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Gene: Rlim MGI:1342291

Gene Summary

Name:

ring finger protein, LIM domain interacting

Synonyms:

Rlim1, Rnf12, Ha1r

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal lymph node morphology	Rlim^{em1(IMPC)Rbrc}	HET	Early adult	0.00
abnormal heart morphology	Rlim^{em1(IMPC)Rbrc}	HET	Early adult	0.00
fusion of vertebral arches	Rlim^{em1(IMPC)Rbrc}	HEM	Early adult	3.45×10^-05
enlarged lymph nodes	Rlim^{em1(IMPC)Rbrc}	HET	Late adult	0.00
abnormal mean corpuscular volume	Rlim^{em1(IMPC)Rbrc}	HEM	Late adult	3.70×10^-07
abnormal mean corpuscular hemoglobin	Rlim^{em1(IMPC)Rbrc}	HEM	Late adult	1.11×10^-05
abnormal lymph node morphology	Rlim^{em1(IMPC)Rbrc}	HET	Late adult	0.00
abnormal thymus morphology	Rlim^{em1(IMPC)Rbrc}	HET	Early adult	0.00
enlarged heart	Rlim^{em1(IMPC)Rbrc}	HET	Early adult	0.00
enlarged thymus	Rlim^{em1(IMPC)Rbrc}	HET	Early adult	0.00
enlarged lymph nodes	Rlim^{em1(IMPC)Rbrc}	HET	Early adult	0.00

Download data as: TSV XLS

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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.

Gross Pathology and Tissue Collection

Images

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Rlim 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.

Human diseases associated with Rlim (1 diseases)
Human diseases predicted to be associated with Rlim (593 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tonne-Kalscheuer Syndrome		Decreased testicular size, Cryptorchidism, Abnormal heart morphology	OMIM:300978

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

Disease	Matching phenotypes	Source
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the...	ORPHA:2064
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte adenylate kinase activity, Hemolytic anemia	OMIM:612631
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ...	OMIM:610017
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Ethanolaminosis	Cardiomegaly	OMIM:227150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Spondylocostal Dysostosis 6, Autosomal Recessive	Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis	OMIM:616566
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Kerion Celsi	Lymphadenopathy	ORPHA:499
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur...	OMIM:618469
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Symphalangism Of Toes	Synostosis involving bones of the toes	OMIM:185600
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae	ORPHA:1436
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Acrodysplasia Scoliosis	Scoliosis, Vertebral segmentation defect, Spina bifida occulta	ORPHA:2956
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Spondylocostal Dysostosis 5	Butterfly vertebrae, Scoliosis, Hemivertebrae, Low back pain, Short neck, Vertebral fusion	OMIM:122600
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge	OMIM:309620
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu...	ORPHA:66637
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,...	OMIM:301083
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:206100
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:185000
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor...	ORPHA:98870
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Vertebral fusion, Vertebral segmentation defect	OMIM:618845
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Scoliosis, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion	OMIM:214300
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Congenital Toxoplasmosis	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Cardiomegaly	ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip...	OMIM:178110
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul...	OMIM:613673
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,...	OMIM:113000
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Keratoconus Posticus Circumscriptus	Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion	OMIM:244600
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, ...	OMIM:602450
Isolated Klippel-Feil Syndrome	Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Scoliosis, Short neck, Abno...	ORPHA:2345
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Sp...	OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	OMIM:613101
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormal lymph node morphology, Abnormality ...	ORPHA:543
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Beta-Thalassemia	Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia	ORPHA:848
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype...	OMIM:617021
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Developmental And Speech Delay Due To Sox5 Deficiency	Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion	ORPHA:313892
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Elbow contracture, Vertebral fusion	OMIM:606612
Spondylocostal Dysostosis 4, Autosomal Recessive	Abnormal odontoid process morphology, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral s...	OMIM:613686
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni...	OMIM:613011
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Infantile Sialic Acid Storage Disease	Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly	OMIM:269920
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ...	ORPHA:2916
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Lymphadenitis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Kbg Syndrome	Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal maturation, S...	ORPHA:2332
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Elbow d...	ORPHA:90650
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Vertebral fusion	OMIM:607155
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Kniest Dysplasia	Fused cervical vertebrae, Platyspondyly, Delayed epiphyseal ossification, Vertebral wedging, Arth...	ORPHA:485
Multiple Pterygium Syndrome, X-Linked	Multiple pterygia, Joint dislocation, Abnormal cervical curvature, Vertebral fusion, Flexion cont...	OMIM:312150
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Biconcave ve...	ORPHA:93315
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Griscelli Syndrome Type 2	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Iron deficiency anemia, Neutropenia i...	OMIM:603909
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hepatosplenomegal...	OMIM:615122
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Verheij Syndrome	Scoliosis, Hemivertebrae, Joint hypermobility, Short neck, Hip dislocation, Vertebral fusion	OMIM:615583
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi...	OMIM:256550
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Multiple Pterygium Syndrome, Lethal Type	Multiple pterygia, Joint dislocation, Abnormal cervical curvature, Vertebral fusion, Flexion cont...	OMIM:253290
Ring Chromosome 21 Syndrome	Scoliosis, Thoracic hemivertebrae, Fused thoracic vertebrae	ORPHA:1445
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ovarian neoplasm,...	ORPHA:83469
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Wildervanck Syndrome	Short neck, Fused cervical vertebrae	ORPHA:3456
Sickle Cell Disease	Hepatomegaly, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells, Splenomegaly, Cardi...	OMIM:603903
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic...	OMIM:614034
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Lymphocytosis, Ab...	OMIM:308240
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Cervical C2/C3 vertebral fusion	OMIM:118100
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ...	OMIM:203500
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, ...	OMIM:301078
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnormal testis morp...	ORPHA:54251
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplas...	OMIM:616549
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Poikilocytosis...	ORPHA:824
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells...	ORPHA:276
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Short neck, Abnormality of the cer...	ORPHA:915
Tularemia	Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr...	ORPHA:3392
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hemophagocytosis, Decr...	OMIM:619802
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Frontometaphyseal Dysplasia 1	Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica...	OMIM:305620
Hemochromatosis, Type 1	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly, Testicular atrophy	OMIM:235200
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia	ORPHA:2169
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Scoliosis, Hyperlordosis, Vertebral segmentation defe...	OMIM:272460
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Medullary Thyroid Carcinoma	Pheochromocytoma, Nodular goiter, Lymphadenopathy, Primary hyperparathyroidism	ORPHA:1332
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis	ORPHA:2522
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Roifman Syndrome	Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphope...	OMIM:618935
Fibrodysplasia Ossificans Progressiva	Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in ligament tissue, Ectopi...	OMIM:135100
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio...	OMIM:618000
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, He...	ORPHA:98850
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Castleman Disease	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Restrictive cardiomyopathy, Thrombocytopeni...	ORPHA:160
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Griscelli Syndrome	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocyto...	ORPHA:381
Scrub Typhus	Myocarditis, Lymphadenopathy, Splenomegaly	ORPHA:83317
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocyt...	ORPHA:457077
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Micr...	OMIM:257200
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Larsen Syndrome	Beaking of vertebral bodies, Multiple carpal ossification centers, Spondylolysis, Spina bifida oc...	OMIM:150250
Rhabdoid Tumor	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Beta-Thalassemia Intermedia	Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S...	ORPHA:231222
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Scoliosis, Hemivertebrae, Block vertebrae, Short neck, Supernumerary vertebrae, Vertebral fusion	OMIM:271520
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopen...	OMIM:619644
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Boutonneuse Fever	Thrombocytopenia, Cervical lymphadenopathy, Leukopenia, Lymphadenopathy	ORPHA:83313
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe...	ORPHA:829
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Abnor...	ORPHA:3027
Chromosome 8Q22.1 Duplication Syndrome	Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J...	OMIM:151200
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Nephroblastoma	Lymphadenopathy	ORPHA:654
Lateral Meningocele Syndrome	Scoliosis, Wormian bones, Kyphosis, Biconcave vertebral bodies, Sclerosis of skull base, Joint hy...	OMIM:130720
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Lamb-Shaffer Syndrome	Scoliosis, Thoracic kyphosis, Fused cervical vertebrae	ORPHA:530983
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis	OMIM:212140
Koolen-De Vries Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis, Joint hypermobility, Hip dislocation, Vertebr...	ORPHA:96169
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega...	OMIM:612783
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy	OMIM:614702
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Multiple Pterygium Syndrome, Escobar Variant	Dislocated radial head, Kyphosis, Hip dislocation, Axillary pterygium, Pterygium, Scoliosis, Neck...	OMIM:265000
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Pancreatic ...	OMIM:602782
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen	ORPHA:79456
Pancreatoblastoma	Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly	ORPHA:36412
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Abnormal natural killer cell count, Thro...	ORPHA:158061
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Lymphopenia...	ORPHA:2686
Legionnaires Disease	Myocarditis, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Lymphopeni...	ORPHA:549
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly	OMIM:617333
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o...	ORPHA:231226
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos...	ORPHA:1724
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Cryptorchidism	ORPHA:99812
Beta-Thalassemia Major	Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231214
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Scoliosis, Kyphosis, Prominent metopic ridge, Vertebral fusion,...	OMIM:610443
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cardiomyopathy, Lymphadenitis, Leukocytosis, Splenomegaly,...	OMIM:615895
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Normochromic anemia, Acute myeloid leukemia, Ch...	ORPHA:98849
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100080
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the...	ORPHA:3109
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Anemia, Abnormal lymph node morphology, Primary testicular failure, Lymphadenopathy...	ORPHA:85450
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Kaposi Sarcoma	Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Fused cervical vertebrae, Osteolysis, Joint swelling, Osteomyelitis	OMIM:612852
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:233710
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil...	ORPHA:31150
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia	OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Leukopenia, Hepatosplenome...	OMIM:603553
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Cor pulmonale, Neutropenia	OMIM:300755
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal heart valve morphology, Pericarditis...	ORPHA:781
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia, Myocarditis, Lymphadenopathy	ORPHA:139402
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count...	ORPHA:79124
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly, Testicular atrophy	ORPHA:465508
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal ce...	OMIM:308230
Mogs-Cdg	Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A...	ORPHA:79330
Chediak-Higashi Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutr...	OMIM:214500
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:540
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:233690
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Lymphocytosis...	ORPHA:50918
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy	ORPHA:343
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Vertebral fusion	ORPHA:377
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Sacral dimple, Hyperextensibility of the finger joints, Scoliosis, H...	OMIM:213980
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Increased bone mineral density, Scoliosis, Synostosis of carpal bones, Camptod...	ORPHA:90652
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly	ORPHA:42
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Scoliosis, Osteoporosis, Kyphosis, Accelerated skeletal maturation	OMIM:617190
Robinow Syndrome, Autosomal Recessive 1	Hypoplastic sacrum, Sacral dimple, Dislocated radial head, Scoliosis, Hemivertebrae, Proximal/mid...	OMIM:268310
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Lymphadenopathy, Increased proportion of CD4-positive T cells	OMIM:617099
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Hepatomegaly, Chronic noninfectious lymphadenopathy, El...	ORPHA:97287
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P...	OMIM:618278
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Leukocytosis, Right atri...	OMIM:620233
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Pericardial effusion, Polycythemia, Splenomegaly, I...	ORPHA:2905
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Vertebral wedging, Scoliosis, Hemivertebrae, Irregular ossification of hand bones...	OMIM:109400
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100082
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Pericardial effusion, Thrombocytopenia, Leukopenia, Microangiopathi...	ORPHA:93552
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Fused cervical vertebrae, Spina bifida occul...	ORPHA:1826
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Patellar dislocation, Gen...	ORPHA:3320
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis	OMIM:617796
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Combined Oxidative Phosphorylation Deficiency 33	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta	OMIM:619227
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:201475
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Cirrhotic Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca...	ORPHA:57777
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Fanconi Anemia, Complementation Group I	Short neck, Fused cervical vertebrae	OMIM:609053
Kbg Syndrome	Thoracic kyphosis, Delayed skeletal maturation, Short neck, Vertebral arch anomaly, Vertebral fusion	OMIM:148050
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Orchitis, ...	ORPHA:2035
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Anteriorly plac...	ORPHA:268882
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Microphthalmia, Syndromic 3	Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Vertebral fusion	OMIM:206900
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia	ORPHA:1572
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Bone marrow hypocellularity, L...	OMIM:615688
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia	ORPHA:33226
Lead Poisoning	Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia	ORPHA:330015
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Fused cervical vertebrae, Flat acetabular roof	OMIM:617159
Carney Triad	Anemia, Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemoly...	ORPHA:83471
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Myhre Syndrome	Enlarged vertebral pedicles, Limitation of joint mobility, Camptodactyly, Joint stiffness, Platys...	OMIM:139210
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:306400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Pericarditis, Orchitis, Splenomegaly, Abnormal myocardium morphology	ORPHA:32960
Atelosteogenesis, Type I	Thoracic platyspondyly, Fused cervical vertebrae, Vertebral hypoplasia, Coronal cleft vertebrae, ...	OMIM:108720
Duane Retraction Syndrome	Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Short neck, Abnormal ...	ORPHA:233
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly	OMIM:255120
Familial Pancreatic Carcinoma	Ovarian carcinoma, Hepatosplenomegaly, Lymphadenopathy, Pancreatic adenocarcinoma	ORPHA:1333
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Neutropenia in presenc...	ORPHA:3261
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Ventricular septal defect,...	OMIM:619418
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Chédiak-Higashi Syndrome	Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Abnormal natural killer cell morphology,...	ORPHA:167
Fucosidosis	Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly	OMIM:230000
Congenital Syphilis	Myocarditis, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hemato...	ORPHA:499009
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Thakker-Donnai Syndrome	Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion	ORPHA:1780
Fucosidosis	Cardiomegaly, Hepatomegaly	ORPHA:349
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary v...	ORPHA:100075
Graft Versus Host Disease	Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis	ORPHA:39812
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Recurrent tonsillitis, Abnormal mitral valve morp...	ORPHA:581
H Syndrome	Enlarged kidney, Lymphadenopathy, Decreased testicular size, Hepatosplenomegaly, Histiocytosis, M...	ORPHA:168569
Faciodigitogenital Syndrome, Autosomal Recessive	Hyperextensible hand joints, Camptodactyly, Vertebral fusion	OMIM:227330
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Shoulder subluxation, Fused cervical vertebrae, Thoracic kyphosis, Hypermobility of interphalange...	ORPHA:508498
Apert Syndrome	Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Delayed cra...	OMIM:101200
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:301040
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Farber Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:333
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Simpson-Golabi-Behmel Syndrome	Scoliosis, Vertebral segmentation defect, Congenital hip dislocation, Camptodactyly of finger, Ac...	ORPHA:373
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy	OMIM:619259
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Increased T cell c...	OMIM:620376
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Enlarged kidney	OMIM:608836
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Vertebral fusion	ORPHA:959
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:635
Brucellosis	Myocarditis, Abnormal aortic valve morphology, Anemia, Lymphadenopathy, Hepatomegaly, Leukocytosi...	ORPHA:1304
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Cryptorchidism, Hepatomegaly	OMIM:618143
Duane-Radial Ray Syndrome	Shoulder dislocation, Scoliosis, Fused cervical vertebrae, Spina bifida occulta	OMIM:607323
Ileal Neuroendocrine Tumor	Pulmonic stenosis, Tricuspid stenosis, Iron deficiency anemia, Lymphadenopathy	ORPHA:100078
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect, Hepatomegaly	OMIM:614921
Aicardi Syndrome	Butterfly vertebrae, Scoliosis, Hemivertebrae, Block vertebrae	OMIM:304050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Iron deficiency anemia, Reduced proportion of CD4-n...	ORPHA:37042
Hennekam Syndrome	Lymphadenopathy, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Ly...	ORPHA:2136
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:308552
Multiple Myeloma	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:29073
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Chyloperica...	ORPHA:538
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Atrioventricular canal defect, Hepatomegaly, T...	OMIM:619573
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Aicardi Syndrome	Butterfly vertebrae, Scoliosis, Block vertebrae	ORPHA:50
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormal pancreas ...	ORPHA:449432
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:252500
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Scoliosis, K...	OMIM:194190
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology	ORPHA:228308
Frontometaphyseal Dysplasia 2	Fused cervical vertebrae, Dislocated radial head, Scoliosis, Camptodactyly, Congenital hip disloc...	OMIM:617137
Apert Syndrome	Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion	ORPHA:87
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Idiopathic Hypereosinophilic Syndrome	Anemia, Generalized lymphadenopathy, Myocardial eosinophilic infiltration, Myeloproliferative dis...	ORPHA:3260
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Tricuspid stenosis, Chronic n...	ORPHA:100079
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Patent foramen ovale, Cryptorchidism, Splenic cyst	OMIM:620371
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal pulmonary valve morphology	ORPHA:667
Familial Mediterranean Fever	Lymphadenopathy, Leukocytosis, Pericarditis, Orchitis, Splenomegaly	ORPHA:342
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Robinow Syndrome	Kyphoscoliosis, Scoliosis, Hemivertebrae, Fused thoracic vertebrae	ORPHA:97360
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Hepato...	OMIM:181000
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hypertrophic cardiomyopathy, Pericardial effusion, Thrombocyt...	OMIM:615846
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Fusion of middle ear ossicles, Delayed sk...	OMIM:157800
Chops Syndrome	Cervical C2/C3 vertebral fusion, Tracheomalacia	OMIM:616368
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re...	ORPHA:75565
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Iron deficien...	OMIM:300855
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Lymphadenopathy, Parotitis, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcyti...	OMIM:256040
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Cryptorchidism, Ventricular septal defect, Hepatomegaly	ORPHA:96191
Behçet Disease	Lymphadenopathy, Pericarditis, Orchitis, Splenomegaly, Abnormal myocardium morphology, Endocarditis	ORPHA:117
Abetalipoproteinemia	Hepatomegaly, Anemia, Reticulocytosis, Cardiomegaly, Acanthocytosis	ORPHA:14
Coccidioidomycosis	Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Abnormality of the spleen, Eosinophilia	ORPHA:228123
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Bohring-Opitz Syndrome	Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology	ORPHA:97297
Thrombocytopenia-Absent Radius Syndrome	Carpal bone hypoplasia, Fused cervical vertebrae, Patellar aplasia, Patellar dislocation, Genu va...	OMIM:274000
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100086
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly, Cryptorchidism	OMIM:130650
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, He...	ORPHA:51
Histiocytoid Cardiomyopathy	Cardiomegaly, Polycystic ovaries, Ventricular septal defect, Hepatomegaly	ORPHA:137675
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Anemia, Lymphocytosis, Patent foramen ovale, Pancreatic hy...	OMIM:619991
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Visceromegaly, Hypertrophic cardiomy...	ORPHA:116
Kawasaki Disease	Myocarditis, Abnormal heart valve morphology, Leukocytosis, Double outlet right ventricle with su...	ORPHA:2331
Igg4-Related Kidney Disease	Enlarged kidney, Abnormality of the anterior pituitary, Lymphadenopathy, Sialadenitis, Lymphadeni...	ORPHA:449395
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Eisenmenger Syndrome	Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:97214
Crimean-Congo Hemorrhagic Fever	Myocarditis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Parotitis, Leukocytosis, Pericardial ef...	ORPHA:99827
Sarcoidosis	Enlarged lacrimal glands, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, ...	ORPHA:797
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope...	OMIM:619381
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Malakoplakia	Orchitis, Follicular hyperplasia	ORPHA:556
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Tracheobronchomalacia, Camptodactyly, Cervical C5/C6 vertebrae fusion, Short neck,...	OMIM:613458
Marburg Hemorrhagic Fever	Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticuloc...	ORPHA:99826
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Testicular neoplasm, Neoplasm of the thymus, Enlarged polycyst...	ORPHA:744
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Splenomegaly	ORPHA:90340
Glycogen Storage Disease Due To Acid Maltase Deficiency	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:365
Alkaptonuria	Hemolytic anemia, Methemoglobinemia	ORPHA:56
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Tracheomalacia, ...	ORPHA:444077
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Parotitis, Decreased proportion of CD4-p...	ORPHA:289390
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the anterior pituitary, Lymphadenopathy, Sialadenitis, O...	ORPHA:449563
Leptospirosis	Pericarditis, Hepatomegaly, Thrombocytopenia, Lymphadenopathy	ORPHA:509
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Fused cervical vertebrae, Cleft vertebral arch, Contracture of the dist...	ORPHA:83617
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Yunis-Varon Syndrome	Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Cardiomegaly, Atrial septal defec...	ORPHA:3472
Williams Syndrome	Abnormal endocardium morphology, Atrial septal defect, Cardiomegaly, Cholelithiasis, Ventricular ...	ORPHA:904
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Pheochromocytoma, Lymphopenia, Neoplas...	ORPHA:99889
African Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Abnormal prolactin level, Pericarditis, Hepatosplenom...	ORPHA:3385
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal...	ORPHA:51608
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion	OMIM:211380
Craniofacial Microsomia 1	Genu valgum, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Block vertebrae	OMIM:164210
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Holt-Oram Syndrome	Limited elbow extension, Abnormal carpal morphology, Sacral dimple, Cervical C2/C3 vertebral fusi...	OMIM:142900
Tonne-Kalscheuer Syndrome	Decreased testicular size, Cryptorchidism, Abnormal heart morphology	OMIM:300978

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 Rlim

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 Rlim.

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

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MGI Allele	Allele Type	Produced
Rlim^{em1(IMPC)Rbrc}	Indel	Mice
Rlim^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rlim^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Rlim^{em2(IMPC)Rbrc}	Indel	Mice
Rlim^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rlim^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rlim MGI:1342291

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

X-ray

X-ray

Eye Morphology

Human diseases caused by Rlim mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data