Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormality of the kidney, Impaired ADP-in... |
OMIM:155100 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-... |
OMIM:617443 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Incr... |
ORPHA:182050 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... |
OMIM:187900 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Pneumonia, Thrombocytopenia, Giant platelets, Abnorma... |
ORPHA:238459 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Allodynia, Anorexia, Abdominal pain |
ORPHA:51890 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Trigeminal Neuralgia |
|
Trigeminal neuralgia, Ocular pain, Mandibular pain, Allodynia |
ORPHA:221091 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat... |
OMIM:153670 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially dupli... |
ORPHA:274 |
Complex Regional Pain Syndrome |
|
Limb pain, Allodynia |
ORPHA:83452 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... |
OMIM:619374 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Epistaxis, Increased mean platelet volume, Reduced platelet alpha granul... |
OMIM:314050 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Skin rash |
ORPHA:1059 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume |
OMIM:185050 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Allodynia |
ORPHA:137596 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa... |
ORPHA:85450 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Increased level of L-py... |
OMIM:260005 |
Bartter Syndrome Type 4 |
|
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... |
ORPHA:89938 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Diarrhea, Hypercalci... |
OMIM:241200 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Polyuria, Renal salt wasting, Increased urinary potassium,... |
OMIM:601678 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... |
OMIM:300635 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper... |
ORPHA:35909 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:c... |
OMIM:121300 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Limitation of joint mobility, Bone pain, Systemic lupus erythematosus, Addictive al... |
ORPHA:399180 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Congestive heart failure, Abnormal renal tubular resorption, Dilated cardio... |
ORPHA:73224 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Abdominal cramps, Allodynia, Dysphagia, Abdominal pain |
OMIM:603041 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H... |
OMIM:105200 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Death in infancy, Sudden cardiac ... |
OMIM:201475 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne, Elevated urinary prostaglandin E2 level |
OMIM:167100 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... |
OMIM:602390 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Intracranial hemorrhage, Bone marrow hypocellularity, Chronic otitis med... |
ORPHA:3226 |
Sitosterolemia 1 |
|
Abnormal bleeding, Giant platelets, Arthritis, Xanthelasma, Hypercholesterolemia, Impaired platel... |
OMIM:210250 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Isolated Osteopoikilosis |
|
Increased bone mineral density, Abnormally ossified vertebrae, Sclerosis of foot bone, Episodic p... |
ORPHA:166119 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyr... |
ORPHA:79259 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circul... |
OMIM:613101 |
Familial Cold Urticaria |
|
Fatigue, Abdominal pain, Arthritis, Arthralgia, Myalgia, Conjunctivitis, Polydipsia |
ORPHA:47045 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Gastroparesis, Abnormality of the end... |
ORPHA:79329 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Reduced natural killer cel... |
OMIM:616050 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Inflammation of the large ... |
OMIM:203300 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Decreased circulating antibody level, Neurogenic bladder, Impaired collagen-in... |
OMIM:604928 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... |
OMIM:619164 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Death in infancy, Necrotizing enterocolitis, Axial hypotonia, Abdominal pain, Feeding difficultie... |
OMIM:616809 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Splenomegaly, Hypotonia, Cardiomyopathy, Hypogonadism, Generalize... |
OMIM:608540 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hematuria, Internal hemorrhage |
ORPHA:90308 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology |
ORPHA:3318 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ... |
ORPHA:3261 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Generalized hypotonia, N... |
OMIM:603585 |
Benign Schwannoma |
|
Pain, Allodynia |
ORPHA:252164 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Death in childhood, Death in infancy, P... |
OMIM:243150 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Shigellosis |
|
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C... |
ORPHA:810 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... |
OMIM:232220 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Epistaxis |
ORPHA:46488 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Death in infancy, Diarrhea, Colitis |
OMIM:219095 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Aminoaciduria, Galactosuria, Vomiting, Generaliz... |
OMIM:230350 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Neutropenia, Oliguria, J... |
ORPHA:90051 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Death in infancy, Impaired T cell function, Unilateral renal agenesis... |
OMIM:614576 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Vomi... |
ORPHA:37042 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... |
OMIM:614700 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Myositis, Pericarditis, Skin rash, Gastriti... |
ORPHA:809 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin rash, Reduced natural killer ce... |
ORPHA:540 |
Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... |
OMIM:614077 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea |
OMIM:619398 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Hypot... |
OMIM:269920 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... |
ORPHA:2137 |
Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer |
OMIM:613244 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Hypotonia, Abnormal circulating cal... |
ORPHA:417 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di... |
OMIM:619281 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... |
OMIM:619079 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Dystonia, Anorexia, Abdominal pain, Throm... |
ORPHA:79312 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... |
OMIM:608233 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... |
OMIM:604416 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Hypertension, Polycysti... |
OMIM:618061 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... |
OMIM:618394 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephaliti... |
ORPHA:391487 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Sple... |
OMIM:618935 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... |
ORPHA:2968 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br... |
OMIM:617638 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe... |
ORPHA:90068 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Hemoglob... |
ORPHA:90038 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Genital ulcers, Colitis, Ileal ulcer, Lymphopenia,... |
OMIM:616744 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Inflammation of the large intestine, Nephropathy, Pr... |
OMIM:301000 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, Hypog... |
OMIM:613313 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism, Hypotonia |
ORPHA:1875 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Thrombo... |
ORPHA:721 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Congestiv... |
ORPHA:79083 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Shivering, Nonproductive cough, Tachypnea, Dyspnea, Pneum... |
ORPHA:36238 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa... |
OMIM:232240 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Feeding difficulties, Amino... |
ORPHA:79238 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Hyperlipidemia, Nephrolithiasis, Gout, Hyper... |
OMIM:232200 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Autoimmunity |
OMIM:222100 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Eczema, Abdominal pain, Congestive heart failure, Lymphadenitis, Dilated cardiomyop... |
OMIM:615895 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... |
ORPHA:171 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Hepatic fibrosis, Vomiting, Hepatic steatosis, Nausea, Hepatomegaly, Cardiomyopathy... |
ORPHA:264580 |
Babesiosis |
|
Nausea and vomiting, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Myocardial infarction, ... |
ORPHA:108 |
Whipple Disease |
|
Fatigue, Gastrointestinal hemorrhage, Pericarditis, Myositis, Anorexia, Abdominal pain, Myocardia... |
ORPHA:3452 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Congestive h... |
ORPHA:2348 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Fe... |
ORPHA:98813 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Abdominal pain, Con... |
OMIM:235200 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete... |
ORPHA:2795 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Hot flashes, Hypersexuality, Sweet crav... |
ORPHA:33543 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, In... |
ORPHA:3260 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... |
OMIM:618999 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Diabetes mellitus, Abdominal pain |
ORPHA:46487 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... |
OMIM:603909 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Vasculitis, Uveitis, Nephrot... |
ORPHA:575 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions... |
ORPHA:544482 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... |
OMIM:209920 |
Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... |
OMIM:615767 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Vira... |
ORPHA:91138 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Abnormal circul... |
ORPHA:314478 |
Legionnaires Disease |
|
Nausea and vomiting, Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Abdominal pain, My... |
ORPHA:549 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Dysuria, Eczema, Allergic r... |
OMIM:618131 |
Macs Syndrome |
|
Prolonged bleeding time, Urethral stenosis, Bronchiectasis, Recurrent aphthous stomatitis, Bruisi... |
OMIM:613075 |
Acute Lung Injury |
|
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... |
ORPHA:178320 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Gastrointestinal ... |
ORPHA:342 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Hypotoni... |
OMIM:603552 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ... |
ORPHA:93126 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Ne... |
ORPHA:398124 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Rheumatoid Arthritis |
|
Fatigue, Rheumatoid factor positive, Joint stiffness, Vasculitis, Anti-citrullinated protein anti... |
OMIM:180300 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi... |
ORPHA:2686 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, High palate, Abnormal auditory evoked potentials |
OMIM:617523 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, ... |
ORPHA:99745 |
Syndromic Diarrhea |
|
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He... |
ORPHA:84064 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Methanol Poisoning |
|
Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Permanent atrial fibrillation, Inflam... |
ORPHA:31825 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Abdominal symptom, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:79443 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... |
OMIM:162000 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, A... |
ORPHA:465508 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Nausea a... |
ORPHA:36412 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Death in infancy, Abnormality of the spleen, Splenomegaly, Hypotonia,... |
ORPHA:85212 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... |
ORPHA:100024 |
Cirrhotic Cardiomyopathy |
|
Exercise intolerance, Prolonged QT interval, Elevated jugular venous pressure, Left ventricular d... |
ORPHA:57777 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hyperactivity, Atrial fibrillation, Autoimmunity, Craniosynostosis, Keratitis, Neon... |
ORPHA:525731 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Coach Syndrome 1 |
|
Hepatomegaly, Dystonia, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen morpholo... |
OMIM:216360 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Acne, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Increased serum... |
ORPHA:247768 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Orthostatic Hypotension 2 |
|
Anemia, Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Vomiting, Uric acid urolithia... |
ORPHA:94088 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... |
ORPHA:26790 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Bronchiectasis, Cough |
OMIM:619468 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... |
OMIM:619381 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu... |
ORPHA:37748 |
Scrub Typhus |
|
Nausea and vomiting, Anterior uveitis, Renal insufficiency, Skin rash, Abdominal pain, Splenomega... |
ORPHA:83317 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypertonia, Generalized hypoton... |
OMIM:615846 |
Lcat Deficiency |
|
Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Proteinuria, Stage 5 chronic kidney ... |
ORPHA:650 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Death in childhood, Nephritis, Hepatom... |
OMIM:617303 |
Immunodeficiency 40 |
|
Hepatomegaly, Rectal fistula, Recurrent pneumonia, Chronic diarrhea, T lymphocytopenia, Interstit... |
OMIM:616433 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Vasculitis, Arthritis, In... |
ORPHA:324964 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Esophagitis |
ORPHA:1901 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Abdominal pain, Joint swelling, Arthralg... |
ORPHA:85414 |
Acute Promyelocytic Leukemia |
|
Fatigue, Epistaxis, Anorexia, Abdominal pain, Productive cough, Diffuse alveolar hemorrhage, Bone... |
ORPHA:520 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Diarrhea, Irregular menstruation,... |
ORPHA:79240 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Co... |
OMIM:614602 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Hepatocellular carcinoma, Thrombocyto... |
ORPHA:158057 |
Acquired Purpura Fulminans |
|
Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrh... |
ORPHA:49566 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Menorrhagia, Myeloid leukemi... |
ORPHA:331 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, ... |
OMIM:603903 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... |
OMIM:278000 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Acute colitis, Abdominal pain, Congestive heart failure, L... |
ORPHA:67 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... |
ORPHA:3386 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hepa... |
ORPHA:167 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Decreased mean platelet vol... |
OMIM:617718 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I... |
OMIM:615285 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Raynaud phenomenon, Antinuclear antibo... |
ORPHA:206572 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Abnormal eating behavior, Ast... |
ORPHA:209905 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Increased circulat... |
ORPHA:99827 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urinary potassium,... |
OMIM:613090 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Internal hemorrhage, Prolonged prothrombin time, Gingival bleeding, Micropenis... |
ORPHA:335 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sinusitis, ... |
OMIM:613179 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Generalize... |
ORPHA:488627 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Lymph... |
OMIM:209950 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, N... |
OMIM:607594 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Pericarditis, Sinusitis, Thromboc... |
ORPHA:47612 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased ser... |
ORPHA:280365 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia... |
OMIM:170100 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Abdominal pain, Hypersplenism, Thrombocytopeni... |
ORPHA:77259 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Noonan Syndrome |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Feeding difficulties in infancy, Abnormality of the ... |
ORPHA:648 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosp... |
OMIM:612526 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P... |
OMIM:249100 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Hyperkeratosis, Colitis |
OMIM:301220 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Abnormality of ... |
OMIM:612840 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Peptic ulcer, Sp... |
ORPHA:90041 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... |
ORPHA:206443 |
Lymphoid Interstitial Pneumonia |
|
Fatigue, Skin rash, Eczema, Crackles, Autoimmunity, Raynaud phenomenon, Dyspnea, Wheezing, Autoim... |
ORPHA:79128 |
Ochoa Syndrome |
|
Hypertension, Polydipsia, Urinary incontinence, Bowel incontinence |
ORPHA:2704 |
Majeed Syndrome |
|
Glomerulopathy, Hepatomegaly, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli... |
ORPHA:77297 |
Plague |
|
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf... |
ORPHA:707 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis |
ORPHA:403 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abdo... |
ORPHA:793 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphocytic inters... |
OMIM:618495 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin... |
OMIM:608594 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Hepatic steatosis, Decreased proportion ... |
OMIM:619573 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Gonadoblastoma |
|
Abdominal pain, Female external genitalia in individual with 46,XY karyotype, Abdominal distentio... |
ORPHA:206484 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ... |
OMIM:269700 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Abdo... |
OMIM:615688 |
Reactive Arthritis |
|
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal ... |
ORPHA:29207 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... |
OMIM:208540 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis,... |
ORPHA:39041 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti... |
ORPHA:99147 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... |
OMIM:616100 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:99413 |
Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:881 |
Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:99226 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Prolonged prothrombin time... |
OMIM:613070 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... |
OMIM:614878 |
Relapsing Fever |
|
Abnormal bleeding, Epistaxis, Hematuria, Prolonged prothrombin time, Abnormality of the urinary s... |
ORPHA:91547 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Anorexia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephrit... |
ORPHA:91500 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Recurrent skin infections, Phimosis, Esophageal stricture, Neoplasm of the ur... |
ORPHA:2908 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Intrahep... |
OMIM:606812 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Re... |
ORPHA:18 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Anorex... |
OMIM:181000 |
Central Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:178029 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Glomerulo... |
ORPHA:117 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hepatomegaly, A... |
OMIM:276700 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, A... |
ORPHA:464329 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Feeding difficulties in infancy, Splenomegaly, Primary... |
OMIM:239200 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatic failure, Hepatitis, Diarr... |
OMIM:613812 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Mucopolysacchariduria, Rhinitis, Spastic parapa... |
ORPHA:93474 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Gastroesophageal r... |
ORPHA:2414 |
Q Fever |
|
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious... |
ORPHA:781 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... |
OMIM:301068 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Lacunar stroke, Macro... |
OMIM:618440 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fatigue, Low back pain, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivasc... |
ORPHA:49041 |
Brucellosis |
|
Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Increased cir... |
ORPHA:1304 |
Gamma-Heavy Chain Disease |
|
Fatigue, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteo... |
ORPHA:100026 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Aganglionic megacolon, Abnormality of the kidney, N... |
OMIM:209900 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Intestinal pseudo-obstruction, Heparan sulfate excretion in urine, Congestive heart... |
OMIM:309900 |
Cystinosis |
|
Fatigue, Portal hypertension, Rickets, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:251274 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary ... |
ORPHA:70591 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Iron deficiency anemia,... |
OMIM:301074 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Death in infancy, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectas... |
OMIM:235255 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Nausea, Protein avoidance, Thrombocytopenia, Splenomegaly, Malnutrition, Diarrhea, ... |
OMIM:222700 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Renal cyst, Prolonged prothrombin time, Steatorrhea |
ORPHA:79303 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... |
ORPHA:85410 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Splenomeg... |
ORPHA:565612 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Axial hypotonia, Splenomegaly, Schistocytosis, Hypotonia, Hypochromic micro... |
OMIM:616084 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Sple... |
OMIM:613327 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegaly, Peria... |
OMIM:612541 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90033 |
Hurler Syndrome |
|
Hepatomegaly, Death in infancy, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Chroni... |
ORPHA:93473 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Congestive heart failur... |
OMIM:615512 |
Erdheim-Chester Disease |
|
Fatigue, Increased bone mineral density, Osteomyelitis, Skin rash, Abdominal pain, Dyspnea, Conge... |
ORPHA:35687 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym... |
ORPHA:1655 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... |
ORPHA:131 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Gonadal calc... |
ORPHA:314473 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, H... |
OMIM:616589 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... |
OMIM:615190 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Hepatomegaly, Epistaxis, Abn... |
ORPHA:33226 |
Herpes Simplex Virus Encephalitis |
|
Fatigue, Chills, Respiratory failure requiring assisted ventilation, Addictive alcohol use |
ORPHA:1930 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Myasthenia Gravis |
|
Myositis, Raynaud phenomenon, Dyspnea, Anti-acetylcholine receptor antibody positivity, Anti-musc... |
ORPHA:589 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, V... |
OMIM:230500 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Wilson Disease |
|
Acute hepatic failure, Hepatocellular carcinoma, Osteoarthritis, Aminoaciduria, Vomiting, Limb dy... |
OMIM:277900 |
African Trypanosomiasis |
|
Urinary incontinence, Conjunctivitis, Vomiting, Iritis, Nausea, Abnormal EKG, Hepatomegaly, Abnor... |
ORPHA:3385 |
Gitelman Syndrome |
|
Fatigue, Prolonged QT interval, Salt craving, Abdominal pain, Ventricular tachycardia, Arthralgia... |
OMIM:263800 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Splenomegaly, Hypotonia, Decreased circulating antibody level, Hy... |
OMIM:605309 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural killer cell activity... |
OMIM:603553 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Hydroureter |
OMIM:616559 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Hypertonia, Vomiting, Gas... |
OMIM:270400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... |
OMIM:102700 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Feeding difficulties in infancy, Splenomegaly, Micronodular ci... |
OMIM:251880 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Dilatation of the renal pelvis, Bronchiectasis, Dysphagia, Inflammation of the large intestine, R... |
OMIM:619708 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Flank pain, Congestive... |
ORPHA:31826 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... |
ORPHA:331235 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Meconium Ileus |
|
Microcolon, Meconium ileus |
OMIM:614665 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Leukocyt... |
OMIM:260920 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... |
ORPHA:98849 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... |
ORPHA:101085 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Arthralgia, Cholecystitis, Fatigue, Psoriasiform dermatitis, Epid... |
ORPHA:183675 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Hypotonia, Feeding difficulties, Nephrocalcinosis, Hypertension, ... |
OMIM:617913 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Giant cell hepatitis, Prolonged prothrombin time |
OMIM:214950 |
Toxic Epidermal Necrolysis |
|
Fatigue, Respiratory distress, Gastrointestinal hemorrhage, Sudden cardiac death, Abdominal pain,... |
ORPHA:537 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i... |
OMIM:253260 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, Periodontitis, Hepatomegaly, Abnormal morphology o... |
ORPHA:1775 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... |
ORPHA:53035 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Polydipsia, Palpitations, Epistaxis |
ORPHA:231580 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Fasciitis, Myositis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S... |
ORPHA:32960 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Genita... |
OMIM:602450 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio... |
OMIM:230800 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Frontometaphyseal Dysplasia 2 |
|
Neurogenic bladder, Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Ulcerative... |
OMIM:617137 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... |
OMIM:610199 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... |
OMIM:602782 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Xanthe... |
ORPHA:30391 |
Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Tubulointerstitial nephritis, Arthralgia, Prominent U... |
ORPHA:358 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Cardiomegaly, Elevated circulating thyroid-stimulating hormone concentration, ... |
OMIM:256040 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... |
OMIM:232300 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Hypotonia, Spasticity, ... |
ORPHA:163746 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab... |
ORPHA:90340 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time, Acute kidney injury... |
ORPHA:244242 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Proteinuria, Renal cyst, Steatorrhea, Nephrotic syndrome, Prolonged prothrombin tim... |
OMIM:212065 |
Celiac Disease, Susceptibility To, 1 |
|