Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, High, narrow ... |
ORPHA:2849 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Neurofibroma |
|
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... |
ORPHA:252183 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... |
OMIM:608971 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction |
ORPHA:481 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Glucos... |
OMIM:235200 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... |
ORPHA:562 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Enlarged l... |
ORPHA:449432 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Soft tissue neoplasm, Vaginal neoplasm, Genital neo... |
ORPHA:2126 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Abnormality of the submandibular glands, Basal ... |
ORPHA:79493 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen... |
ORPHA:277 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Neoplasm of head... |
ORPHA:180229 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 19 |
|
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal... |
OMIM:615617 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... |
OMIM:619164 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Testi... |
OMIM:601163 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, P... |
ORPHA:90790 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral crypt... |
OMIM:305400 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, C... |
OMIM:300400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... |
ORPHA:465508 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... |
OMIM:618204 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... |
OMIM:618935 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,... |
ORPHA:169079 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism, High palate |
OMIM:300428 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... |
OMIM:601457 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Bazex Syndrome |
|
Lip hyperpigmentation, Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... |
ORPHA:280356 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal salivary gland morphology, Hepatic amyloidosis, Abnormality of t... |
ORPHA:314652 |
Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Macro... |
ORPHA:1193 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Dehydration, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... |
OMIM:614470 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Sple... |
OMIM:618495 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Dehydration, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Pedal edema, Increased circulating IgG level, Inflammation of the large i... |
ORPHA:98813 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... |
ORPHA:1359 |
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 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Thick lower lip vermilion, Obesity |
OMIM:300238 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Fanconi Renotubular Syndrome 5 |
|
Pulmonary fibrosis, Emphysema, Lung adenocarcinoma, Glycosuria |
OMIM:618913 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Oral leukoplakia, Pulmonary fibrosis |
OMIM:618165 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... |
OMIM:300602 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:601859 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... |
ORPHA:319218 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... |
ORPHA:284180 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Anterior hypopituitarism, Abnormal palate morp... |
ORPHA:2022 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Weight loss, Enlarge... |
ORPHA:79078 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Eczema, Chronic diarrhea, Oligoarthritis, T lymphocytopenia, Dec... |
OMIM:619510 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Pancreatic Agenesis 2 |
|
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... |
OMIM:615935 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Chronic diarrhea, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... |
OMIM:613501 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Open mouth, Tented upper lip vermilion, Dental crowding |
OMIM:300143 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancre... |
OMIM:609069 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... |
ORPHA:2470 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... |
OMIM:260370 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Thin upper lip vermil... |
ORPHA:456312 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Diarrhea, Leukocytosis, Pedal edema, Pleural effusion, Pancreatitis, P... |
ORPHA:188 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Lujan-Fryns Syndrome |
|
Dental crowding, Camptodactyly of finger, Abnormality of the dentition, High palate, Short philtr... |
ORPHA:776 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, C... |
OMIM:300148 |
Congenital Pancreatic Cyst |
|
Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice |
ORPHA:676 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:603909 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... |
OMIM:613011 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... |
ORPHA:99889 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... |
ORPHA:276580 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Dehydration, Leukopenia, Tubulointerstitial nephritis, Vomiting, Neutropenia, Pancr... |
OMIM:251000 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Eosinophilia, Orchitis, Retroperitoneal fibrosis, Abnormal lung morphology, Lymphoma... |
ORPHA:449563 |
Benign Schwannoma |
|
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... |
ORPHA:252164 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Gingival overgrowth, Chole... |
OMIM:246200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Flexion contracture, Obesity, High palate, Macroorchidism, Male hypogonadism, Wrist flexion contr... |
OMIM:300055 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
Sarcoidosis |
|
Abnormal lung morphology, Emphysema, Hypothyroidism, Hepatomegaly, Hyperthyroidism, Scarring, Por... |
ORPHA:797 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Everted lower lip vermilion, Obesity |
ORPHA:85286 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ch... |
OMIM:616005 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A... |
OMIM:617780 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Episodic hy... |
ORPHA:276575 |
Bangstad Syndrome |
|
Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ... |
ORPHA:1227 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pa... |
OMIM:610199 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Eczema, Dehydration, Anemia, Vomiting, Constipation, Neutropenia, Pan... |
OMIM:606054 |
Steinert Myotonic Dystrophy |
|
Brain neoplasm, Tented upper lip vermilion, Decreased response to growth hormone stimulation test... |
ORPHA:273 |
Werner Syndrome |
|
Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Acral lentiginous ... |
ORPHA:902 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Chylous Ascites |
|
Ascites, Pancreatitis, Lymphedema |
ORPHA:1160 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:242700 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Diarrhea, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphadenop... |
ORPHA:549 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morphology, Abnormality... |
ORPHA:1666 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatomegaly,... |
ORPHA:158061 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased c... |
ORPHA:397596 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... |
ORPHA:276152 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... |
OMIM:618986 |
Melioidosis |
|
Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, Abnormality of the spleen, H... |
ORPHA:31202 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... |
OMIM:612692 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613500 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptake, Decreased circula... |
ORPHA:90674 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy... |
OMIM:600955 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:66628 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:179494 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... |
OMIM:619652 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... |
OMIM:601346 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Downturned corners ... |
ORPHA:99885 |
Al Amyloidosis |
|
Hepatomegaly, Xerostomia, Abnormal pulmonary interstitial morphology, Pulmonary interstitial high... |
ORPHA:85443 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... |
OMIM:616871 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... |
ORPHA:275 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, ... |
ORPHA:93111 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... |
OMIM:150550 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Dental crowding, Cryptorchidism, Narrow mouth, Thick lower lip vermilion, Cleft pala... |
ORPHA:3063 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Autoimmunity, Minimal change glomerulonephritis, Thrombocytope... |
ORPHA:1830 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Autoimmunity, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, ... |
OMIM:240500 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Chronic diarrhea, Cholestatic liver disease, Acholic stools, Cirrhosis, Hepatocellular ... |
ORPHA:65682 |
Cach Syndrome |
|
Hepatosplenomegaly, Optic neuritis, Vomiting, Dysphagia, Pancreatitis, Oligohydramnios |
ORPHA:135 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hepatomegaly, Hypopituitarism, Failure to thrive, Diabetes mellitus, Decr... |
ORPHA:811 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Insulin resistance, Lymphoma, Insulin-resistant di... |
ORPHA:79086 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Macroorchidis... |
OMIM:618874 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Dysphagia |
OMIM:618230 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... |
OMIM:615607 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Splenomegaly, Oral ulcer, Abnormal pulmonary interstitial morphology, Weight loss, ... |
ORPHA:50918 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglyce... |
ORPHA:276556 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Flexion contracture of finger, Hypergonadotropic hypogonadism, Decreased response t... |
OMIM:602782 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, L... |
ORPHA:3261 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Abnormal intestine morphology |
OMIM:606528 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Leiomyosarcoma, Neoplasm, Hepatoblast... |
ORPHA:116 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Facial palsy, Macular coloboma |
OMIM:107550 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Autoimmunity, Diarrhea, Protracted diarrhea, Anemia, Decreased circulating... |
OMIM:615758 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia, Shawl scrotum |
ORPHA:261265 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... |
ORPHA:443811 |
Immunodeficiency 40 |
|
Hepatomegaly, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, I... |
OMIM:616433 |
Immunodeficiency 7 |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, ... |
OMIM:615387 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Sclerosing cholangitis, ... |
ORPHA:69663 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Hypoglycemia, Cryptorchidism, Long philtrum, Failure to thrive |
OMIM:618958 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Contractures of the large joints, Everted lower lip vermilion, Macroorchidism,... |
ORPHA:324410 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis |
OMIM:620137 |
Trisomy 20P |
|
Inguinal hernia, Hypospadias, Camptodactyly of finger, Microdontia, Abnormality of the dentition,... |
ORPHA:261318 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Chronic oral candidiasis, Decreased proportion of n... |
ORPHA:276 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... |
OMIM:137920 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Autoimmunity, Edema, Splenomegaly, Leukocytosis, Chronic d... |
ORPHA:39041 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Abnormal external genitalia, Hypoglycemia, Dental crowding, Hyperhidro... |
ORPHA:231140 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancreatic steatosis, Cryptorchidism, Oral ulcer, Amelogenesis imperfecta... |
OMIM:617052 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Hypoglycemia, Renal hamartoma, Congenita... |
OMIM:267000 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Acute colitis... |
ORPHA:544482 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Edema, Abnormal... |
ORPHA:178320 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Splenomegaly, Fulminant hepati... |
OMIM:308240 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Adrenal insufficiency, Pancreatitis |
OMIM:619386 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Vomiting, Dysphagia, Megaloblastic anemia |
OMIM:300322 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... |
ORPHA:100026 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr... |
OMIM:615952 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Dental crowding, Deep philtrum, Flexion contracture, High palate, Short... |
OMIM:309520 |
Dermatomyositis |
|
Recurrent respiratory infections, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, ... |
ORPHA:221 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... |
OMIM:167800 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, A... |
OMIM:616263 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Antineutrophil antibody posi... |
OMIM:301078 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... |
ORPHA:171 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholesterol gallstones, Bile duct prolif... |
OMIM:600803 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... |
ORPHA:227982 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity |
ORPHA:98827 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Small for gestational age, Cryptorchidism, Supernumerary tooth, Squamo... |
OMIM:268400 |
Tenorio Syndrome |
|
Hypoglycemia, Recurrent pneumonia, Wide mouth, Macroglossia, Keratoconjunctivitis sicca, Recurren... |
OMIM:616260 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... |
ORPHA:71529 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidis... |
ORPHA:95496 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Decreased thyroid-stimulating hormone level,... |
ORPHA:300373 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Conge... |
ORPHA:2255 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Nephritis, P... |
ORPHA:449427 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Parathyroid carcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Autoimmunity,... |
ORPHA:83471 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Delayed puberty,... |
OMIM:616033 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... |
ORPHA:363400 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Diarrhea, Peritonitis, Dehydration,... |
ORPHA:90038 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Failure to thrive, Diabetes mellitus, Intestinal malrotation... |
OMIM:600001 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo... |
ORPHA:314478 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterio... |
ORPHA:449395 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorch... |
OMIM:130650 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, T lymphocytopenia, Increased circulating IgM leve... |
OMIM:242860 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Vomiting, Neutrophilia, Leukocytosis, Chronic ... |
ORPHA:3260 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Gastrointestinal hemorrhage, Sinusitis, Pericardit... |
ORPHA:727 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... |
OMIM:614736 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypog... |
ORPHA:79237 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Inguinal hernia, Hypogonadotropic hypogonadism, Absence of Sten... |
OMIM:129900 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet... |
ORPHA:96149 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, High... |
ORPHA:556955 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Gout, Inflammation of ... |
OMIM:232220 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, ... |
ORPHA:263455 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Splenomegaly, Emphysema, Enlarged lacrimal glands, Bronchiectasis, Abnormal pulmona... |
OMIM:181000 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Failure to thrive, Intestinal malrotation, Supernumerary nipple, Cleft up... |
OMIM:605039 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Autoimmunity, Splenomegaly, Recurrent pneumo... |
ORPHA:47612 |
Sotos Syndrome |
|
Astrocytoma, No permanent dentition, Flexion contracture, Neoplasm, Hypothyroidism, Hypospadias, ... |
ORPHA:821 |
Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... |
ORPHA:48818 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... |
ORPHA:85414 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Ovarian neoplasm, Ascites, Pancreatitis, Anemia |
ORPHA:370348 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Dental crowding, Increased subcutaneou... |
ORPHA:2457 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, X... |
ORPHA:2363 |
Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal lung lobation, Neoplasm of the central nervous system, Neoplasm,... |
ORPHA:744 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... |
ORPHA:93126 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Edema, Leukocytosis, Diarrhea, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Inguinal hernia, Hypospadias, Small for gestational age, Hypoglycemia, Dysmenorrhe... |
ORPHA:397590 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Vomiting, Neutropen... |
ORPHA:73263 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell... |
OMIM:615966 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Iron deficiency anemia... |
ORPHA:37042 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Hypogonadotropic hypogonadism, Decreased response to grow... |
OMIM:604292 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatic steatosis, Chilblains, Hepatomegaly, ... |
OMIM:619487 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis |
OMIM:238600 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Treacher Collins Syndrome 1 |
|
Lacrimal duct stenosis, Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal par... |
OMIM:154500 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia |
ORPHA:1203 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Diarrhea, Pancreatitis, Anemia, Leukopenia, Vomiting, Hemophagocytosi... |
OMIM:222700 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Hypoglycemia, Large for gestational age, Cryptorchidism, Wide mouth, Lo... |
OMIM:616638 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Antiphospholipid antibody posi... |
ORPHA:391487 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Failure to thrive, Biliary hyperplasia, Cryptorchidism, Contractur... |
ORPHA:83617 |
Familial Mediterranean Fever |
|
Pericarditis, Intestinal obstruction, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Diarrhea... |
ORPHA:342 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... |
ORPHA:809 |
Ollier Disease |
|
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... |
ORPHA:296 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Pancrea... |
ORPHA:565612 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... |
OMIM:616113 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Diarrhea, Lymphadenopathy, ... |
ORPHA:79456 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Elevated hepatic iron concent... |
OMIM:619991 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, High palate, Lo... |
OMIM:618500 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Chronic... |
ORPHA:47 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... |
OMIM:301074 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:203800 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Fasting hyperinsulinemia, High palate, Fasting hypoglycemia, Advanced eruption o... |
ORPHA:769 |
Marburg Hemorrhagic Fever |
|
Uveitis, Bloody diarrhea, Dehydration, Leukopenia, Vomiting, Abnormal lymphocyte morphology, Naus... |
ORPHA:99826 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4... |
ORPHA:449400 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Antinucl... |
ORPHA:470 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... |
OMIM:608594 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia, Hypohidrosis, Impotence, Keratoconjunctivitis sicca |
ORPHA:43393 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Myelodysplasia, Hypoglycemia, Adrenal hypoplasia, Cr... |
OMIM:617053 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Central hypo... |
ORPHA:514 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Intestinal... |
ORPHA:900 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Recurrent respiratory infections, Hypospadias, Cryptorchidism, Pylo... |
OMIM:147791 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Camptodactyly of finger, Splenomegaly, Xerostomia, Abnormality o... |
ORPHA:90340 |
Maple Syrup Urine Disease |
|
Vomiting, Pancreatitis, Cerebral edema |
OMIM:248600 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea... |
OMIM:617718 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:435651 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Diarrhea, Enterocolitis, Gout, Polycystic o... |
ORPHA:79259 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Bronchiectasis, Biliary cirrh... |
OMIM:219700 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Neoplasm of the breast, Hyperglycemia, Abnormality of the pulmonary art... |
ORPHA:79474 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss, Sarcoma |
ORPHA:66661 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis... |
ORPHA:2902 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Lymphadeno... |
OMIM:607944 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... |
OMIM:269700 |
Trisomy 8P |
|
Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Annular pancreas, Abnorm... |
ORPHA:264450 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypothyroidism, Pancreatitis, Dysphagia |
ORPHA:412057 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Lymphadenopath... |
ORPHA:139402 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Failure to thrive, Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Diarrhea, Lymphadenopathy |
ORPHA:56425 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Tented upper lip vermilion, Large for gestational age, ... |
OMIM:229850 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenism, Anti-thyroid peroxid... |
ORPHA:228426 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antimitochondrial antibody positivity, Antinuc... |
ORPHA:562639 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Esophageal atresia, An... |
OMIM:227646 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Diarrhea, Conjunctivit... |
ORPHA:36426 |
Crimean-Congo Hemorrhagic Fever |
|
Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbil... |
ORPHA:99827 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Ovarian cyst, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
Rhabdoid Tumor |
|
Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Feingold Syndrome |
|
Abnormality of the spleen, Esophageal atresia, Orofacial cleft, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Campomelia, Cumming Type |
|
Hepatomegaly, Myelodysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abnorm... |
ORPHA:1318 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:143 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:176270 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Elbow contracture, Knee flexion contracture, High p... |
OMIM:618162 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Cleft lip, Medulloblastoma, Annular pancreas, Bilateral wrist f... |
ORPHA:97297 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Eruption failure, Multiple lipomas, Pap... |
OMIM:175100 |
Schinzel-Giedion Syndrome |
|
Abnormality of the gingiva, Anteriorly placed anus, Short philtrum, High palate, Hepatoblastoma, ... |
ORPHA:798 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Protein-losing enteropathy, Hyperinsulinemic... |
ORPHA:79319 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Microglossia,... |
OMIM:263520 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... |
ORPHA:85138 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Skin rash, H... |
ORPHA:99829 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Neutropenia, Anemia, Conjunctivitis, Dysphagia, Pancreatitis, Thromb... |
ORPHA:537 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Steatorrhea, High palate, Hyperechogenic pancreas, Failure to thrive, Exocrine panc... |
OMIM:617941 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Intestinal polyposis, Hypoglycemia, Cachexia, Abnormal large inte... |
ORPHA:109 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate |
ORPHA:1190 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intest... |
OMIM:200995 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Hypogl... |
ORPHA:199299 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Small for gestational age, Malabsorption, Mac... |
OMIM:557000 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:99880 |
Alström Syndrome |
|
Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ... |
ORPHA:64 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... |
ORPHA:508 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Vomiting, Intractable diarrhea... |
OMIM:619381 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Orchi... |
ORPHA:117 |
Citrullinemia Type Ii |
|
Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Hepatocellular carcinoma, Hepatic steatosis, ... |
ORPHA:247585 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Lymphoma, Bronchiectasis, Ho... |
OMIM:208900 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Autoimmunity, Anti-acetylch... |
ORPHA:99867 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... |
ORPHA:444490 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Monosomy 22 |
|
Aplasia of the thymus, Open mouth, Schwannoma, Hepatosplenomegaly, Hyperhidrosis, Contractures of... |
ORPHA:96123 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion contracture, Hyperinsuline... |
OMIM:613327 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Jaundice, Dehydration, Central hypothyroidism, Iron deficiency anemia, Abnormality ... |
ORPHA:1667 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... |
OMIM:613027 |
Aspartylglucosaminuria |
|
Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Abnormality of the dentition, Ca... |
ORPHA:93 |
Mirizzi Syndrome |
|
Nausea, Pancreatitis, Jaundice, Cholesterol gallstones, Vomiting, Cholelithiasis, Abnormal ductus... |
ORPHA:521219 |
Nk-Cell Enteropathy |
|
Edema, Increased T cell count, Diarrhea, Hematochezia, Gastroesophageal reflux, Constipation |
ORPHA:263665 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutro... |
OMIM:600901 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Dermatitis Herpetiformis |
|
Autoimmunity, Eczema, Edema, Microcytic anemia |
ORPHA:1656 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Intestinal obstruction, Intestinal lymphedema, Autoimmunity, Ed... |
ORPHA:90363 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Chronic diarrhea, Gastroesophageal reflux, Hypoplasti... |
OMIM:618268 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Anhidrosis, Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopath... |
ORPHA:169090 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Autoimmunity, Edema, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Elev... |
OMIM:617253 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutro... |
OMIM:227650 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Steatorrhea, Hepatic fibrosis, Protein-losing enteropathy, Cirrhos... |
OMIM:602579 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Sy... |
ORPHA:90033 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman... |
ORPHA:2969 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormality of the spl... |
ORPHA:1606 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Dysmenorrhea, Splenomegaly, Esophageal varix, Hepatocellular adenoma,... |
ORPHA:264580 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g... |
ORPHA:699 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Bronchiectasis, Neoplas... |
ORPHA:662 |
Meckel Syndrome |
|
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, As... |
ORPHA:564 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Bone m... |
OMIM:227645 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, Neoplasm, Hepatoblasto... |
ORPHA:373 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... |
OMIM:601152 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Small for gestational age, Hypoglycemia, Chronic pancreatitis, Cryptor... |
OMIM:307030 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Oral mucosal blisters, Oral ulcer, Thymoma, Sarcoma |
ORPHA:63455 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Hepatoblastoma, Chronic pancreatitis, Gout, Inflammation of the... |
OMIM:232240 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Failure to thrive in infancy, Hypoglyce... |
OMIM:619418 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Chylothorax, Polyhydramnios |
OMIM:619036 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Intestinal malrotation, Cryptorchidism, Pylori... |
ORPHA:2308 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Carious teeth, Supernum... |
OMIM:311200 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Thick lower lip vermilion, Wide mouth, Macrogloss... |
OMIM:208400 |
Melas |
|
Hypoparathyroidism, Diarrhea, Recurrent pancreatitis, Vomiting, Constipation, Hypothyroidism, Anemia |
ORPHA:550 |
Prune Belly Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Xerostomia, Oligohydramnios |
OMIM:100100 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Wiskott-Aldrich Syndrome |
|
Iron deficiency anemia, Inflammation of the large intestine, Absent microvilli on the surface of ... |
OMIM:301000 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Cleft palate, Knee flexion contracture, Downturned corners of mouth, Annular pan... |
ORPHA:488642 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Vomiting, Dysphagia, Hepatic periportal necrosis |
ORPHA:26791 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Coronal hypospadias, X... |
OMIM:149730 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cleft lip, Cryptorchidism, Furrowed tongue, High palate, Broad alveolar ridges, Annu... |
OMIM:616975 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Di... |
ORPHA:542323 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... |
ORPHA:289390 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Chronic mye... |
ORPHA:636 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Visceral Myopathy 1 |
|
Gastroparesis, Polyhydramnios, Diarrhea, Constipation, Vomiting, Dysphagia, Pancreatitis |
OMIM:155310 |
Sjogren Syndrome |
|
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... |
OMIM:270150 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, Vomiting, Anemia |
OMIM:175500 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, ... |
ORPHA:284 |
Whim Syndrome |
|
Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection... |
ORPHA:51636 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Hamartoma of tongue, Accessory oral frenulum... |
ORPHA:2750 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Abnormal lung lobation, Hypospadias, Esophageal atresia, Cleft lip, Pulmonary artery st... |
OMIM:265380 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Gout, Hepatocellular carcinoma, Intermittent diarrhea, Pancreatitis |
OMIM:232200 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Hepatic steatosis, Microcytic anemia, T lymphocytopenia, Gastroesophage... |
ORPHA:2959 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Hepatosplenomegaly, Abnor... |
ORPHA:464329 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Diarrhea, Recurrent pneumonia, Bron... |
OMIM:251260 |
Adiposis Dolorosa |
|
Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Arthritis, Constipation, Hypothyro... |
ORPHA:36397 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... |
ORPHA:398069 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Adipose tissue loss, Flexion contracture, Elevated circulating thyroid-stimulating hormone concen... |
OMIM:256040 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok... |
ORPHA:485421 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Tracheoesophageal fistula, High ... |
OMIM:164280 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hypothyroidism, Gout, Hepatic steatosis |
ORPHA:412 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Pituitary growth hormone cell adenoma, Hepatic cysts,... |
ORPHA:730 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Glucose intolerance, Inflammation of the large intestine, Hepatic fibrosis, ... |
ORPHA:99413 |
Turner Syndrome |
|
High, narrow palate, Glucose intolerance, Inflammation of the large intestine, Hepatic fibrosis, ... |
ORPHA:881 |
Mosaic Monosomy X |
|
High, narrow palate, Glucose intolerance, Inflammation of the large intestine, Hepatic fibrosis, ... |
ORPHA:99228 |
Monosomy X |
|
High, narrow palate, Glucose intolerance, Inflammation of the large intestine, Hepatic fibrosis, ... |
ORPHA:99226 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Meckel Syndrome, Type 7 |
|
Inguinal hernia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatospl... |
OMIM:267010 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Polyhydramnios, Hepatitis, Bl... |
ORPHA:436252 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Polyhydramnios, Decreased proportion of CD8-positi... |
ORPHA:508533 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Gastroesoph... |
ORPHA:779 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... |
ORPHA:44890 |
Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Antisynthetase Syndrome |
|
Myositis, Skin rash, Autoimmunity, Edema, Myocarditis, Xerostomia, Keratoconjunctivitis sicca, Dy... |
ORPHA:81 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Liposarcoma |
|
Weight loss, Sarcoma |
ORPHA:69078 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Esophageal varix, Periportal f... |
OMIM:263200 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Xerostomia, Arthritis, K... |
OMIM:617321 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Pancreatitis |
OMIM:619471 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Small scrotum, Small for gestational age, Slender build, Portal hypertension, Hy... |
OMIM:613658 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation |
OMIM:133020 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:95494 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Cellul... |
ORPHA:790 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Dysphagia, Chronic mucocutaneo... |
OMIM:242840 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Atelis Syndrome 2 |
|
Diastema, Thick lower lip vermilion, Hyperinsulinemia, Elevated circulating thyroid-stimulating h... |
OMIM:620185 |
Familial Hypocalciuric Hypercalcemia |
|
Autoimmunity, Pancreatitis |
ORPHA:405 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Recurrent respiratory infections, Cholangitis, Accessory oral frenulum, Pancreatic ... |
OMIM:266920 |
De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... |
OMIM:201750 |
Trichothiodystrophy |
|
Defective DNA repair after ultraviolet radiation damage |
ORPHA:33364 |
Agel Amyloidosis |
|
Edema, Xerostomia, Keratoconjunctivitis sicca, Abnormal spleen morphology, Blepharochalasis |
ORPHA:85448 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Retrograde ejaculation |
ORPHA:230 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Scorpion Envenomation |
|
Acute pancreatitis, Edema, Myocarditis, Diarrhea, Hyperhidrosis, Vomiting, Pulmonary edema |
ORPHA:466677 |
Diffuse Cutaneous Systemic Sclerosis |
|
Autoimmunity, Xerostomia, Arthritis, Gastroesophageal reflux, Dysphagia |
ORPHA:220393 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Chronic pancreatitis, Pineal cyst, Cholecystitis, Hepatic steatosis |
ORPHA:98908 |
Pmm2-Cdg |
|
Thin upper lip vermilion, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrop... |
ORPHA:79318 |
Intestinal Botulism |
|
Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Severe periodontitis, Pneumonia, Lymphocytic interstitial pneumonia, Abno... |
ORPHA:2968 |
Infant Botulism |
|
Bowel incontinence, Xerostomia, Keratoconjunctivitis sicca, Constipation, Dysphagia, Chronic otit... |
ORPHA:178478 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Breast aplasia, Inflamma... |
ORPHA:238468 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis |
OMIM:617671 |
Iatrogenic Botulism |
|
Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
Inhalational Botulism |
|
Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Keratitis, Xerostomia, Hypohidrosis, Infla... |
ORPHA:1896 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Absent nipple, Xerostomia, Rhinitis, Hypoplastic nipples |
OMIM:614941 |
Lipodystrophy, Familial Partial, Type 7 |
|
Diarrhea, Recurrent pancreatitis, Vomiting, Dysphagia, Pleural effusion |
OMIM:606721 |
Aplasia Of Lacrimal And Salivary Glands |
|
Lacrimal gland hypoplasia, Xerostomia, Lacrimal gland aplasia |
OMIM:180920 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Fasciitis, Urinary bladder inflammation, Diarrhea, Xerostomia, Bronchiectasis, Arth... |
ORPHA:99921 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Oral-pharyngeal dys... |
ORPHA:95455 |