Gene Summary

Name:
CNDP dipeptidase 2
Synonyms:
0610010E05Rik,  Pep1,  Dip-2,  Cn2,  Pep-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged seminal vesicle Cndp2em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Cndp2em1(IMPC)Mbp HOM Late adult 0.00
anophthalmia Cndp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Cndp2em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Cndp2em1(IMPC)Mbp HOM Late adult 0.00
increased startle reflex Cndp2em1(IMPC)Mbp HOM   Early adult 7.39×10-05
abnormal eye morphology Cndp2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Cndp2em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Cndp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Cndp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Cndp2em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Cndp2em1(IMPC)Mbp HOM Late adult 0.00
abnormal pancreas morphology Cndp2em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Cndp2em1(IMPC)Mbp HOM Late adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

103 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

37 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center 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
Anophthalmia, Microphthalmia ORPHA:85275
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Ethanolaminosis
Cardiomegaly OMIM:227150
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Fryns Microphthalmia Syndrome
Unicornuate uterus, Anophthalmia, Microphthalmia 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
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Anophthalmia, Cryptorchidism, Abnormal spleen morpho... ORPHA:2470
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Lymphadenopathy, Hepatomeg... ORPHA:858
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Hepatitis, Lymphadenopathy ORPHA:444463
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Meckel Syndrome, Type 8
Ambiguous genitalia, Anophthalmia, Microphthalmia OMIM:613885
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal... ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... OMIM:208540
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Optic nerv... OMIM:610125
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Azoospermia, Splenomegal... OMIM:235200
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100025
Anencephaly 2
Anophthalmia OMIM:619452
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100024
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Ovarian neopl... ORPHA:83469
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Splenomegaly, Lymphadenopathy OMIM:603552
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Trisomy 13
Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Displacement of t... ORPHA:3378
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Klatskin Tumor
Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:139471
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphaden... OMIM:602450
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating aspartate aminotransferase concentration, Hepatosplenomegaly, Splenomegaly, ... OMIM:615559
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy ORPHA:100083
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia ORPHA:66625
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Immunodeficiency 54
Hepatomegaly, Adrenocorticotropic hormone excess, Splenomegaly, Lymphadenopathy OMIM:609981
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Elevated circula... OMIM:212140
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:2584
Trisomy 1Q
Small scrotum, Ambiguous genitalia, Cryptorchidism, Anophthalmia ORPHA:261344
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:37748
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism, Anophthalmia ORPHA:90322
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:613101
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the ... OMIM:601186
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618495
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis ORPHA:85414
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy ORPHA:397596
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormal lymph node morphology ORPHA:677
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98848
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:899
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:209950
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ... ORPHA:1332
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, S... OMIM:267010
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:614034
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... ORPHA:1333
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:619375
Roifman Syndrome
Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Hepatomegaly OMIM:616651
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Splenomegaly, Lymphadenopathy ORPHA:79477
Immunodeficiency 7
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:615387
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas... ORPHA:2250
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly, Follicular hyperplasia OMIM:614470
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, C... ORPHA:465508
Meckel Syndrome
Accessory spleen, Cryptorchidism, Anophthalmia, True hermaphroditism, Aplasia/Hypoplasia of the i... ORPHA:564
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:607594
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Anophthalmia, Microphthalmia OMIM:248450
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... OMIM:601346
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit... OMIM:206900
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice 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
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615122
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Cockayne Syndrome Type 1
Tremor, Male hypogonadism, Cryptorchidism, Anophthalmia ORPHA:90321
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Leishmaniasis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Lymphadenopathy ORPHA:507
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Niemann-Pick Disease, Type A
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Hepatomegaly, Elevat... OMIM:257200
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Splenomegaly, Pancreatitis, Lymphadenopathy, Myocarditis,... ORPHA:549
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... 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, Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Lymph... ORPHA:85450
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:619183
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Holoprosencephaly
Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Dystonia, Microphtha... ORPHA:2162
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3412
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Jaundice ORPHA:381
Mycosis Fungoides
Lymphadenopathy OMIM:254400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Jaundice, Absent tonsils, Lymph node hypoplasia ORPHA:276
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:3226
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Splenomegaly, Lymphadenopathy, Hepatomegaly, Fulminant hepatitis OMIM:308240
Rhabdoid Tumor
Neoplasm of the liver, Lymphadenopathy ORPHA:69077
Sézary Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3162
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Acute pa... OMIM:618935
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi... OMIM:615710
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Lymphadenopathy ORPHA:79456
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration... OMIM:615895
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:601859
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf... OMIM:620609
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Cryptorchidism, Anophthalmia ORPHA:1101
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... ORPHA:3392
Immunodeficiency 91 And Hyperinflammation
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatosplenomegal... OMIM:619644
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Lymphadenopathy OMIM:613011
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis OMIM:618886
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Scrub Typhus
Myocarditis, Splenomegaly, Lymphadenopathy ORPHA:83317
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:824
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst OMIM:167800
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericardial effusion ORPHA:36412
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hep... OMIM:603909
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo... ORPHA:781
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Anophthalmia, Perineal fistula, Microphthalmia, Rectovaginal fistula ORPHA:2538
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Right atrial enlargement, Cirrhosis, Left ventricular hype... ORPHA:57777
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Lymphadenopathy ORPHA:99812
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Macrophage Activation Syndrome
Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransferase concentratio... ORPHA:158061
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney OMIM:200995
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
14Q22Q23 Microdeletion Syndrome
Small scrotum, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:264200
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Enlarged ... OMIM:308230
Agammaglobulinemia, X-Linked
Cor pulmonale, Lymph node hypoplasia, Prostatitis, Enteroviral hepatitis, Epididymitis, Hepatocel... OMIM:300755
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase... ORPHA:100080
Castleman Disease
Restrictive cardiomyopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy,... ORPHA:160
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri... ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr... OMIM:617713
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Anaplastic Thyroid Carcinoma
Nodular goiter, Lymphadenopathy, Goiter ORPHA:142
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Lymphatic Filariasis
Lymphadenitis, Abnormal scrotum morphology, Orchitis, Abnormality of the lymphatic system, Vagina... ORPHA:2035
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Anophthalmia, Male pseudohermaphroditism, Ambigu... ORPHA:2556
Felty Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericarditis ORPHA:47612
Fraser Syndrome 1
Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Micropenis, Abnorma... OMIM:219000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616100
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Splenomegaly, Pancreatitis, Pancreatic f... OMIM:232220
Omenn Syndrome
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Boutonneuse Fever
Cervical lymphadenopathy, Elevated circulating hepatic transaminase concentration, Lymphadenopathy ORPHA:83313
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy OMIM:301078
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100026
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Omenn Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:39041
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Decreased liv... ORPHA:540
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias OMIM:616897
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Lympha... ORPHA:139402
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Tafro Syndrome
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:457077
Aggressive Systemic Mastocytosis
Decreased liver function, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Lymphadenopathy ORPHA:98850
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Cerebrooculonasal Syndrome
Hypoplastic male external genitalia, Anophthalmia, Optic nerve hypoplasia OMIM:605627
Bronchial Neuroendocrine Tumor
Abnormal pulmonary valve cusp morphology, Hepatic failure, Chronic noninfectious lymphadenopathy,... ORPHA:97287
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Immunodeficiency 10
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:612783
Alveolar Echinococcosis
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Abnormal pericardium ... ORPHA:284
Mixed Connective Tissue Disease
Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis ORPHA:809
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy, Elevated circulating hepatic transaminas... ORPHA:100093
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi... ORPHA:100086
Cinca Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:1451
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase... ORPHA:100082
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly, Tremor OMIM:613179
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Pearson Syndrome
Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra... ORPHA:699
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit... ORPHA:64744
Cyclic Neutropenia
Cervical lymphadenopathy, Peritonitis, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, H... ORPHA:100085
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Cholestasis, Mitral valve prolapse, Hepatomegaly, Right atrial enla... OMIM:620233
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Elevated circula... OMIM:608836
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Liver abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Liver abscess OMIM:233710
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Fibular Hemimelia
Anophthalmia ORPHA:93323
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Papa Syndrome
Lymphadenopathy ORPHA:69126
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent... OMIM:620376
Poems Syndrome
Visceromegaly, Increased circulating prolactin concentration, Hypogonadism, Splenomegaly, Lymphad... ORPHA:2905
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Tremor, Exaggerated startle response OMIM:620327
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha... ORPHA:2052
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Liver abscess OMIM:233690
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Cryptorchidism, Hyperechogenic pa... OMIM:617052
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:619802
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Annular pancreas, Tetralogy of Fallot, Atrioventr... OMIM:265380
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Hy... ORPHA:138
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom... OMIM:130650
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Lymphadenopathy OMIM:617591
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Absence of lymph node germinal center, H... ORPHA:79124
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Shaw... OMIM:616263
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:608013
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Beckwith-Wiedemann Syndrome
Visceromegaly, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Hypertrophic card... ORPHA:116
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Splenomegaly, Lympha... OMIM:603553
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:260370
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:436159
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... OMIM:214800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Elevated circulating hepatic transaminase concentration, Absent vas deferens, Abnorm... ORPHA:93111
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Ventricular septal defect, Atrial septal defect, Supernumerary nipple OMIM:605039
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Exocrine pancreat... OMIM:137920
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical... ORPHA:50918
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology ORPHA:48818
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Splenomegaly, Lymphadenopathy OMIM:267700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal... ORPHA:228308
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome... OMIM:610377
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Ventricular septal defect, Asplenia, Tricuspid s... OMIM:164280
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Abnormal heart morphology, Cryptorchidism, Micrope... 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, Elevated circulating hepatic transaminase concentration, Splenomegaly, ... ORPHA:1572
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Lymphadenopathy, Chr... ORPHA:39812
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Labial hypopla... OMIM:147791
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... ORPHA:308552
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... 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
Hepatic fibrosis, Ventricular septal defect, Ambiguous genitalia, Atrial septal defect, Pancreati... OMIM:263520
Microphthalmia, Syndromic 2
Septate vagina, Cryptorchidism, Anophthalmia, Microphthalmia, Hypospadias OMIM:300166
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec... ORPHA:2255
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... OMIM:208500
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
H Syndrome
Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Lymphadenopathy, Microp... ORPHA:168569
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:333
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Lymphadenopathy OMIM:304790
Focal Dermal Hypoplasia
Supernumerary nipple, Aniridia, Cryptorchidism, Anophthalmia, Hypoplastic nipples, Labial hypopla... 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
Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Lymphadenopathy, Pericarditis ORPHA:32960
Trisomy 8P
Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Cryptorchidism, Aplasi... ORPHA:264450
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, 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
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:616307
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic stea... OMIM:618278
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Fryns Syndrome
Hypospadias, Polysplenia, Bifid scrotum, Cryptorchidism, Ventricular septal defect, Atrial septal... OMIM:229850
Proboscis Lateralis
External genital hypoplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:100075
Ileal Neuroendocrine Tumor
Hepatic failure, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Tricus... ORPHA:100078
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric... ORPHA:31150
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Acute Generalized Exanthematous Pustulosis
Cholestasis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy ORPHA:293173
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Abnormal heart valve morphology, Abnormality of the spl... ORPHA:1606
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:614700
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis OMIM:618986
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Atrial septal defect OMIM:618162
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hypersplenism, Portal hyp... ORPHA:731
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the spleen, Abnormality of the liver, Abnormali... ORPHA:228123
Chediak-Higashi Syndrome
Macular hypoplasia, Tremor, Lymphadenopathy, Splenomegaly OMIM:214500
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... ORPHA:3384
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Liver abscess OMIM:306400
Familial Mediterranean Fever
Acute hepatic failure, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy, Perica... ORPHA:342
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Microphthalmia With Limb Anomalies
True anophthalmia, Cryptorchidism, Microphthalmia ORPHA:1106
Brucellosis
Hypersplenism, Abnormality of the liver, Epididymitis, Splenomegaly, Abnormal aortic valve morpho... ORPHA:1304
Congenital Syphilis
Hepatosplenomegaly, Pancreatitis, Lymphadenopathy, Myocarditis, Prolonged neonatal jaundice ORPHA:499009
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... OMIM:557000
Branchiooculofacial Syndrome
Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Microphthalmia, Hyposp... OMIM:113620
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:260920
Bohring-Opitz Syndrome
Cardiomegaly, Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology ORPHA:97297
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Adenoiditis, Splenomegaly, Abnormal mitral valve morphology, Abnormal aort... ORPHA:581
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ... OMIM:620371
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Igg4-Related Kidney Disease
Lymphadenitis, Decreased liver function, Abnormal mesentery morphology, Sialadenitis, Cholecystit... ORPHA:449395
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Cherubism
Submandibular lymph node enlargement, Marcus Gunn pupil OMIM:118400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Microphthalmia, Syndromic 6
Small scrotum, Cryptorchidism, Anophthalmia, Microphthalmia, Female hypogonadism, Anterior hypopi... OMIM:607932
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hepatic cysts, Mitral valve prolapse, Pancreatic cysts, Po... ORPHA:730
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:33226
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Dilated cardiomyopathy, Elevated circulating hepatic transaminase co... OMIM:615688
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Dilated cardiomyopathy, Cholestasis, Biventricular hypertrophy, Atrioventricular... OMIM:619573
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenoma, Patent foramen ova... ORPHA:96149
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Bone marrow hypocellularity, Annular pancreas, Cry... ORPHA:2308
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Lymphadenopathy ORPHA:93552
Neuroendocrine Neoplasm Of Appendix
Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, A... ORPHA:100079
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
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Cryptorchidism, Bicuspid aortic valve, Ambiguous genitalia, Pancreatic... OMIM:301111
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... 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
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
17Q12 Microdeletion Syndrome
Elevated circulating hepatic transaminase concentration, Cryptorchidism, Shawl scrotum, Pancreati... ORPHA:261265
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Hypospadias OMIM:616975
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Car... ORPHA:14
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98849
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:3260
Von Hippel-Lindau Syndrome
Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts, Epididymal cyst, Neoplasm of the pancreas... OMIM:193300
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:252500
Tay-Sachs Disease
Precocious puberty, Laryngeal dystonia, Tremor, Exaggerated startle response, Dystonia ORPHA:845
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Atypical or prolonged hepatitis, Lymphadenopathy ORPHA:83471
Ogden Syndrome
Secundum atrial septal defect, Decreased testicular size, Cryptorchidism, Patent foramen ovale, M... OMIM:300855
Carney Triad
Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Behçet Disease
Splenomegaly, Orchitis, Abnormal myocardium morphology, Pancreatitis, Lymphadenopathy, Endocardit... ORPHA:117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Microphthalmia OMIM:253800
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Lymphangioleiomyomatosis
Abnormal morphology of female internal genitalia, Pulmonary lymphangiomyomatosis, Abnormality of ... ORPHA:538
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatitis, Lymphad... ORPHA:449563
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
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
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:614162
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Parotitis, Splenomegaly, Cardiomegaly, L... OMIM:256040
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatosplenome... ORPHA:167
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries ORPHA:137675
Hennekam Syndrome
Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Pericardial effusion, Lymphangioma ORPHA:2136
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... 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
Hepatic failure, Parotitis, Pericardial effusion, Cholecystitis, Splenomegaly, Orchitis, Lymphade... ORPHA:99827
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatitis, Lymphadenopathy ORPHA:37042
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Abnormal salivary gland morphology, Splenomegaly, Generalized lympha... OMIM:181000
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Hepatitis, Hypersplenism, Chronic noninfectious lymphadenopathy, Spl... ORPHA:3261
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatosplen... ORPHA:51
Rothmund-Thomson Syndrome, Type 2
Hypogonadism, Annular pancreas, Cryptorchidism OMIM:268400
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Autosomal Recessive Malignant Osteopetrosis