| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Chronic mucocutaneous can... |
ORPHA:3453 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, J... |
OMIM:243150 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Recurrent viral infections, Respiratory tract infection, Severe ... |
OMIM:615897 |
| Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... |
ORPHA:97282 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
| Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tu... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tu... |
ORPHA:100082 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Decreased activity of mitochondrial complex IV, Adrenal insufficiency |
OMIM:619025 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... |
ORPHA:2070 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, P... |
OMIM:608709 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large for gestational age, Episod... |
ORPHA:324575 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Cachexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hypoglycemic seizures, Fast... |
ORPHA:276580 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... |
OMIM:193670 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Episodic hyperhidrosis, Hypoglycemic seizures, Fasting hypoglycemia, E... |
ORPHA:276575 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:613812 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... |
OMIM:240500 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating... |
ORPHA:90790 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Pa... |
ORPHA:79076 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidros... |
ORPHA:276556 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial infections |
OMIM:245480 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Ataxia, Reduced intraabd... |
ORPHA:363400 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Chori... |
OMIM:277175 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infect... |
OMIM:300635 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... |
OMIM:618183 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent... |
ORPHA:79095 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... |
OMIM:614699 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... |
ORPHA:540 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Small for gestational age, Pne... |
ORPHA:26793 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Recurrent vira... |
OMIM:209920 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Eth... |
ORPHA:26792 |
| Secondary Short Bowel Syndrome |
|
Villous atrophy, Low plasma citrulline, Abnormal blood ion concentration, Sepsis, Vomiting, Abnor... |
ORPHA:95427 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Generalized aminoacidu... |
OMIM:606528 |
| Acute Lung Injury |
|
Shock, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated... |
ORPHA:178320 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Cerebral hemorrhage, Dif... |
ORPHA:464321 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
| Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
| Epidermolysis Bullosa Acquisita |
|
Atypical scarring of skin, Inflammation of the large intestine, Diabetes mellitus, Abdominal pain |
ORPHA:46487 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... |
ORPHA:2298 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Chilblains,... |
OMIM:615846 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... |
OMIM:617006 |
| Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... |
ORPHA:157794 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Tremor, Decreased circulating antibody level, Atrial septal defect, Recurr... |
OMIM:617744 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Lipoatrophy, Proteinuria, Insulin resistance, Lymphocytosis, Microscopic hematuri... |
ORPHA:79087 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Sepsis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Hypopl... |
ORPHA:906 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Apnea, Hypoglycemia, Elevated circulating aspartat... |
OMIM:619048 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Sepsis, Recurrent candida infections, Inflammation of the large intestine, De... |
ORPHA:436159 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Soft tissue neoplasm, Vaginal neoplasm, Reduced C-p... |
ORPHA:2126 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:619707 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... |
OMIM:607594 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... |
ORPHA:2198 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
| Laryngeal Neuroendocrine Tumor |
|
Neoplasm of the larynx, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, ... |
ORPHA:100083 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
| Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... |
OMIM:618944 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Gait disturbance |
OMIM:618400 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Attention deficit hyperacti... |
ORPHA:369873 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephri... |
ORPHA:37042 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Recurrent mycobacterial infections, Invasive fungal infection, Inc... |
ORPHA:98813 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Mucoid diarrhea, Increased cir... |
OMIM:615767 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Monosomy 13Q34 |
|
Hypercalcemia, Epistaxis, Insulin resistance, Fetal pyelectasis, Obesity, Hematochezia, Prolonged... |
ORPHA:96168 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone concentration, Az... |
OMIM:108420 |
| Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Immunodeficiency 62 |
|
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc... |
OMIM:618459 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, B-cell lymphoma, Anorexia, Splenomegaly, Weight loss |
ORPHA:52416 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Sepsis, Abnormal... |
ORPHA:70578 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... |
OMIM:613496 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pneumo... |
OMIM:300400 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Increased mitochondrial number, Decreased activity of mitochond... |
OMIM:619063 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
| Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level |
ORPHA:169079 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy |
OMIM:602541 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Impaired T cell function, Elevated circulating creatine kinase concentration, Inflammation of the... |
OMIM:614576 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Lipodystrop... |
ORPHA:528 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:243700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... |
OMIM:613101 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatic failure, Elevat... |
OMIM:617872 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Vasculitis... |
OMIM:617718 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Epistaxis, Abdominal pain, Hematochezia, Cardiomyop... |
OMIM:203300 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... |
OMIM:301045 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Malabsorption, Diarrhea, Sepsis, Weight loss, Decrea... |
ORPHA:33355 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abdominal pain, Abnormal gastr... |
ORPHA:263665 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... |
OMIM:618131 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea |
OMIM:619398 |
| 5-Oxoprolinase Deficiency |
|
Calcium oxalate nephrolithiasis, Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-py... |
OMIM:260005 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Bowel urgency, Ab... |
ORPHA:100080 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Decreased activity of mitochondrial complex I, Adrenal insufficiency |
OMIM:618238 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... |
OMIM:615139 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... |
ORPHA:179494 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... |
OMIM:609529 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
| Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Atypi... |
ORPHA:100075 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
OMIM:151660 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... |
ORPHA:264580 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Decreased serum leptin, Recurrent upper respiratory tract infections, R... |
OMIM:614962 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea, Decreased circulatin... |
OMIM:619281 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... |
ORPHA:572 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Reactive hy... |
OMIM:600955 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
| Idiopathic Achalasia |
|
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurr... |
ORPHA:930 |
| Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... |
ORPHA:69663 |
| Spermatogenic Failure 77 |
|
Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulating testosterone co... |
OMIM:620103 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... |
ORPHA:276 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiec... |
OMIM:618282 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Failure to thrive, Increased circulating free fatty acid level, Hypoketotic hypoglycemia |
OMIM:610768 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natura... |
OMIM:616050 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Weight loss, Feeding difficulties, Aspiration ... |
ORPHA:141152 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Sepsis, Bloody diarrhea, Para... |
ORPHA:810 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria... |
ORPHA:369 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Diabetes mellitus, Hy... |
ORPHA:2348 |
| Immunodeficiency 37 |
|
Recurrent infections, Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... |
ORPHA:652 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative co... |
OMIM:618394 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... |
OMIM:308230 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
| Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditi... |
OMIM:158350 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Necrotizing enterocolitis, Inguinal hernia, Elevated circulating creatine kinase... |
OMIM:616809 |
| D-Glyceric Aciduria |
|
Hyperglycinemia, Hyperglycinuria, Nonketotic hyperglycinemia, Increased circulating free fatty ac... |
ORPHA:941 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:620210 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections |
OMIM:610798 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Overweight, High, narrow palate, Head-banging, Feeding difficul... |
OMIM:619575 |
| Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Neonatal a... |
ORPHA:79237 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:79083 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
ORPHA:90003 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Hepatospl... |
OMIM:619013 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ulcerative colit... |
OMIM:617638 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:203800 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemi... |
OMIM:276700 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Recurrent respiratory infections, Abnormal mitochondrial shape, Decreased activity of mitochondri... |
ORPHA:17 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Proteinuria, Insulin-resista... |
ORPHA:79086 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Recurr... |
ORPHA:47 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase c... |
OMIM:212140 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Lymphoproliferative disorder, Pneumonia, Skin rash, Recurren... |
ORPHA:911 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Villous atrophy, Functional abnormality of the bladder, In... |
ORPHA:391487 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... |
OMIM:614602 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Decreased response to growth hormone... |
OMIM:615577 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolactin level, Elevated ... |
OMIM:615842 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
| Familial Pancreatic Carcinoma |
|
Intestinal pseudo-obstruction, Anorexia, Poor appetite, Peritoneal abscess, Pancreatic adenocarci... |
ORPHA:1333 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weig... |
ORPHA:26790 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
| Neuronal Intestinal Pseudoobstruction |
|
Abnormal cardiac septum morphology, Recurrent infections, Decreased circulating antibody level |
ORPHA:99811 |
| Autoimmune Hepatitis |
|
Spider hemangioma, Fulminant hepatitis, Increased circulating IgG level, Inflammation of the larg... |
ORPHA:2137 |
| Familial Colorectal Cancer Type X |
|
Abnormal circulating creatine concentration, Flexion contracture, Neoplasm of the breast, Stomach... |
ORPHA:440437 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Apnea, Elevated circulating growth hormone concentration, Large for gestational age, A... |
ORPHA:79644 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Right ... |
OMIM:619705 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... |
ORPHA:319218 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
| Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... |
ORPHA:101330 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of... |
ORPHA:171 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis... |
ORPHA:83471 |
| Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Colitis, Recurrent bronchio... |
OMIM:619164 |
| Syndromic Diarrhea |
|
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He... |
ORPHA:84064 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Hypoa... |
ORPHA:79319 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... |
OMIM:222100 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Poor suc... |
OMIM:615547 |
| Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac... |
OMIM:616636 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, D... |
ORPHA:3261 |
| Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, ... |
ORPHA:388 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Knee flex... |
OMIM:604416 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... |
OMIM:201475 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
| Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Hypertriglyceridemia, Rec... |
OMIM:619802 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis... |
ORPHA:228308 |
| Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97283 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent herpes, Bronchitis, Sepsis, Pulmonary tuberculosis, Decreased circulating IgG level, Re... |
ORPHA:183675 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar... |
ORPHA:544482 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:606407 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Elevated circula... |
OMIM:618805 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:618987 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:619824 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Anorexia, Weight loss |
ORPHA:2023 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Hypergonadotropic hypogonadism, Recurrent infections |
ORPHA:352447 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Pneumonia, Recurrent pneumonia, Recurrent candida infections, Recurrent infecti... |
ORPHA:169160 |
| Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Hyperhidrosis, Intracranial hemorrhage... |
ORPHA:340 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Apnea, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine... |
OMIM:261680 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections |
OMIM:619693 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Small for gestational age, Failure to thrive in infancy, Hypospadias |
ORPHA:261311 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Dysmetria, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemi... |
OMIM:212065 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal bleeding, Mala... |
ORPHA:79301 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... |
OMIM:147060 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Increased muscle... |
OMIM:608836 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... |
ORPHA:2959 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Hypergonadotropic hypog... |
ORPHA:298 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of ... |
ORPHA:79259 |
| Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Co... |
OMIM:300755 |
| Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Increased circulating interleukin 8 concentration, Failure to thrive in infan... |
OMIM:301220 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... |
OMIM:614878 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Tremor, Decreased circulating total IgM, Hypertension... |
OMIM:182410 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypocholesterolemia, Anemia |
OMIM:610539 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Barrett esophagus, Necrotizing enterocolitis, Intestinal malrotation, Int... |
OMIM:619350 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... |
ORPHA:90796 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc... |
OMIM:616005 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Sepsis, Large vessel vasculitis, Inflammation of the... |
OMIM:301000 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Renal neoplasm, Hypercalcemia, Poor appetite, Abdominal pain, Weight loss, N... |
ORPHA:69077 |
| Lynch Syndrome |
|
Flexion contracture, Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of... |
ORPHA:144 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Perianal abscess... |
ORPHA:444490 |
| Fanconi-Bickel Syndrome |
|
Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate... |
ORPHA:2088 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
ORPHA:280365 |
| Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Hepato... |
ORPHA:525731 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Thymoma |
|
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Decreased circulatin... |
ORPHA:99867 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased circulating total IgM, Pulmonary fibrosis, Decreased cir... |
OMIM:611926 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Recurrent ear infectio... |
ORPHA:300536 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:98793 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ... |
ORPHA:44890 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97280 |
| Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97278 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Renal salt wasting, Hypogly... |
ORPHA:361 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Respiratory failure, Decreased liver function, Failure to thrive, Hepa... |
ORPHA:70472 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap... |
ORPHA:91139 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
| Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Weight lo... |
OMIM:620045 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:177904 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Failure to thrive, Villous atrophy, Diarrhea, Steatorrhea, Renal... |
OMIM:602579 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:98754 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... |
OMIM:616433 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Stomatitis, Eczema, Abdominal pain, Celiac disease, Abdominal dist... |
OMIM:212750 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Feeding dif... |
ORPHA:177901 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... |
ORPHA:480520 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Decreased circulating total IgM... |
ORPHA:331206 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Rec... |
OMIM:606367 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis,... |
ORPHA:99827 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Recurrent viral infections, Increased circ... |
OMIM:618048 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Unsteady gait, Decreased circulating total IgM, Decreased circulating IgG level, Decrease... |
OMIM:300861 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Recurrent urinary tract infections, Ataxia, Impaired T cell function, Pneumo... |
OMIM:613179 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Compulsive behav... |
ORPHA:398069 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the liver, Hypoalbumine... |
ORPHA:85443 |
| Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Diabetes mellitus, Decrease... |
ORPHA:48818 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Anorexia, Sepsis, Hashimoto thyroiditis, Hypoparathyroidism... |
ORPHA:199299 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Elevated circulating C-reactive protein concentration, Colitis, Hypoal... |
OMIM:619381 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Flexion contracture, Sepsis, Leukopenia, Hypoalbuminemia, Macrovesicular he... |
OMIM:617303 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoa... |
OMIM:231680 |
| Parathyroid Carcinoma |
|
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:143 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hypertriglycer... |
OMIM:608594 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Recurrent resp... |
OMIM:264350 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism |
ORPHA:263297 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
ORPHA:2643 |
| Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Enuresis, Syncope, Gastroeso... |
OMIM:616260 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Respiratory insufficiency due to muscle wea... |
ORPHA:436271 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections, Bronchiec... |
OMIM:615468 |
| Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Recurrent pharyng... |
ORPHA:42642 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, A... |
ORPHA:412 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Nephropathy, Achalasia, Diffuse leiomyom... |
ORPHA:1018 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... |
ORPHA:542323 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... |
ORPHA:99889 |
| 8P23.1 Duplication Syndrome |
|
Adrenal insufficiency |
ORPHA:251076 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Nasogastric tube feeding in infancy, Xeros... |
ORPHA:739 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Elevated circulating phytanic acid... |
OMIM:266510 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
| Immunodeficiency 22 |
|
Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, Decreased circulating... |
OMIM:615758 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... |
ORPHA:873 |
| Immunodeficiency 15B |
|
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc... |
OMIM:615592 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Agita... |
ORPHA:276608 |
| Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
| Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Diabetes mellitus, Ataxia, Telangiectasia of the skin, Tremor, ... |
ORPHA:100 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Hyper... |
OMIM:617253 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Anorexia, Splenomegaly, Lymphoma, Breast carcinoma, Hyperhidrosis,... |
ORPHA:86893 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Premature adrenarche, Micropenis, Hypothalamic luteinizing hormone-releasing hormone ... |
ORPHA:398079 |
| Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, High, narrow palate, Cryptorc... |
ORPHA:2849 |
| 14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Feeding difficulties in infancy, Polyphagia, Obesity, Attention deficit hype... |
ORPHA:261229 |
| Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm |
ORPHA:46488 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Pneumothorax, Renal cyst, Cho... |
ORPHA:445038 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Increased body weight, Hyperhidrosis, Renal Fanconi syndrome, Vomiting... |
ORPHA:263455 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive in infancy, Pn... |
ORPHA:1572 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Hypoglycemia, Elevated circulating aspar... |
OMIM:617093 |
| Xq28 (MECP2) duplication |
|
Gait ataxia, Inability to walk, Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Increased urinary glycerol, In... |
ORPHA:348 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections |
OMIM:615214 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Obesity, Renal hypoplasia, Hypogonadism, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:614582 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... |
OMIM:617765 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... |
OMIM:605814 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Hematological neoplasm, Portal hy... |
ORPHA:98850 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Respiratory insuffici... |
OMIM:220110 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Anorexia, Cachexia, Malabsorption, Splenomegaly, Abdominal pa... |
ORPHA:2930 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Feeding difficulties, High palate, Polymicrogyria, Polyphagia |
OMIM:618774 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
| Immunodeficiency 54 |
|
Recurrent viral infections, Recurrent respiratory infections, Adrenal insufficiency, Adrenocortic... |
OMIM:609981 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Ataxia, Unsteady gait, Decreased circulating antibody level, Ga... |
ORPHA:2585 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ... |
ORPHA:14 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
| Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Atrophic scars, Inflammation of the large intestine, Increased... |
ORPHA:48104 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Recurrent infections, Decreased circulating total IgM, Defective T c... |
OMIM:619774 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... |
ORPHA:100085 |
| Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Renal ... |
ORPHA:85138 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration,... |
ORPHA:52430 |
| Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ... |
ORPHA:331 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Hepatic fai... |
OMIM:615486 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterol... |
ORPHA:71 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... |
OMIM:264470 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Thrombocytopenia, Recurrent pneumonia, Flexion contracture, Recurre... |
OMIM:616271 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Proteinuria, Hepa... |
OMIM:232220 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Dysgammaglobulinemia, Elevated circulating C-reactive protein c... |
OMIM:308240 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurren... |
OMIM:618935 |
| 3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Hypospadias, Microvesicula... |
OMIM:610198 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Chronic oral ca... |
OMIM:616740 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular nec... |
OMIM:256810 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... |
ORPHA:276152 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Ataxia, Decreased lymphocyte prolif... |
ORPHA:221139 |
| Alg12-Cdg |
|
Sepsis, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hyponatremia, H... |
ORPHA:79324 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Decreased ci... |
ORPHA:397596 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Apnea, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3... |
OMIM:210200 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, H... |
OMIM:619487 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
ORPHA:79312 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
| Fumarase Deficiency |
|
Mitochondrial swelling |
OMIM:606812 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:619752 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Skin rash, Weight loss, Neoplasm of the skin, Abnormal testis morphology |
ORPHA:317 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous war... |
ORPHA:90362 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Recurrent viral infections, Atopic dermatitis, Hepatosplenomegal... |
OMIM:618999 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... |
OMIM:212138 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... |
ORPHA:251992 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Nausea and vomiting, Test... |
ORPHA:83469 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Pericarditis, Myositis, Anorexia, Cachex... |
ORPHA:3452 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
| Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number |
OMIM:615578 |
| Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Hematological neoplasm, Gastrointes... |
ORPHA:99147 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Hepatosplenomegaly,... |
OMIM:209950 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Increased circulating antibody ... |
ORPHA:100024 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... |
OMIM:301074 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Recurren... |
OMIM:208900 |
| Rotor Syndrome |
|
Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Porphyrinuria, Hyp... |
ORPHA:3111 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Apnea, ... |
ORPHA:20 |
| Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Ataxia, Pericardial effusion, Small vessel vasculitis, Recurrent... |
ORPHA:36412 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Jaundice, Hep... |
ORPHA:319251 |
| Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Diarrhea, Primary hyperparathyroidism, Dysphagia, Hyperhidrosis,... |
ORPHA:1332 |
| X-Linked Adrenoleukodystrophy |
|
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level |
ORPHA:43 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Restrictive ventilatory defect, Abnor... |
ORPHA:369840 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... |
OMIM:240300 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, Achilles tendon con... |
OMIM:616263 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma |
OMIM:145001 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, ... |
ORPHA:465508 |
| Immunodeficiency 31C |
|
Hepatomegaly, Chronic oral candidiasis, Diabetes mellitus, Recurrent respiratory infections, Vill... |
OMIM:614162 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Gliosis |
OMIM:615119 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Lymphoproliferative disorder, P... |
OMIM:614470 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Ataxia, Recurrent staphylococcal infections, Severe varicella z... |
OMIM:615816 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... |
ORPHA:98907 |
| Kleine-Levin Syndrome |
|
Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... |
ORPHA:33543 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Eczema, Pancreatitis |
OMIM:606054 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Feeding difficulties in infancy, Hypogonadotropic hypogonadism, Polyphagia, Obesity |
ORPHA:177910 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Colitis, Ileal ulcer |
OMIM:616744 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Persistent EBV viremia, Decreased circulating total IgM, Decrea... |
OMIM:619510 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno... |
ORPHA:1667 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
| Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Hyperactivity, Precocious puberty in females, Aggressi... |
ORPHA:72 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Congestive ... |
ORPHA:67 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic stea... |
ORPHA:210548 |
| Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties, Ami... |
ORPHA:79238 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Stomatitis, Spider hemangioma, Chronic pancreati... |
OMIM:232240 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hypoglycemia, Pancreatitis, Hepatomegaly |
OMIM:251000 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Recurrent upper res... |
OMIM:210900 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Villous atrophy, Inflammatory abnormality of the skin, Malabsorpti... |
ORPHA:398063 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Hypogonadism, Polyphagia, Large for gestational age |
OMIM:617119 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ata... |
ORPHA:96180 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... |
OMIM:241600 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:79322 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| Majeed Syndrome |
|
Hepatomegaly, Glomerulopathy, Inflammatory abnormality of the skin, Proteinuria, Acne, Cachexia, ... |
ORPHA:77297 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
| Barth Syndrome |
|
Recurrent infections in infancy and early childhood, Abnormal mitochondrial morphology, Recurrent... |
OMIM:302060 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Recurrent viral infections, Sepsis, Hepati... |
OMIM:619573 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Ataxia, Recurrent bacterial infections, Decreased platelet glycoprotein Ib,... |
OMIM:603585 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Abdominal distention, Long penis, Hyperinsulinemia, Chol... |
OMIM:246200 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... |
OMIM:177735 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Anorexia, Myocardial infarction, Renal ... |
ORPHA:95409 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Sepsis, Bronchiectasis, Decreased circulating antib... |
OMIM:616100 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... |
ORPHA:275761 |
| Werner Syndrome |
|
Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neopl... |
ORPHA:902 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Respiratory insufficiency, Respiratory failure, 3-Me... |
OMIM:618329 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
| Central Diabetes Insipidus |
|
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Polydipsia, Failure to thrive... |
ORPHA:178029 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism, Self-injuriou... |
ORPHA:228402 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Elevated circulating C-reactive protein ... |
ORPHA:449400 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... |
OMIM:615438 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W... |
ORPHA:1979 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Akinesia, Hypochromic m... |
OMIM:619147 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Respiratory insufficiency, Cholestasis, Respira... |
ORPHA:746 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... |
OMIM:616030 |
| Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism |
OMIM:145260 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage, Hemangioma, Hematuria |
OMIM:106070 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Abdominal pain, Intestinal perforation, Peritonitis,... |
ORPHA:90038 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Sinus tachycardia, Hypercalcemia, Cerebral hemorrhage, Elevated u... |
ORPHA:94080 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Lymphoproliferative disorder, Skin rash, Abnormality o... |
ORPHA:33276 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... |
ORPHA:53035 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Steatorrhea, Failu... |
OMIM:246700 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... |
ORPHA:98908 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Feeding difficulties in infancy, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Aminoaciduria, Proximal tubulopathy, Vomit... |
OMIM:612075 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... |
OMIM:242840 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Sepsis, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Cough, Eleva... |
OMIM:619991 |
| Congenital Myopathy 12 |
|
Small for gestational age, Akinesia, Respiratory insufficiency due to muscle weakness, Jaw contra... |
OMIM:612540 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Diabetes mellitus, Telangiectasia of the skin, Abnormality ... |
ORPHA:542592 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
| Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Ataxia, Epistaxis, Recurre... |
ORPHA:167 |
| Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormality... |
ORPHA:1133 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Renal insufficiency, Epistaxis, Anorexia, Mal... |
ORPHA:33226 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hamartomatous polyposis, Hematoch... |
OMIM:175050 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, H... |
ORPHA:93111 |
| Trisomy 18P |
|
Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Attention deficit hyperactivity ... |
ORPHA:1715 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-homocystein... |
OMIM:614300 |
| Lymphoproliferative Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Increased circulatin... |
OMIM:613011 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom... |
OMIM:619377 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Recurrent to... |
ORPHA:2686 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
| Triple A Syndrome |
|
Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Neoplasm of the breast, Hyperglycemia, Hepatic steatosis, Renal neoplas... |
ORPHA:79474 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Pgm3-Cdg |
|
Recurrent respiratory infections, Ataxia, Increased circulating IgA level, Recurrent viral infect... |
ORPHA:443811 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... |
ORPHA:853 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Bronchiectasis, Recurrent infections, De... |
OMIM:616576 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Abnormal renal morphology, Hypocholesterolemia, Failure to thrive, Hyp... |
OMIM:610883 |
| 6Q16 Microdeletion Syndrome |
|
Poor suck, Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Weight loss, Respi... |
OMIM:168605 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Arth... |
ORPHA:254346 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Hypoalbuminemia, Hypocalcemia, Cough, Emphysema, Hepatic steatosis, Portal hypertensio... |
OMIM:613658 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... |
OMIM:116920 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
| Felty Syndrome |
|
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections,... |
ORPHA:47612 |
| Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis |
OMIM:617475 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... |
ORPHA:3260 |
| Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification, Steatorrhea |
ORPHA:75233 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
| Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency |
ORPHA:1048 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphoma, Hyperhidrosis, Weight l... |
ORPHA:391 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Di... |
ORPHA:1842 |
| Reni Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
OMIM:617575 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Pneumonia, Recurrent viral infections, Increased circulating I... |
OMIM:102700 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Anorexia, Splenomegaly, Weight lo... |
ORPHA:507 |
| Renpenning Syndrome |
|
Diabetes mellitus, Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular... |
ORPHA:3242 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphe... |
OMIM:617156 |
| Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
OMIM:176270 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Hypoglycemic seizures, Myoglo... |
OMIM:231530 |
| Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Decreased circulating parathyroid hormone level, Polyuria, Nephrolithiasis, Hyperc... |
OMIM:143880 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Lymphoproliferative Syndrome 2 |
|
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Recurrent infec... |
OMIM:615122 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Mala... |
ORPHA:3463 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Generalized morning stiffness, Iridocycliti... |
ORPHA:85436 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Bowel incont... |
ORPHA:330001 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... |
OMIM:603041 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... |
ORPHA:97287 |
| Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Abnormal bleeding, Nausea and vomiting, Brain neoplasm, Elevated carcin... |
ORPHA:370348 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Poems Syndrome |
|
Diabetes mellitus, Lymphoproliferative disorder, Lipodystrophy, Abnormality of the endocrine syst... |
ORPHA:2905 |
| Ileal Neuroendocrine Tumor |
|
Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intestinal obstruction, Episod... |
ORPHA:100078 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Hamartomatous polyposis, Intracranial hemorrhage, Neoplasm, Thyro... |
ORPHA:109 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
| Craniopharyngioma |
|
Nausea and vomiting, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the ant... |
ORPHA:54595 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... |
ORPHA:53693 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Delayed puberty... |
OMIM:616834 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... |
ORPHA:549 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia... |
OMIM:618278 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... |
OMIM:614897 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... |
OMIM:231550 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty |
OMIM:612079 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Multiple Endocrine Neoplasia, Type I |
|
Zollinger-Ellison syndrome, Pituitary prolactin cell adenoma, Prolactinoma, Carcinoid tumor, Incr... |
OMIM:131100 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, I... |
OMIM:618213 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
| Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypospadias, Increased circulating farnesol concentration, Bilatera... |
OMIM:618156 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Pneumonia, Bronchiectasis, BCGitis, Recurrent infections, Impai... |
OMIM:226990 |
| Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Tracheoesophageal fistula, Weight loss, Neoplasm of the lung, Ma... |
ORPHA:142 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... |
OMIM:273800 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Prolonged bleeding time, Spl... |
ORPHA:3226 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... |
ORPHA:439232 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental... |
ORPHA:251004 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Homocystinuria, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Failure ... |
OMIM:236200 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, A... |
ORPHA:90363 |
| Takayasu Arteritis |
|
Increased inflammatory response, Myocardial infarction, Anorexia, Vasculitis, Weight loss, Hyperh... |
ORPHA:3287 |
| Idiopathic Bronchiectasis |
|
Myocardial infarction, Respiratory tract infection, Emphysema, Bronchiectasis, Recurrent Haemophi... |
ORPHA:60033 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:420741 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... |
ORPHA:324964 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... |
ORPHA:3085 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Renal cyst, Abno... |
ORPHA:1606 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... |
ORPHA:343 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Abnormal cardiovascular system physiology, Dysphagia |
ORPHA:50251 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoglycemia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased circul... |
OMIM:607143 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Malabsorption, Absence of subcutaneous fat, Fl... |
OMIM:601675 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Hyperhidrosis, Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Atro... |
ORPHA:79406 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... |
ORPHA:2552 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Bronchie... |
OMIM:615207 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... |
ORPHA:199296 |
| Chronic Hiccup |
|
Weight loss, Malnutrition, Abnormal eating behavior |
ORPHA:396 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicula... |
OMIM:124000 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine bl... |
ORPHA:29072 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Recurrent ear infections, Aggressive behavior, Feeding difficulties, Self-injurious behavior, Mac... |
OMIM:156200 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... |
OMIM:301068 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me... |
ORPHA:900 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Congestiv... |
ORPHA:90308 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Chronic lymphocytic meningitis, Reduced circulating prolact... |
ORPHA:95513 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Gastroint... |
ORPHA:537 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys... |
ORPHA:91 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Microvesicu... |
ORPHA:66634 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Chronic lymphocytic meningitis, Reduced circulating prolact... |
ORPHA:95512 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abdominal symptom, H... |
ORPHA:400 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia, Periventricular heterotopia |
ORPHA:397941 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Respirat... |
OMIM:614922 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine blocking test, Nausea, Extraa... |
ORPHA:276621 |
| Aicardi Syndrome |
|
Hiatus hernia, Precocious puberty, Recurrent pneumonia, Teratoma, Carcinoma, Cleft palate, Gray m... |
OMIM:304050 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Akinesia, Splenomegaly, Thrombocytopenia, Hepatospleno... |
OMIM:608013 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Flexion contracture, Squamous cell carcinoma, Hypoal... |
ORPHA:89842 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemi... |
ORPHA:97289 |
| Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Ovarian neoplasm, Macroglossia, Neoplasm, Neoplasm ... |
ORPHA:2221 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:486 |
| Christianson Syndrome |
|
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Inappropriate laughter, Dysph... |
ORPHA:85278 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
| Diencephalic Syndrome |
|
Cachexia, Long penis, Hyperhidrosis, Neoplasm of the nervous system, Decreased body weight, Abnor... |
ORPHA:1672 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorch... |
OMIM:617053 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Mastocytosis, Sarcoma |
ORPHA:66661 |
| Attrv30M Amyloidosis |
|
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Nephropathy, Arrhyth... |
ORPHA:85447 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Aggr... |
ORPHA:96121 |
| Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Abn... |
ORPHA:79405 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Increased circulating interleukin... |
ORPHA:160 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis |
OMIM:232200 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Decreased circulating IgA level |
OMIM:215250 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Hypospadias, Akinesia |
OMIM:619334 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Pulmonary edema, Cardiomegaly, Decreased circulating antibody le... |
ORPHA:79330 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
| Nephroblastoma |
|
Abdominal pain, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hypertension, Neoplasm,... |
ORPHA:654 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Weight loss, Vomiting, Polydipsia, Diabetes insipidus |
ORPHA:30925 |
| Flynn-Aird Syndrome |
|
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus |
ORPHA:2047 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis |
ORPHA:188 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Hepatomegaly, Tachycardia, Peptic ulcer, Myelodysplasia, Hematological ne... |
ORPHA:98849 |
| Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Neoplasm |
ORPHA:168811 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Recurrent viral infections, Partial IgA deficiency, Recurrent o... |
ORPHA:35078 |
| Bloom Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Recurrent herpes, Pneumonia, Bronchitis, R... |
ORPHA:125 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Anorexia, Diarrhea, Hyperammonemia, Weight loss, Hypertens... |
ORPHA:134 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly o... |
ORPHA:2908 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Hydronephrosis, Akinesia |
OMIM:607598 |
| Arima Syndrome |
|
Hepatomegaly, Occipital meningocele, Ataxia, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 c... |
OMIM:243910 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Large vessel vasculitis, Hashimo... |
ORPHA:49041 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Adrenal insuf... |
ORPHA:261476 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic... |
ORPHA:731 |
| Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Nephrocalcinosis, High palate, Fasting hypoglycemia, Hypothyroidism, En... |
ORPHA:769 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis,... |
ORPHA:300298 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Aggressive behavior, Hypertension, Hypogonadism, Dysphagia, Diabetes insipidus |
ORPHA:97229 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
| Immunodeficiency 92 |
|
Recurrent oral herpes, Persistent CMV viremia, Pneumonia, BCGosis, Abnormal B cell proliferation,... |
OMIM:619652 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger, Splenomegaly, Patent ... |
ORPHA:354 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Myelo... |
ORPHA:729 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Gastroint... |
ORPHA:36426 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia |
ORPHA:98764 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... |
ORPHA:1304 |
| Leprechaunism |
|
Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypogly... |
ORPHA:508 |
| Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... |
OMIM:229600 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos... |
ORPHA:99228 |
| Monosomy X |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos... |
ORPHA:99226 |
| Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos... |
ORPHA:881 |
| Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia |
OMIM:606764 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
| Giant Cell Arteritis |
|
Glossitis, Pericarditis, Renal insufficiency, Epistaxis, Anorexia, Sudden cardiac death, Abdomina... |
ORPHA:397 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Akinesia, Cryptorchidism, Respiratory insuf... |
ORPHA:994 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Glucose into... |
ORPHA:358 |
| Wagro Syndrome |
|
Proteinuria, Multiple exostoses, Aggressive behavior, Obesity, Hypertension, Agitation, Compulsiv... |
OMIM:612469 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Cimdag Syndrome |
|
Hepatomegaly, Ataxia, Lipodystrophy, Microvesicular hepatic steatosis, Recurrent infections, Hypo... |
OMIM:619273 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Urinary incontinence, Feeding difficulties |
OMIM:620368 |
| Pseudohypoparathyroidism Type 1A |
|
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... |
ORPHA:79443 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Increased serum iron, Oral cavity ... |
ORPHA:98870 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Megacystis, Abnormality of the urinary system, Failure to thrive, ... |
ORPHA:977 |
| Rasmussen Subacute Encephalitis |
|
Inability to walk, Decreased circulating total IgA, Hemidystonia |
ORPHA:1929 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Abdominal symptom, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased r... |
ORPHA:79444 |
| Congenital Myopathy 9A |
|
Cryptorchidism, Obesity, Akinesia |
OMIM:618822 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Psoriasiform dermatitis, Eczema, Weight loss, Recurrent infections |
ORPHA:703 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Splenomegaly, Vasculi... |
OMIM:603909 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Chronic lymphocytic meningitis, Reduced circulating prolact... |
ORPHA:91355 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Episodic vomiting, Pi... |
OMIM:615873 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... |
OMIM:158310 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Elevated circ... |
ORPHA:767 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
| Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... |
OMIM:115310 |
| Mannosidosis, Alpha B, Lysosomal |
|
Gait ataxia, Recurrent bacterial infections, Limb ataxia, Decreased circulating antibody level |
OMIM:248500 |
| Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
| Adnp Syndrome |
|
Recurrent urinary tract infections, Inguinal hernia, Urinary incontinence, Aggressive behavior, O... |
ORPHA:404448 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... |
OMIM:613960 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Precocious puberty, Cryptorchidism, Insulin ... |
ORPHA:813 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Hepat... |
OMIM:617341 |
| Yao Syndrome |
|
Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
| Neonatal Adrenoleukodystrophy |
|
Primary adrenal insufficiency |
ORPHA:44 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Poor appeti... |
ORPHA:3163 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Abnormal mesen... |
ORPHA:284 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Dilatation of the renal pelvis, Bronchiectasis, Knee flexion contracture, Inflammation of the lar... |
OMIM:619708 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
| Mirizzi Syndrome |
|
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Pseudohypoaldosteronism, Type Iic |
|
Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc... |
ORPHA:352540 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Mitral valve calcification, Abnormal heart valve morphology, At... |
ORPHA:77261 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Acid... |
OMIM:203700 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... |
OMIM:608233 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ganglioneuroblastoma, Abdominal pain, Diarrhea, Elevated ur... |
OMIM:256700 |
| Q Fever |
|
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious... |
ORPHA:781 |
| Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Restlessness, Aggressive behavior, Feeding difficulties in infancy, Cr... |
ORPHA:251028 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Decreased testicular size, Oropharyngeal squamous cell carcinoma, Hypospa... |
OMIM:305000 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Renal insufficiency, Abnormal dental enamel morph... |
ORPHA:79430 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
| Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism |
OMIM:614495 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina... |
ORPHA:774 |
| Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... |
ORPHA:185 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2902 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit... |
OMIM:620133 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Anorexia, Splenomegaly, Iridocyclitis, Enlarged l... |
OMIM:181000 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, ... |
ORPHA:99745 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... |
ORPHA:240094 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Osteomyelitis, Malabsorption, Abd... |
ORPHA:793 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
| Plague |
|
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectious pneumo... |
ORPHA:707 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Vomiting, Premature adrenarche, Hyponat... |
ORPHA:90794 |
| Congenital Macroglossia |
|
Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... |
ORPHA:79456 |
| Behçet Disease |
|
Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulo... |
ORPHA:117 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis |
ORPHA:26791 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Cor triatr... |
OMIM:612541 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My... |
ORPHA:221 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| Peroxisome Biogenesis Disorder 2B |
|
Adrenal insufficiency |
OMIM:202370 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Small for gestatio... |
ORPHA:404454 |
| Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
| Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
| Luscan-Lumish Syndrome |
|
Aggressive behavior, Obesity, Polycystic ovaries, Recurrent otitis media, Polyphagia |
OMIM:616831 |
| Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism |
OMIM:614496 |
| Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Abnormality of thyroid physiology, Minimal change glomerulonephritis |
ORPHA:1830 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... |
ORPHA:251510 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Neonatal respiratory distress, Inguinal hernia, Akinesia, Acanthocytosis, Flex... |
OMIM:618947 |
| Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
| Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... |
ORPHA:37 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Increased circulating an... |
OMIM:114065 |
| Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Skin rash, Epistaxis, Cerebral he... |
ORPHA:99828 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Lymphoma, Weight loss |
ORPHA:545 |
| Shwachman-Diamond Syndrome |
|
Diabetes mellitus, Pneumonia, Recurrent viral infections, Hypoamylasemia, Sepsis, Abnormal heart ... |
ORPHA:811 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia ... |
ORPHA:247691 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hepatomegaly, Micropenis, Hypocholesterolemia |
OMIM:618810 |
| African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Akinesia, Abnormality of the endocrine s... |
ORPHA:3385 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Congestive heart failure, Flexion contracture, Feeding difficulties, Arrhythmia |
ORPHA:157973 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... |
ORPHA:93941 |
| Mccune-Albright Syndrome |
|
Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat... |
ORPHA:562 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Decreased circula... |
OMIM:242860 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan... |
ORPHA:3208 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Corneal neovascularization, Chronic rhinitis, Squamous cell carcinoma |
OMIM:615225 |
| Liposarcoma |
|
Nausea and vomiting, Abnormality of the kidney, Abdominal pain, Weight loss, Sarcoma |
ORPHA:69078 |
| Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Failu... |
ORPHA:778 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Decreased circulating ... |
OMIM:618042 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration, Ileu... |
ORPHA:52503 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Chronic mucocutaneous candidiasis, Type ... |
OMIM:269200 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... |
ORPHA:99885 |
| Reactive Arthritis |
|
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal ... |
ORPHA:29207 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... |
ORPHA:309031 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... |
OMIM:619525 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| Smith-Lemli-Opitz Syndrome |
|
Facial capillary hemangioma, Renal cyst, Hypoalbuminemia, Holoprosencephaly, Hypocholesterolemia,... |
OMIM:270400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine... |
OMIM:615356 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis |
ORPHA:565612 |
| Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Neoplasm, Constipation, Menorrhagia |
ORPHA:168816 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... |
OMIM:142680 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja... |
ORPHA:100086 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Squamous cell carcinoma,... |
ORPHA:79409 |
| Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar hemorrhage, Weight loss,... |
ORPHA:520 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia |
OMIM:607454 |
| Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Abnormal bleeding, Joint hemor... |
ORPHA:169805 |
| Pneumocystosis |
|
Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Neoplasm, Increased circulatin... |
ORPHA:723 |
| Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Glioma, B-ce... |
ORPHA:647 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Malnutrition, Corn... |
OMIM:226600 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... |
ORPHA:342 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Schwannoma, Odynophagia, Malnutrition, Jaw claudication, Weight loss, ... |
ORPHA:221098 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Recurrent respiratory infections, Portal hypertension, Decreased circul... |
OMIM:613385 |
| Estrogen Resistance Syndrome |
|
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary... |
ORPHA:785 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Cholelithiasis, Hypot... |
ORPHA:231222 |
| Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level |
ORPHA:427 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... |
OMIM:615363 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer... |
ORPHA:227982 |
| Steinert Myotonic Dystrophy |
|
Brain neoplasm, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation t... |
ORPHA:273 |
| Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi... |
ORPHA:79102 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Increased circulating renin level |
OMIM:203400 |
| Fanconi Anemia |
|
Abnormality of the liver, Neoplasm, High palate, Abnormality of the hypothalamus-pituitary axis, ... |
ORPHA:84 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Akinesia, Choreoathetosis, Truncal ataxia, Hyperalaninemia, Failure to thrive |
OMIM:618249 |
| Postencephalitic Parkinsonism |
|
Abnormal respiratory system physiology, Akinesia, Cough |
ORPHA:97349 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
| Isaacs Syndrome |
|
Weight loss, Hyperhidrosis |
ORPHA:84142 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Elevated circulating C-r... |
ORPHA:54251 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Hyperlipidemia, Joint h... |
ORPHA:35909 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Inguinal hernia, Osteomyelitis, Hypoglycemia, M... |
ORPHA:565 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Oliguria, Weight loss, Central hypothyroidism |
ORPHA:514 |
| Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr... |
ORPHA:139402 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Gait disturbance, Neonatal hypoglycemia, Decreased circulating IgA level |
ORPHA:457485 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Neurogenic bladder, Elbow contracture, Feeding difficulties in infancy, Pyloric ... |
OMIM:617137 |
| Dubowitz Syndrome |
|
Inguinal hernia, Aplastic anemia, Hypospadias, Cryptorchidism, Lymphoma, Recurrent infections, Ac... |
OMIM:223370 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... |
OMIM:208085 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dys... |
ORPHA:227990 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Increased circulating IgE level, Recurrent pneumonia, Decreased circulating an... |
ORPHA:508533 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
| Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Dysphagia, Squamous cell carci... |
ORPHA:60032 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... |
OMIM:219700 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Chronic infection, Adrenal insufficiency, Delayed puberty,... |
ORPHA:231226 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Diarrhea, Elevated circu... |
ORPHA:230 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Chronic pancreatitis, Cryptorchidism, Adrenal in... |
OMIM:307030 |
| Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Portal hypertension, Anorexia, Hematological neoplasm, Splenomeg... |
ORPHA:824 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency |
OMIM:530000 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... |
ORPHA:3455 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... |
ORPHA:2796 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... |
OMIM:620040 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bow... |
ORPHA:35710 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent uppe... |
OMIM:600802 |
| Liddle Syndrome 2 |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Juvenile Dermatomyositis |
|
Calcinosis, Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Elev... |
ORPHA:93672 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the t... |
ORPHA:567 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Narrow palate, Gastroesophageal reflux, Hi... |
OMIM:618186 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pericarditis, Gastritis, Myos... |
ORPHA:809 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
| Omenn Syndrome |
|
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... |
OMIM:603554 |
| Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Eczema, Anorexia, Hyperammonemia, Weight loss, Keratoconjunctivitis, Organic... |
ORPHA:79242 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Anorexia, Renal interstitial edema, Steril... |
ORPHA:91500 |
| Juvenile Huntington Disease |
|
Hyperactivity, Weight loss |
ORPHA:248111 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Feeding difficulties in infancy, High palate, Gastroesophageal reflux, Pachygyria... |
OMIM:607872 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Pyloric ste... |
ORPHA:363705 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Joint contracture, Hydrocephalus, Akinesia |
OMIM:225790 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Decreased circulating IgA level |
OMIM:616638 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... |
OMIM:619127 |
| Weaver Syndrome |
|
Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Camptodactyly, Umbil... |
OMIM:277590 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Obesity, ... |
ORPHA:251071 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em... |
ORPHA:70591 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Liddle Syndrome 1 |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
| Distal Deletion 13Q |
|
Primary adrenal insufficiency |
ORPHA:1590 |
| Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Spastic/hyperactive bladder, Weight loss, Gliosis, Shuffling gait |
ORPHA:411602 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Small for gestational age, Hypoglycemia, Ataxia, Increased hepatocell... |
OMIM:220111 |
| Sickle Cell Disease |
|
Recurrent bacterial infections, Hypertension, Cardiomegaly |
OMIM:603903 |
| Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Ataxia, Decreased circulating antibody level, Abnormal heart morphology, Decreased circulating Ig... |
OMIM:617062 |
| Melas |
|
Hypoparathyroidism, Diabetes mellitus, Recurrent pancreatitis, Type II diabetes mellitus, Type I ... |
ORPHA:550 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Intraalveolar phospholipid accumulation, Decreased ... |
ORPHA:470 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
| 17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch... |
ORPHA:97685 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Cachexia, Hypohidrosis |
ORPHA:884 |
| Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Abnormal bl... |
ORPHA:90062 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Partially dupli... |
ORPHA:274 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Large f... |
OMIM:300868 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... |
ORPHA:99829 |
| Fatal Familial Insomnia |
|
Hyperhidrosis, Weight loss, Urinary retention, Constipation, Dysphagia |
OMIM:600072 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Recurrent pneumonia, Absence of subcutan... |
OMIM:614098 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:216866 |
| Corticobasal Syndrome |
|
Gait disturbance, Akinesia |
ORPHA:454887 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Cachexia, Feeding difficulties, Constipation |
OMIM:616801 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E... |
OMIM:137920 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Chronic infection, Adrenal insufficiency, Delayed puberty,... |
ORPHA:231214 |
| Adrenoleukodystrophy |
|
Hypogonadism, Primary adrenal insufficiency |
OMIM:300100 |
| Atelis Syndrome 2 |
|
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
| Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Weight loss |
ORPHA:517 |
| Kufor-Rakeb Syndrome |
|
Akinesia, Ataxia, Gait disturbance |
OMIM:606693 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Flexion contracture, Akinesia |
OMIM:253290 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Nasogastric tube feeding in infancy, Elbow flexion contracture, Knee f... |
ORPHA:371364 |
| Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... |
OMIM:193400 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Recurrent infections, Decreased circulating total IgM, Atrial septal defect,... |
OMIM:620005 |
| Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Ataxia, Decreased circulating I... |
OMIM:275350 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Squamous cell carcinoma, Gastrointestinal inflammation, ... |
ORPHA:79408 |
| Manganese Poisoning |
|
Gait disturbance, Akinesia |
ORPHA:306682 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Micr... |
OMIM:192315 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... |
OMIM:618268 |
| Mowat-Wilson Syndrome |
|
Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contract... |
ORPHA:2152 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Sepsis, Abnormal blood ion concentration, Squamous cell carcinoma, Gastrointe... |
ORPHA:79404 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cachexia, Aggressiv... |
ORPHA:85293 |
| Adrenomyeloneuropathy |
|
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... |
ORPHA:139399 |
| Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Lipodystrophy, Akinesia, Inability to walk, ... |
ORPHA:86309 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... |
ORPHA:974 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Urinary incontinence, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait |
ORPHA:247234 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Broad-based gait, Ataxia, Hypospadias, Recurrent ear infections, O... |
OMIM:619475 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Hydronep... |
OMIM:620330 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
| Ogden Syndrome |
|
Apnea, Maternal diabetes, Microvesicular hepatic steatosis, Iron deficiency anemia, Macrovesicula... |
OMIM:300855 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Weight loss, Keratoconjuncti... |
ORPHA:79128 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion c... |
OMIM:619503 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Nausea, Abdominal ... |
ORPHA:99921 |
| Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility, Adrenal hypoplasia |
ORPHA:230839 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Abnormal lung lobation, Abnormal heart morphology, Decreased circulating total IgM, Atrial septal... |
ORPHA:369837 |
| Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
| Leukocyte Adhesion Deficiency |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Pneumonia, Recurrent staphylococcal... |
ORPHA:2968 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, High palate, Raynaud phenomenon, ... |
ORPHA:740 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia |
OMIM:300894 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency |
ORPHA:139396 |
| Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Foot joint contracture, Achilles tendon contracture, Aplasia/Hypoplasia of the panc... |
ORPHA:456312 |
| Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... |
ORPHA:33577 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
| Chromomycosis |
|
Recurrent bacterial infections, Abnormal lung morphology |
ORPHA:182 |
| Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis |
OMIM:236680 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Decreased serum leptin, Flexion contracture, Right bundle branch block, Hypertension... |
OMIM:614008 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
| Huntington Disease-Like 1 |
|
Restlessness, Weight loss |
ORPHA:157941 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Di... |
ORPHA:424 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Laryngeal carcinoma, Hypospadias, Carcinoma, Palmoplantar hyperhidrosis, Hy... |
OMIM:610644 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Myasthenia Gravis |
|
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis |
ORPHA:589 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Falls, Gait imbalance, Akinesia |
ORPHA:240071 |
| Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Failure to thrive, Recurrent infections, Hypocholesterolemia |
OMIM:244450 |
| Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Proteinuria, Angular cheilitis, Poor appetite, Weight loss, Vomit... |
ORPHA:35858 |
| Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Weight loss, Arthritis, Cellulitis |
ORPHA:3165 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
| Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Anorexia, Pulmonary emb... |
ORPHA:394 |
| Kid Syndrome |
|
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Sepsis, Recurrent candida i... |
ORPHA:477 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Erythroderma, Poor appetite, Weight loss |
ORPHA:312 |
| Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Cough, Emphys... |
ORPHA:797 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Bronchiectasis, Weight loss |
ORPHA:1164 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Flexion contracture, Hydrocephalus, Renal hypoplasia, Abdominal obesity, Hypoplasia... |
OMIM:619321 |
| Cockayne Syndrome |
|
Urinary incontinence, Feeding difficulties in infancy, Congenital contracture, Gastroesophageal r... |
ORPHA:191 |
| Zellweger Syndrome |
|
Cryptorchidism, Primary adrenal insufficiency |
ORPHA:912 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Hyperhidrosis |
ORPHA:99868 |
| Oromandibular Dystonia |
|
Weight loss, Dysphagia, Bruxism |
ORPHA:93958 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Keratitis, Retroperitoneal fibrosis, Orchitis, Thyroiditis, Prostatitis, ... |
ORPHA:449563 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... |
OMIM:612301 |
| Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Small for gestational age, Abnormal dental enamel morphology, Myelodysplasia, Cryptor... |
ORPHA:221008 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Anhidrosis, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Defective production of... |
OMIM:612132 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneou... |
OMIM:610965 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero... |
OMIM:608022 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Dysph... |
ORPHA:300605 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuri... |
ORPHA:761 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Nocardiosis |
|
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Perito... |
ORPHA:31204 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Rett Syndrome |
|
Cachexia, Gastroesophageal reflux, Constipation, Bruxism, Abnormal T-wave, Prolonged QTc interval... |
OMIM:312750 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Feeding difficulties in infancy, Weight loss, Atypical sca... |
ORPHA:704 |
| Erdheim-Chester Disease |
|
Nausea and vomiting, Renal insufficiency, Osteomyelitis, Hypogonadotropic hypogonadism, Dysuria, ... |
ORPHA:35687 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... |
ORPHA:733 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Adrenal insufficiency, Hypohidrosis |
OMIM:615510 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-... |
ORPHA:99819 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Gastroparesis, Dilated cardiomyopathy, Weight loss, Mitral regurgi... |
OMIM:607459 |
| Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Hypoglycemia, Orchitis, Jaundice, Uveitis, Arth... |
ORPHA:99826 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Decreased circulating total IgM |
OMIM:618162 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Anorexia, Weight loss |
ORPHA:1302 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Pulmonary ven... |
ORPHA:90060 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| Peroxisome Biogenesis Disorder 4B |
|
Adrenal insufficiency |
OMIM:614863 |
| Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
| Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Abnormal bleeding, Transient ischemic attack, Myelodysplasia, Splenomegal... |
ORPHA:71493 |
| Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Recurrent infections, Feeding difficulties, Abnorm... |
ORPHA:206436 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Telangiectasia of the skin |
ORPHA:2176 |
| Lysinuric Protein Intolerance |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:222700 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hip contracture, Flexion contracture of finger, Ankle flexion c... |
ORPHA:2020 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia |
ORPHA:2774 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Hypothyroidism, Splenomegaly, Hepatosplenomegaly, Weight loss, Micrope... |
OMIM:613673 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy... |
OMIM:263300 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis |
ORPHA:99880 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:187900 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... |
ORPHA:488632 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
| 19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fe... |
ORPHA:217346 |
| Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Abnormality of t... |
ORPHA:3380 |
| Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
| Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Bowel incontinence, Cachexia, Abn... |
ORPHA:702 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Bronchiectasis, Weight loss |
ORPHA:411703 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, High palate,... |
ORPHA:800 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Renal neoplasm, Recurrent respiratory infections, Abnormal urinary c... |
ORPHA:538 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Sepsi... |
ORPHA:764 |
| Congenital Erythropoietic Porphyria |
|
Increased stool urobilinogen concentration, Abnormal circulating porphyrin concentration, Scarrin... |
ORPHA:79277 |
| Scorpion Envenomation |
|
Acute pancreatitis, Myocarditis, Hyperhidrosis, Glycosuria, Hyperglycemia |
ORPHA:466677 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Hepatic steatosis, Joint contracture of the 5th finger, Recurrent infections |
OMIM:619934 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Hepatomegaly, Self-muti... |
ORPHA:2388 |
| Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... |
ORPHA:79318 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type... |
OMIM:606721 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
| Malt Lymphoma |
|
Nausea and vomiting, Recurrent respiratory infections, B-cell lymphoma, Abdominal pain, Abnormali... |
ORPHA:52417 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss, Hepatosplenomegaly |
ORPHA:86884 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination |
ORPHA:280210 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Raynaud phe... |
OMIM:613471 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Recurrent respiratory infections, Hip contracture, Inguinal hernia, Abnorma... |
ORPHA:576 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormal myelination |
ORPHA:442835 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Hyperactivity, Ectopic posterior pituitary, Small for gestational ag... |
ORPHA:508488 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Skin rash... |
ORPHA:50918 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal v... |
ORPHA:2072 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Weight loss |
ORPHA:133 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test |
OMIM:616007 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
| Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
| Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Astrocytosis, Gliosis, Falls, Gait imbalance |
OMIM:601104 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Asplenia, Patent ductus arteriosus, Limitation of joint mobility, Abnorm... |
ORPHA:99776 |
| Proteus Syndrome |
|
Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Neoplasm of the central nervous system, N... |
ORPHA:744 |
| Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
| Homozygous Familial Hypercholesterolemia |
|
Dyspnea, Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery s... |
ORPHA:391665 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Jaundice, Diarrh... |
ORPHA:677 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi... |
OMIM:164310 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Abdominal pain, Weight loss, Hematuria, Syncop... |
ORPHA:71273 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu... |
OMIM:608710 |
| Supranuclear Palsy, Progressive, 2 |
|
Gliosis, Falls, Gait imbalance, Akinesia |
OMIM:609454 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium co... |
ORPHA:60025 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Urinary incontinence, Akinesia, Acanthocytosis, Choreoathetosis, Gait disturbance |
OMIM:234200 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt... |
ORPHA:363958 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoarthritis, Uveitis, Weight loss, En... |
ORPHA:85408 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Anorexia, Cachexia, Feeding difficulties in infancy, Splenomegaly, Abnormal subcuta... |
ORPHA:1328 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Perimembranous ventricular septal defect, Pulmonary hypoplasia |
ORPHA:83617 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Cachexia, Short hard palate, Anorexia |
ORPHA:1969 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Inguinal hernia, Congestive heart failure, Recurrent pneumonia, Arte... |
OMIM:225400 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
| Pallister-Hall Syndrome |
|
Decreased testicular size, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticot... |
ORPHA:672 |
| Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Monorchism, Primary adrenal insufficiency, Absent testis, Decre... |
ORPHA:2753 |
| Viss Syndrome |
|
Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Increased circulating... |
OMIM:619472 |
| Microphthalmia, Syndromic 2 |
|
Cryptorchidism, Hypothyroidism, Adrenal insufficiency |
OMIM:300166 |
| Gerstmann-Straussler Disease |
|
Weight loss, Aggressive behavior |
OMIM:137440 |
| Stickler Syndrome |
|
Recurrent respiratory infections, Abnormal dental enamel morphology, Cachexia, Feeding difficulti... |
ORPHA:828 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Mixed demyelinating and axonal polyneuropathy, Abnormal peripheral myelination, Abnormal myelination |
ORPHA:466768 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperacti... |
ORPHA:649 |
| Marfan Syndrome |
|
Inguinal hernia, Arthralgia/arthritis, Cachexia, High, narrow palate, Congestive heart failure, C... |
ORPHA:558 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Erythro... |
OMIM:233450 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormality of humoral immunity, Recurrent Staphylococcus aureus infections, Syncope, Difficulty ... |
ORPHA:642 |
| Seckel Syndrome |
|
Abnormal dental enamel morphology, Cachexia |
ORPHA:808 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination |
ORPHA:309854 |
| Cockayne Syndrome Type 3 |
|
Demyelinating peripheral neuropathy, Abnormal myelination |
ORPHA:90324 |
| Degcags Syndrome |
|
Abnormal myelination |
OMIM:619488 |
| Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination |
ORPHA:434179 |
| Leprosy, Susceptibility To, 3 |
|
|
OMIM:246300 |
