Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... |
OMIM:619267 |
Athrombia, Essential |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... |
OMIM:619130 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:314560 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... |
OMIM:615888 |
Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 22 |
|
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage |
OMIM:618462 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time, Abnormal bleeding |
OMIM:272650 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:609821 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... |
OMIM:124900 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:187950 |
Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Epistaxis, Thrombocytopenia, Gingiv... |
OMIM:231200 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets |
OMIM:608404 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormality of the kidney, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induce... |
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 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation |
OMIM:173420 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Eczema, Impaired platelet aggregati... |
OMIM:617443 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Von Willebrand Disease, Type 3 |
|
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... |
OMIM:277480 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... |
OMIM:614009 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, P... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Ecchymosis |
OMIM:614158 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Factor V Deficiency |
|
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... |
OMIM:227400 |
Hermansky-Pudlak Syndrome 7 |
|
Post-partum hemorrhage, Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Menorr... |
OMIM:614076 |
Myh9-Related Disease |
|
Renal insufficiency, Spontaneous, recurrent epistaxis, Nephritis, Bruising susceptibility, Nephro... |
ORPHA:182050 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... |
OMIM:139090 |
Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... |
OMIM:187900 |
Bleeding Disorder, Platelet-Type, 12 |
|
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag... |
OMIM:605735 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Familial Adenomatous Polyposis 2 |
|
Colon cancer, Adenomatous colonic polyposis |
OMIM:608456 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Hematuria, Intracranial hemorrhage, Delayed onset bleeding, Cep... |
ORPHA:98879 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function, Abnormal bleeding |
ORPHA:231393 |
Quebec Platelet Disorder |
|
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... |
OMIM:601709 |
Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... |
OMIM:193400 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal alpha granule content, Impaired platelet aggregation, Bruising susceptibility, Abnormal ... |
OMIM:601399 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... |
ORPHA:238459 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising ... |
OMIM:614072 |
Prothrombin Deficiency, Congenital |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged prothrombin time, Gingival bleeding, Me... |
OMIM:613679 |
Trigeminal Neuralgia |
|
Allodynia, Mandibular pain, Trigeminal neuralgia, Ocular pain |
ORPHA:221091 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired collagen-related peptide-induced platelet aggregation, Petechiae, Impaired ADP-induced p... |
OMIM:153670 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Partially d... |
ORPHA:274 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Complex Regional Pain Syndrome |
|
Allodynia, Limb pain |
ORPHA:83452 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding |
OMIM:188025 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Petechiae, Impaired neutrophil chemotaxis, Skin rash, Reduc... |
OMIM:619374 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic polyposis, Adenomatous colonic pol... |
OMIM:610069 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Increas... |
OMIM:314050 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia, Back pain, Abdominal pain |
ORPHA:51890 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Intestinal bleeding |
ORPHA:1059 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... |
OMIM:617006 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... |
OMIM:614074 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Abnormal lymph node morphology, Diarrhea, Abnormal testis morphology, Hepa... |
ORPHA:85450 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding |
OMIM:185050 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, I... |
ORPHA:325 |
Neurotrophic Keratopathy |
|
Allodynia, Anterior uveitis |
ORPHA:137596 |
Hermansky-Pudlak Syndrome 6 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:614075 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Vomiting, Enterocolitis, Diarrhea, Calcium oxalate nephrolithiasis, Abdominal pain, I... |
OMIM:260005 |
Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Hyperaldosteronism, Vomiting, Acute kidney injury, Stage 5 ... |
ORPHA:89938 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyposthenuria, Hyperaldosteronism, Vomiting, Diarrhea, Hyperprostaglandinuria, Low-to-normal bloo... |
OMIM:241200 |
Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Trimethylaminuria, Hypertension, Recurrent pneumonia, Neutropenia, Tachycardia |
OMIM:602079 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyposthenuria, Hyperaldosteronism, Vomiting, Diarrhea, Hyperprostaglandinuria, Low-to-normal bloo... |
OMIM:601678 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... |
OMIM:300635 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding follow... |
ORPHA:35909 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... |
OMIM:619802 |
Coproporphyria, Hereditary |
|
Splenomegaly, Vomiting, Diarrhea, Abdominal pain, Increased fecal coproporphyrin 3, Jaundice, Hyp... |
OMIM:121300 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Sudden cardiac death, Hyperaldosteronism, Hypermagnesiuria, Co... |
ORPHA:73224 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Abnormal large intestine morphology, Esophageal neoplasm, Abnormal esoph... |
ORPHA:2198 |
Hermansky-Pudlak Syndrome 11 |
|
Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Reduced platelet dense granul... |
OMIM:619172 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Gastroesophageal reflux, High palate, Sensorineural hearing impairment, EEG abnormality, Absent b... |
OMIM:617519 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia, Abdominal pain, Abdominal cramps, Dysphagia |
OMIM:603041 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Skin rash, Hematuria, Hypertension, Nephropathy, Cholestasis, Hepatomegaly, P... |
OMIM:105200 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Eczema, Chronic leukemia, Chronic... |
ORPHA:906 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Gastroesophageal reflux, Periportal fibrosis, Reduced left ventricular ejec... |
OMIM:201475 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne |
OMIM:167100 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Arthritis, Infertility, Azoospermia, Congestive heart failure, Dilated cardiomyopathy,... |
OMIM:602390 |
Familial Cold Urticaria |
|
Conjunctivitis, Arthritis, Abdominal pain, Arthralgia, Myalgia, Polydipsia, Fatigue |
ORPHA:47045 |
Sitosterolemia 1 |
|
Hypercholesterolemia, Arthritis, Abnormal bleeding, Impaired platelet aggregation, Xanthelasma, G... |
OMIM:210250 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Bone marrow hypocellularity, Prolonged bleeding... |
ORPHA:3226 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... |
OMIM:613101 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hyperlipidemia, Hyperchole... |
ORPHA:79259 |
Mgat2-Cdg |
|
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Decreased circulating antibody leve... |
ORPHA:79329 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Intesti... |
OMIM:243180 |
Hermansky-Pudlak Syndrome 1 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Inflammation of the large intestine, Gingival ble... |
OMIM:203300 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, V... |
OMIM:616050 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased ... |
OMIM:604928 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... |
OMIM:619164 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, High palate, Death in infancy, Necrotizing enterocolitis, Abdominal pain, Feeding diffi... |
OMIM:616809 |
Klippel-Trénaunay Syndrome |
|
Prolonged bleeding time, Gastrointestinal hemorrhage, Hematuria, Internal hemorrhage |
ORPHA:90308 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Thrombocytopenia, Bone marrow hypocellularity, Impaired platelet aggregation |
OMIM:300835 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Death in infancy, Generalized hypotonia, Hypotonia, Hepatomegaly, Splenomegaly, Car... |
OMIM:608540 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Abnormal lymph node morphology, Chronic diarr... |
ORPHA:911 |
Essential Thrombocythemia |
|
Abnormality of thrombocytes, Prolonged bleeding time, Abnormal platelet morphology |
ORPHA:3318 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
Benign Schwannoma |
|
Allodynia, Pain |
ORPHA:252164 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Shigellosis |
|
Hemolytic-uremic syndrome, Bloody diarrhea, Tenesmus, Pneumonia, Thrombocytopenia, Acute colitis,... |
ORPHA:810 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Generalized hypotonia, M... |
OMIM:603585 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Intes... |
OMIM:243150 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Epistaxis |
ORPHA:46488 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia |
OMIM:613148 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Neutropenia, Enlarged kidney, Hepatocellular carcinoma, Hypertension, Gout, Inflamm... |
OMIM:232220 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Proximal tubulopathy, Cirrhosis, Chronic diarrhea, Death in infancy, Generalized hypotonia, Unila... |
OMIM:614576 |
Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged pr... |
ORPHA:327 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea, Death in infancy |
OMIM:219095 |
Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Excessive bleeding from superf... |
OMIM:614077 |
Galactosemia Iii |
|
Aminoaciduria, Vomiting, Jaundice, Generalized hypotonia, Galactosuria, Hypotonia, Hepatomegaly, ... |
OMIM:230350 |
Sepsis In Premature Infants |
|
Hypotension, Splenomegaly, Vomiting, Enterocolitis, Diarrhea, Anemia, Functional abnormality of t... |
ORPHA:90051 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Chroni... |
OMIM:614700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Crusting erythematous dermatitis, Eczema, Myositis, Abnormal intestine morphology... |
ORPHA:37042 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Bloody diarrhea, Ulcerative colitis, Anemia |
OMIM:619398 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Mixed Connective Tissue Disease |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Purpura, Pericarditis, Myositis, Nephropathy, G... |
ORPHA:809 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Anemia, Infectious encephalitis, Neutropenia, Reduced natural killer cel... |
ORPHA:540 |
Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Prolonged prothrombin time, Menorrhagia, P... |
OMIM:227600 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Infantile Sialic Acid Storage Disease |
|
High palate, Nephrotic syndrome, Generalized hypotonia, Congestive heart failure, Hypotonia, Hepa... |
OMIM:269920 |
Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Groin pain, Systemic lupus eryt... |
ORPHA:399180 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Decreased circulating total IgM, Reduced natural killer cell activity, B lympho... |
OMIM:619281 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Abnormal calcium-phosphate regulating hormone level, Hypotonia, Hepatomegaly, Abno... |
ORPHA:417 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Reduced natural killer cell activity, Periodontitis, Chronic or... |
OMIM:608233 |
Leukocyte Adhesion Deficiency |
|
Hemolytic-uremic syndrome, Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neu... |
ORPHA:2968 |
Autoimmune Hepatitis |
|
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Arthriti... |
ORPHA:2137 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic... |
OMIM:619079 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hypertension, Gout, Decreased glomer... |
OMIM:618061 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Renal insufficiency, Nausea and vomiting, Abdominal pain, Anorexia, Thrombo... |
ORPHA:79312 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thrombocytosis, Colitis, Acne, Microcyt... |
OMIM:604416 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bro... |
OMIM:618394 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Bronchiectasis, T lymphocytopenia, Eczema, Hepatosplenomegaly, Abnormal intestine morph... |
ORPHA:391487 |
Autoerythrocyte Sensitization Syndrome |
|
Vomiting, Diarrhea, Hematuria, Intracranial hemorrhage, Autoimmune thrombocytopenia, Epistaxis, S... |
ORPHA:324636 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Nephrotic syndrome, Eczema, U... |
OMIM:618935 |
Immunodeficiency 70 |
|
Achalasia, Decreased circulating total IgM, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:618969 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Hypotonia, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Cocaine Intoxication |
|
Hypotension, Bloody diarrhea, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmi... |
ORPHA:90068 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Diarrhea, Reticulocytosis, Thrombocytopenia, Acute colitis, Colonic stenosis, Ac... |
ORPHA:90038 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... |
OMIM:617638 |
Hemochromatosis, Type 2B |
|
Cirrhosis, Hepatic fibrosis, Anemia, Hypogonadism, Secondary amenorrhea, Congestive heart failure... |
OMIM:613313 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Genital ulcers, Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia,... |
OMIM:616744 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Anemia, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Hyper... |
ORPHA:97362 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Pro... |
OMIM:601596 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Abnormality of the menstrual cycle, Epistaxis, Thrombocytopenia, Spl... |
ORPHA:721 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hepato... |
ORPHA:370 |
Type 1 Diabetes Mellitus |
|
Autoimmunity, Polydipsia, Polyphagia |
OMIM:222100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hypotension, Anemia, Stage 5 chronic kidney ... |
OMIM:174000 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Splenomegaly, Cirrhosis, Secondary amenorrhea, Maternal diabetes, Congestive ... |
ORPHA:79083 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:615559 |
Wiskott-Aldrich Syndrome |
|
Eczema, Recurrent sinusitis, Hematemesis, Prolonged bleeding time, Thrombocytopenia, Decreased ci... |
OMIM:301000 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Nausea and vomiting, Jaundice, Hypotonia, Hepatomegaly, Feeding difficulties, Sple... |
ORPHA:79238 |
Lynch Syndrome 8 |
|
Colon cancer, Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:613244 |
Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Enlarged kidney, Hepatocellular carcinoma, Hypertension, Gout, Delayed pub... |
OMIM:232200 |
Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Spider hemangioma, Chronic pancreatitis, Hematuria, Hypertension... |
OMIM:232240 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit... |
ORPHA:2442 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Chronic diarrhea, Abdominal pain,... |
OMIM:615895 |
Babesiosis |
|
Leukopenia, Hepatic failure, Hemolytic anemia, Nausea and vomiting, Jaundice, Congestive heart fa... |
ORPHA:108 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Zygomycosis |
|
Diarrhea, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Unusual gastrointestinal infe... |
ORPHA:73263 |
Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Congestive heart failure, Angina pectoris, Hy... |
ORPHA:90970 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Hepatocellular carcinoma, Cholangiocarcinoma, Chronic hepatic failure, Hepatos... |
ORPHA:171 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Splenomegaly, Secondary amenorrhea, Congestive heart failure, Hepatic steatosis, ... |
ORPHA:2348 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hepatocellular adenoma, Myoglobi... |
ORPHA:264580 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Diarrhea, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Palpitation... |
ORPHA:340 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Impotence, Abdominal pain, Azoospermia, Congestive heart failure, Hepa... |
OMIM:235200 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic ... |
OMIM:618999 |
Idiopathic Hypereosinophilic Syndrome |
|
Feeding difficulties in infancy, Supraventricular arrhythmia, Eczema, Generalized lymphadenopathy... |
ORPHA:3260 |
Whipple Disease |
|
Hypotension, Respiratory insufficiency, Chest pain, Arthritis, Abdominal pain, Uveitis, Arthralgi... |
ORPHA:3452 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly, Colitis |
ORPHA:88643 |
Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Septic arthritis, Bloody diarrhea, Diarrhea, Oliguria, Thrombocytope... |
ORPHA:544482 |
Epidermolysis Bullosa Acquisita |
|
Diabetes mellitus, Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, M... |
ORPHA:2795 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Decreased ... |
OMIM:615767 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Nausea and... |
ORPHA:543 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Neutropenia, Villous atrophy, Recurrent urinary tract infections, Malab... |
OMIM:209920 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Anemia, Recurrent aphthous stomatitis, Nephrotic syndrome, Skin rash, Arthritis, ... |
ORPHA:575 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... |
OMIM:603909 |
Familial Mediterranean Fever |
|
Diarrhea, Pericarditis, Intestinal obstruction, Splenomegaly, Skin rash, Arthritis, Abdominal pai... |
ORPHA:342 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Abnormality of the liver, Arthritis, Abdominal pain, Keratoconjunctivitis sicca, ... |
ORPHA:91138 |
Legionnaires Disease |
|
Hypotension, Endocarditis, Splenomegaly, Infectious encephalitis, Diarrhea, Nausea and vomiting, ... |
ORPHA:549 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Nausea and vomiting, Abdominal pain, Jaundice, Acholic stools, Biliary tract abnormali... |
ORPHA:1414 |
Immunodeficiency 58 |
|
Recurrent aphthous stomatitis, Chronic diarrhea, Decreased T cell activation, Bronchiectasis, Dec... |
OMIM:618131 |
Macs Syndrome |
|
Recurrent aphthous stomatitis, Bronchiectasis, Bruising susceptibility, Urethral stenosis, Prolon... |
OMIM:613075 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Small vessel vas... |
ORPHA:93126 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Anemia, Neutropenia, Skin rash, Jaundice, Lymphadenopathy, Hypotonia, Hemophagocy... |
OMIM:603552 |
Neuraminidase Deficiency |
|
Ascites, Urinary excretion of sialylated oligosaccharides, Generalized hypotonia, Increased urina... |
OMIM:256550 |
Neonatal Lupus Erythematosus |
|
Heart block, Hepatomegaly, Aplastic anemia, Thrombocytopenia, Splenomegaly, Malar rash, Abnormali... |
ORPHA:398124 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Rheumatoid factor positive, Arthralgia, Anti-citrullinated protein antibody... |
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, Infectious encephalitis,... |
OMIM:616098 |
Cyclic Neutropenia |
|
Enterocolitis, Perianal abscess, Periodontitis, Peritonitis, Abdominal pain, Decreased eosinophil... |
ORPHA:2686 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Hepatocellular carcinoma, Cholangiocarcinoma, Chronic hepatic failure, Hepatomega... |
ORPHA:465508 |
Syndromic Diarrhea |
|
Hypothyroidism, Bloody diarrhea, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Hepatomegal... |
ORPHA:84064 |
Typhoid |
|
Diarrhea, Cardiac arrest, Skin rash, Abdominal pain, Epistaxis, Constipation, Gastrointestinal he... |
ORPHA:99745 |
Alpha-Heavy Chain Disease |
|
Anemia, Premature ovarian insufficiency, Malabsorption, Abdominal pain, Lymphadenopathy, Hepatome... |
ORPHA:100025 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Anti-thyroid peroxidase antibody positivity, Sinus tachycardia, Neutropenia in pre... |
ORPHA:525731 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysm... |
ORPHA:95427 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... |
ORPHA:52368 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, High palate |
OMIM:617523 |
Acrocraniofacial Dysostosis |
|
Cleft palate, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory ... |
OMIM:201050 |
Pseudohypoparathyroidism Type 1A |
|
Conjunctivitis, Low urinary cyclic AMP response to PTH administration, Decreased response to grow... |
ORPHA:79443 |
Hypocomplementemic Urticarial Vasculitis |
|
Conjunctivitis, Glomerulopathy, Diarrhea, Small vessel vasculitis, Nausea and vomiting, Skin rash... |
ORPHA:36412 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Decreased glomerular filtration rate, Renal ... |
OMIM:162000 |
Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Nephropathy, Lymphadenopathy... |
ORPHA:100024 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
Fetal Gaucher Disease |
|
High palate, Death in infancy, Intracranial hemorrhage, Pancytopenia, Abnormality of the spleen, ... |
ORPHA:85212 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Elevated ci... |
OMIM:613388 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Cough, Bronchiectasis |
OMIM:619468 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Renal agenesis, Hypoplasia of the u... |
ORPHA:247768 |
Beta-Thalassemia Intermedia |
|
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... |
ORPHA:231222 |
Coach Syndrome 1 |
|
Spasticity, Multiple small medullary renal cysts, Hepatic fibrosis, Cirrhosis, Stage 5 chronic ki... |
OMIM:216360 |
Enterocolitis |
|
Enterocolitis, Hematochezia, Ulcerative colitis, Abdominal distention |
OMIM:226150 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased urinary cortisol level, Increased circul... |
ORPHA:1501 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Abdominal pain, Ulcerative colitis, Inf... |
OMIM:266600 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Bronchiectasis, T lymphocytopenia, Bowel irritability, Gastritis, Colitis, Recurrent sk... |
OMIM:619381 |
Hereditary Renal Hypouricemia |
|
Vomiting, Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physio... |
ORPHA:94088 |
Scrub Typhus |
|
Hypotension, Infectious encephalitis, Nausea and vomiting, Skin rash, Abdominal pain, Lymphadenop... |
ORPHA:83317 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Abdominal pain, Abnormality of the peritoneum, Inflammation of the large int... |
ORPHA:26790 |
Schnitzler Syndrome |
|
Anemia, Arthritis, Skin rash, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level, Leu... |
ORPHA:37748 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Bloody diarrhea, Diarrhea, Generalized lymphadenopathy, Hepatic steatosis, Hypert... |
OMIM:615846 |
Lcat Deficiency |
|
Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre... |
ORPHA:650 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Osteomyelitis, Poor appetite, Arthritis, Skin rash, Inflammation of the large intestine, ... |
ORPHA:324964 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, Bronchiectasis, Decreased circulating antibo... |
OMIM:618108 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... |
OMIM:142623 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hypertrophic cardiomyopathy, Bone marrow hypocellularity, Hepatomegaly, Th... |
OMIM:617303 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Skin rash, Abdominal pain, Autoimmunity, Arthralgia, Pericarditis,... |
ORPHA:85414 |
Sickle Cell Disease |
|
Splenomegaly, Hemolytic anemia, Priapism, Target cells, Abdominal pain, Jaundice, Hematuria, Hype... |
OMIM:603903 |
Immunodeficiency 40 |
|
Rectal fistula, Intermittent diarrhea, Chronic oral candidiasis, T lymphocytopenia, Interstitial ... |
OMIM:616433 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Cirrhosis, Chronic diarrhea, Diarrhea, Villous atrophy, Colitis, Hepatomegaly, C... |
OMIM:614602 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Neonatal death, Peripor... |
OMIM:263200 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Esophagitis |
ORPHA:1901 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hypercholesterolemia, Hypertriglyceridemia, Vomiting, Hepatic fibrosis, R... |
ORPHA:79240 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea |
OMIM:191390 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Nephroblastoma, Acute myeloid leukemia, Hepatic failure, Anemia, Reduced natural killer cell coun... |
ORPHA:158057 |
Congenital Factor Xiii Deficiency |
|
Hepatic failure, Myeloid leukemia, Cerebral hemorrhage, Epistaxis, Inflammation of the large inte... |
ORPHA:331 |
Acquired Purpura Fulminans |
|
Macular purpura, Skin rash, Intracranial hemorrhage, Internal hemorrhage, Prolonged prothrombin t... |
ORPHA:49566 |
Amoebiasis Due To Entamoeba Histolytica |
|
Bloody diarrhea, Anemia, Diarrhea, Liver abscess, Abdominal pain, Congestive heart failure, Protr... |
ORPHA:67 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Diarrhea, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hyp... |
ORPHA:470 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abdominal pain, Congestive heart failure, Abnormal urinary color, Arrhythmia, A... |
ORPHA:98375 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
American Trypanosomiasis |
|
Achalasia, Diarrhea, Skin rash, Abdominal pain, Aganglionic megacolon, Congestive heart failure, ... |
ORPHA:3386 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Infectious encephalitis, Neutropenia, Reduced natural killer cell activity, Decr... |
OMIM:308240 |
Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, H... |
OMIM:278000 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Diarrhea, Hemoperitoneum, Adrenal insufficiency, Abnormal left ventricular function,... |
ORPHA:99827 |
Beta-Thalassemia |
|
Splenomegaly, Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypo... |
ORPHA:848 |
Chédiak-Higashi Syndrome |
|
Spastic paraplegia, Hepatosplenomegaly, Decreased liver function, Thrombocytopenia, Abnormal leuk... |
ORPHA:167 |
Overlap Myositis |
|
Pulmonary arterial hypertension, Subluxation of the small joints of the hand, Rheumatoid arthriti... |
ORPHA:206572 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Generalized hypotonia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, ... |
OMIM:613090 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Extramedullary hematop... |
OMIM:615285 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Skin rash, Lymphocytosis, Vasculitis in the skin, Cervical lymphadenopathy, Infl... |
OMIM:617718 |
Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag... |
ORPHA:335 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Hyperactivity, Abnormal drinking behavior, Asthma, Respiratory d... |
ORPHA:209905 |
Immunodeficiency 27A |
|
Anemia, Diarrhea, Enlarged mesenteric lymph node, Hepatosplenomegaly, Anorexia, Lymphadenopathy, ... |
OMIM:209950 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Familial Mediterranean Fever |
|
Episodic abdominal pain, Crohn's disease, Vomiting, Diarrhea, Nephrotic syndrome, Stage 5 chronic... |
OMIM:249100 |
Purine Nucleoside Phosphorylase Deficiency |
|
Spastic diplegia, Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil a... |
OMIM:613179 |
Noonan Syndrome |
|
High palate, Feeding difficulties in infancy, Abnormal platelet function, Abnormality of the lymp... |
ORPHA:648 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Enterocutaneous fistula, Rectovaginal ... |
OMIM:612567 |
Felty Syndrome |
|
Splenomegaly, Rhinitis, Anemia, Recurrent urinary tract infections, Arthritis, Synovitis, Pericar... |
ORPHA:47612 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Decreased circulating antibody level, Rheumatoid arthriti... |
ORPHA:99867 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Diarrhea, B lymphocytopenia, Neu... |
OMIM:607594 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Generalized hypotonia, Decreased glomerular fil... |
ORPHA:488627 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Secondary amenorrhea, Ventricular arrhythmia, Supraventricular arrhythmia, Congesti... |
ORPHA:280365 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... |
OMIM:277450 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... |
OMIM:612526 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Urethral stricture, Recurrent pneumonia, Colitis, Chronic diarrhea, Hyperkeratosis |
OMIM:301220 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Anemia, Increased circulating antibody le... |
ORPHA:77259 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
OMIM:601859 |
Hypocalcemia, Autosomal Dominant 1 |
|
Increased circulating renin level, Decreased glomerular filtration rate, Nephrocalcinosis, Decrea... |
OMIM:601198 |
Prolidase Deficiency |
|
Anemia, High palate, Prolonged neonatal jaundice, Crusting erythematous dermatitis, Increased cir... |
OMIM:170100 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Rheumatoid ar... |
ORPHA:95459 |
Sapho Syndrome |
|
Osteomyelitis, Chronic diarrhea, Enthesitis, Skin rash, Arthritis, Synovitis, Abdominal pain, Mal... |
ORPHA:793 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Extramedullary hematopoiesis... |
OMIM:612840 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:403 |
Ochoa Syndrome |
|
Bowel incontinence, Urinary incontinence, Hypertension, Polydipsia |
ORPHA:2704 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Rheumatoid arthritis, Skin rash, Raynaud phenomenon, Hypoxemia, Keratoconjunctivi... |
ORPHA:79128 |
Majeed Syndrome |
|
Glomerulopathy, Osteomyelitis, Inflammatory abnormality of the skin, Malabsorption, Synovitis, Hy... |
ORPHA:77297 |
Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, Prolonged brainstem auditory evoked potentials, Decreased nerve conducti... |
ORPHA:206443 |
Immunodeficiency 87 And Autoimmunity |
|
Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Hepat... |
OMIM:619573 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Oligoarthritis, Hip osteoarthritis, Enthesitis, Aortic regurgitation, Infla... |
OMIM:106300 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus ... |
OMIM:608594 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Vomiting, Hemolytic anemia, Red urine, Reticulocytosis, I... |
OMIM:618892 |
Reactive Arthritis |
|
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Diarrhea, Recurrent urinary tract i... |
ORPHA:29207 |
Plague |
|
Hypotension, Bloody diarrhea, Diarrhea, Inflammatory abnormality of the eye, Tachycardia, Hepatom... |
ORPHA:707 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Abnormal urinary color, Autoimmune hemolytic anemia, Splen... |
ORPHA:90037 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, C... |
ORPHA:99413 |
Turner Syndrome |
|
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, C... |
ORPHA:881 |
Mosaic Monosomy X |
|
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, C... |
ORPHA:99228 |
Monosomy X |
|
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, C... |
ORPHA:99226 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Ascites, Jaun... |
ORPHA:64743 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Cirrhosis, Insulin-resista... |
OMIM:269700 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Au... |
OMIM:618495 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Eczema, Recurrent sinusitis, Hepatosplenomegaly, Bone marrow hypocellularity, Panniculitis, Hepat... |
OMIM:615688 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... |
ORPHA:92050 |
Gaisböck Syndrome |
|
Peptic ulcer, Hypertriglyceridemia, Increased mean corpuscular hemoglobin concentration, Increase... |
ORPHA:90041 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... |
OMIM:208540 |
Acquired Von Willebrand Syndrome |
|
Persistent bleeding after trauma, Subcutaneous hemorrhage, Hematuria, Intracranial hemorrhage, Br... |
ORPHA:99147 |
Behçet Disease |
|
Glomerulopathy, Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, S... |
ORPHA:117 |
Sweet Syndrome |
|
Oligoarthritis, Acute myeloid leukemia, Anemia, Chronic lymphatic leukemia, Small vessel vasculit... |
ORPHA:3243 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hyperaldosteronism, Generalized hypotonia, Renal salt wasti... |
OMIM:602522 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascul... |
OMIM:617388 |
Omenn Syndrome |
|
Hypothyroidism, Anemia, Chronic diarrhea, Nephrotic syndrome, Thyroiditis, Lymphadenopathy, Eosin... |
ORPHA:39041 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Prolonged prothrombin time... |
OMIM:613070 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval, Polydipsia |
ORPHA:251274 |
Relapsing Fever |
|
Acute kidney injury, Hematuria, Abnormal bleeding, Epistaxis, Prolonged prothrombin time, Abnorma... |
ORPHA:91547 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Bronchiectasis, Iridocyclitis, Increased circulating antibody le... |
OMIM:181000 |
Radiation Proctitis |
|
Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology, Rectal abscess, Intest... |
ORPHA:70475 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... |
ORPHA:1304 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... |
OMIM:614878 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Anemia, Esophageal stricture, Dysphagia, Abnormality of the anus, Periodontitis, ... |
ORPHA:2908 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Abnor... |
ORPHA:464329 |
Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Enlarged kidne... |
OMIM:276700 |
Q Fever |
|
Hepatosplenomegaly, Pericarditis, Abnormal left ventricular function, Hepatomegaly, Thrombocytope... |
ORPHA:781 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Anemia, Feeding difficulties in infancy, Hyperphosphaturia, Generalized hypotonia,... |
OMIM:239200 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic failure, Cirrhosis, Diarrhea, Hepatitis, Jaundice, Acholic stools, Steatorrhea, Hepatic b... |
OMIM:613812 |
Scheie Syndrome |
|
Rhinitis, Aortic regurgitation, Spastic paraparesis, Mucopolysacchariduria, Hepatomegaly, Splenom... |
ORPHA:93474 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, High palate, Hypogonadism, Decreased testicular size, Abnormality of the kidney... |
OMIM:209900 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac dis... |
OMIM:301068 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Vomiting, Hypocitraturia, Diarrhea, Hypermagnesiuria, Poor a... |
ORPHA:18 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Zollinger-Ellison Syndrome |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intest... |
ORPHA:913 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic ... |
ORPHA:100026 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Splenomegaly, Congestive heart failure,... |
ORPHA:2414 |
Mucopolysaccharidosis, Type Ii |
|
Splenomegaly, Diarrhea, Dermatan sulfate excretion in urine, Congestive heart failure, Recurrent ... |
OMIM:309900 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... |
ORPHA:91500 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... |
OMIM:263300 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Diarrhea, Skin rash, Arthritis, Chronic cons... |
OMIM:301074 |
Erdheim-Chester Disease |
|
Osteomyelitis, Increased bone mineral density, Skin rash, Abdominal pain, Congestive heart failur... |
ORPHA:35687 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Joint hypermobility, Abnormality of ... |
ORPHA:85410 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Steatorrhea, Renal cyst, Giant cell hepatitis, Prolonged prothrombin time, Dark urine |
ORPHA:79303 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Inflammatory abnormality of the skin, Angina pectoris, Diabetes mellitus, Low-outpu... |
ORPHA:565612 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Autoimmune hemolyti... |
ORPHA:90033 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, B lymphocytopenia, Decreased circulating antibody level, Generalized hypotonia, Si... |
OMIM:616084 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Hypopa... |
ORPHA:699 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Pulmonary hemorrhage, Vomiting, Splenomegaly, Diarrhea, Leukopenia, Anemia, Stage ... |
OMIM:222700 |
Hurler Syndrome |
|
Rhinitis, Death in infancy, Hypertension, Angina pectoris, Macroglossia, Spastic paraparesis, Hyp... |
ORPHA:93473 |
Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticom... |
ORPHA:731 |
Gitelman Syndrome |
|
Hypotension, Abdominal pain, Arthralgia, Prolonged QT interval, Ventricular tachycardia, Palpitat... |
OMIM:263800 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Diarrhea, Adrenal insufficiency, Extramedullary hematopoiesis, Hepatocellular car... |
ORPHA:231226 |
Triosephosphate Isomerase Deficiency |
|
Spasticity, Splenomegaly, Hemolytic anemia, Death in infancy, Normocytic anemia, Jaundice, Genera... |
OMIM:615512 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Diarrhea, Hyperinsulinem... |
ORPHA:276152 |
Budd-Chiari Syndrome |
|
Cirrhosis, Malabsorption, Ascites, Peritonitis, Abdominal pain, Jaundice, Cholecystitis, Intestin... |
ORPHA:131 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Splenomegaly, Pyloric stenosis, Hepatic steatosis, Recurrent pneumonia, Prolong... |
OMIM:613327 |
Cystinosis |
|
Rickets, Portal hypertension, Polydipsia, Fatigue |
ORPHA:213 |
Ovarian Fibroma |
|
Gonadal calcification, Abdominal pain, Abnormality of the ovary, Abdominal distention, Ascites, P... |
ORPHA:314473 |
Oculoskeletodental Syndrome |
|
Hypothyroidism, Renal agenesis, Macroglossia, Lacunar stroke, Mucopolysacchariduria, Hepatomegaly... |
OMIM:618440 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, ... |
OMIM:230500 |
Myasthenia Gravis |
|
Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hepatitis, Anti-acetylcholin... |
ORPHA:589 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Intracranial hemorrhage, Epistaxis, Second degree ... |
ORPHA:369929 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Esophageal varix, Renal hypoplasia, Portal hypertension, Splenomegaly, Tricuspi... |
OMIM:616589 |
Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Diarrhea, Leukemia, Malabsorption, Normocytic anemia, Congestive heart failur... |
ORPHA:33226 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Panniculitis, Hepatomegaly, Cleft... |
OMIM:612541 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Hepatic failure, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jau... |
OMIM:617394 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularit... |
OMIM:615190 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Infectious encephalitis, Reduced natural killer cell activity, Skin rash, Jau... |
OMIM:603553 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Splenomegaly, High palate, Death in infancy, Thyroid lymphangiectasia, Ascites, ... |
OMIM:235255 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... |
OMIM:609136 |
Wilson Disease |
|
Aminoaciduria, Limb dystonia, Hyperphosphaturia, Hepatocellular carcinoma, Hepatic steatosis, Hyp... |
OMIM:277900 |
Noonan Syndrome 9 |
|
Hydroureter, Prolonged prothrombin time |
OMIM:616559 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Epistaxis, Thrombocytopenia,... |
OMIM:619463 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess... |
ORPHA:555905 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Spasticity, Decreased T cell activation, Perianal abscess, Eosinophilic infiltra... |
OMIM:618213 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, High palate, Hearing impairment |
OMIM:193700 |
African Trypanosomiasis |
|
Impotence, Diarrhea, Abnormality of circulating cortisol level, Iritis, Hepatosplenomegaly, Peric... |
ORPHA:3385 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Esophageal stricture, B lymphocytopenia, Pancolitis, Pancytope... |
OMIM:620133 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Lymphopenia, Inflammation of the large intestine, Dystonia, Absent uvula, Dilatat... |
OMIM:619708 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Vomiting, Periportal fibrosis, Hepatocellular necrosis, Feeding difficulties in ... |
OMIM:251880 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Hepatic failure, Splenomegaly, High palate, Pulmonary lymphan... |
ORPHA:1655 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Antinuclear a... |
ORPHA:331235 |
Trisomy 10P |
|
Gastroesophageal reflux, Macrotia, High palate, Low voltage EEG, EEG with burst suppression, Abno... |
ORPHA:171929 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia |
OMIM:615986 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat... |
ORPHA:48104 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Peptic ulcer, Acute myeloid leukemia, Diarrhea, Chronic myelomonocytic leukemia, Eos... |
ORPHA:98849 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocyt... |
OMIM:308230 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... |
ORPHA:3130 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Absent specific antibody response, Eosinophilia, Chronic diarrhea, Hepatomegaly, Pneumo... |
OMIM:102700 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anti-thyroid peroxidase antibody positivity, Rheumatoid arthritis, Large vessel vasculitis, Low b... |
ORPHA:49041 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Vomiting, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal ang... |
OMIM:260920 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Primary Hyperoxaluria Type 1 |
|
Anemia, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcin... |
ORPHA:93598 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Conjunctivitis, Vomiting, Diarrhea, Skin rash, Fasciitis, Arthritis, Abdominal pain, Uveitis, Ery... |
ORPHA:32960 |
Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:178029 |
Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Bifid uvula, Eczema, Hepatic steatosis, Hypertrophic car... |
OMIM:270400 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Asthma, S... |
ORPHA:183675 |
Toxic Epidermal Necrolysis |
|
Sudden cardiac death, Conjunctivitis, Abdominal pain, Respiratory distress, Restrictive ventilato... |
ORPHA:537 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Palpitations, Hypertension, Polydipsia |
ORPHA:231580 |
Infantile Krabbe Disease |
|
Gastroesophageal reflux, Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem ... |
ORPHA:206436 |
Beta-Thalassemia Major |
|
Hypothyroidism, Diarrhea, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hy... |
ORPHA:231214 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Biotinidase Deficiency |
|
Conjunctivitis, Vomiting, Diarrhea, Skin rash, Feeding difficulties in infancy, Organic aciduria,... |
OMIM:253260 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Tongue atrophy, Absent brainstem auditory responses, Optic nerv... |
ORPHA:101085 |
Immunodeficiency 47 |
|
Hepatic steatosis, Hepatomegaly, Chronic diarrhea, Hypercholesterolemia, Thrombocytopenia, Spleno... |
OMIM:300972 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Gastroesophageal reflux, Spasticity, High palate, Hypertension, Hypotonia, Renal a... |
OMIM:617913 |
Caroli Disease |
|
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Periportal f... |
ORPHA:53035 |
Gitelman Syndrome |
|
Palpitations, Chondrocalcinosis, Polydipsia, Abdominal pain, Low-to-normal blood pressure, Respir... |
ORPHA:358 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi... |
OMIM:230800 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Prolonged prothrombin time, Hematochezia |
OMIM:214950 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Dysphagia, Hepatomegaly, Neph... |
OMIM:219800 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Pulmonary arterial hypertension, Splenomegaly, Decreased response to growt... |
OMIM:602782 |
Polycythemia Vera |
|
Pulmonary embolism, Abdominal pain, Intermittent claudication, Angina pectoris, Hypertension, Epi... |
ORPHA:729 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphop... |
OMIM:602450 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Hypothyroidism, Cirrhosis, Periportal fibrosis, Dark yellow urine, Fat malab... |
ORPHA:30391 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis, Hypertriglyceridemia, Splenomegaly |
OMIM:615947 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Spasticity, Hypogonadism, Microcolon, Abdominal pain, Aganglionic megacolon, Hypotonia, Constipat... |
ORPHA:163746 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Glycogen Storage Disease Ii |
|
Urinary incontinence, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Ma... |
OMIM:232300 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
Dyskeratosis Congenita |
|
Abnormal testis morphology, Neoplasm of the pancreas, Bone marrow hypocellularity, Hepatomegaly, ... |
ORPHA:1775 |
Frontometaphyseal Dysplasia 2 |
|
Gastroesophageal reflux, High palate, Neurogenic bladder, Feeding difficulties in infancy, Pylori... |
OMIM:617137 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated... |
OMIM:613673 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Mastocytosis |
|
Hypotension, Diarrhea, Nausea and vomiting, Mastocytosis, Arrhythmia, Anorexia, Gastrointestinal ... |
ORPHA:98292 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Chronic constipation, Recurrent sinusitis, Parotitis, Panniculitis, Hepatomegaly, Thrombocytopeni... |
OMIM:256040 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Gonad... |
ORPHA:199310 |
Blau Syndrome |
|
Large vessel vasculitis, Pericarditis, Retrobulbar optic neuritis, Abnormal inflammatory response... |
ORPHA:90340 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Nephrotic syndrome, Steatorrhea, Renal cyst, Pericarditis, Decreased circul... |
OMIM:212065 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid factor positive, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Restrictive cardiomyopathy, Sp... |
ORPHA:822 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Common Variable Immunodeficiency |
|
Splenomegaly, Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating a... |
ORPHA:1572 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Duodenal ulcer, Periodontitis, Abnormality of the ovary, Cerv... |
ORPHA:722 |
Hellp Syndrome |
|
Cerebral hemorrhage, Acute kidney injury, Hemoglobinuria, Internal hemorrhage, Prolonged prothrom... |
ORPHA:244242 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Episodic abdominal pain, Mandibular pain, Pancreatitis, Fatigue, Dysphagia, Chondrocalcinosis, Sh... |
ORPHA:99880 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Thrombocytopenia, Dicarboxylic aciduria, Prolonged prothrombin time |
ORPHA:99901 |
Glycogen Storage Disease Xii |
|