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Gene: Fbrsl1 MGI:1920907

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Gene Summary

Name:
fibrosin-like 1
Synonyms:
Gm29766,  2410025L10Rik,  LOC381668

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
small seminal vesicle Fbrsl1em1(IMPC)Tcp HOM Early adult 0.00
small thymus Fbrsl1em1(IMPC)Tcp HOM Early adult 0.00
small epididymis Fbrsl1em1(IMPC)Tcp HOM Early adult 0.00
abnormal liver morphology Fbrsl1em1(IMPC)Tcp HOM Early adult 0.00
prolonged QRS complex duration Fbrsl1em1(IMPC)Tcp HOM Early adult 4.22×10-09
abnormal tail morphology Fbrsl1em1(IMPC)Tcp HOM Early adult 3.54×10-06
small testis Fbrsl1em1(IMPC)Tcp HOM Early adult 0.00
enlarged spleen Fbrsl1em1(IMPC)Tcp HOM Early adult 0.00
increased red blood cell distribution width Fbrsl1em1(IMPC)Tcp HOM Early adult 9.21×10-07
abnormal sternum morphology Fbrsl1em1(IMPC)Tcp HOM Early adult 0.00
abnormal retina morphology Fbrsl1em1(IMPC)Tcp HOM   Early adult 5.84×10-05
vertebral fusion Fbrsl1em1(IMPC)Tcp HOM Early adult 8.56×10-05
increased grip strength Fbrsl1em1(IMPC)Tcp HOM   Early adult 9.56×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

88 Images

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Eye Morphology

Images Ophthalmoscopy

96 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

4 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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Human diseases caused by Fbrsl1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbrsl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregul... OMIM:602271
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Syndactyly, Anemia of inadequate production, Ani... OMIM:224120
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hemochromatosis, Type 1
Arthropathy, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellitus, Hypogonadotropic hyp... OMIM:235200
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ... ORPHA:485
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... OMIM:613313
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet... ORPHA:2332
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency... ORPHA:93315
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Azoospermia, Infertility, Scoliosis, Thoracic h... ORPHA:1445
Aarskog-Scott Syndrome
Short palm, Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Cryptorchidi... ORPHA:915
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Rocker bottom foot, Anisocytosis, Flexion contracture, Camptodactyly OMIM:604273
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebr... ORPHA:2522
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Gorlin Syndrome
Vertebral fusion, Hypogonadotropic hypogonadism, Arachnodactyly, Cryptorchidism, Hemivertebrae, V... ORPHA:377
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... ORPHA:71275
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Sandhoff Disease
Hepatomegaly, Splenomegaly, Kyphosis, Congestive heart failure, Cherry red spot of the macula ORPHA:796
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... ORPHA:313892
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Spinal rigidity, Sudden cardiac death, Neck joint contractur... OMIM:181350
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Cardiomegaly, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, Hypogonado... ORPHA:465508
Diaphanospondylodysostosis
Missing ribs, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... ORPHA:66637
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly, Abnormal circu... ORPHA:417
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Caudal Regression Syndrome
Maternal diabetes, Joint stiffness, Missing ribs, Cryptorchidism, Aplasia/Hypoplasia of the sacru... ORPHA:3027
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... ORPHA:1436
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect OMIM:618845
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... OMIM:613702
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Hypogonadism, Joint contracture OMIM:608540
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo... ORPHA:3320
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemive... ORPHA:2916
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... OMIM:178110
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... ORPHA:79301
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Bone pain, Anemia, Erlenmeyer flask deform... OMIM:610539
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Optic disc pallor, Recurrent fract... OMIM:611490
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Missing ribs, Hemiverte... OMIM:271520
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenome... OMIM:230800
Muscle Filaminopathy
Back pain, Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Lef... ORPHA:171445
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... ORPHA:882
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Verheij Syndrome
Joint laxity, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hemivertebrae, Hip dislocatio... OMIM:615583
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae, Micropenis, D... OMIM:268310
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Achilles tendon contracture, Forearm supination contracture, Knee flex... OMIM:300695
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology... OMIM:607616
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Hypoplasia of penis, Congenital hip dislocation, Accelerated skeletal matura... ORPHA:373
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he... ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Splenomegaly, Osteolysis, Fused cervical v... OMIM:612852
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul... OMIM:228000
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal os... OMIM:602557
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplas... OMIM:206900
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia ORPHA:100024
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Anemi... ORPHA:563
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Babesiosis
Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Myocardial infarction, Splenomegaly,... ORPHA:108
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Right axis deviation, Elevated jugular venous pressure, Congestive heart fail... OMIM:255160
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Hepatomegaly, Short metacarpal, Eosinophilia, Noncomp... OMIM:616651
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Sandal gap, Splenomegaly, Ascites, Anemia ORPHA:1046
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Bone pain, ... ORPHA:37748
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Missing ribs, Precociou... ORPHA:50
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Cryptorchidism, Osteoarthritis, Genera... OMIM:618000
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Car... OMIM:115197
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy OMIM:607685
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Gaucher Disease Type 2
Splenomegaly, Flexion contracture, Cardiac arrest, Hepatomegaly ORPHA:77260
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Cryptorchidism, Delayed skeletal maturation, Epispadias... OMIM:148050
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Delayed skeletal maturation, Jaundice, Cholestasis, Reduced bone mine... ORPHA:172
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... OMIM:607155
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Koolen-De Vries Syndrome
Vertebral fusion, Hypospadias, Arachnodactyly, Kyphosis, Cryptorchidism, Hip dislocation, Joint h... ORPHA:96169
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... OMIM:618641
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... OMIM:151200
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Gaucher Disease Type 1
Osteopenia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Biliary tract obstruction,... ORPHA:77259
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Kyp... OMIM:109400
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Alpha-Mannosidosis
Hepatomegaly, Bowing of the long bones, Short neck, Kyphosis, Delayed skeletal maturation, Spleno... ORPHA:61
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Cholestasis, Genu valgum, Cone-shaped epi... OMIM:615630
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Hypogonadism, Cholelith... OMIM:160900
Wilson Disease
Back pain, Hepatomegaly, Acute hepatitis, Acute hepatic failure, Elevated hepatic transaminase, A... ORPHA:905
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobility, Spinal cana... ORPHA:93476
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Delayed skeletal maturation, Hypogonadism, Testicula... OMIM:618165
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebr... OMIM:118100
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal limb bone morphology, Hepatomegaly ORPHA:2204
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca... OMIM:108720
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... OMIM:305400
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormalit... ORPHA:464329
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Leukopenia, Cholecystitis, I... ORPHA:99827
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Decrea... OMIM:213980
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabul... OMIM:617159
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Hypospadias, Tarsal synostosis, Camptod... ORPHA:90652
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Rod-cone dystrophy, ... OMIM:252930
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... OMIM:278000
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Cryptorchidism, Hip dislocati... OMIM:610443
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, ST segment elevation, Ventricular tachycardia,... ORPHA:263297
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused ... ORPHA:1724
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, Cervical C2/C3 vertebra... OMIM:616549
Aicardi Syndrome
Retinal detachment, Block vertebrae, Proximal placement of thumb, Missing ribs, Precocious pubert... OMIM:304050
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope... OMIM:259700
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Short neck, Absent... OMIM:609053
Von Hippel-Lindau Disease
Back pain, Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal p... ORPHA:892
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Acro-Renal-Ocular Syndrome
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... ORPHA:959
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Sclerosis of skull base, Scoliosis, Wormi... OMIM:130720
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Opsismodysplasia
Hepatomegaly, Abnormally ossified vertebrae, Joint stiffness, Tapered finger, Splenomegaly, Delay... ORPHA:2746
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Cardiomegaly, Joint stiffness, Splenomegaly, Ovoid thoracolumbar ve... OMIM:252920
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Decreased skull ossification, Testicu... OMIM:601163
Lamb-Shaffer Syndrome
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Leopard Syndrome 1
Bundle branch block, Hypospadias, Kyphoscoliosis, Limited elbow movement, Short neck, Cryptorchid... OMIM:151100
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction ORPHA:206559
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Short neck, Splenomegaly, Micronodular cirrhosi... OMIM:606003
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Gm1-Gangliosidosis, Type I
Hepatomegaly, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lym... OMIM:230500
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cryptorchidism, Short toe, 2-3 ... OMIM:139210
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Abnormal optic disc morphology, Thoraci... ORPHA:508498
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymm... OMIM:252900
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Complete Atrioventricular Septal Defect
Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Cardiomegaly, Right ventricular fai... ORPHA:1329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thr... ORPHA:79312
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome... OMIM:620076
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal... OMIM:211600
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Joubert Syndrome 33
Cone/cone-rod dystrophy, Splenomegaly, Syndactyly OMIM:617767
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema, Short neck ORPHA:3456
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Cinca Syndrome
Joint dislocation, Hepatomegaly, Abnormality of neutrophils, Delayed closure of the anterior font... ORPHA:1451
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion, Hypospadias, Pseudoepi... OMIM:194190
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Jaundice, Anemia, Type I diabete... ORPHA:290
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Hypere... OMIM:227330
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... OMIM:613812
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
8P11.2 Deletion Syndrome
Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dyst... ORPHA:251066
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... OMIM:614008
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Amyloidosis, Familial Visceral
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly OMIM:105200
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong... OMIM:601214
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Tapered finger, Optic atrophy, Right bundle branch block, Mitral regurgi... OMIM:619576
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Leu... ORPHA:1328
Myotonic Dystrophy 2
Tachycardia, Oligozoospermia, Right bundle branch block, Premature ventricular contraction, Hypog... OMIM:602668
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... ORPHA:158029
Aapoaiv Amyloidosis
Back pain, Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibri... ORPHA:439232
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Short neck, Metaphyseal chondrodysplasia, Heart block, Abnormal ... ORPHA:175
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Robinow Syndrome
Fused thoracic vertebrae, Decreased serum testosterone concentration, Syndactyly, Small scrotum, ... ORPHA:97360
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Limited elbow movement, Spinal rigidity, Hyperlordosis, Cardiomegaly, Limited knee ... ORPHA:268
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ... OMIM:617796
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys... OMIM:256550
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Delayed skeletal maturat... OMIM:612714
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:254361
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Muckle-Wells Syndrome
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Vasculitis, Optic atrophy, Arthritis, Delaye... ORPHA:575
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Intracr... ORPHA:85212
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Felty Syndrome
Hepatomegaly, Pericarditis, Thrombocytopenia, Abnormal joint morphology, Limitation of joint mobi... ORPHA:47612
Scarf Syndrome
Bifid scrotum, Craniosynostosis, Short neck, Cryptorchidism, Hepatocellular adenoma, Abnormal for... ORPHA:3134
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st... OMIM:612526
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Hepatic fibrosis, Foot ol... OMIM:616589
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... ORPHA:264580
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... ORPHA:79277
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... ORPHA:1826
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Retinal degeneration, Hepatomegaly, Hypopl... OMIM:607014
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Hypospadias, Myocardial infarction, Cryptorchidism, Decreased fertility, Hyp... ORPHA:500
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Kyphosis, Splenomegaly... OMIM:615512
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal ri... ORPHA:3035
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... ORPHA:79083
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Anterior wedging o... OMIM:253200
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Portal ... OMIM:613385
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Chops Syndrome
Splenomegaly, Cryptorchidism, Optic atrophy, Tracheomalacia, Cervical C2/C3 vertebral fusion, Bra... OMIM:616368
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Craniosynostosis, Accelerated s... ORPHA:525731
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... ORPHA:75233
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Scoliosis ORPHA:589821
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Joint stiffness, Coxa valga, Splenomegaly, Optic atrophy, Hypoplastic vertebral bod... OMIM:230600
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Optic disc hypoplasia, Absent thum... OMIM:607323
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Delayed skeletal maturation, Splenomegaly, Elbow flexion contractur... OMIM:618440
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Heart block, Splenomegaly, Cardiomyopathy,... ORPHA:773
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Short neck, Thrombocytopenia, Splenomegaly, Flexion contracture, Metaphyseal wideni... OMIM:617303
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... ORPHA:77297
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia, Short 5th metacarpal ORPHA:66518
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone con... ORPHA:2796
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Abnorm... ORPHA:158061
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Joint stiffness, Splenomegaly, Metatars... ORPHA:584
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Accelerated skeletal maturation, Short neck, Flexion contracture, Narrow greater ... OMIM:253220
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Pulmonic stenosis,... ORPHA:2414
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Short neck, Absent radius, Preaxial hand ... ORPHA:233
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated hepatic transaminase, Left bundle branch block, Abnormality of the liver, Arrhythmia, Ve... OMIM:610131
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly... ORPHA:583
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Joint stiffness, Kyphosis, Contractu... OMIM:607015
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone pain, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteopo... ORPHA:98849
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Elevated hepatic transaminase, Spi... ORPHA:2137
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Thyroiditis, Lymphadenopathy, ... ORPHA:39041
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine... OMIM:611881
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Joint swelling, Juvenile rheumatoid ar... ORPHA:85414
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Optic atrophy, Right bundle branch block, Slender long bone, Scoliosis, Joint hypermo... OMIM:618590
Eisenmenger Syndrome
Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, Supraventricular tachy... ORPHA:97214
Hurler Syndrome
Hepatomegaly, Angina pectoris, Camptodactyly of finger, Abnormality of the tonsils, Short neck, S... ORPHA:93473
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Optic atrophy, Cervical C5/C6... ORPHA:87
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension... OMIM:193300
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ... ORPHA:131
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Biliary hyperplasia, Con... ORPHA:83617
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly OMIM:620296
Marbach-Rustad Progeroid Syndrome
Femur fracture, Reduced bone mineral density, Right bundle branch block, Short clavicles, Wormian... OMIM:619322
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillation, Elevated hepat... OMIM:613327
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia OMIM:605309
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Short neck, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary ly... ORPHA:1655
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Angina pectoris, Lymphadenopathy ORPHA:79292
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Cryptorchidism,... OMIM:617137
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... OMIM:157800
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Elevated hepatic tran... OMIM:300972
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Mucolipidosis Ii Alpha/Beta
Osteopenia, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Thoracolumbar kyphoscoliosis, Hypop... OMIM:252500
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... ORPHA:91138
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid reg... OMIM:614866
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Osteoporosis, Hepatocell... ORPHA:79240
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Block vertebrae, Cardiomegaly, A... OMIM:306955
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure ORPHA:90037
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Cryptorchidism, Erythroid hypoplasia, Thrombocytopen... OMIM:612541
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated c... OMIM:615895
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Meier-Gorlin Syndrome 7
Joint laxity, 2-4 finger syndactyly, Hypospadias, Sagittal craniosynostosis, Craniosynostosis, Ap... OMIM:617063
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Scorpion Envenomation
Bundle branch block, Acute pancreatitis, Tachycardia, Elevated circulating aspartate aminotransfe... ORPHA:466677
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Flexion contracture,... OMIM:617591
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Congenital hepati... ORPHA:1454
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... OMIM:617190
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Joint stiffness, Media... ORPHA:809
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Bilateral cryptorchidism, Congestive heart failure, Hip dislocation, Micropenis, ... OMIM:617403
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Multiple Sulfatase Deficiency
Hepatomegaly, Broad hallux phalanx, Abnormality of retinal pigmentation, Joint stiffness, Splenom... ORPHA:585
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... OMIM:235555
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Optic nerve hypoplasia, Craniosynostosis, Short neck, Cryptorchidism, De... OMIM:617506
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Optic d... OMIM:259720
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm... OMIM:214500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Joint hypermobility, Macular atrophy, Splenomegaly, Microvesicula... OMIM:619418
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Genu recurvatum, Splenomegaly, Abnormality of the parathy... ORPHA:2969
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... ORPHA:90033
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level, Decreased serum lepti... ORPHA:280365
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... OMIM:232220
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fib... ORPHA:171
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy OMIM:619183
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocyto... ORPHA:1304
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Polyarti... OMIM:617388
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra, Hip dislocation, Megaloblastic anemia OMIM:300322
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ri... OMIM:269150
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility ORPHA:93474
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hypoplastic scapulae, Short neck, Bowing of the legs, Splenomegaly, Short toe, Shor... OMIM:269860
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Diabetes mellitus, Thoracolumbar scoliosis, Sagittal craniosynostosis, ... OMIM:610199
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy... OMIM:615688
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... ORPHA:70591
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Recurrent ... ORPHA:1775
Blau Syndrome
Pericarditis, Camptodactyly of finger, Abnormal retinal vascular morphology, Splenomegaly, Retrob... ORPHA:90340
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Hepatomegaly, Femur fracture, Splenomegaly, Optic atrophy, Osteopetrosis,... OMIM:612301
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... ORPHA:3260
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonic stenosis... OMIM:616028
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Recurrent fractures, Splenomegaly, Primary hyperparathyroidism, Elevated circulatin... OMIM:239200
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Adrenal calcification, Cardiomegaly, Abnormal retinal artery morpho... ORPHA:51608
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr... OMIM:153670
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Tapered f... OMIM:613458
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Telangiectases of the cheeks, Prominent ... ORPHA:576
Cockayne Syndrome A
Hip contracture, Hepatomegaly, Retinal atrophy, Kyphosis, Cryptorchidism, Limitation of joint mob... OMIM:216400
Wilson Disease
Acute hepatic failure, Osteoarthritis, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, H... OMIM:277900
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Gaucher Disease
Osteopenia, Joint dislocation, Osteoarthritis, Bone pain, Cherry red spot of the macula, Avascula... ORPHA:355
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Aortic regurgitation, Tricuspid regurgitation, Overlapping toe, Kyphoscoliosis, Bil... OMIM:617402
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Splenomegaly, Myocardit... ORPHA:781
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal vertebra... ORPHA:217085
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... OMIM:263200
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone... ORPHA:667
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia OMIM:139090
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... OMIM:269700
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal vertebra... ORPHA:217093
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Rectovaginal fistula, Short neck ORPHA:1780
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, ... OMIM:617088
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Pathologic fractu... OMIM:263700
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5t... OMIM:136140
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthriti... ORPHA:342
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Cardiomegaly, Flexion contracture, Bone pain, Elevated circulating thyroid-sti... OMIM:256040
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... OMIM:276700
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Delayed skeletal ma... ORPHA:77261
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscul... ORPHA:90041
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... OMIM:608594
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the you... OMIM:137920
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L... OMIM:260920
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Recurrent fractures, Kyphoscoliosis, Arachnodactyly, Kyphosis, Cryptorchid... ORPHA:3063
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth... OMIM:249100
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hypospadias, Decreased response to growth hormone stimulation test, Hypothyroidism... ORPHA:444077
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopen... ORPHA:77293
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Pancytopenia, Papilledema, Abnormality of the sp... ORPHA:2072
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the vert... ORPHA:744
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Lipemia retinalis, Hepatomegaly OMIM:207750
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Orchitis, Abnormal sacroiliac joint morphology, Leukocytosis, Splenomegaly, Periton... ORPHA:32960
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vascu... ORPHA:1572
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Primary Hyperoxaluria
Elevated hepatic transaminase, Optic disc pallor, Choroidal neovascularization, Recurrent fractur... ORPHA:416
Elsahy-Waters Syndrome
Bifid scrotum, Hypospadias, Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cut... OMIM:211380
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... ORPHA:273
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Delayed closure of the ... OMIM:303600
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Cardiomyo... ORPHA:565612
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... OMIM:233710
Simpson-Golabi-Behmel Syndrome, Type 1
Accelerated skeletal maturation, Vertebral segmentation defect, Narrow greater sciatic notch, Sho... OMIM:312870
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis OMIM:238600
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire... OMIM:233690
Aspartylglucosaminuria
Hepatomegaly, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Delayed skeletal matura... ORPHA:93
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Enlarged joints, Hypospadias, Brachydactyly, Kyphoscoliosis, ... ORPHA:2044
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Mediastinal lymphadeno... OMIM:181000
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis OMIM:615947
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phenomenon, Spl... OMIM:613471
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hemolyt... ORPHA:797
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Accelerated skeletal m... ORPHA:64
Johanson-Blizzard Syndrome
Hepatic fibrosis, Clinodactyly of the 5th finger, Micropenis, Hypothyroidism, Joint laxity, Hepat... OMIM:243800
Craniorachischisis
Bifid sternum ORPHA:63260
Craniofacial Microsomia 1
Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, Cervical ribs,... OMIM:164210

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 Fbrsl1

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 Fbrsl1.

No publications found that use IMPC mice or data for Fbrsl1.

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
Fbrsl1em1(IMPC)Tcp Exon Deletion Mice
Fbrsl1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fbrsl1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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