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Gene: Serpinc1 MGI:88095

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1
Synonyms:
At-3,  ATIII,  antithrombin,  At3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Serpinc1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Serpinc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Retinal vein occlusion, Miscarriage, Pulmonary embolism ORPHA:82
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118

The table below shows human diseases predicted to be associated to Serpinc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Cerebral Cavernous Malformations
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation OMIM:116860
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... OMIM:278000
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu... ORPHA:36382
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Prolonged bleeding foll... ORPHA:325
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Intracranial hemorrhage... OMIM:227500
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... ORPHA:367
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Coach Syndrome 1
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Portal hypertension, Unilateral r... OMIM:216360
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Hemophilia B
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after dental extrac... ORPHA:98879
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 16
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Microvesicular h... OMIM:615395
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrh... OMIM:202400
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... ORPHA:328
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Prolonged QT interval, Elevated hepatic transaminase, Dicarboxylic aciduri... ORPHA:71212
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... ORPHA:210136
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Port... OMIM:619487
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... ORPHA:326
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Hepatic failure, Cirrhosis, Cerebral berry aneurysm OMIM:210050
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Prolonged bleeding after dental extraction, Prolonged bleeding af... ORPHA:331
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis, T... OMIM:616589
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Premature... OMIM:617341
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Cataract... ORPHA:3156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Moderate Hemophilia A
Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Abnormal bleeding, Prolonged b... ORPHA:169805
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy, Hepatome... OMIM:609016
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... ORPHA:98850
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... ORPHA:79
Caroli Disease
Liver abscess, Cholangitis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatomeg... ORPHA:53035
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepatic failure, Ascites, Tub... OMIM:232500
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Impaired ... ORPHA:849
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra... OMIM:614921
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Cystinosis
Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Renal tubular dysfunction... ORPHA:213
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... ORPHA:169802
Scorpion Envenomation
Bundle branch block, Prominent U wave, Priapism, Ketonuria, Elevated circulating aspartate aminot... ORPHA:466677
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Micro... ORPHA:774
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ... ORPHA:131
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Hyperpigmentation of the skin, Osteoarthritis, Cardiomyopathy, Impotence,... OMIM:606069
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolo... ORPHA:35909
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop... OMIM:264470
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Nodular Regenerative Hyperplasia Of The Liver
Portal hypertension, Abnormality of the hepatic vasculature ORPHA:48372
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Rayn... OMIM:615688
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ... OMIM:231530
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial he... ORPHA:449285
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Von Willebrand Disease
Venous insufficiency, Abnormal platelet function ORPHA:903
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hyperpigmentation of the skin, Card... OMIM:604250
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Hepatocellular necrosis OMIM:256000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Necrotizing enterocolitis, Sudden cardiac ... OMIM:201475
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Devel... OMIM:231680
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Oligozoospermia, Hypertension, Azoospermia, Infe... OMIM:615703
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... OMIM:235200
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Enteric Anendocrinosis
Cholestatic liver disease, Portal hypertension ORPHA:83620
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cataract, Portal hypertension, Congenital hepatic fibrosis, Leukopen... ORPHA:974
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Generalized hyperpigmentation, Congenital hepatic fibrosis, Dilate... ORPHA:79230
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... OMIM:614201
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... OMIM:301045
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Renal insufficiency, External genital hypoplasia, Patent ductus arterios... OMIM:615996
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... ORPHA:49566
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Elevated hepatic transaminase, Epistaxis, Cerebral hemorrhage, Prolonged proth... OMIM:277450
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Jaundice, Hepatic failure, Hepatitis, Biliary cirrh... ORPHA:186
Fetal Gaucher Disease
Hepatomegaly, Abnormality of the spleen, Splenomegaly, Flexion contracture, Intracranial hemorrha... ORPHA:85212
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri... ORPHA:100093
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati... OMIM:610199
Portal Vein, Cavernous Transformation Of
Extrahepatic portal hypertension OMIM:601004
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Bi... OMIM:267010
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H... OMIM:204000
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Oliver-Mcfarlane Syndrome
Central heterochromia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Pigmen... OMIM:275400
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, White hair, Silver-gray hair, H... ORPHA:381
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ... ORPHA:440713
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Skin rash, Corneal opacity, Thromboc... ORPHA:290
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimot... OMIM:613385
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ... ORPHA:228426
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Stroke OMIM:182410
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Combined Saposin Deficiency
Hepatomegaly, Death in infancy, Splenomegaly, Optic atrophy, Abnormal glycosphingolipid metabolism OMIM:611721
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Hypergonadotropic hypogonadism, Pigmentary retinopathy, Abnormality of the liver, Rod-c... OMIM:614307
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T... ORPHA:858
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Alstrom Syndrome
Cone/cone-rod dystrophy, Hepatomegaly, Elevated hepatic transaminase, Chronic active hepatitis, H... OMIM:203800
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Hepa... OMIM:610717
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... ORPHA:284
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Congestive heart failure, Glutar... ORPHA:26791
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... OMIM:610198
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Cardiomyopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in u... ORPHA:26792
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hepatic steatosis ORPHA:436182
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... OMIM:616829
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Hypertrophic cardiomyopathy, Retinopathy, Cardiomyopathy OMIM:615119
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Retinal vein occlusion, Miscarriage, Pulmonary embolism ORPHA:82
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:231200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Cryptorchidism, Premature graying of hair, Lymphopenia, An... OMIM:620365
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Death in infancy, 3-hydroxydi... OMIM:613070
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Med... ORPHA:91138
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ... OMIM:620300
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Cataract, Portal hyper... OMIM:620005
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Chorioretinal atrophy, Decreased liver function, Acute hepatitis, Homocitrullinuria... OMIM:238970
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... OMIM:619048
Myh9-Related Disease
Elevated hepatic transaminase, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal i... ORPHA:182050
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Pigmentary retinopathy, M... OMIM:618234
Cofs Syndrome
Abnormality of retinal pigmentation, Death in infancy, Cataract, Optic atrophy, Hypogonadism ORPHA:1466
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Sandhoff Disease
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormal glycosphingolipid metabolism, Cher... ORPHA:796
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Congest... OMIM:613313
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension, Arteriosclerosis, ... ORPHA:494424
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... OMIM:240300
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Renal insufficiency, Elevated circulating aspartate aminotransferase concentrat... OMIM:619386
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Death in infancy, Proteinuria,... OMIM:613404
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Attrv30M Amyloidosis
Cardiomegaly, Vitreous floaters, Atrioventricular block, Cardiomyopathy, Impotence, Nephropathy, ... ORPHA:85447
Acute Transverse Myelitis
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret... ORPHA:139417
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency, Anemia ORPHA:655
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hyp... ORPHA:99828
Niemann-Pick Disease, Type B
Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Thrombocytopenia... OMIM:607616
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertension, Hepatic fibrosis, Infertility, Oligomenorrhea, Hepatic steatosis ORPHA:280356
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Bruising susceptibi... ORPHA:3226
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... ORPHA:47
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy... OMIM:263300
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Polycystic ovaries, Hypertension, Coronary artery atherosclerosi... ORPHA:79084
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Acute Liver Failure
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis... ORPHA:90062
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Erythrocytosis, Familial, 1
Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Urinary incontinence... OMIM:268800
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Coarctation of aorta, P... OMIM:614300
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjunctival icterus, Jaund... ORPHA:3111
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Vitritis, Hepatitis, Bronchiectasis... ORPHA:1163
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... ORPHA:97339
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatic melanin-like lysos... OMIM:208085
Lipodystrophy, Familial Partial, Type 4
Miscarriage, Hypertension, Stroke, Oligomenorrhea, Hepatic steatosis OMIM:613877
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Mevalonic Aciduria
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Skin r... OMIM:610377
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Cryptorchidism, Pigmentary retinopathy, Hypogonadism, Micropenis, Retinal degeneration ORPHA:3363
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Portal hypertension, Cryptorchidism, Hypopigmented skin patches, ... OMIM:609136
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria OMIM:236130
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Abnormal reprodu... ORPHA:70472
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... OMIM:193400
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic o... OMIM:268020
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist... ORPHA:90308
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hepatic failure, Hepatic steatosis OMIM:617872
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Prominent veins on trunk, Sec... ORPHA:79083
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Neon... OMIM:613730
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... ORPHA:549
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Glutathione Synthetase Deficiency
Hemolytic anemia, Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine, Neutro... OMIM:266130
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Recurrent pneumonia, Optic atrophy, Rod-cone dystrophy, Re... OMIM:602271
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function, Congenital portosystemic venous shunt, Persistent pa... OMIM:601466
Mevalonic Aciduria
Splenomegaly, Blue sclerae, Cataract ORPHA:29
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri... ORPHA:33110
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Ele... OMIM:618805
Q Fever
Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious encephali... ORPHA:781
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... ORPHA:209902
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis OMIM:615918
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemorrhage, Retinal hem... OMIM:615368
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Isosexual precocious puberty, Abnormal vitreous humor morpho... ORPHA:2788
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Reticular hyperpigmentation, Premature grayi... OMIM:127550
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hyper... OMIM:212065
Jeune Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Abnormality of the liver, Nephronophthi... ORPHA:474
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Portal hypertension, Cholestasis, Dil... OMIM:613658
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Abnormality of the liver, Cataract, Optic atrophy ORPHA:44
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ... OMIM:308230
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... OMIM:214110
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Miscarriage, Maculopapular exanthema, Skin rash, Retinal ... ORPHA:448237
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Generalized hyperpigmentation, Myositis,... ORPHA:3452
Graft Versus Host Disease
Elevated hepatic transaminase, Tachycardia, Fasciitis, Myositis, Maculopapular exanthema, Pneumon... ORPHA:39812
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Intracranial hemorrhage, Intr... ORPHA:324636
Rift Valley Fever
Elevated hepatic transaminase, Miscarriage, Retinitis, Skin rash, Hematemesis, Thrombocytopenia, ... ORPHA:319251
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis OMIM:619431
Avian Influenza
Elevated hepatic transaminase, Miscarriage, Pneumonia, Congestive heart failure, Hepatitis, Leuko... ORPHA:454836
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Leukopen... ORPHA:797
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induce... OMIM:155100
Mulibrey Nanism
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Pigmentary retinopathy, ... OMIM:253250
Acquired Partial Lipodystrophy
Microscopic hematuria, Hepatic steatosis, Lymphocytosis, Proteinuria ORPHA:79087
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Inflammatory... ORPHA:816
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, Prolonged prothrom... OMIM:618329
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Blue sclerae, Congenital posterior urethr... OMIM:180860
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Chronic kidney disease, Elevated diastolic blood pres... ORPHA:275555
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Aminoaciduria, Galac... OMIM:230350
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy... OMIM:614922
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Johanson-Blizzard Syndrome
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Death in childhood, Micropenis, Hepat... OMIM:243800
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... ORPHA:79301
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly, Hepatitis, Mucopolysacchariduria, Arteriovenous malformation, Ascites ORPHA:584
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Increase... OMIM:620278
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... OMIM:617397
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Thrombocytopenia, Moyamoya phenomenon OMIM:615750
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa... ORPHA:64
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard... ORPHA:292
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Neonatal death, Intrahepatic bile duc... OMIM:619534
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Myopathy, H... OMIM:185070
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Optic atrop... OMIM:261680
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Elevated gamma-glutamyltransferase level, Intrahepatic biliary dysgenesis, Hepatomega... OMIM:614866
Wilson Disease
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Hemolytic ... OMIM:277900
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary amenorrhea, Polycys... ORPHA:2348
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Abnormal chorioretinal morphology, Chorioretin... ORPHA:5
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Lichen Planopilaris
Pterygium, Hypopigmented skin patches, Hepatitis ORPHA:525
Melioidosis
Shock, Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, H... ORPHA:31202
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Se... ORPHA:3085
Dpm1-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, External genital hypoplasia, Opti... ORPHA:79322
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Overgrowth of external genitalia, Precocious puberty i... ORPHA:528
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Pigmentary retinopathy, Hypert... ORPHA:110
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Hepatiti... OMIM:304790
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Blue sclerae, Ambiguous genitalia ORPHA:2772
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Splenomegaly, Nephropathy, Ascites, Abnormal macular morphology ORPHA:87876
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneou... OMIM:269200
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat... ORPHA:231226
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormal fallopian tu... ORPHA:2552
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... ORPHA:167
Lipodystrophy, Familial Partial, Type 3
Prominent superficial veins, Primary amenorrhea, Polycystic ovaries, Hypertension, Oligomenorrhea... OMIM:604367
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Blue sclerae, Heterochromia iridis ORPHA:66633
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Cryptorchidism, Abnormality of the lymphatic system, Pulmonic stenosis, ... ORPHA:638
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... ORPHA:37042
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Dicarboxylic aciduria, Microvesicular hepatic st... OMIM:611126
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Metrorrhagia, E... OMIM:614074
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Ascending aorta hypoplasia, Blue sclerae, Chronic otitis media, Micropenis, Pelvic... OMIM:619503
Macrocephaly-Intellectual Disability-Autism Syndrome
Cafe-au-lait spot, Hepatic steatosis, Penile freckling ORPHA:210548
Varicose Veins
Varicose veins OMIM:192200
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Elevated... OMIM:615381
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Propionic Acidemia
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis, Limb hypertonia OMIM:606054
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe... ORPHA:73263
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Infectious encephalitis, I... ORPHA:36234
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc... ORPHA:1855
Obesity And Hypopigmentation
Red hair, Hepatic steatosis OMIM:620195
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Precocious puberty, Irregular m... ORPHA:562
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrot... OMIM:105200
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Kaposi Sarcoma
Generalized lymphadenopathy, Skin rash, Abnormal retinal morphology, Hypermelanotic macule, Venou... ORPHA:33276
Cimdag Syndrome
Hepatomegaly, Death in early adulthood, Retinal dystrophy, Microvesicular hepatic steatosis, Deve... OMIM:619273
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar... OMIM:220110
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Dilated cardiomyopathy ORPHA:2515
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Blue sclerae, Developmental cataract OMIM:259410
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Patent ductus arteriosus, Telangiectasia, Pigmentary retinopathy, Blue scl... OMIM:612582
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Proteus Syndrome
Splenomegaly, Depigmentation/hyperpigmentation of skin, Limbal dermoid, Lymphangioma, Venous malf... OMIM:176920
Developmental And Epileptic Encephalopathy 28
Blue sclerae, Optic atrophy, Retinal degeneration OMIM:616211
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Idiopathic Copper-Associated Cirrhosis
Increased urinary copper concentration, Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Leptospirosis
First degree atrioventricular block, Uveitis, Conjunctival hyperemia, Papilledema, Hepatomegaly, ... ORPHA:509
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227990
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,... ORPHA:391487
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly OMIM:251000
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar... ORPHA:436271
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Gracile Syndrome
Death in early adulthood, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron c... ORPHA:53693
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Premature ovarian insufficiency, Hypergo... ORPHA:2959
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hepatic failure ORPHA:75234
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Elevated gamma-glutamyltransferase level, Retinal neovascularization, Nephropa... ORPHA:247691
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Cln3 Disease
Cataract, Acne, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinop... ORPHA:228346
Abetalipoproteinemia
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Reticulocytosis, Hepatomegaly... ORPHA:14
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Williams-Beuren Syndrome
Premature graying of hair, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Po... OMIM:194050
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Abnormal cerebral vascu... ORPHA:758
Kennedy Disease
Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... OMIM:615846
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Micropenis, Cryptorchidism ORPHA:370968
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Chorioretinal atrophy, Hepatitis, Ch... ORPHA:415
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227982
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Myoglobinuria, Red-brown urine, Cardiomyopathy, Redu... ORPHA:228305
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impotence, Urinary incontinence, Hypermyelinated retinal nerve fibers ORPHA:98
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Large vessel vasculitis, Retrograde ejaculation, Hashimoto thyroiditis, Psoria... ORPHA:49041
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Hypophosphatasia, Infantile
Death in infancy, Elevated urine pyrophosphate, Low alkaline phosphatase, Hypercalciuria, Intracr... OMIM:241500
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Optic atroph... OMIM:617303
Gaucher Disease
Hepatomegaly, Pancytopenia, Death in infancy, Proteinuria, Osteomyelitis, Corneal opacity, Thromb... ORPHA:355
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Microcytic anemia OMIM:619013
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Mottled pigmentation of photoexposed areas, Death in adolescence, Pigment... OMIM:560000
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
3-Methylglutaconic Aciduria, Type Viib
Cataract, Congestive heart failure, Recurrent pneumonia, Leukopenia, Prolonged prothrombin time, ... OMIM:616271
Chronic Mucocutaneous Candidiasis
Dyspareunia, Skin rash, Hepatitis, Cheilitis, Hematuria, Abnormal vagina morphology ORPHA:1334
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Nephrotic range proteinuria ORPHA:300536
Lowry-Maclean Syndrome
Hypospadias, Corneal opacity, Bilateral cryptorchidism, Abnormality of the abdominal organs, Deve... ORPHA:2409
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Bone-marro... OMIM:256550
Niemann-Pick Disease, Type A
Hepatomegaly, Foam cells with lamellar inclusion bodies, Elevated circulating aspartate aminotran... OMIM:257200
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Optic atrophy, Cardiomyopathy,... ORPHA:79312
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Pancreatic cysts, Spleno... ORPHA:464329
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Ureteral duplication, Renal insuff... OMIM:608836
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:187900
Seckel Syndrome 10
Retinal detachment, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating aspartate a... OMIM:617253
Adrenomyodystrophy
Megalocornea, Generalized hyperpigmentation, Hepatic steatosis, Megacystis ORPHA:977
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... OMIM:615630
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Hepatomegaly, Prolonged bleeding time, Absent platelet dense gran... OMIM:608233
Essential Thrombocythemia
Prolonged bleeding time, Transient ischemic attack, Abnormal cerebral vascular morphology, Myocar... ORPHA:3318
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Subdural hemorrhage, A... OMIM:618291
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Hepatitis, Abnormal thymus... ORPHA:589
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertension, Hepatic steatosis, Cirrhosis ORPHA:363400
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Congestive heart failure, Cardiomyopathy, Elevated circulating alkaline phosphatase con... ORPHA:52430
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N... ORPHA:3260
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidi... ORPHA:66634
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Chorioretinal ... ORPHA:2196
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Macular atrophy, Microvesicular hepatic steatosis, Splenomegaly, ... OMIM:619418
Relapsing Polychondritis
Episcleritis, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna, Cataract, Kera... ORPHA:728
Alagille Syndrome 1
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Abnormal anterior chamb... OMIM:118450
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Elevated hepatic tran... OMIM:300972
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Homocystinuria, Myocardial infarction, Ectopia lentis, Methioninuri... OMIM:236200
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Optic atrophy, Uveitis, Nephroti... ORPHA:575
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Death in infancy, Unilateral renal age... OMIM:614576
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... ORPHA:48435
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Ketonuria, Increased ur... ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Congestive heart failure, Leukocytosis, Vasculitis, Cervica... ORPHA:2331
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Werner Syndrome
Abnormality of retinal pigmentation, Cataract, Telangiectasia of the skin, Miscarriage, Myocardia... ORPHA:902
Non-Functioning Pituitary Adenoma
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... ORPHA:91349
Refsum Disease
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Heart block, Splenomegaly, Ca... ORPHA:773
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Renal insufficiency, Cataract, Irregular menstruation, A... OMIM:615986
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Ventricular t... OMIM:212138
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Classic Homocystinuria
Elevated hepatic transaminase, Retinal detachment, Abnormality of retinal pigmentation, Hepatomeg... ORPHA:394
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Cryptorchidism, Pigmentary retinopathy, Left ventricular h... OMIM:613156
Sea-Blue Histiocytosis
Hepatomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin, Splenomegaly, Mediasti... ORPHA:158029
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Laron Syndrome
Delayed menarche, Blue sclerae OMIM:262500
Tempi Syndrome
Intracranial hemorrhage, Telangiectasia ORPHA:284227
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... ORPHA:99827
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Third degree atrioventricular block ORPHA:480
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Congenital Isolated Acth Deficiency
Hepatitis, Hypotension, Prolonged neonatal jaundice ORPHA:199296
Monosomy 13Q34
Metrorrhagia, Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic ste... ORPHA:96168
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Decreased iduronate sulfatase lev... OMIM:309900
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, Cardi... ORPHA:445038
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Hepatomegaly, Ventricular arrhythmia, Abnormal atrioventricular cond... ORPHA:280365
Chylomicron Retention Disease
Elevated hepatic transaminase, Acanthocytosis, Retinopathy, Increased hepatocellular lipid drople... ORPHA:71
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Cataract, Hypospadias, Brushfie... OMIM:214100
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold OMIM:108145
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Abnormal lactate ... ORPHA:457083
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Cataract, Hepatic steatosis ORPHA:369840
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... OMIM:201450
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Retinal detachment, Abnormal circulating enzyme concentration or activity, Congestive heart failu... ORPHA:1900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Hypertrophic cardiomyopathy, Blue sclerae, Optic atrophy OMIM:619383
Lipodystrophy, Familial Partial, Type 6
Hypertension, Hepatic steatosis, Hypopigmentation of the skin OMIM:615980
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Cataract, Megaloblastic anemia, Optic atro... OMIM:222300
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Ramon Syndrome
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Telangiectasia of the ... ORPHA:3019
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Decreased fert... ORPHA:1173
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Microcytic anemia, Intestinal bleeding, Arteriovenous malform... ORPHA:1059
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Impotence, Oligomenorrhea, Hypotension ORPHA:91354
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Hypopigmentation of the skin, Epistaxis, Albinism, Impaired ADP-induced ... OMIM:614075
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... ORPHA:699
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Amyloid deposition in the vitreous humor, Stroke-like episode... OMIM:105210
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hepa... ORPHA:398124
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cataract, Cholangitis, Microvesicular hepatic steatosis, Lacticaci... OMIM:124000
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Increased intramyocellular lipid d... OMIM:252011
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Prolactinoma
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... ORPHA:2965
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Mac... ORPHA:298
Laurence-Moon Syndrome
Pigmentary retinopathy, Micropenis, Small scrotum, Chorioretinal atrophy OMIM:245800
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy OMIM:520000
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Blue ... OMIM:619377
Vici Syndrome
Abnormality of retinal pigmentation, Death in infancy, Cataract, Optic atrophy, Ureteral atresia,... ORPHA:1493
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Abnormal circulating enzyme concentration... ORPHA:48818
Poems Syndrome
Papilledema, Lymphadenopathy, Pulmonary arterial hypertension, Hypogonadism, Erectile dysfunction... ORPHA:2905
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula... OMIM:209900
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Venous insufficiency, Splenomegaly, Abnormal pu... ORPHA:2969
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertension, Irregular menstruation OMIM:615238
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Death in infancy, Pulmonic stenos... OMIM:619433
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk... ORPHA:319218
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Menkes Disease
Intracranial hemorrhage OMIM:309400
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Epididymitis, Pyoderma, Conjunctivitis, Absent circu... OMIM:307200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He... ORPHA:541423
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... ORPHA:2510
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Death in childhood, ... OMIM:601847
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Abnormal circulating enzyme concentration or activity, Pigmentary... ORPHA:79264
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Blue sclerae, Decreased corneal thickness, ... OMIM:614170
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Hepatomegaly, Pericarditi... ORPHA:809
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Premature ovarian insufficiency, E... ORPHA:199299
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Pituicytoma
Impotence, Decreased female libido, Hypogonadotropic hypogonadism, Amenorrhea ORPHA:251623
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating aspartate aminotransferase concentration, Optic atrophy, Developmental catar... OMIM:613154
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Elevated hepatic transaminase, Nodular ... ORPHA:404454
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Dentinogenesis Imperfecta
Prolonged bleeding time, Blue sclerae ORPHA:49042
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl... ORPHA:412
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, External genital hypoplasia, Renal hypoplasia, Pigmentary retinopathy, R... OMIM:600151
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cholestasis, Pigmentary retinopathy, Cardiomyo... ORPHA:746
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis, Cherry red spot of the macula, Decreas... OMIM:228000
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency, Female sexual dysfunction, Male sexual dysfunction ORPHA:100999
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Prominent superficial veins, Blue sclerae, Renal hypoplasia OMIM:616817
Chanarin-Dorfman Syndrome
Hepatomegaly, Subcapsular cataract, Hepatic steatosis OMIM:275630
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Death in infancy, Generalized hyperpigmentation, Numerous co... ORPHA:2481
Musculocontractural Ehlers-Danlos Syndrome
Retinal detachment, Recurrent skin infections, Cryptorchidism, Abnormal mesentery morphology, Fun... ORPHA:2953
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Oligomenorrhea, Polycystic ovaries ORPHA:79085
Hellp Syndrome
Elevated hepatic transaminase, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Inte... ORPHA:244242
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasi... OMIM:300755
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis, Pancreatitis ORPHA:435651
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Eczema, Cryptorchidism, Renal hypoplasia, Blue sclerae, Vesicoureteral reflux ORPHA:464288
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatom... ORPHA:191
Sitosterolemia 1
Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Anemia... OMIM:210250
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Patent ductus arteriosus, Mic... OMIM:606003
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Leuko... ORPHA:20
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina, Functional abnormalit... ORPHA:100996
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Hypermel... ORPHA:90321
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Urinary incontinence, Optic atrophy, Pigmentar... OMIM:609033
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Blue sclerae, Decreased corneal thickness,... OMIM:229200
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertil... ORPHA:478
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Grubben-De Cock-Borghgraef Syndrome
Blue sclerae, Eczema ORPHA:2101
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Abnormal labia majora morphology, Oligomenorrhea, Hepatic steat... ORPHA:435660
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Corneal opacity, Splenomegaly, Lymphadenopathy, Atherosclerosis ORPHA:79292
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... ORPHA:90354
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Eosinophilia, Telangiectasia of ... ORPHA:464
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transien... ORPHA:2929
Tarp Syndrome
Subdural hemorrhage, Neonatal death, Hepatic failure, Atrial septal defect, Tetralogy of Fallot OMIM:311900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed a... OMIM:203300
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Microvesicular hepatic st... ORPHA:275761
Adrenomyeloneuropathy
Very long chain fatty acid accumulation, Urinary incontinence, Abnormality of skin pigmentation, ... ORPHA:139399
Hemorrhagic Fever-Renal Syndrome
Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intrac... ORPHA:340
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Adult Krabbe Disease
Abnormal circulating enzyme concentration or activity, Urinary incontinence, Erectile dysfunction ORPHA:206448
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content OMIM:261750
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri... ORPHA:228308
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polyuria, Stag... OMIM:615994
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma... ORPHA:247585
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... ORPHA:83471
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Cataract, Sclerocornea, Ovotestis, Junctional ectopic tachycardia,... OMIM:309801
African Trypanosomiasis
Urinary incontinence, Conjunctivitis, Iritis, Papilledema, Hepatomegaly, Abnormal EKG, Lymphadeno... ORPHA:3385
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Familial Chylomicronemia Syndrome
Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Jaundice, H... ORPHA:444490
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hypospadias, Precocious puberty, Cryptorchidism, Mitral regurgitation, Arrh... ORPHA:254346
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... ORPHA:79259
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Atrial fibrillat... OMIM:613327
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Patent ... OMIM:251290
Laron Syndrome
Hypoplasia of penis, Blue sclerae, Osteoarthritis ORPHA:633
Arima Syndrome
Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney dis... OMIM:243910
Chediak-Higashi Syndrome
Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, ... OMIM:214500
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Ganglioside accumulation, Corneal opacity ORPHA:578
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Myopathy, Arte... ORPHA:109
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome... ORPHA:251066
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... ORPHA:447
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Pulmonary arterial hypertension, Death in adolescence OMIM:619059
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Dilation of Virchow-Robin spaces, Death in childhood OMIM:619517
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Epistaxis, Hypersplen... OMIM:230800
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron... OMIM:619381
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... OMIM:235555
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis OMIM:126320
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop... ORPHA:79432
Joubert Syndrome 8
Optic disc pallor, Prolonged neonatal jaundice, Pigmentary retinopathy, Hepatomegaly OMIM:612291
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Ab... ORPHA:93111
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Thrombocytopenia, Splenomeg... OMIM:603553
Foix-Alajouanine Syndrome
Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Male sexual dysf... ORPHA:79093
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal circulating enzyme concentration or activit... ORPHA:2785
Opsismodysplasia
Splenomegaly, Hepatomegaly, Blue sclerae ORPHA:2746
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Blue sclerae, Labial hypoplasia ORPHA:231137
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency, Blue sclerae, Cataract OMIM:619286
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Blue sclerae, Aplasia/Hypoplasia of the gallbladder, Micropen... ORPHA:96092
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Corneal arcus, Hypertrichotic hyperpigmented patch, Micropenis, Pancreatic hypoplas... OMIM:602782
Prolidase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Crusting erythematous dermatitis... ORPHA:742
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Leukodystrophy, Hypomyelinating, 25
Blue sclerae OMIM:620243
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphol... ORPHA:98907
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Retinal atrophy, Proteinuria, Cataract, Retinal pigment epithe... OMIM:216400
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Blue sclerae OMIM:617051
Cockayne Syndrome Type 3
Premature graying of hair, Microcornea, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal ... ORPHA:90324
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Vesicoureteral reflux, Abnorm... ORPHA:3208
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Generalized hyperpigmentation, Proteinuria, Abnormal cardiovasc... ORPHA:79086
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Elevated pro... OMIM:619802
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Blue sclerae, Hypopigmented skin patches, Arteriovenous malformation ORPHA:2875
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Reduced number of intrahepatic bile ducts, Abnormal heart morphology ORPHA:79284
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... OMIM:300578
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hypertension, Melanocytic nevus ORPHA:2801
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H... ORPHA:2088
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Hypoplastic spleen, Petechiae OMIM:617053
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... OMIM:611490
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal circulating enzyme concentration or ac... ORPHA:217085
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Conjunctivitis, Tricuspid regurgitation, Patent ductus arteriosus, Hepatosplenomegaly... ORPHA:505248
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
De Barsy Syndrome
Cataract, Corneal opacity, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Pro... ORPHA:2962
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Impotence, Autonomic erectile dysfunction, Orthostatic hypotension due to autonomic dysfunction OMIM:169500
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Renal cyst, Pigmentary retinopathy, Rod-cone dystrophy,... OMIM:605231
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Adrenoleukodystrophy
Urinary incontinence, Impotence, Hypogonadism, Urinary bladder sphincter dysfunction, Hyperpigmen... OMIM:300100
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Hereditary Methemoglobinemia
Blue sclerae, Methemoglobinemia ORPHA:621
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P... ORPHA:436159
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal circulating enzyme concentration or ac... ORPHA:217093
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Trisomy 8P
Cryptorchidism, Heart murmur, Micropenis, Nephrocalcinosis, Blue sclerae, Astigmatism, Aplasia/Hy... ORPHA:264450
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Slc35A1-Cdg
Prolonged bleeding time, Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thr... ORPHA:238459
Perineural Cyst
Dyspareunia, Urinary incontinence, Retrograde ejaculation, Male sexual dysfunction, Impotence, In... ORPHA:65250
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Hypop... OMIM:219800
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... ORPHA:540
Pontocerebellar Hypoplasia, Type 1F
Blue sclerae OMIM:619304
Diastrophic Dysplasia
Cryptorchidism, Blue sclerae ORPHA:628
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Limb hypertonia OMIM:618480
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Death in infancy, 4-hydroxyphenylacetic aciduria, Microvesicular h... OMIM:617156
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr... ORPHA:91347
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Blue sclerae OMIM:616229
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:565
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Prominent superficial veins, Blue sclerae OMIM:612350
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Cataract, Retinal pigment epithelial mottling, Methylmalo... OMIM:614105
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Blue sclerae ORPHA:2324
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Proteinuria, Abnormal retinal... ORPHA:2715
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... OMIM:269700
Desmoid Tumor
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Hydronephrosis ORPHA:873
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracrani... ORPHA:163979
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Micropenis, Hepatic steatosis, Penoscrotal hypospadias,... OMIM:270400
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Blue sclerae ORPHA:457365
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Am... ORPHA:91500
Microphthalmia With Linear Skin Defects Syndrome
Chorioretinal dysplasia, Sclerocornea, Epispadias, Vitritis, Abnormality of skin pigmentation, Re... ORPHA:2556
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Tachycardia, Bifid scrotum, Unilateral cryptorchidism,... OMIM:618280
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... OMIM:608594
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Parietal Foramina 1
Blue sclerae OMIM:168500
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Hypertension, Normochromic anemia, Impotence, Oligomenorrhea, Hyp... ORPHA:95613
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Prolonged pr... OMIM:267700
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Adenohypophysitis
Orthostatic hypotension, Decreased female libido, Normochromic anemia, Impotence, Hyposthenuria, ... ORPHA:95512
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... OMIM:153670
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Grant Syndrome
Blue sclerae ORPHA:2097
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Optic atrophy, Micr... OMIM:133540
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:17
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Optic disc pallor, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Le... OMIM:259720
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Blau Syndrome
Large vessel vasculitis, Abnormality of the liver, Abnormal optic nerve morphology, Posterior uve... ORPHA:90340
Desbuquois Syndrome
Blue sclerae ORPHA:1425
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Blue sclerae OMIM:615539
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Blue sclerae, Corneal opacity ORPHA:357058
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car... OMIM:232220
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... ORPHA:813
Silver-Russell Syndrome 2
Blue sclerae OMIM:618905
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Corneal opacity, Abnormal foveal ... ORPHA:580
Pseudodiastrophic Dysplasia
Blue sclerae OMIM:264180
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Decreased propor... OMIM:619573
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Blue sclerae ORPHA:157965
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Ketonuria, Macular coloboma, Megaloblastic anemia, Pulmonary embolism, Throm... ORPHA:79282
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Panhypophysitis
Orthostatic hypotension, Decreased female libido, Normochromic anemia, Impotence, Hyposthenuria, ... ORPHA:95513
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Braddock Syndrome
Pulmonary arterial hypertension, Blue sclerae, Unilateral renal agenesis ORPHA:52047
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Cafe-au-lait spot, Blue sclerae OMIM:618707
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Pure Autonomic Failure
Orthostatic hypotension, Dysuria, Urinary incontinence, Impotence, Syncope ORPHA:441
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cells, Low choles... OMIM:607625
Autosomal Dominant Spastic Paraplegia Type 12
Urinary urgency, Female sexual dysfunction, Male sexual dysfunction, Urinary incontinence ORPHA:100993
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Hallermann-Streiff Syndrome
Cataract, Cryptorchidism, Optic disc coloboma, Recurrent pneumonia, Telangiectasia, Hypertension,... OMIM:234100
Manganese Poisoning
Impotence, Decreased female libido, Decreased male libido ORPHA:306682
Chromosome 9P Deletion Syndrome
Hypospadias, Patent ductus arteriosus, Heart murmur, Blue sclerae, Micropenis, Fair hair OMIM:158170
Congenital Primary Megaureter
Abnormal penis morphology, Nephrolithiasis, Congenital megaureter, Vesicoureteral reflux, Microsc... ORPHA:617
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, D... OMIM:615895
Mucopolysaccharidosis Type 3
Hepatomegaly, Cataract, Corneal opacity, Adenoiditis, Cardiomegaly, Splenomegaly, Heparan sulfate... ORPHA:581
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Retinal degeneration OMIM:272200
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Premature graying of hair, Premature arteriosclerosis, Hep... ORPHA:79474
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Wiedemann-Steiner Syndrome
Recurrent otitis media, Cryptorchidism, Patent ductus arteriosus, Blue sclerae OMIM:605130
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Abnormal morphology of the great vessels, Developmental cataract, Blue sclerae, Annular pancreas,... ORPHA:488642
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the spleen, Pate... ORPHA:1606
Alkaptonuria
Myocardial infarction, Coronary artery calcification, Osteoarthritis, Nephrolithiasis, Abnormalit... ORPHA:56
Spinocerebellar Ataxia Type 42
Urinary urgency, Impotence, Psoriasiform dermatitis, Urinary incontinence ORPHA:458803
Ehlers-Danlos Syndrome, Classic Type, 1
Ectopia lentis, Osteoarthritis, Aortic root aneurysm, Blue sclerae, Recurrent sinusitis OMIM:130000
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Myopathic Ehlers-Danlos Syndrome
Blue sclerae ORPHA:536516
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Meacham Syndrome
Accessory spleen, Death in infancy, Septate vagina, Patent ductus arteriosus, Partial anomalous p... OMIM:608978
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cel... OMIM:257220
Bloom Syndrome
Hypopigmentation of the skin, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchi... OMIM:210900
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cataract, Cryptorchidism, Developmental glaucoma, Blue sclerae OMIM:614438
Congenital Myopathy 20
Blue sclerae OMIM:620310
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Death in infancy, Sple... OMIM:615512
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Abnormal optic disc morphology, Blue sclerae, Optic atrophy ORPHA:363417
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Abnorm... ORPHA:436252
Fragile X Tremor/Ataxia Syndrome
Impotence, Premature ovarian insufficiency, Urinary incontinence OMIM:300623
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of retinal pigmentation, Heart block, Abnormality of the pancreas, Card... ORPHA:175
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Splenomegaly, Cryp... ORPHA:1655
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasia, Hypopla... OMIM:619321
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor... ORPHA:536545
Occipital Horn Syndrome
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Esophagitis, Vascul... ORPHA:198
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Usher Syndrome
Abnormality of retinal pigmentation, Cataract, Abnormal cardiovascular system physiology, Decreas... ORPHA:886
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Renal tubular dysfunction, Blue sclerae, Cirrhosis, Glycosuria, Hypertro... OMIM:616539
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Urinary urgency, Impotence, Urinary retention, Erectile dysfunction, Asp... ORPHA:99027
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Pe... OMIM:618460
White Forelock With Malformations
Blue sclerae, White forelock ORPHA:2475
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abn... ORPHA:33226
Sheehan Syndrome
Dyspareunia, Orthostatic hypotension, Decreased female libido, Normochromic anemia, Impotence, Hy... ORPHA:91355
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Prominent superficial veins, Acute pancreatitis, Labial pseudohypertrophy, Polycyst... OMIM:151660
Temtamy Preaxial Brachydactyly Syndrome
Blue sclerae, Optic atrophy OMIM:605282
Lead Poisoning
Decreased female libido, Miscarriage, Skin rash, Abnormality of the menstrual cycle, Chronic kidn... ORPHA:330015
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:99413
Mosaic Monosomy X
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:99228
Monosomy X
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:99226
Turner Syndrome
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:881
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Blue sclerae ORPHA:391408
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Acne, Irregular menstruation, Nephrolithiasis, Hypertension, Ab... ORPHA:189427
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious encephalitis... ORPHA:1304
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Osteomyelitis, Cataract, Pigmentary retinopathy, Rod-con... ORPHA:88628
Melas
Wolff-Parkinson-White syndrome, Hypogonadotropic hypogonadism, Proteinuria, Cardiac conduction ab... ORPHA:550
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recu... OMIM:618935
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Retinal detachment, Keratoconus, Congestive heart failure, Recurrent... OMIM:225400
X-Linked Adrenoleukodystrophy
Impotence, Urinary bladder sphincter dysfunction, Neurogenic bladder ORPHA:43
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Optic at... OMIM:253260
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Posterior subcaps... ORPHA:536471
Osteogenesis Imperfecta, Type V
Blue sclerae OMIM:610967
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal vertebral ... ORPHA:247245
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Osteogenesis Imperfecta, Type Xix
Blue sclerae OMIM:301014
Osteogenesis Imperfecta, Type Ix
Blue sclerae OMIM:259440
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisov... OMIM:210200
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Grant Syndrome
Blue sclerae OMIM:138930
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Impaired pl... OMIM:601399
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Aspiration pneumonia ORPHA:216866
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Atrial fibrillation, Prolonged QRS complex,... ORPHA:273
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Blue sclerae ORPHA:2840
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Abno... ORPHA:193
Medulloblastoma
Elevated hepatic transaminase, Cerebellar hemorrhage ORPHA:616
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Genita... OMIM:602450
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Lower limb muscle weakness, Quadriceps muscle atrophy ORPHA:199244
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lympha... OMIM:617591
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... OMIM:612541
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Orthostatic hypotension, Urinary incontinence, Urinary urgency, Impotence OMIM:146500
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Cataract, Esophagitis, Hepatic steatosis OMIM:615356
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Megaloblastic anemia, H... OMIM:277400
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Saul-Wilson Syndrome
Cataract, Prominent superficial veins, Blue sclerae, Neutropenia OMIM:618150
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Interstitial pneumonitis, Vasculitis in the skin, Anemia OMIM:620296
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Primary amenorrhea, Pigmentary retinopathy, H... ORPHA:2235
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Transient aminoaciduria... OMIM:229600
Digeorge Syndrome
Sclerocornea, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, Acne, Pate... OMIM:188400
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... ORPHA:98908
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
Marshall-Smith Syndrome
Blue sclerae, Optic atrophy ORPHA:561
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated card... ORPHA:255210
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Shock, Renal insufficiency, Maculopapular exanthema, Skin rash, Mi... ORPHA:319213
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosple... OMIM:260920
Neonatal Marfan Syndrome
Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Ascending tubular aorta aneu... ORPHA:284979
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Impotence, Syncope OMIM:608088
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Flexion contracture, Stroke-l... ORPHA:86309
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Abnormality of skin pigmentation, Chorioretinal coloboma, Otitis media, Juvenile c... OMIM:619475
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Pr... ORPHA:636
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic... OMIM:600462
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Pycnodysostosis
Blue sclerae, Hepatosplenomegaly ORPHA:763
Proteus Syndrome
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Abnormality of ski... ORPHA:744
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Blue sclerae OMIM:620250
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass OMIM:616507
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a... OMIM:216550
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Blue sclerae OMIM:617101
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Micropenis OMIM:614230
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Hepatomegaly, H... ORPHA:1775
Marshall-Smith Syndrome
Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Prema... OMIM:602535
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenome... ORPHA:1572
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Blue sclerae OMIM:612940
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Clitora... OMIM:616894
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis, Exocrine p... OMIM:616263
Osteogenesis Imperfecta, Type Xiv
Blue sclerae OMIM:615066
Ehlers-Danlos Syndrome, Periodontal Type, 1
Pretibial hyperpigmentation, Prominent superficial veins, Blue sclerae, Periodontitis OMIM:130080
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Blue sclerae, Organic a... OMIM:619743
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Proteinuria, Skin rash, Myocardial infarction, Orchitis, Spl... ORPHA:342
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Cryptorchidism, ... OMIM:268300
Syndromic Diarrhea
Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastoma, He... ORPHA:84064
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Death in infancy, Seborrheic dermatitis, Microvesicular hepatic steatosis, Patent d... OMIM:300868
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Mixed astigmatism, Attenuation of re... OMIM:617023
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Retinal detachment, Tricuspid regurgitation, Recurrent skin infections, Cry... OMIM:601776
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen... OMIM:611881
Kabuki Syndrome 2
Horseshoe kidney, Coarctation of aorta, Blue sclerae, Pulmonic stenosis, Recurrent otitis media OMIM:300867
Kearns-Sayre Syndrome
Sideroblastic anemia, Pigmentary retinopathy, Cardiomyopathy, Renal Fanconi syndrome, Renal tubul... OMIM:530000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Death in early adulthood ORPHA:192
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Corneal crystal... OMIM:219900
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Primary amenorrhea, Increased muscle glycogen content, Pigmentary retinopathy,... ORPHA:502423
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... ORPHA:2232
Kabuki Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Precocious puberty, Cryptorchidism... ORPHA:2322
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Cataract, Optic disc hypoplasia, Hypogonadotropic hypogonadism, Hypospadia... ORPHA:3455
Spondylometaphyseal Dysplasia, Pagnamenta Type
Blue sclerae OMIM:619638
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Blue scler... ORPHA:488627
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Blue sclerae, Congestive heart failure OMIM:166210
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Vulval varicose vei... ORPHA:71273
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Corneal erosion, Blue sclerae, Vesicoureteral reflux, Megalocornea, Corneal... OMIM:609460
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy, Subdural hemorrhage OMIM:619714
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Xeroderma Pigmentosum, Complementation Group B
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Freckling OMIM:610651
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Astigmatism ORPHA:1824
Osteogenesis Imperfecta, Type Xi
Elevated circulating alkaline phosphatase concentration, Blue sclerae OMIM:610968
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Microcornea, Iris coloboma, Abnorm... ORPHA:3380
Autosomal Recessive Robinow Syndrome
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephros... ORPHA:1507
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... ORPHA:2177
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Acromegaly
Generalized hyperpigmentation, Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Acne, Osteoa... ORPHA:963
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Inflammatory abnormality of ... ORPHA:565612
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Osteogenesis Imperfecta, Type Xv
Blue sclerae OMIM:615220
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... ORPHA:50
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis, Pre... OMIM:615947
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... ORPHA:2526
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Microcornea, Ascending tubular aorta aneurysm, Aortic root aneurysm, Bl... ORPHA:536467
Gangliocytoma
Impotence, Decreased female libido, Amenorrhea ORPHA:251937
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Blue sclerae, Arterial rupture OMIM:619120
Osteogenesis Imperfecta, Type Xiii
Blue sclerae, Enuresis nocturna OMIM:614856
Arachnoid Cyst
Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage ORPHA:2356
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Astigmatism, Hepatic steatosis, Urinary incontinence OMIM:619934
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Osteoarthritis, Abnormality of skin pigmentation, Blue sclerae, Period... ORPHA:286
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Blue sclerae OMIM:259420
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spinocerebellar Ataxia Type 8
Impotence, Urinary incontinence ORPHA:98760
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Cardiomegaly, Developmental glaucoma, Aortic root aneurysm, Blue sclerae, Left ventricular hypert... OMIM:245600
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Microcornea, Bladder diverticu... OMIM:614557
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Hypertension, Impotence, Hypotension, Urinary bladder sphincter dysfunction ORPHA:93256
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Cryptorchidism, Epispadia... ORPHA:322
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Abnormal capillary morphol... ORPHA:542643
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Corneal opacity, Abnormality of the ... ORPHA:2072
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sinusi... OMIM:251260
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Blue sclerae, Arterial rupture OMIM:619115
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Brachycephaly, Trichomegaly, And Developmental Delay
Blue sclerae OMIM:617412
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Retinoblastoma
Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,... ORPHA:790
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Meningioma
Papilledema, Hypogonadotropic hypogonadism, Urinary incontinence, Cerebral hemorrhage, Impotence,... ORPHA:2495
Loeys-Dietz Syndrome 5
Eosinophilic infiltration of the esophagus, Osteoarthritis, Aortic root aneurysm, Blue sclerae, A... OMIM:615582
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Death in infancy, Splenomegaly, Recurrent pneumonia, Optic atrophy, Death in childh... OMIM:612301
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage OMIM:613603
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Ureteral duplication, Uterus didelphys ORPHA:1756
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Hematemesis, Shortened QT interval, Insulinoma, Nephrolithiasis, Thymom... ORPHA:652
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Calcification of the aorta, Opacification... OMIM:231005
Osteogenesis Imperfecta, Type X
Blue sclerae, Nephrolithiasis, Recurrent pneumonia, Death in childhood OMIM:613848
Ogden Syndrome
Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency anemia, ... OMIM:300855
Cole-Carpenter Syndrome 2
Blue sclerae OMIM:616294
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis OMIM:238600
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis OMIM:207750
Young-Onset Parkinson Disease
Female sexual dysfunction, Male sexual dysfunction ORPHA:2828
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Blue sclerae, Chordee OMIM:616728
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, Premature grayi... ORPHA:163746
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Jaundice, Red urine,... OMIM:263700
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy... OMIM:301000
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descending... OMIM:610168
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Blue sclerae, Conjunctivitis, Renal cyst OMIM:615560
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... OMIM:619329
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... OMIM:613471
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplas... ORPHA:3107
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Chemosis, Conjunctival hyperemia, Hyp... ORPHA:95455
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary re... ORPHA:96180
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363958
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Primary amenorrhea OMIM:617675
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro... ORPHA:157850
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Thr... ORPHA:50918
Roberts Syndrome
Clitoral hypertrophy, Cataract, Cryptorchidism, Long penis, Blue sclerae, Polycystic kidney dyspl... ORPHA:3103
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Cerebral hemorrhage, Flexion contracture, ... ORPHA:666
Somatomammotropinoma
Generalized hyperpigmentation, Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Osteoarthrit... ORPHA:314769
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm, Blue sclerae OMIM:615349
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Septate vagina, Dis... ORPHA:237
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Corneal crystals, Renal tubular dysfunction, Pigmentary retinopathy, Aminoacid... ORPHA:411629
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Cryptorchidism, Patent ductus arteriosus, Ulcerative colitis, Blue sclerae, P... OMIM:617137
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia ORPHA:420741
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Proteinuria, Elevated hemog... OMIM:619127
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Desbuquois Dysplasia 2
Blue sclerae OMIM:615777
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Chorioretinal lacunae, Multiple renal cysts, Reti... OMIM:618733
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Atopic dermatitis, Urinary incontinence, Cataract ORPHA:466768
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Cholelithiasis, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm ... ORPHA:77293
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Loeys-Dietz Syndrome 1
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descending thoracic aorta aneury... OMIM:609192
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Blue sclerae, Hypospadias, Chordee ORPHA:477993
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormal cerebral vascular morphology, Seborrheic dermatitis, Abnorma... ORPHA:276280
Loeys-Dietz Syndrome
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Blue sclerae, Uterine rupture, Aor... ORPHA:60030
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Premature thel... OMIM:147920
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Vertebral Hypersegmentation And Orofacial Anomalies
Blue sclerae OMIM:619122
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Blue sclerae, Iris coloboma ORPHA:1236
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Optic nerve hypoplasia, Unilateral renal agenesis,... ORPHA:500150
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Osteogenesis Imperfecta, Type Xviii
Blue sclerae OMIM:617952
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Ketonuria, Hypospadias, Microvesicular hepatic steatosis, Coarctation of aorta,... OMIM:220111
Myhre Syndrome
Abnormal penis morphology, Cataract, Hypospadias, External genital hypoplasia, Precocious puberty... ORPHA:2588
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Sex reversal, Pulmonic stenosis ORPHA:139466
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Blue sclerae OMIM:225410
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... OMIM:175780
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Cataract, Polyuria, Pulmonary arteriovenous malformation, Developmental ... OMIM:606721
Osteogenesis Imperfecta, Type Xx
Blue sclerae OMIM:618644
Pudendal Neuralgia
Dyspareunia, Dysuria, Pollakisuria, Impotence, Scrotal pain ORPHA:60039
Cole-Carpenter Syndrome
Blue sclerae ORPHA:2050
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Cataract, Hypospadias, Pneumonia, Cryptorchidism, Long penis, Blue sclerae... OMIM:264090
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Mitral regurgitation, Dilated cardiomyopathy, Cataract OMIM:607459
Lambert-Eaton Myasthenic Syndrome
Keratoconjunctivitis sicca, Impotence, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Carpenter Syndrome 2
Tricuspid regurgitation, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Blue... OMIM:614976
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Ramon Syndrome
Optic disc pallor, Enlarged labia minora, Telangiectasia, Pigmentary retinopathy, Axenfeld anomal... OMIM:266270
Clapo Syndrome
Varicose veins, Venous malformation ORPHA:168984
Osteogenesis Imperfecta, Type I
Blue sclerae, Aortic aneurysm OMIM:166200
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Renal hypoplasia, Venous malformation OMIM:612918
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Generalized hyperpigmentation, Hypospadias, Epispadias, Abnormality of... ORPHA:3339
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Cardiospondylocarpofacial Syndrome
Hypoplastic aortic arch, Horseshoe kidney, Mitral regurgitation, Blue sclerae, Recurrent otitis m... OMIM:157800
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Cataract, Renal cyst OMIM:272460
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Congenital diaphragmatic hernia, Contracture of the distal interphalange... OMIM:613406
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Mitral regurgitation, Blue sclerae, Ectopia lentis OMIM:271640
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Osteogenesis Imperfecta, Type Vii
Death in infancy, Hypoplastic pulmonary veins, Absent pulmonary artery, Blue sclerae, Hydronephrosis OMIM:610682
Osteogenesis Imperfecta, Type Iv
Blue sclerae OMIM:166220
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Shawl scrotum ORPHA:2211
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal degeneration... OMIM:234200
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Perica... ORPHA:79318
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Cataract, Enlarged polycystic ovaries, Hypopigm... ORPHA:201
Microphthalmia With Limb Anomalies
Death in infancy, Venous insufficiency, Cryptorchidism, Optic atrophy, Horseshoe kidney ORPHA:1106
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Blue sclerae OMIM:130070
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Cryptorchidism, Epispadias, ... ORPHA:2658
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Epispadias, Hy... ORPHA:2461
Wrinkly Skin Syndrome
Cryptorchidism, Atrial septal dilatation, Blue sclerae OMIM:278250
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Abnormality of the menstrual cycle, Venous insufficiency, Osteoarthritis, Cystocele,... ORPHA:285
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... ORPHA:3404

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Serpinc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Serpinc1.

No publications found that use IMPC mice or data for Serpinc1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Serpinc1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Serpinc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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