188400 |
Johanson-Blizzard Syndrome |
|
Sensorineural hearing impairment, Increased VLDL cholesterol concentration, Hypocalcemia |
OMIM:243800 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Hypomagnesemia, Hypocalcemia, Macrotia |
OMIM:619503 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... |
ORPHA:99413 |
Turner Syndrome |
|
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... |
ORPHA:881 |
Mosaic Monosomy X |
|
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... |
ORPHA:99228 |
Monosomy X |
|
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... |
ORPHA:99226 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Inflammation of the large intestine |
ORPHA:70591 |
Mowat-Wilson Syndrome |
|
Constipation, Enterocolitis, Cleft palate, Dependency on intravenous nutrition, Submucous cleft o... |
ORPHA:2152 |