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Gene: Cndp2 MGI:1913304

Gene Summary

Name:

CNDP dipeptidase 2

Synonyms:

0610010E05Rik, Pep1, Dip-2, Cn2, Pep-1

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 heart morphology	Cndp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Cndp2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Cndp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal pancreas morphology	Cndp2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Cndp2^em1(IMPC)Mbp	HOM	Late adult	0.00
anophthalmia	Cndp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Cndp2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased startle reflex	Cndp2^em1(IMPC)Mbp	HOM	Early adult	7.39×10^-05
enlarged lymph nodes	Cndp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Cndp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Cndp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Cndp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Cndp2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged seminal vesicle	Cndp2^em1(IMPC)Mbp	HOM	Late adult	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

103 Images

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X-ray

XRay Images Whole Body Lateral Orientation

37 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Cndp2 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 Cndp2 (0 diseases)
Human diseases predicted to be associated with Cndp2 (523 diseases)

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

The table below shows human diseases predicted to be associated to Cndp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Reticuloendotheliosis, X-Linked	Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Ethanolaminosis	Cardiomegaly	OMIM:227150
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Kerion Celsi	Lymphadenopathy	ORPHA:499
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent tonsillitis	OMIM:618852
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Mast Cell Sarcoma	Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Kimura Disease	Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Congenital Toxoplasmosis	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hepatomegaly,...	ORPHA:858
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphadenopathy, Hepatitis, Splenomegaly	ORPHA:444463
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia	OMIM:613885
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Elevated circulating hepatic transaminase concentr...	ORPHA:54251
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E...	OMIM:208540
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Epididymitis	OMIM:608106
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Alpha-Heavy Chain Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:100025
Anencephaly 2	Anophthalmia	OMIM:619452
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism	ORPHA:2849
Mu-Heavy Chain Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:100024
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Ovarian neoplasm, Neoplasm of the pancreas, Lymphadenopathy, Abnormal peritoneum mo...	ORPHA:83469
Hemophagocytic Lymphohistiocytosis, Familial, 4	Lymphadenopathy, Jaundice, Splenomegaly, Hepatomegaly	OMIM:603552
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:77298
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Trisomy 13	Microphthalmia, Anophthalmia, Displacement of the urethral meatus, Aplasia/Hypoplasia of the iris...	ORPHA:3378
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly	ORPHA:615
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Splenomegaly	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent ...	OMIM:602450
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Immunodeficiency 76	Lymphadenopathy, Splenomegaly	OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating alanine aminotra...	OMIM:615559
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:240500
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:269920
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612840
Cerebrooculonasal Syndrome	Anophthalmia, Hypoplasia of penis	ORPHA:66625
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Immunodeficiency 54	Lymphadenopathy, Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess	OMIM:609981
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,...	OMIM:608800
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath...	OMIM:212140
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:300853
Classic Mycosis Fungoides	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:2584
Trisomy 1Q	Small scrotum, Ambiguous genitalia, Cryptorchidism, Anophthalmia	ORPHA:261344
Schnitzler Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:37748
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Cockayne Syndrome Type 2	Male hypogonadism, Anophthalmia, Cryptorchidism	ORPHA:90322
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Hypoplastic spl...	OMIM:601186
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:618495
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatomegaly, Splenomegaly, Pericarditis	ORPHA:85414
Immunodeficiency 64 With Lymphoproliferation	Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade...	OMIM:618534
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:56425
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Indolent Systemic Mastocytosis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98848
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Walker-Warburg Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis	ORPHA:899
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Immunodeficiency 27A	Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly	OMIM:209950
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Caspase 8 Deficiency	Lymphadenopathy, Splenomegaly	OMIM:607271
Campomelia, Cumming Type	Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Meckel Syndrome, Type 7	Situs inversus totalis, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferat...	OMIM:267010
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple...	OMIM:614034
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Neuraminidase Deficiency	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:256550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619375
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Ventricular septal defect	OMIM:616651
Griscelli Syndrome Type 2	Lymphadenopathy, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79477
Immunodeficiency 7	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:615387
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Hepatomegaly, Splenomegaly	OMIM:614470
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Splenomegaly	OMIM:620282
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly	OMIM:611762
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta...	ORPHA:465508
Meckel Syndrome	Microphthalmia, Accessory spleen, Anophthalmia, Pancreatic fibrosis, Male pseudohermaphroditism, ...	ORPHA:564
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:607594
Immunodeficiency 52	Lymphadenopathy, Splenomegaly	OMIM:617514
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic...	OMIM:601346
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly, Cardiomegaly	OMIM:603903
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Lymphoproliferative Syndrome 2	Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Cockayne Syndrome Type 1	Male hypogonadism, Tremor, Anophthalmia, Cryptorchidism	ORPHA:90321
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Leishmaniasis	Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:507
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome...	OMIM:201475
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Niemann-Pick Disease, Type A	Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Prolo...	OMIM:257200
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, Splenomegaly	OMIM:150550
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, ...	ORPHA:549
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Proteasome-Associated Autoinflammatory Syndrome 4	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatomegaly, Primary testicular failure, Lymphadenopathy, Abnormal lym...	ORPHA:85450
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Panhypopituitarism, ...	ORPHA:2162
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:3412
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatitis	ORPHA:381
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Jaundice, Lymph node hypoplasia, Hepatomegaly	ORPHA:276
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	ORPHA:99931
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3226
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Hepatic failure	OMIM:308240
Rhabdoid Tumor	Neoplasm of the liver, Lymphadenopathy	ORPHA:69077
Sézary Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3162
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:255120
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Diffuse Cutaneous Mastocytosis	Abnormality of the liver, Lymphadenopathy, Hepatomegaly, Abnormality of the spleen	ORPHA:79456
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi...	OMIM:615710
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestas...	OMIM:615895
Annular Pancreas	Annular pancreas	ORPHA:675
Pancreas, Annular	Annular pancreas	OMIM:167750
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hepatomegaly, Splenomegaly, Follicular hyperplasia	OMIM:601859
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Long-Olsen-Distelmaier Syndrome	Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva...	OMIM:620609
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Cryptorchidism, Aniridia, Anophthalmia	ORPHA:1101
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hepatospl...	OMIM:619644
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopat...	ORPHA:829
Lymphoproliferative Syndrome 1	Pericardial effusion, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:613011
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis	OMIM:618886
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Scrub Typhus	Myocarditis, Lymphadenopathy, Splenomegaly	ORPHA:83317
Primary Myelofibrosis	Hepatomegaly, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom...	ORPHA:103918
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification	OMIM:167800
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy	OMIM:607115
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly	ORPHA:36412
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hy...	OMIM:603909
Q Fever	Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopat...	ORPHA:781
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy	OMIM:614702
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Rectovaginal fistula, Anophthalmia, Perineal fistula, Abnormality of the spleen	ORPHA:2538
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlargement, Left ventri...	ORPHA:57777
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Lymphadenopathy, Cryptorchidism	ORPHA:99812
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransf...	ORPHA:158061
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Lymphadenopathy, Accessory spleen, Microvesic...	OMIM:619418
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia	OMIM:200995
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Splenomegal...	OMIM:308230
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve aplasia, Small scrotum, Cryptorchidism	ORPHA:264200
Agammaglobulinemia, X-Linked	Prostatitis, Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, Epididymitis...	OMIM:300755
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Generalized l...	ORPHA:160
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Left ventricular hypertrophy, Card...	ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Left ventr...	OMIM:617713
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:911
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos...	ORPHA:85451
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s...	ORPHA:2035
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology...	ORPHA:2556
Felty Syndrome	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, Splenomegaly	ORPHA:47612
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Vag...	OMIM:219000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:616100
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Omenn Syndrome	Lymphadenopathy, Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:603554
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Boutonneuse Fever	Cervical lymphadenopathy, Elevated circulating hepatic transaminase concentration, Lymphadenopathy	ORPHA:83313
Feingold Syndrome	Annular pancreas, Abnormality of the spleen	ORPHA:1305
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:301078
Gamma-Heavy Chain Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:100026
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Omenn Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:39041
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Lymphadenopathy, Ele...	ORPHA:540
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micropenis	OMIM:616897
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Acute hepa...	ORPHA:139402
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Kaposiform Lymphangiomatosis	Enlarged kidney, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnormal lympha...	ORPHA:464329
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Tafro Syndrome	Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	ORPHA:457077
Aggressive Systemic Mastocytosis	Decreased liver function, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly, Hypersplenism	ORPHA:98850
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Hypoplastic male external genitalia, Anophthalmia	OMIM:605627
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:169090
Immunodeficiency 10	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:612783
Alveolar Echinococcosis	Decreased liver function, Jaundice, Liver abscess, Cholangitis, Abnormal spleen morphology, Bilia...	ORPHA:284
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Splenomegaly	ORPHA:809
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ...	ORPHA:100086
Cinca Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:1451
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect	OMIM:615503
Purine Nucleoside Phosphorylase Deficiency	Tremor, Lymph node hypoplasia, Splenomegaly	OMIM:613179
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy, Peritonitis	ORPHA:2686
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Elevated...	ORPHA:699
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu...	ORPHA:64744
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi...	OMIM:608836
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Right atria...	OMIM:620233
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly	OMIM:233710
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:615935
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Congenital hydrocele, Parotitis, Cholestasis, Elevated circulating alanin...	OMIM:620376
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ...	ORPHA:100093
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Pericardial effusion, Splenomegaly, Hypogonadism, I...	ORPHA:2905
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Tremor, Exaggerated startle response	OMIM:620327
Fraser Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor...	ORPHA:2052
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly	OMIM:233690
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Bone Marrow Failure Syndrome 3	Hyperechogenic pancreas, Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Cryptorc...	OMIM:617052
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp...	OMIM:608643
Immunodeficiency 97 With Autoinflammation	Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:619802
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Parachute mitral valve,...	OMIM:265380
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Hepatoblasto...	OMIM:130650
Charge Syndrome	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Labial hypoplasia, Bifid scrotum, Abnorma...	ORPHA:138
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:617591
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic hepatic ...	ORPHA:79124
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatic failure	OMIM:608013
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Exocrine pancreatic insufficiency, Shawl scrotum, Hepatic fibrosis, Pancreatic fibr...	OMIM:616263
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr...	ORPHA:116
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	OMIM:603553
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:436159
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia	OMIM:260370
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Hypoparathyro...	OMIM:214800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia o...	ORPHA:93111
Bohring-Opitz Syndrome	Ventricular septal defect, Atrial septal defect, Hyperechogenic pancreas, Supernumerary nipple	OMIM:605039
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Hypospadias, Pancreatic hypoplasia, Bico...	OMIM:137920
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Elevated circulating ...	ORPHA:50918
Aceruloplasminemia	Elevated hepatic iron concentration, Abnormal pancreas morphology	ORPHA:48818
Hemophagocytic Lymphohistiocytosis, Familial, 1	Lymphadenopathy, Jaundice, Splenomegaly, Hepatomegaly	OMIM:267700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification...	ORPHA:228308
Mevalonic Aciduria	Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopath...	OMIM:610377
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Accessory spleen, Tricuspid stenosis, Asplenia, Ventricular ...	OMIM:164280
Fanconi Anemia, Complementation Group D2	Annular pancreas, Hypergonadotropic hypogonadism, Bone marrow hypocellularity, Abnormal heart mor...	OMIM:227646
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Common Variable Immunodeficiency	Abnormality of the liver, Lymphadenopathy, Elevated circulating hepatic transaminase concentratio...	ORPHA:1572
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Acute hepatit...	ORPHA:39812
Nephronophthisis 13	Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts	OMIM:614377
Jacobsen Syndrome	Annular pancreas, Hypospadias, Labial hypoplasia, Ventricular septal defect, Clitoral hypoplasia,...	OMIM:147791
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:308552
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Biliary hyperpl...	OMIM:619991
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Hepatic fibrosis, Ambiguous genitalia, Atrial septal defect, Pancreati...	OMIM:263520
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Septate vagina, Cryptorchidism	OMIM:300166
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi...	OMIM:208500
H Syndrome	Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular size, Hepatosplenomegaly, Hyp...	ORPHA:168569
Shwachman-Diamond Syndrome 2	Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly	OMIM:617941
Farber Disease	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Intrahepatic cholestasi...	ORPHA:333
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Lymphadenopathy	OMIM:304790
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplas...	OMIM:305600
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Abnormal myocardium morphology	ORPHA:32960
Trisomy 8P	Annular pancreas, Abnormal left ventricle morphology, Dysplastic aortic valve, Tetralogy of Fallo...	ORPHA:264450
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Acute Interstitial Pneumonia	Pericardial effusion, Lymphadenopathy	ORPHA:79126
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Senior-Loken Syndrome 8	Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts	OMIM:616307
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Fryns Syndrome	Hypospadias, Ventricular septal defect, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tiss...	OMIM:229850
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100075
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, External genital hypoplasia, Anophthalmia	ORPHA:141099
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Tricuspid stenosis, Pul...	ORPHA:100078
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Tangier Disease	Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsils, Hepat...	ORPHA:31150
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphadenopathy	ORPHA:293173
1P36 Deletion Syndrome	Annular pancreas, Abnormal female external genitalia morphology, Hypospadias, Hypoplasia of penis...	ORPHA:1606
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly	OMIM:614700
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy, Hepatocellular necrosis,...	OMIM:618278
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis	OMIM:618986
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Annular pancreas	OMIM:618162
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Portal hypertension, Bi...	ORPHA:731
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ...	ORPHA:228123
Chediak-Higashi Syndrome	Lymphadenopathy, Tremor, Splenomegaly, Macular hypoplasia	OMIM:214500
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly	OMIM:306400
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Pericarditis, Acute hepatic failure, Orchitis, Splenomegaly, Perit...	ORPHA:342
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Brucellosis	Myocarditis, Liver abscess, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morphology, Peri...	ORPHA:1304
Congenital Syphilis	Myocarditis, Pancreatitis, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomegaly	ORPHA:499009
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia, Exaggerated startle response	OMIM:617864
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, True anophthalmia	ORPHA:1106
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macronodular cirrhosis, Ex...	OMIM:557000
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Ectopic thymus tissue, Cryptorchidism, Supernumerary n...	OMIM:113620
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Hyper-Igd Syndrome	Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Abnormal mitral valve morp...	ORPHA:581
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Bohring-Opitz Syndrome	Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology	ORPHA:97297
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly, Cr...	OMIM:620371
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
Fucosidosis	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:230000
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Prostatitis, Pancreatitis, Lymphadenopathy, Sclerosing...	ORPHA:449395
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Cherubism	Marcus Gunn pupil, Submandibular lymph node enlargement	OMIM:118400
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Female hypogonadism, Small scrotum, Crypt...	OMIM:607932
Waldenström Macroglobulinemia	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:33226
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Pituitary growth hormone cell adenoma, Polycystic liver disease, Mitral valve pr...	ORPHA:730
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Portal hy...	OMIM:615688
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Jaundice, Hepatomegaly, Atrioventricular canal defect, Cholestasis, Elevate...	OMIM:619573
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Distal Deletion 12Q	Annular pancreas, Biliary atresia, Patent foramen ovale, Unilateral cryptorchidism, Pituitary ade...	ORPHA:96149
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Jacobsen Syndrome	Annular pancreas, Ventricular septal defect, Aortic valve stenosis, Bone marrow hypocellularity, ...	ORPHA:2308
Atelosteogenesis Type I	Abnormal pancreatic duct morphology	ORPHA:1190
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ovarian neoplasm, Adrenoco...	ORPHA:100079
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Lymphadenopathy	ORPHA:93552
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias	OMIM:620306
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
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Intellectual Developmental Disorder, X-Linked 112	Hypospadias, Abnormal heart morphology, Bicuspid aortic valve, Ambiguous genitalia, Cryptorchidis...	OMIM:301111
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
17Q12 Microdeletion Syndrome	Shawl scrotum, Cryptorchidism, Elevated circulating hepatic transaminase concentration, Pancreati...	ORPHA:261265
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Patent foramen ovale, Cryptorchidism, Ventricular septal defect	OMIM:616975
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomegaly, H...	ORPHA:14
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98849
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Cholangitis, Portal fibrosis, Elevated circulating hepatic transaminase concentrati...	ORPHA:3260
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epid...	OMIM:193300
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:252500
Tay-Sachs Disease	Tremor, Exaggerated startle response, Precocious puberty, Dystonia, Laryngeal dystonia	ORPHA:845
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Jaundice, Macrovesicular hepat...	OMIM:300855
T-Cell Immunodeficiency With Thymic Aplasia	Atypical or prolonged hepatitis, Lymphadenopathy, Aplasia of the thymus	ORPHA:83471
Carney Triad	Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Behçet Disease	Pancreatitis, Lymphadenopathy, Pericarditis, Orchitis, Splenomegaly, Abnormal myocardium morpholo...	ORPHA:117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Exaggerated startle response	OMIM:253800
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Lymphangioleiomyomatosis	Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Pulmonary lymphangiomyoma...	ORPHA:538
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Sialadenitis, ...	ORPHA:449563
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Immunodeficiency 31C	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:614162
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response	ORPHA:79255
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis...	OMIM:256040
Histiocytoid Cardiomyopathy	Cardiomegaly, Polycystic ovaries, Hepatomegaly, Ventricular septal defect	ORPHA:137675
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Lymp...	ORPHA:167
Hennekam Syndrome	Lymphadenopathy, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia	ORPHA:2136
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Crimean-Congo Hemorrhagic Fever	Myocarditis, Hepatomegaly, Jaundice, Lymphadenopathy, Parotitis, Acute pancreatitis, Pericardial ...	ORPHA:99827
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Tremor, Exaggerated startle response	OMIM:615574
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly	ORPHA:37042
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphaden...	OMIM:181000
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Lymphadenopathy, Hepatocellular carcinoma, Chronic noninfectious lymphadenopathy, B...	ORPHA:3261
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Prolonged n...	ORPHA:51
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism	OMIM:268400
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
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormal pulmonary valve morphology	ORPHA:667
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, C...	ORPHA:892
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Multiple Myeloma	Lymphadenopathy, Splenomegaly	ORPHA:29073
Sarcoidosis	Decreased liver function, Enlarged lacrimal glands, Abnormal liver parenchyma morphology, Hepatom...	ORPHA:797
Malakoplakia	Follicular hyperplasia, Prostate neoplasm, Orchitis	ORPHA:556
Kawasaki Disease	Myocarditis, Jaundice, Abnormal heart valve morphology, Double outlet right ventricle with subpul...	ORPHA:2331
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Schinzel-Giedion Syndrome	Annular pancreas, Hypospadias, Abnormal heart morphology, Hepatoblastoma, Streak ovary, Micropenis	ORPHA:798
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:365
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Neuroblastoma	Lymphadenopathy	ORPHA:635
Blau Syndrome	Abnormal salivary gland morphology, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormality of t...	ORPHA:90340
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Pericarditis, Elevated serum transaminases during infect...	ORPHA:509
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Pheochromocytoma, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Par...	ORPHA:653
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot...	ORPHA:3472
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Marburg Hemorrhagic Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Pancreatitis,...	ORPHA:99826
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Exaggerated startle response	OMIM:620423
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Microphthalmia, Syndromic 1	Microphthalmia, Cryptorchidism, Hypospadias, Anophthalmia	OMIM:309800
Primary Sjögren Syndrome	Vaginal dryness, Lymphadenopathy, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Chronic...	ORPHA:289390
Williams Syndrome	Abnormal endocardium morphology, Atrial septal defect, Cardiomegaly, Cholelithiasis, Hypoplasia o...	ORPHA:904
Immunodeficiency 82 With Systemic Inflammation	Lymphadenopathy, Anoperineal fistula, Splenomegaly, Hepatitis, Follicular hyperplasia	OMIM:619381
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pheochromocytoma, Neoplasm of the thymus, Adrenal hyperplasia, Pr...	ORPHA:99889
African Trypanosomiasis	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal prolactin level, Pericarditis, Hep...	ORPHA:3385
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Pericardial effusion, Pancreatic calcification, Cardiomegaly, Hepatic ca...	ORPHA:51608
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Imperforate hymen, Hematocolpos, Exaggerated startle response, Chordee, Cryptorchidi...	OMIM:619522
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Precocious puberty, Uterine prolapse, Dystonia, Abnormality of the ...	ORPHA:438213
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:536
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250

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 Cndp2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Cndp2.

No publications found that use IMPC mice or data for Cndp2.

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

MGI Allele	Allele Type	Produced
Cndp2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cndp2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Cndp2^{tm1e(EUCOMM)Hmgu}	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: Cndp2 MGI:1913304

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Cndp2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data