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Gene: Rbm7 MGI:1914260

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
RNA binding motif protein 7
Synonyms:
1500011D06Rik,  1200007M24Rik

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 Rbm7 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 Rbm7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Pancytope... OMIM:618986
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Pulmonary fibrosis, Cirrhosis, Leukemia, Myeloid leukemia OMIM:614743
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Pulmonary f... OMIM:178500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Pulmonary fibrosis, Usual interstitial pneumonia OMIM:616373
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Immunodeficiency 11A
Monocytopenia, Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T c... OMIM:615206
Idiopathic Pulmonary Fibrosis
Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary fibrosis, R... ORPHA:2032
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Pneumonia, Eosinophilia, Splenomega... OMIM:226990
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Autosomal Recessive Spastic Paraplegia Type 70
Nephrotic syndrome, Abnormal pulmonary interstitial morphology ORPHA:401835
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... ORPHA:210136
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Autoimmune hemolytic anem... OMIM:619802
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine aminotransferase concentra... OMIM:613759
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Anemia, Pulmonary fibrosis, Cirrhosis, Reticular pattern on pulmon... OMIM:614742
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Porphyrinuria OMIM:176090
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy... OMIM:618913
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Splenomegaly, Thrombocyto... OMIM:607616
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function ORPHA:306550
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholesta... OMIM:619858
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphol... OMIM:612387
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Splenoportal Vascular Anomalies
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro... ORPHA:369
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Abnormal localization of kidney, Prolonged neonatal jaundice ORPHA:446
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Nodular pattern on pulmonary HRCT ORPHA:60026
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Reticulonodular pattern on pulm... ORPHA:133
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... OMIM:619644
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... OMIM:616629
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pn... OMIM:615518
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Hy... OMIM:619111
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... ORPHA:99931
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lo... OMIM:615415
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumoni... OMIM:618935
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Pulmonary fibrosi... OMIM:618394
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Senior-Loken Syndrome
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth... ORPHA:3156
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia OMIM:620365
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Surfactant Metabolism Dysfunction, Pulmonary, 3
Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... OMIM:610921
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Abno... ORPHA:79124
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly,... ORPHA:47612
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, T lymphocytopenia, Pulmonary fibrosis, Decreased proportion of ... OMIM:619510
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Pulmonary fibros... OMIM:613989
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Pulmonary fibrosis OMIM:615704
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Meckel Syndrome, Type 6
Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplas... OMIM:612284
Aspergillosis
Pneumonia, Abnormality of the kidney, Eosinophilia, Hypersensitivity pneumonitis, Hepatitis, Bron... ORPHA:1163
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Pulmonary fibrosis, Abnormally low T cell receptor excision circle level OMIM:619767
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephr... OMIM:616414
Surfactant Metabolism Dysfunction, Pulmonary, 2
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des... OMIM:610913
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Diffuse Alveolar Hemorrhage
Proteinuria, Thrombocytopenia, Leukocytosis, Hematuria, Pulmonary fibrosis, Irregular septal thic... ORPHA:90060
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator... OMIM:263000
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Hereditary Mucoepithelial Dysplasia
Hematuria, Recurrent respiratory infections, Pulmonary fibrosis, Abnormality of the bladder ORPHA:1839
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava... OMIM:619611
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... OMIM:216360
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... OMIM:615630
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis OMIM:232400
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... OMIM:127550
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Hepatic fibrosis, Portal hypertension, Abnormally low T cell receptor excision circ... OMIM:617341
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Mixed Connective Tissue Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Leukope... ORPHA:809
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Scedosporiosis
Pneumonia, Bronchitis, Abnormal renal morphology, Pleural empyema, Pulmonary fibrosis, Pleuritis ORPHA:449280
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethr... ORPHA:2377
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
Braddock Syndrome
Pulmonary fibrosis, Unilateral renal agenesis ORPHA:52047
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure OMIM:602579
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Pulmonary fibrosis, Thrombocytopenia OMIM:224230
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi... OMIM:619281
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infection, Bronchiectasis, Subpleural i... ORPHA:79128
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom... OMIM:606003
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pulmonary fibrosis, Pure red cell aplasia OMIM:618165
Niemann-Pick Disease, Type C2
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Pulmonary fibrosis, Sea-blue histio... OMIM:607625
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Micropenis, Pulmonary fibrosis ORPHA:457240
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Pulmonary fibrosis OMIM:612852
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Pulmonary fibro... OMIM:613990
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtration rate, H... ORPHA:470
Polymyositis
Hepatomegaly, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Abnormal renal tubu... ORPHA:732
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Recurrent urinary tract infections, Renal insufficie... OMIM:619487
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, ... OMIM:618278
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Hepatosplenomega... OMIM:608233
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Nephr... ORPHA:330001
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... OMIM:200995
Hermansky-Pudlak Syndrome 4
Absent platelet dense granules, Pulmonary fibrosis OMIM:614073
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Leukopenia, Pulmonary fibrosis, Thrombocytosis, Lymphopenia, An... OMIM:615934
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hep... ORPHA:541423
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... ORPHA:79230
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... OMIM:300972
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension ORPHA:79319
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Microcytic anemia, Abnormal pulmonary interstitial morphology, Hep... OMIM:619013
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Abnormal ... ORPHA:77259
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep... ORPHA:264580
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr... OMIM:617093
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Desquamative interstitial pneumonitis, ... OMIM:615952
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan... OMIM:208500
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... ORPHA:101330
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Retroperitoneal fibrosis, Abnormal pulmonary interstitial morpholog... ORPHA:35687
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kid... OMIM:614091
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:263210
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hepatic fibrosis ORPHA:110
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Porta... OMIM:619377
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hepatomegaly, Bronchitis, Respiratory tract infection, Pleural thickenin... ORPHA:60025
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Antisynthetase Syndrome
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis ORPHA:81
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Renal tubular ... ORPHA:79240
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Oliguria, Pulmonary fibrosis ORPHA:220393
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi... ORPHA:486
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest... OMIM:610199
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o... ORPHA:333
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Abnormal pulmonary int... OMIM:230800
Sarcoidosis
Abnormal lung morphology, Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis,... ORPHA:797
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hepatocellular necrosis, Per... OMIM:201475
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Cholestasis, Hepatic fib... OMIM:615895
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... ORPHA:79127
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Tubulointerstitial fibrosis OMIM:232500
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Typhoid
Splenomegaly, Hepatomegaly, Abnormal pulmonary interstitial morphology ORPHA:99745
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Recurrent intrapulmonary hem... ORPHA:900
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ... ORPHA:84064
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Hypospadias, Recurrent pneumonia, Megacystis, Abnormal pulmonar... ORPHA:209905
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Leukocytosi... ORPHA:3260
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Howell-Jolly bodies, R... ORPHA:85443
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Systemic Sclerosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... ORPHA:90291
Donohue Syndrome
Long penis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis OMIM:246200
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma... ORPHA:247585
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Splenomegaly, Bronchiectasis, Hypercalciuria, Abnormal pulmonary inte... OMIM:181000
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proxima... OMIM:212065
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Pulmonary fibrosis OMIM:203300
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Enuresis ... ORPHA:420741
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Thrombocytopenia, Urethral stenosis,... OMIM:305000
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp... ORPHA:186
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Abnormality of the pancreas, Splenomeg... OMIM:222470
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary interstitial mor... OMIM:617050
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Renal salt... ORPHA:275761
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Hepatomegaly, Recurrent respiratory infections, Cholangitis, Pancreatic cys... OMIM:266920
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Acute Lung Injury
Acute pancreatitis, Abnormal pulmonary interstitial morphology, Pneumonia, Diffuse alveolar hemor... ORPHA:178320
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pulmonary interstitia... ORPHA:217563
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia ORPHA:1303
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pneumonia, Splenomegaly, Thrombocytopenia, Hepatitis... ORPHA:781
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Intermittent ... OMIM:612541
Overlap Myositis
Elevated hepatic transaminase, Abnormality of the kidney, Abnormal pulmonary interstitial morphol... ORPHA:206572
Gaucher Disease
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal pulm... ORPHA:355
Meckel Syndrome 14
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:619879
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... ORPHA:48818
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Pulmonary artery atresia... ORPHA:974
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Atelectasis, Leukocytosis, Bronchiectasis, Cholestasis, Abnormal pulmonary intersti... OMIM:620233
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Abnormal pulmonary inter... ORPHA:2072
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, He... ORPHA:85450
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Fusariosis
Brain abscess, Lung abscess, Abnormality of the kidney, Pneumonia, Abnormality of the spleen, Per... ORPHA:228119
Hermansky-Pudlak Syndrome
Renal insufficiency, Pulmonary fibrosis, Neutropenia ORPHA:79430
Chitayat Syndrome
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:617180
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Leukocytosis, Hypersensitivity pneumonitis, Hypereosinophilia, Pleural effusion ORPHA:2902
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Pulmonary fibrosis, Anemia OMIM:612199
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Abnormal pulmonary ... ORPHA:227990
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... OMIM:606367
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat... OMIM:207900
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Abnormal pulmonary ... ORPHA:227982
Cranioectodermal Dysplasia 1
Hepatomegaly, Recurrent respiratory infections, Malformation of the hepatic ductal plate, Renal m... OMIM:218330
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Recurrent pneumonia, Neutropenia, Bron... OMIM:300755
Gaucher Disease Type 3
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Proteinuria, Splenomegaly, Thromboc... ORPHA:77261
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Renal cyst OMIM:213300
Mednik Syndrome
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glom... ORPHA:289390
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dysplasia, Micropenis OMIM:263520
Reactive Arthritis
Recurrent urinary tract infections, Pulmonary fibrosis, Abnormal pleura morphology ORPHA:29207
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Acanthocytosis, Hepatic fibrosis, C... ORPHA:14
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Atelectasis, Renal hypoplasia, Periportal fibrosis, Pulmonary hypopla... OMIM:269860
Bronchial Neuroendocrine Tumor
Hepatomegaly, Hepatic failure, Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... OMIM:265120
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Abnormal pulmonary interstitial... ORPHA:221
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia OMIM:620326
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Heparan sulfate ex... OMIM:615273
Juvenile Dermatomyositis
Pulmonary fibrosis ORPHA:93672
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Micropenis, Hepatic fibrosis, Abnormality of the kidney OMIM:209900
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Abnormal lung lobati... ORPHA:79328
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly, Elevated circulating aspartate... OMIM:619534
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology ORPHA:206569
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Pancytopenia, Portal hypertens... OMIM:613658
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Bronchitis, Pneumonia, Hyperspleni... ORPHA:1304
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Kawasaki Disease
Proteinuria, Recurrent pharyngitis, Jaundice, Leukocytosis, Hepatitis, Sterile pyuria, Abnormal p... ORPHA:2331
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary inters... ORPHA:77293
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Asplen... ORPHA:564
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Chronic neutropenia, Nephrolithiasis, Stage 5 chronic kidney disease, ... ORPHA:79259
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho... OMIM:124000
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Recu... OMIM:607944
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Abnormal pulmonary i... ORPHA:50918
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti... OMIM:614748
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... ORPHA:99226
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern ORPHA:264675
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Urethro... OMIM:243800
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati... ORPHA:64
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Renal hypoplasia, Renal... ORPHA:93271
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on pulmonary H... OMIM:233450
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Gapo Syndrome
Hepatomegaly, Tubulointerstitial fibrosis OMIM:230740
Cryptococcosis
Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Peritonitis, Cirrhosis, Pleural ... ORPHA:1546
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Phimosis, Urinary bladder inflammation, Pneumothorax... ORPHA:99921
Pmm2-Cdg
Elevated hepatic transaminase, Proteinuria, Abnormal liver parenchyma morphology, Nephrotic syndr... ORPHA:79318
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050

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 Rbm7

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 Rbm7.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Rbm7em1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Rbm7em1(IMPC)Wtsi Exon Deletion Mice

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