Glanzmann Thrombasthenia 2 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... |
OMIM:619267 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... |
OMIM:209050 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... |
OMIM:619130 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 24 |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... |
OMIM:619271 |
Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
Bleeding Disorder, Platelet-Type, 22 |
|
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts |
OMIM:618462 |
Glanzmann Thrombasthenia 1 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... |
OMIM:273800 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:615888 |
Bleeding Disorder, Platelet-Type, 8 |
|
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... |
OMIM:609821 |
Glanzmann Thrombasthenia |
|
Ecchymosis, Macroscopic hematuria, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistax... |
ORPHA:849 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist... |
OMIM:173470 |
Bernard-Soulier Syndrome |
|
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... |
OMIM:231200 |
Lynch Syndrome I |
|
Colon cancer |
OMIM:120435 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Abnormality of the urinary system, Prolonged bleeding time, Giant platelets, Abnormal bleeding, T... |
OMIM:600208 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets |
OMIM:608404 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:613244 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Von Willebrand Disease, Type 3 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocyto... |
OMIM:277480 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... |
OMIM:614009 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Fechtner syndrome |
|
Menorrhagia, Hematuria, Nephritis, Stage 5 chronic kidney disease, Prolonged bleeding time, Giant... |
OMIM:153640 |
Bleeding Disorder, Platelet-Type, 11 |
|
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, Platelet ... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 14 |
|
Ecchymosis, Epistaxis, Prolonged bleeding time, Bruising susceptibility |
OMIM:614158 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Menorrhagia, Eczema, Thrombocytopenia, Impaired platelet aggregation |
OMIM:617443 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Gray Platelet Syndrome |
|
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... |
OMIM:139090 |
Factor V Deficiency |
|
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... |
OMIM:227400 |
Bleeding Disorder, Platelet-Type, 12 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... |
OMIM:605735 |
Myh9-Related Disease |
|
Menorrhagia, Increased mean platelet volume, Nephritis, Spontaneous, recurrent epistaxis, Prolong... |
ORPHA:182050 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea |
OMIM:617442 |
Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
Hemophilia B |
|
Intracranial hemorrhage, Joint hemorrhage, Hematuria, Spontaneous, recurrent epistaxis, Cephalohe... |
ORPHA:98879 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Menorrhagia, Epistaxis, Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytop... |
OMIM:155100 |
Quebec Platelet Disorder |
|
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... |
OMIM:601709 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Von Willebrand Disease, Type 1 |
|
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... |
OMIM:193400 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Sebastian syndrome |
|
Thrombocytopenia, Epistaxis, Prolonged bleeding time, Giant platelets |
OMIM:605249 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Epistaxis, Prolonged bleeding time, Abnormal alpha granule conten... |
OMIM:601399 |
Slc35A1-Cdg |
|
Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged b... |
ORPHA:238459 |
Prothrombin Deficiency, Congenital |
|
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... |
OMIM:613679 |
Trigeminal Neuralgia |
|
Allodynia, Mandibular pain, Trigeminal neuralgia, Ocular pain |
ORPHA:221091 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Bernard-Soulier Syndrome |
|
Macroscopic hematuria, Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein... |
ORPHA:274 |
Complex Regional Pain Syndrome |
|
Allodynia, Limb pain |
ORPHA:83452 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Epistaxis, Impaired platelet aggregation, Bruising susceptibility |
OMIM:614076 |
Immunodeficiency 81 |
|
Petechiae, Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Impaired ... |
OMIM:619374 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic polyposis, Colon ... |
OMIM:610069 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... |
OMIM:614075 |
Bleeding Disorder, Platelet-Type, 17 |
|
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... |
OMIM:187900 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Bruising susceptibility |
OMIM:314050 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia, Abdominal pain, Back pain |
ORPHA:51890 |
Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Skin rash |
ORPHA:1059 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... |
OMIM:617006 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding |
OMIM:185050 |
Congenital Factor Ii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... |
ORPHA:325 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea |
OMIM:614324 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate... |
ORPHA:85450 |
Hermansky-Pudlak Syndrome 5 |
|
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... |
OMIM:614074 |
Neurotrophic Keratopathy |
|
Allodynia, Anterior uveitis |
ORPHA:137596 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Vomiting, Calcium oxalate nephrolithiasis, Enterocolitis, Diarrhea, Increased level o... |
OMIM:260005 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Impaired platelet aggregation, Nephrocalcinosis, Increased ... |
OMIM:241200 |
Combined Deficiency Of Factor V And Factor Viii |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Hyperlipidemia, Prolonged prothrombin ti... |
ORPHA:35909 |
Trimethylaminuria |
|
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria |
OMIM:602079 |
Sitosterolemia 1 |
|
Arthritis, Hypercholesterolemia, Giant platelets, Abnormal bleeding, Impaired platelet aggregation |
OMIM:210250 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Dysphagia, High palate, Absent brainstem auditory responses, Facial palsy, Sensorineural hearing ... |
OMIM:617519 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Vomiting, Nephrocalcinosis, Increased urinary potassium, Hy... |
OMIM:601678 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circu... |
OMIM:300635 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Benign Schwannoma |
|
Pain, Allodynia |
ORPHA:252164 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hepatic calcification, Nephrocalcinosis, Abnormal renal resorption, Hyper... |
ORPHA:73224 |
Hermansky-Pudlak Syndrome 8 |
|
Menorrhagia, Gingival bleeding, Epistaxis, Abnormal bleeding, Impaired platelet aggregation, Brui... |
OMIM:614077 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Epistaxis, Impaired collagen-ind... |
OMIM:619172 |
Coproporphyria, Hereditary |
|
Hypertension, Hepatomegaly, Constipation, Vomiting, Tachycardia, Increased fecal coproporphyrin 3... |
OMIM:121300 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Amyloidosis, Familial Visceral |
|
Hypertension, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Skin rash, Nephropathy, ... |
OMIM:105200 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Dystonia, Hepatomegaly, Nephrotic syndrome, Feeding difficulties, Splenomegaly... |
OMIM:615846 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Gingival bleeding, Colitis, Epistaxis, Prolonged bleeding ti... |
OMIM:203300 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Dysphagia, Esophageal neoplasm, Abnormal large intestine morpholog... |
ORPHA:2198 |
Congenital Factor X Deficiency |
|
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:328 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet function, ... |
ORPHA:906 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypotonia, Death in infancy, Hepatocellular necrosis, ... |
OMIM:201475 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypo... |
OMIM:602390 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Elevated urinary prostaglandin E2 level, Acne |
OMIM:167100 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Gingival bleeding, Pneumonia, Increased c... |
OMIM:600903 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Chronic otitis media, Bone marrow hypocellularity, Prolonged bleeding ti... |
ORPHA:3226 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic nipples, Impaired platele... |
ORPHA:79329 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Decreased circulating antibody level, Neurogenic bladder, Impaired collagen-in... |
OMIM:604928 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Tubuloin... |
ORPHA:79259 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Recurrent otitis media, Splenomegal... |
OMIM:618495 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Cardiomyopathy, Splenomegaly, Hypogonadism, Generalized hypotonia... |
OMIM:608540 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Chronic diarrhea, Recurrent ... |
OMIM:619164 |
Familial Cold Urticaria |
|
Polydipsia, Arthritis, Arthralgia, Myalgia, Fatigue, Abdominal pain, Conjunctivitis |
ORPHA:47045 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hypotonia, Hyperactive renin-angiotensin system, Vomiting, Nephrocalcinosis, Increased urinary po... |
ORPHA:89938 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Villous atrophy, Thrombocytopenia, Reduced natural killer cell a... |
OMIM:616050 |
Gastric Volvulus, Intrathoracic |
|
Volvulus, Hiatus hernia |
OMIM:137210 |
Klippel-Trénaunay Syndrome |
|
Hematuria, Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage |
ORPHA:90308 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, De... |
ORPHA:730 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Functional intestinal obstruction, Intestin... |
OMIM:243180 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Thrombocytopenia, Abnormal platelet morphology, Impaired platelet aggregation |
OMIM:300835 |
Essential Thrombocythemia |
|
Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time |
ORPHA:3318 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Nephroti... |
ORPHA:911 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... |
ORPHA:3261 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:327 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Shigellosis |
|
Myocarditis, Tenesmus, Hemolytic-uremic syndrome, Uveitis, Abdominal pain, Conjunctivitis, Leukoc... |
ORPHA:810 |
Linear Iga Dermatosis |
|
Renal neoplasm, Epistaxis, Inflammation of the large intestine |
ORPHA:46488 |
Galactosemia Iii |
|
Hepatomegaly, Vomiting, Splenomegaly, Generalized hypotonia, Hypotonia, Aminoaciduria, Galactosur... |
OMIM:230350 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Inflammation of the large intestine, Death in infancy, Esophageal varix, Pancytopen... |
OMIM:614576 |
Mixed Connective Tissue Disease |
|
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Arthritis, Gastritis, Gastrointe... |
ORPHA:809 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Death in infancy, Colitis, Diarrhea |
OMIM:219095 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Macr... |
OMIM:603585 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Enlarged platelet dense granules, Absent platelet dense gra... |
OMIM:608233 |
Sepsis In Premature Infants |
|
Leukocytosis, Hepatomegaly, Neutropenia, Vomiting, Functional abnormality of the gastrointestinal... |
ORPHA:90051 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis |
OMIM:619398 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, High palate, Nephrotic syndrome, Ascites, Vacuolated lymphocytes, Cardiomegaly, Spl... |
OMIM:269920 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Type I diabetes mell... |
OMIM:614700 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Infectious encephalitis, Erythroderma, Neutropenia, Lymphadenopathy, Abnormal renal... |
ORPHA:540 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutropenia, Neutropenia in ... |
ORPHA:37042 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Impaired platelet aggregatio... |
ORPHA:2968 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... |
OMIM:619350 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function |
ORPHA:2585 |
Autoimmune Hepatitis |
|
Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclero... |
ORPHA:2137 |
Pregnancy Loss, Recurrent, Susceptibility To, 3 |
|
Recurrent spontaneous abortion |
OMIM:614391 |
Pregnancy Loss, Recurrent, Susceptibility To, 2 |
|
Recurrent spontaneous abortion |
OMIM:614390 |
Pregnancy Loss, Recurrent, Susceptibility To, 1 |
|
Recurrent spontaneous abortion |
OMIM:614389 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of t... |
ORPHA:417 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Superficial dermal perivascular inflammator... |
ORPHA:324636 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Nausea and vomiting, Anorexia, Neutropenia, Hepatomegaly, Feeding difficulties, Anemia,... |
ORPHA:79312 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Thrombocytosis, Acne, Arthritis, Hepatosplenomegaly, Microcytic a... |
OMIM:604416 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Decreased glomerular filtration rate, Hepatic cysts, Gout, Stage 5 chronic kidney d... |
OMIM:618061 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... |
OMIM:618394 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Abdominal pain... |
ORPHA:90068 |
Factor X Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
OMIM:227600 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Rectal prolapse, Intussusception, Colonic stenosis, Diarrhea, Abdominal pain, Hypertension, Leuko... |
ORPHA:90038 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Dysphagia, Neutropenia, Decreased circulating IgG le... |
OMIM:608809 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Abnormality of the menstrual cycle, Epistaxis, Splenomegaly, Thrombo... |
ORPHA:721 |
Hemochromatosis, Type 2B |
|
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Hypog... |
OMIM:613313 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Esophageal varix, Portal fibrosis, Splenomegaly, Diarrhea, Abnormal erythrocyte enzyme level, Hep... |
ORPHA:370 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Diarrhea |
OMIM:269840 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Hemolytic anemia, Anterior uveitis, Ileal ulcer, Skin rash, Lymphopenia, Thrombocytopenia, Genita... |
OMIM:616744 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Nephrotic syndrome, Lymphadenitis, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, ... |
OMIM:618935 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Eczema, Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies, Hepa... |
ORPHA:391487 |
Macs Syndrome |
|
Urethral stenosis, Prolonged bleeding time, Bruising susceptibility, Bronchiectasis |
OMIM:613075 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Hypotonia, Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Celiac disea... |
OMIM:618969 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... |
OMIM:615559 |
Wiskott-Aldrich Syndrome |
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Eczema, Inflammation of the large intestine, Gingival bleeding, Petechiae, Increased circulating ... |
OMIM:301000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal tubular atrophy, Hypertension, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Glycogen Storage Disease Ia |
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Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hyperlipidemia, Hepatocellular ca... |
OMIM:232200 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Feeding difficulties, Splenomegaly, Hypotonia, Aminoaciduria, ... |
ORPHA:79238 |
Dentinogenesis Imperfecta |
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Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... |
ORPHA:2442 |
Babesiosis |
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Nausea and vomiting, Hepatomegaly, Anorexia, Leukopenia, Splenomegaly, Myocardial infarction, Con... |
ORPHA:108 |
Pparg-Related Familial Partial Lipodystrophy |
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Hypertrophic cardiomyopathy, Hypertension, Secondary amenorrhea, Maternal diabetes, Dysmenorrhea,... |
ORPHA:79083 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Esophageal varix, Portal fibrosis, Splenomegaly, Diarrhea, Abnormal erythrocyte enzyme level, Hep... |
ORPHA:264580 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Otitis media, ... |
OMIM:608971 |
Primary Sclerosing Cholangitis |
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Neoplasm of the gallbladder, Cholangiocarcinoma, Prolonged prothrombin time, Hepatitis, Splenomeg... |
ORPHA:171 |
Hemochromatosis, Type 1 |
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Testicular atrophy, Telangiectasia, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcino... |
OMIM:235200 |
Diarrhea 8, Secretory Sodium, Congenital |
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Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Glycogen Storage Disease Ib |
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Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Neutropenia, Hyperlipidemia, Hepa... |
OMIM:232220 |
Primary Lipodystrophy |
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Hypertension, Type II diabetes mellitus, Hyperlipidemia, Polycystic ovaries, Cardiomyopathy, Panc... |
ORPHA:90970 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries... |
ORPHA:2348 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, female, Isosexual ... |
ORPHA:90795 |
Inflammatory Bowel Disease 3 |
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Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
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Ulcerative colitis |
OMIM:612354 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Bare Lymphocyte Syndrome, Type Ii |
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Cholangitis, Agammaglobulinemia, Infectious encephalitis, Villous atrophy, Neutropenia, Biliary t... |
OMIM:209920 |
Hemorrhagic Fever-Renal Syndrome |
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Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... |
ORPHA:340 |
Type 1 Diabetes Mellitus |
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Autoimmunity, Polyphagia, Polydipsia |
OMIM:222100 |
Zygomycosis |
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Myocarditis, Sinusitis, Colon perforation, Neutropenia, Fasciitis, Hepatitis, Melena, Gastritis, ... |
ORPHA:73263 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili... |
OMIM:618999 |
Infection-Related Hemolytic Uremic Syndrome |
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Myocarditis, Septic arthritis, Intussusception, Diabetes mellitus, Diarrhea, Hemolytic anemia, Ab... |
ORPHA:544482 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Cholangitis, Eczema, Feeding difficulties in infancy, Portal fibrosis, Ab... |
ORPHA:3260 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Gastrointestinal infarctions, Mediastinal lymphadenopat... |
ORPHA:91138 |
Familial Mediterranean Fever |
|
Lymphadenopathy, Splenomegaly, Vasculitis, Nephropathy, Diarrhea, Abdominal pain, Nausea and vomi... |
ORPHA:342 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Legionnaires Disease |
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Myocarditis, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis, Endocarditis, ... |
ORPHA:549 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hy... |
ORPHA:90794 |
Immunodeficiency, Common Variable, 11 |
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Inflammation of the large intestine, Mucoid diarrhea, Decreased proportion of class-switched memo... |
OMIM:615767 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Urinary retention, Amenorrhea, Dysuria, Ac... |
ORPHA:2795 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
Epidermolysis Bullosa Acquisita |
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Abdominal pain, Inflammation of the large intestine, Diabetes mellitus |
ORPHA:46487 |
Cholestasis-Lymphedema Syndrome |
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Nausea and vomiting, Hepatomegaly, Hyperlipidemia, Acholic stools, Abnormality of urine homeostas... |
ORPHA:1414 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Colitis, Congenital hypothyroidism |
ORPHA:88643 |
Muckle-Wells Syndrome |
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Hepatomegaly, Episcleritis, Nephrotic syndrome, Abdominal pain, Anemia, Arthritis, Splenomegaly, ... |
ORPHA:575 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Skin rash, Hypertrigl... |
OMIM:603552 |
Gaucher Disease Type 2 |
|
Dystonia, Dysphagia, Hepatomegaly, Splenomegaly, Cardiac arrest, Spasticity |
ORPHA:77260 |
Immunodeficiency 58 |
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Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Dysphagia, Helico... |
OMIM:618131 |
Burkitt Lymphoma |
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Nausea and vomiting, Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymp... |
ORPHA:543 |
Alpha-Heavy Chain Disease |
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Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... |
ORPHA:100025 |
Whipple Disease |
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Myocarditis, Pericarditis, Respiratory insufficiency, Polydipsia, Infectious encephalitis, Myosit... |
ORPHA:3452 |
Ovarian Fibrothecoma |
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Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Asc... |
ORPHA:314478 |
Glycogen Storage Disease Ic |
|
Spider hemangioma, Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hyperlipidemia... |
OMIM:232240 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Cholangiocarcinoma, Splenomegaly, Diabetes mellitus, Portal hypertension, Abdominal pain, Inferti... |
ORPHA:465508 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Neutropenia, Splenomegaly, Maculopapular exanthema, Hyperkeratosis, Pancy... |
ORPHA:398124 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... |
ORPHA:263665 |
Rheumatoid Arthritis |
|
Polyarticular arthritis, Rheumatoid factor positive, Arthralgia, Fatigue, Vasculitis, Rheumatoid ... |
OMIM:180300 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... |
ORPHA:93126 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, ... |
OMIM:256550 |
Typhoid |
|
Hepatomegaly, Infectious encephalitis, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Hype... |
ORPHA:99745 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Colitis, Infectious encephalitis, Decreased proportion of c... |
OMIM:616098 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Syndromic Diarrhea |
|
Hypoplasia of the thymus, Splenomegaly, Gastritis, Increased mean platelet volume, Villous atroph... |
ORPHA:84064 |
Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Lymphadenopathy, Decreased eosinophil count, Recurrent tonsillitis, Perio... |
ORPHA:2686 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis, Limitation of joint mobility, G... |
ORPHA:399180 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hepatomegaly, Splenomegaly, Skin rash, Hypertriglyceridemia |
OMIM:619175 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Glomerulopathy, Hepatomegaly, Episcleritis, Ascites, Lymphadenopathy, Hematu... |
ORPHA:36412 |
Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Hypertension, Prolonged QT interval, Oligomenorrh... |
ORPHA:79443 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... |
ORPHA:95427 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Dysphagia, Abnormality of somatosensory evoked potentials, Absent brainstem audito... |
ORPHA:52368 |
Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Cleft palate, Sensorineural h... |
OMIM:201050 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Intracranial hemorrhage, Death in infancy, High palate, ... |
ORPHA:85212 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatomegaly, Esophageal varix, Pancreatic cysts, Neonatal death, Tubulointerstitia... |
OMIM:263200 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Infectious encephalitis, Neutropenia, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Coach Syndrome 1 |
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Hypertension, Dystonia, Hepatomegaly, Esophageal varix, Hepatic fibrosis, Nephronophthisis, Multi... |
OMIM:216360 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Vasculitis, Increas... |
ORPHA:37748 |
Scrub Typhus |
|
Myocarditis, Nausea and vomiting, Infectious encephalitis, Lymphadenopathy, Anterior uveitis, Spl... |
ORPHA:83317 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Splenomegaly, Hypertrophic cardiomyopathy, Nephrotic syndrome, Bone marrow hypocellu... |
OMIM:617303 |
Adrenocortical Carcinoma |
|
Hypertension, Increased urinary cortisol level, Abnormality of reproductive system physiology, In... |
ORPHA:1501 |
Immunodeficiency 52 |
|
Death in infancy, Bronchiectasis, Lymphadenopathy, Coombs-positive hemolytic anemia, Increased pr... |
OMIM:617514 |
Congenital Factor Xiii Deficiency |
|
Cerebral hemorrhage, Recurrent spontaneous abortion, Menorrhagia, Inflammation of the large intes... |
ORPHA:331 |
Beta-Thalassemia Intermedia |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Prolonged prothrombin time, Epistaxis, Abnormal bleeding |
OMIM:610842 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Ascites, Lymphadenopathy, Abnormality o... |
ORPHA:26790 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Hypertension, Renal tubular atrophy, Abnormal nephron morphology, Abn... |
ORPHA:2260 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Pericarditis, Anterior uveitis, Arthralgia, Joint swelling, Juvenile rheumatoid art... |
ORPHA:85414 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... |
ORPHA:324964 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Vomiting, Hepatocellular carcinoma, Na... |
ORPHA:79240 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... |
OMIM:619079 |
Lcat Deficiency |
|
Hemolytic anemia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kid... |
ORPHA:650 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Splenomegaly, Congestive heart failure, Abnormal urinary color, Arrhythmia, Abd... |
ORPHA:98375 |
Pediatric-Onset Graves Disease |
|
Hypertension, Nausea and vomiting, Increased circulating T4 level, Hepatomegaly, Atrial fibrillat... |
ORPHA:525731 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Increased serum testosterone level, Cleft palate, Renal agenesis, Abnor... |
ORPHA:247768 |
Roifman Syndrome |
|
Hepatomegaly, Eczema, Noncompaction cardiomyopathy, Lymphadenopathy, Recurrent otitis media, Sple... |
OMIM:616651 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Abdominal pain, Intestinal obstruction, Crohn's disease, Rec... |
OMIM:266600 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Bloody diarrhea, Leukocytosis, Protracted diarrhea, Gastrointestinal d... |
ORPHA:67 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Aganglionic megacolon, Infectious encephalitis, Abnormal large intesti... |
ORPHA:3386 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... |
ORPHA:470 |
Microcolon |
|
Microcolon |
OMIM:251400 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Adrenal insufficiency, Thrombocytopenia, Subdural hemorrhage, Lymphadenopathy, Melen... |
ORPHA:99827 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Hemophagocytosis, Neutropenia, Hepatocellular carcinoma, Abnormal r... |
ORPHA:158057 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... |
ORPHA:848 |
Sickle Cell Anemia |
|
Hypertension, Leukocytosis, Hepatomegaly, Priapism, Hematuria, Cardiomegaly, Cholelithiasis, Sple... |
OMIM:603903 |
Hereditary Renal Hypouricemia |
|
Uric acid urolithiasis independent of gout, Vomiting, Nausea, Abnormal renal physiology, Hematuri... |
ORPHA:94088 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Death in infancy, Esophageal varix, Bone-marrow foam cells, Splenomegaly, ... |
OMIM:278000 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... |
ORPHA:882 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... |
ORPHA:1046 |
Nephronophthisis-Like Nephropathy 2 |
|
Cough, Polydipsia, Bronchiectasis |
OMIM:619468 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Esophagitis |
ORPHA:1901 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, T lymphocytopenia, Decrea... |
OMIM:618108 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypotonia, Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial ... |
OMIM:602522 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Lymphadenopathy, Splenomegaly, Periodontitis, Hepatosple... |
ORPHA:167 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... |
OMIM:619375 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... |
ORPHA:79301 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypotonia, Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency... |
OMIM:613090 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Skin rash, Thrombocytopenia... |
ORPHA:49566 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Colitis, Hepatitis, Cirrhosis, Diarrhea |
OMIM:614602 |
Overlap Myositis |
|
Constitutional symptom, Hypertension, Dysphagia, Autoimmunity, Limb pain, Pulmonary arterial hype... |
ORPHA:206572 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Feeding difficulties in infancy, Generalized aminoaciduria, Hepatocellular necrosis... |
OMIM:251880 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Oligospermia, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... |
ORPHA:95699 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
Familial Mediterranean Fever |
|
Leukocytosis, Hepatomegaly, Pericarditis, Nephrotic syndrome, Peritonitis, Vomiting, Arthritis, S... |
OMIM:249100 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Impaired T cell function, Neutropenia in presence of anti-neutropil antibod... |
OMIM:613179 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased c... |
OMIM:619381 |
Noonan Syndrome |
|
Abnormality of the spleen, Feeding difficulties in infancy, High palate, Hepatomegaly, Abnormal p... |
ORPHA:648 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Anorexia, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopath... |
OMIM:209950 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media... |
ORPHA:47612 |
Thymoma |
|
Prostate neoplasm, Imbalanced hemoglobin synthesis, Myositis, Neoplasm of the gastrointestinal tr... |
ORPHA:99867 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Bronchiectasis, Decreased circulating IgA level, Impaired T... |
OMIM:240500 |
Solitary Rectal Ulcer Syndrome |
|
Stercoral ulcer, Rectal prolapse, Anal fissure, Hematochezia |
ORPHA:209964 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Primary ... |
OMIM:612526 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Ventricular arrhyt... |
ORPHA:280365 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... |
OMIM:300853 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative disorder, Eosinophilia |
OMIM:607685 |
Prolidase Deficiency |
|
Hepatomegaly, Diffuse telangiectasia, Eczema, High palate, Thrombocytopenia, Anemia, Splenomegaly... |
OMIM:170100 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysphagia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate... |
ORPHA:488627 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Anorexia, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, Pulmonary arte... |
ORPHA:77259 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Prolonged prothrombin time, Subcutaneous hemorrhage, Micropenis, Abnormal blee... |
ORPHA:335 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, High, narrow palate, High palate, Aganglionic megacolon, Abnormality of the ovary, ... |
OMIM:209900 |
Addison Disease |
|
Androgen insufficiency, Decreased female libido, Adrenal hypoplasia, Type I diabetes mellitus, Pr... |
ORPHA:85138 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Abnormal drinking behavior, Pulmonary arterial hypertension, Abnor... |
ORPHA:209905 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Decreased circulating pa... |
OMIM:601198 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Congestive heart failure, Abnormal urinary color, Autoimmune hemolytic... |
ORPHA:90037 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Hepatomegaly,... |
ORPHA:77297 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycy... |
OMIM:269700 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Urethral stricture, Hyperkeratosis, Colitis |
OMIM:301220 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Hypoxemia, Autoimmunity, Eczema, Keratoconjunctivitis sicca, Crackles, Bronchiectasis, ... |
ORPHA:79128 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... |
OMIM:615234 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Cardiomyopathy,... |
OMIM:608594 |
Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Decreased nerve conducti... |
ORPHA:206443 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Bronchiectas... |
OMIM:618534 |
Plague |
|
Inflammation of the large intestine, Splenomegaly, Diarrhea, Abdominal pain, Enlarged mesenteric ... |
ORPHA:707 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Dilated cardiomyopathy, Eczema, Esophageal varix, Lymphadenopathy, Decreased circulating antibody... |
OMIM:615688 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... |
ORPHA:793 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:607271 |
Behçet Disease |
|
Retrobulbar optic neuritis, Lymphadenopathy, Cerebral ischemia, Optic neuritis, Splenomegaly, Gas... |
ORPHA:117 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Pr... |
ORPHA:99413 |
Acquired Idiopathic Sideroblastic Anemia |
|
Thrombocytosis, Leukocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Turner Syndrome |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Pr... |
ORPHA:881 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Pr... |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Pr... |
ORPHA:99226 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... |
OMIM:617388 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogonadism, Poor appetite, Diarrhea, Decr... |
OMIM:201100 |
Brucellosis |
|
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... |
ORPHA:1304 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Vomiting, Splenomegaly, Increased urinary porphobilinogen, Reticu... |
OMIM:618892 |
Acquired Von Willebrand Syndrome |
|
Menorrhagia, Intracranial hemorrhage, Prolonged prothrombin time, Joint hemorrhage, Epistaxis, He... |
ORPHA:99147 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadenopathy, Abnorma... |
ORPHA:39041 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Malabsorption, Optic disc coloboma, Anal atresia, Abnormal small intestinal muco... |
ORPHA:92050 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, L... |
OMIM:616100 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Ascites, Prolonged prothrombin time, Leukopenia, Anem... |
ORPHA:64743 |
Q Fever |
|
Myocarditis, Lymphadenopathy, Hepatitis, Splenomegaly, Hepatosplenomegaly, Vasculitis, Maculopapu... |
ORPHA:781 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Intracranial hemorrhage, Epistaxis, Polydipsia |
ORPHA:403 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Aminoaciduria, Vomiting, Nephrocalcinosis, Proximal tubulopa... |
ORPHA:18 |
Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Aortic regurgitation, Arthritis, Oste... |
ORPHA:29207 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Hepatomegaly, Inflammation of the large intestine, Anorexia, ... |
OMIM:181000 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pancreatic cysts, Abnormal lymphatic vessel morphology, Subconjunctival hemo... |
ORPHA:464329 |
Sweet Syndrome |
|
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intes... |
ORPHA:3243 |
Kindler Epidermolysis Bullosa |
|
Dysphagia, Inflammation of the large intestine, Cheilitis, Phimosis, Abnormality of the anus, Eso... |
ORPHA:2908 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... |
OMIM:613673 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary cort... |
ORPHA:913 |
Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hyperphosphaturia, Feeding difficulties in infanc... |
OMIM:239200 |
Scheie Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Rhinitis, Aortic regurgitation, Splenomegaly, Spastic parapa... |
ORPHA:93474 |
Radiation Proctitis |
|
Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum morphology, ... |
ORPHA:70475 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia, ... |
OMIM:618963 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Gonadal dys... |
ORPHA:206484 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Ochoa Syndrome |
|
Bowel incontinence, Urinary incontinence, Hypertension, Polydipsia |
ORPHA:2704 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Epistaxis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepa... |
OMIM:612840 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver ... |
OMIM:214900 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Cleft palate, Increased fecal calpro... |
OMIM:619573 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Esophageal varix, Splenomegaly, Hypercholesterolemia, Cirrhosi... |
ORPHA:75234 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Abnorm... |
ORPHA:90033 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Normochro... |
ORPHA:91500 |
Familial Hyperaldosteronism Type Iii |
|
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Polydipsia, Epistaxis |
ORPHA:251274 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... |
ORPHA:731 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Decreased mean platelet volume, Lymphadenopathy, Vasculitis,... |
OMIM:617718 |
Relapsing Fever |
|
Prolonged prothrombin time, Abnormality of the urinary system, Hematuria, Epistaxis, Acute kidney... |
ORPHA:91547 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly |
ORPHA:93476 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Rigidity, Feeding difficulties, Protuber... |
OMIM:230900 |
Pearson Syndrome |
|
Adrenal insufficiency, Neutropenia, Lacticaciduria, Cardiac conduction abnormality, Splenomegaly,... |
ORPHA:699 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Abnormal T-wave, Inflammation of the large intestine, Palpita... |
ORPHA:70591 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Feeding difficulties in infancy, Death in infancy, Cardiomyopathy, Splenomegal... |
OMIM:619046 |
Triosephosphate Isomerase Deficiency |
|
Dystonia, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Generalized hypot... |
OMIM:615512 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... |
ORPHA:231226 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Uveitis, Rheumatoid arthr... |
ORPHA:85410 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Anemia, Stillbirth, Spastic tetraplegia, Splenomegaly, Decreased osteoclas... |
OMIM:259720 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic stenosi... |
ORPHA:2414 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Decreased cir... |
OMIM:616084 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... |
ORPHA:131 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Hydronephrosis, Cleft palate, High palate, Neutropenia, Mitral regurgitation, Monoc... |
OMIM:612541 |
Aicardi-Goutieres Syndrome 1 |
|
Dystonia, Feeding difficulties in infancy, Hepatomegaly, Diabetes insipidus, Thrombocytopenia, Mu... |
OMIM:225750 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Intestinal pseudo-obstruction, Macroglossia, Recurrent otitis media, Splenomegaly, ... |
OMIM:309900 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Oroticaciduria, Vomiting, Nausea, Leukopenia, Anemia, Pancreatitis, Pulmonary hemor... |
OMIM:222700 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Abnormality ... |
OMIM:230500 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Renal agenesis, Macroglossia, Splenomegaly, Hypothyroidism, ... |
OMIM:618440 |
Hardikar Syndrome |
|
Cholangitis, Decreased serum insulin-like growth factor 1, Esophageal varix, Intrahepatic bile du... |
OMIM:301068 |
Hurler Syndrome |
|
Hypertension, Mucopolysacchariduria, Death in infancy, Hepatomegaly, Rhinitis, Macroglossia, Feed... |
ORPHA:93473 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Hepatomegaly, Hyperlipidemia, Palpitations, Vacuolated lymp... |
ORPHA:565612 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Death in infancy, Cleft palate, High pa... |
OMIM:235255 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Feeding difficulties in infancy, Pancytopenia, Decreased circulating IgA level, Hep... |
OMIM:613385 |
Myasthenia Gravis |
|
Dysphagia, Anti-acetylcholine receptor antibody positivity, Myositis, Hepatitis, Systemic lupus e... |
ORPHA:589 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Prolonged prothrombin time, Renal cyst, Dark urine, Steatorrhea |
ORPHA:79303 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... |
ORPHA:276152 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Diarrhea, Heparan sulfate excretion in urine, Asymmetric septal hyper... |
OMIM:252900 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Hepatomegaly, Dysphagia, Prolonged QT interval, Atrial fibrillation, Decreased ... |
OMIM:613327 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure |
ORPHA:163596 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Ascites, Splenomegaly, Spasticity, Hypotonia, Proteinuria |
ORPHA:834 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Ar... |
ORPHA:829 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Anorexia, Normocytic anemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Lym... |
ORPHA:33226 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Heparan sulfate excretion in urine, Asymmetri... |
OMIM:252920 |
Gamma-Heavy Chain Disease |
|
Autoimmunity, Dysphagia, Autoimmune thrombocytopenia, Fatigue, Rheumatoid arthritis, Skin rash, A... |
ORPHA:100026 |
Refsum Disease |
|
Cardiomyopathy, Heart block, Splenomegaly, Hypotonia, Renal insufficiency |
ORPHA:773 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Epistaxis, Nodular regenerativ... |
OMIM:619463 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, High palate, Hearing impairment |
OMIM:193700 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Feeding difficulties in infancy, Cleft palate, Renal cyst, Intrahepatic biliary dys... |
OMIM:614866 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, High palate, Splenomegaly, Decreased liver function, Spasticity, Thrombocytopenia, ... |
OMIM:251290 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ascites, Peritonitis, Abdominal distention, Mesenteric cyst, Ovarian fi... |
ORPHA:314473 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Syncope, Lymphadenopathy, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eos... |
ORPHA:98849 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Infectious encephalitis, Pancytopenia, Leukopenia, Prolonged prothrombin time, Lymp... |
OMIM:603553 |
African Trypanosomiasis |
|
Myocarditis, Abnormal prolactin level, Third degree atrioventricular block, Abnormality of renin-... |
ORPHA:3385 |
Biotinidase Deficiency |
|
Hepatomegaly, Feeding difficulties in infancy, Vomiting, Seborrheic dermatitis, Splenomegaly, Rec... |
OMIM:253260 |
Selective Igm Deficiency |
|
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fa... |
ORPHA:331235 |
Griscelli Syndrome |
|
Pyloric stenosis, Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypo... |
ORPHA:381 |
Erdheim-Chester Disease |
|
Polydipsia, Cough, Osteomyelitis, Joint swelling, Fatigue, Congestive heart failure, Increased bo... |
ORPHA:35687 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, EBV encephalitis, S... |
OMIM:615122 |
Caroli Disease |
|
Cholangitis, Esophageal varix, Cholangiocarcinoma, Splenomegaly, Intrahepatic cholestasis, Portal... |
ORPHA:53035 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... |
OMIM:133100 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Anemia, Arthritis, Acute hepatitis, ... |
ORPHA:905 |
Gitelman Syndrome |
|
Prolonged QT interval, Chondrocalcinosis, Polydipsia, Palpitations, Ventricular tachycardia, Salt... |
OMIM:263800 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal stenosi... |
OMIM:615190 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, High palate, Ascites, Abdominal distent... |
ORPHA:1655 |
Iga Pemphigus |
|
Pustule, Acantholysis, Increased circulating IgA level, Neutrophilic infiltration of the skin, Mo... |
ORPHA:555905 |
Hyper-Igd Syndrome |
|
Leukocytosis, Vomiting, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis,... |
OMIM:260920 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Pericarditis, Vomiting, Peritonitis, Myositis, Lymphadenopathy, Fasciitis, Arthriti... |
ORPHA:32960 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Intracranial hemorrhage, Polydipsia, Pulmonary arterial hypertension, Epistaxis, Se... |
ORPHA:369929 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomeg... |
ORPHA:231214 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dysuria, Nephro... |
ORPHA:93598 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Hydroureter |
OMIM:616559 |
Tyrosinemia, Type I |
|
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Hepatocellular carcinoma, Neph... |
OMIM:276700 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Nausea and vomiting, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urin... |
ORPHA:56425 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Abdominal cramps, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Ski... |
ORPHA:98848 |
Trisomy 10P |
|
Dysphagia, High palate, Abnormal auditory evoked potentials, Low voltage EEG, Rectovaginal fistul... |
ORPHA:171929 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Dysphagia, Splenomegaly, Diarrhea, Heparan sulfate excretion in urine, Asymmetric s... |
OMIM:252930 |
Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Mucopolysacchariduria, Macroglossia, Aortic regurgitat... |
OMIM:252500 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Autoimmunity, Cholangitis, Fatigue, Allergic rhinitis, Chronic sinusitis, Epididymitis, Recurrent... |
ORPHA:183675 |
Cystinosis |
|
Fatigue, Portal hypertension, Polydipsia, Rickets |
ORPHA:213 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Hypoplasia of the thym... |
OMIM:603554 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anti-thyroid peroxidase antibody positivity, Hypertension, Psoriasiform dermatitis, Deep dermal p... |
ORPHA:49041 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Systemic lupus erythematosus, Antinuclear antibody positivity, Rheumatoid arthritis |
OMIM:178610 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Dysphagia, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, O... |
ORPHA:99027 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Aminoaciduria, Hepatic failure, Splenomegaly |
ORPHA:664 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarge... |
OMIM:308230 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hepatomegaly, Pancreatic hypoplasia, Episcleritis, Azoospermia, Lymphadeno... |
OMIM:602782 |
Charcot-Marie-Tooth Disease Type 1F |
|
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Infectious encephalitis, Leukopenia, Prolonged prothrombin time, Lymphadenopathy, A... |
OMIM:267700 |
Immunodeficiency 47 |
|
Death in infancy, Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased... |
OMIM:300972 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Dysphagia, Splenomegaly, Diarrhea, Heparan sulfate excretion in urine, Asymmetric s... |
OMIM:252940 |
Gaucher Disease, Type I |
|
Hypertension, Hepatomegaly, Mitral regurgitation, Pulmonary arterial hypertension, Epistaxis, Ane... |
OMIM:230800 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Ileus, Splenomegaly, Hypogonadism, Microcolon, Spasticity, H... |
ORPHA:163746 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... |
OMIM:150550 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... |
OMIM:102700 |
Adult Krabbe Disease |
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EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Transaldolase Deficiency |
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Telangiectasia, Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Dec... |
OMIM:606003 |
Infantile Krabbe Disease |
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Optic atrophy, Decreased nerve conduction velocity, Hearing impairment, Prolonged brainstem audit... |
ORPHA:206436 |
Cystinosis, Nephropathic |
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Renal Fanconi syndrome, Dysphagia, Generalized aminoaciduria, Hepatomegaly, Oral motor hypotonia,... |
OMIM:219800 |
Joubert Syndrome With Hepatic Defect |
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Hepatomegaly, Feeding difficulties in infancy, Intrahepatic biliary atresia, Congenital hepatic f... |
ORPHA:1454 |
Bardet-Biedl Syndrome 9 |