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Gene: Abl1 MGI:87859

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
c-abl oncogene 1, non-receptor tyrosine kinase
Synonyms:
c-Abl,  E430008G22Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Abl1 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.

The table below shows human diseases associated to Abl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect OMIM:617602
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232

The table below shows human diseases predicted to be associated to Abl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 79
Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of CD4... OMIM:619238
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 104
Pneumonia, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fai... OMIM:608971
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Reticular Dysgenesis
Sepsis, Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Death in childhood, Lymp... OMIM:619164
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, Failure to thrive, Hypoplasia of the thymus, Recurrent fungal infections, Im... OMIM:300400
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Immunodeficiency 19
Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Fail... OMIM:615617
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Severe cytomegalovirus infection, Im... OMIM:619313
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaire... OMIM:269840
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... OMIM:617241
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal infections, BCGosis, Hepatomeg... OMIM:616622
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Omenn Syndrome
Recurrent viral infections, Failure to thrive, Splenomegaly, Recurrent bacterial infections, Hypo... OMIM:603554
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent otitis media, Ly... OMIM:615401
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni... ORPHA:397596
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abnormal proportion of CD8-positive ... OMIM:212050
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... OMIM:618987
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Recurrent respiratory infections, Recurrent o... OMIM:300853
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Absence of lymph node germinal... ORPHA:277
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Failure to thrive, Skin r... OMIM:618108
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Decreased body weight, Anemia, Rectal prolapse ORPHA:209964
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Immunodeficiency, Common Variable, 1
Pneumonia, Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recu... OMIM:607594
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency 112
Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,... OMIM:620449
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... OMIM:613493
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neut... OMIM:613501
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Esophageal... ORPHA:75233
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Recurrent bacterial infections, Microcephaly, Thrombocyt... ORPHA:169079
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respir... ORPHA:444463
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... OMIM:601457
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Pulmona... OMIM:618986
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... OMIM:112200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum,... OMIM:618982
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... OMIM:115197
Immunodeficiency 9
Failure to thrive, BCGitis, Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell c... OMIM:612782
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,... OMIM:150550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:602450
Desmoplastic Small Round Cell Tumor
Ileus, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal perito... ORPHA:83469
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Meconium ileus, Exocrine pancreatic in... OMIM:219700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... OMIM:243150
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Follicular hype... OMIM:240500
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Decrea... OMIM:615607
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Opportunistic infection, Recurrent candida infections, Hypothy... ORPHA:83471
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Immunodeficiency 50
Lymphopenia, Recurrent respiratory infections, Eczematoid dermatitis, Neutropenia OMIM:300988
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi... OMIM:147060
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Decreased testicular size, A... OMIM:617053
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In... ORPHA:93941
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis, B lymphocytopenia, Recur... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to thrive, Recu... ORPHA:169154
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade... OMIM:620282
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... OMIM:619510
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Absent circulating B cells, Abnormal T cell morpholo... OMIM:613500
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... ORPHA:77297
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Immunodeficiency 32B
Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, He... OMIM:226990
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis m... OMIM:618495
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Death in infancy, Neonatal death OMIM:617184
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi... OMIM:612541
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Recur... OMIM:607271
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Death in childhood... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Hepatome... ORPHA:276
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Decreased proportion of class-switched memory B cells, Failure to thrive, ... OMIM:615767
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ... ORPHA:2930
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gastric polyp... OMIM:174900
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Cryptorchidism, Epicanthus, Microcephaly, Rec... OMIM:616910
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... OMIM:209950
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegal... OMIM:619824
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Weight loss, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ... ORPHA:75249
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, ... OMIM:616005
Immunodeficiency 95
Lymphopenia, Recurrent respiratory infections, Recurrent viral upper respiratory tract infections... OMIM:619773
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c... OMIM:208900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Abnormal T ... OMIM:612692
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Gastri... OMIM:613490
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Primary microcephaly ORPHA:89844
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy, Severe varicella zoster i... OMIM:618261
Isolated Agammaglobulinemia
Pneumonia, Failure to thrive, Recurrent respiratory infections, Abnormal lymphocyte morphology, O... ORPHA:229717
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Abnormal lymph no... ORPHA:911
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Failure to ... OMIM:600802
Immunodeficiency 68
Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent ... OMIM:612260
Immunodeficiency 115 With Autoinflammation
Recurrent viral infections, Intestinal lymphangiectasia, Splenomegaly, Recurrent bacterial infect... OMIM:620632
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Failure to thrive, Recurrent en... ORPHA:331206
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in childhood, Death in infancy, Cardiomegaly, Pulmonary arterial hypertension, Hepatomegaly OMIM:619064
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Ovarian cyst, Rectal prolapse, ... OMIM:175200
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegal... OMIM:614470
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... ORPHA:60033
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Decreased body weight, Progressive microcephaly, De... ORPHA:477814
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Elevated circulating hepatic transaminase concentration, Emphysema, Ly... ORPHA:1572
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Gastrointestina... ORPHA:298
Pulmonary Blastoma
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma ORPHA:64741
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Failure to thrive, Palpebral edema, Opacification of the corneal stroma, Cryptorchidism... OMIM:214110
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Slender build, Gastrointestinal dysmotility, Cachexia, Weight loss OMIM:613662
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Weight loss, Hepatomegaly, Jaundice ORPHA:79238
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... OMIM:614172
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly, Neonatal death OMIM:273680
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Pneumocystis jirovecii pneumonia, Hemophag... OMIM:301078
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, ... ORPHA:3032
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope... OMIM:616100
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Rectal prolapse, Peritonitis, P... ORPHA:90038
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... ORPHA:169160
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Failure to thrive, Leukopenia... ORPHA:33355
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Recurrent viral i... OMIM:606367
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Ga... OMIM:613177
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t... ORPHA:436159
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Gracile Bone Dysplasia
Asplenia, Aniridia, Hypoplastic spleen, Failure to thrive OMIM:602361
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... ORPHA:42642
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Immunodeficiency 70
Celiac disease, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Achalas... OMIM:618969
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Felty Syndrome
Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, A... ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Lymphadeno... OMIM:618048
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Short palpebral fissure, Thin eyebrow, Epic... OMIM:618092
Cystic Fibrosis
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Decreased body ... ORPHA:586
Lymphangiectasia, Intestinal
Lymphopenia, Stillbirth, Intestinal lymphangiectasia OMIM:152800
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Eosinophilia, Ulcerative colitis OMIM:617638
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Leukodystrophy, Hypomyelinating, 24
Microcephaly, Hypothyroidism, Cataract, B lymphocytopenia OMIM:619851
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Abnormal B cell count, Recurrent bacterial infections, Hepatomegaly, Recur... OMIM:613496
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Absent natural killer cells, Rectovaginal fistula, Failure to thrive in infa... ORPHA:35078
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy, Neonatal death OMIM:618237
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Recurrent pneumonia, Recurrent viral infections, Failure to thrive, C... OMIM:102700
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Abnor... ORPHA:133
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea... OMIM:278000
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Death in childho... OMIM:620609
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopath... ORPHA:424016
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Death in childhood, Cardiomegaly, Hepatomegaly OMIM:269920
Immunodeficiency 92
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp... OMIM:619652
Acitretin/Etretinate Embryopathy
Antecubital pterygium, Hypoplasia of the thymus, Microcephaly, Epicanthus ORPHA:40366
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati... OMIM:618935
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... OMIM:616028
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:86893
Mevalonic Aciduria
Microcephaly, Cataract, Splenomegaly, Downslanted palpebral fissures ORPHA:29
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Leukopenia, Pancytopenia, Abnormal macro... ORPHA:507
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate, Aspiration pneumonia ORPHA:141152
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Miscarriage ORPHA:464370
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Heme Oxygenase 1 Deficiency
Sepsis, Cervical lymphadenopathy, Chemosis, Lymphadenopathy, Coombs-positive hemolytic anemia, Th... OMIM:614034
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Failure to thrive, Protruding tongue, Chronic bronc... OMIM:242860
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Pleural Mesothelioma
Abnormal pleura morphology, Pleural effusion, Weight loss, Lymphadenopathy, Hepatomegaly, Abnorma... ORPHA:50251
Selective Igm Deficiency
Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,... ORPHA:331235
Follicular Lymphoma
Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Med... ORPHA:545
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Transient neutropenia, Abnormal B cel... OMIM:607676
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... ORPHA:699
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis, Abnormal pleura morphology ORPHA:2582
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Death in childhood, Failure to thrive, Aspiration pneumonia OMIM:609528
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Downslanted palpebral fissures, Microcephaly, Neutropenia, Recurrent respiratory infect... ORPHA:2643
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Invasive fungal infection, Failure to thrive, Chronic mucocut... ORPHA:98813
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Pericardial lymphangiectasia, Erysipelas, Intestinal lymphangiectasia... OMIM:235510
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia OMIM:614702
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar... ORPHA:251992
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Rectal abscess, Recurrent otitis media, Recurrent sinusit... OMIM:601495
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Celiac disease, Exocrine pan... OMIM:615952
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Recurrent ... OMIM:620210
Whipple Disease
Uveitis, Gastrointestinal hemorrhage, Pleuritis, Splenomegaly, Infectious encephalitis, Myositis,... ORPHA:3452
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Asplenia OMIM:618948
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ... ORPHA:486
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... OMIM:614069
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Conjunctivitis, Failure to thrive, Oste... ORPHA:47
Immunodeficiency 12
Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Death in adolescence, Abnormal l... OMIM:615468
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia, Persistent human papillomavirus infection, Cryptococcal meningitis OMIM:618309
Immunodeficiency 31C
Protein-losing enteropathy, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Intussuscep... OMIM:614162
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... OMIM:618394
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death OMIM:619003
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Recurrent otitis media... OMIM:620430
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Recurrent pneumonia, Polysplenia OMIM:620642
Omenn Syndrome
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatom... ORPHA:39041
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, De... OMIM:307200
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal ly... ORPHA:54251
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Death in infancy ORPHA:157973
Christianson Syndrome
Cachexia, Gastroesophageal reflux, Dysphagia, Death in early adulthood ORPHA:85278
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse OMIM:619793
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Nodular goi... ORPHA:1332
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Cachexia, Anemi... OMIM:175500
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Sepsis, Keratitis, Recurrent respiratory infectio... ORPHA:906
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Protein-losing enteropathy, Hematochezia, Leukocytosis, Eos... ORPHA:2070
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Cataract OMIM:204200
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin... OMIM:617341
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... ORPHA:84064
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Death in infancy, Neonatal death, Small thenar eminence, Miscarriage OMIM:613390
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, Microcephaly, B lymphocytopenia, Recurrent lower respira... OMIM:615966
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Death in infancy, Monocytosis, Chronic oral... OMIM:615592
Alexander Disease Type I
Cachexia, Dysphagia, Failure to thrive ORPHA:363717
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Ecz... OMIM:243700
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom... OMIM:201475
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Increas... OMIM:620367
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly ORPHA:1133
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:256550
Atelis Syndrome 1
Cataract, Downslanted palpebral fissures, Leukopenia, Hypothyroidism, Thrombocytopenia, Anemia, R... OMIM:620184
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the g... ORPHA:1876
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... OMIM:618955
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Failure to thrive, Recurrent gast... ORPHA:275
Pseudomyxoma Peritonei
Inflammation of the large intestine, Intestinal obstruction, Weight loss, Lymphadenopathy, Abnorm... ORPHA:26790
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Hemophagocytic Syndrome Associated With An Infection
Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par... ORPHA:158048
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections OMIM:300299
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Failure to thrive, Microcephaly, Thrombocytopenia ORPHA:67048
Agammaglobulinemia, X-Linked
Recurrent infections, Recurrent pneumonia, Sepsis, Conjunctivitis, Enteroviral dermatomyositis sy... OMIM:300755
Renpenning Syndrome
High, narrow palate, Decreased testicular size, Cachexia, Anal atresia, Cleft palate ORPHA:3242
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Recurrent sinu... OMIM:615482
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Moynahan Syndrome
Cachexia ORPHA:2574
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Telangiectasia, Arrhythmia,... OMIM:235200
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract OMIM:618660
Dubowitz Syndrome
Anal stenosis, Eczematoid dermatitis, Cryptorchidism, Submucous cleft hard palate, Anemia, Thromb... ORPHA:235
Melioidosis
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, Abnormalit... ORPHA:31202
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Cataract, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancr... OMIM:269200
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Eosino... ORPHA:1163
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Death in infancy, Cerebral hemorrhage OMIM:618886
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr... OMIM:616576
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Elevated cir... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... OMIM:301045
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... OMIM:233710
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Downslanted palpebral fissure... ORPHA:2969
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Decreased proportion of class-switched me... OMIM:614878
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent viral infections, Adrenocorticotropin def... ORPHA:293978
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Reduced natural killer cell count, Recurrent upper respiratory tract infection... OMIM:619752
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Neonatal death, Cachexia, High palate, Narrow palate OMIM:618186
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... OMIM:618999
Mevalonic Aciduria
Cataract, Nuclear cataract, Fluctuating splenomegaly, Failure to thrive, Downslanted palpebral fi... OMIM:610377
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Chronic noninfectious lymphadenopathy, Oral-phar... ORPHA:100083
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t... ORPHA:436252
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Short palpebral fissure, Lymphopenia, Upsla... OMIM:617237
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Lymphopenia, Lymph no... OMIM:613179
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Skin rash, Abnormality of the gastrointestin... ORPHA:33276
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... OMIM:233690
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Decreased liver function, Hepatosplenomegaly, Pancytopenia, Hyperspl... ORPHA:98850
Fusariosis
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia... ORPHA:228119
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... ORPHA:53035
Muscular Hypertonia, Lethal
Pneumonia, Death in infancy OMIM:254120
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:391
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Systemic Lupus Erythematosus 17
Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoimmune throm... OMIM:301080
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Splenomegaly, Aplasia/Hypoplasia of the iris, Hepatomegaly, M... ORPHA:290
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Decreased CD4:CD8 ratio, Epicanthus, Acute myeloid leukemia, Leukemia OMIM:614038
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Leukocytosis, Pleural effusion, Intestin... ORPHA:67
Microphthalmia, Syndromic 9
Multilobulated spleen, Cryptorchidism, Neonatal death, Blepharophimosis, Hypoplastic spleen OMIM:601186
Radiation Proctitis
Hematochezia, Sepsis, Abnormal rectum morphology, Intestinal obstruction, Rectal fistula, Abnorma... ORPHA:70475
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:614868
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegal... OMIM:620603
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, High palate, Sinusitis, A... ORPHA:33110
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, ... OMIM:619381
Hemochromatosis, Type 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Arthritis, Neutr... OMIM:604250
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Elevated circulating hepatic transaminase concentration, Leukopenia, Cryptorchidism, ... OMIM:301056
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Autoimmune hemolytic anemia, Eosinophilia, Rec... OMIM:610163
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Cholelithiasis, Female hypogonadism, Male hypogonadism, Type I diabetes mellitus, Chron... OMIM:240300
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Trichothiodystrophy 3, Photosensitive
Cataract, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Neutropenia, Developmental ca... OMIM:616395
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Ocular ... OMIM:608233
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Ectopia pupillae, Decreased response to growth hormone stimulation te... OMIM:618223
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... OMIM:612387
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, El... ORPHA:400
Maternal Uniparental Disomy Of Chromosome 1
Cataract, Type I diabetes mellitus, Failure to thrive, Pancytopenia, Hepatomegaly, Recurrent infe... ORPHA:251009
Noonan Syndrome 12
Atopic dermatitis, Anteriorly placed anus, Decreased response to growth hormone stimulation test,... OMIM:618624
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Microlissencephaly
Pneumonia ORPHA:1083
Galactokinase Deficiency
Cataract, Nuclear cataract, Failure to thrive, Hepatosplenomegaly, Hyperinsulinemia, Microcephaly... ORPHA:79237
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Facial hypotonia, Heart murmur, Shortened PR interval, Cardiomegaly,... ORPHA:308552
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227990
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Death in infancy, Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Hypereosinophilia, Leukocytosis, Pleural effusion, Abnormality of... ORPHA:2902
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N... ORPHA:238459
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... OMIM:620296
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Cachexia ORPHA:884
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227982
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Downslanted palpebral fissures OMIM:617022
Digeorge Syndrome
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, Posterior embryotoxon, Blepharophimosis,... OMIM:188400
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:39812
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Skin rash, Intestin... ORPHA:44890
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak... OMIM:619767
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Cataract, Exocrine pancreatic insuf... OMIM:620005
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Immunodeficiency 44
Lymphopenia, Elevated circulating alanine aminotransferase concentration OMIM:616636
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure OMIM:619259
Avian Influenza
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Lymphope... ORPHA:454836
Vici Syndrome
Cataract, Recurrent viral infections, Failure to thrive, Chronic mucocutaneous candidiasis, Ocula... OMIM:242840
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Esophageal stenosis OMIM:615190
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... ORPHA:2688
Treacher-Collins Syndrome
Blepharospasm, Iris coloboma, Cataract, Failure to thrive, Downslanted palpebral fissures, Crypto... ORPHA:861
Nijmegen Breakage Syndrome
Recurrent pneumonia, Acute leukemia, Anal stenosis, Anorectal anomaly, Autoimmune hemolytic anemi... ORPHA:647
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Failure to thrive, Recurrent otitis media, Recurrent infect... OMIM:615207
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun... ORPHA:3427
Alpha-Mannosidosis
Cataract, Type II diabetes mellitus, Splenomegaly, Corneal opacity, Macrocephaly, Hepatomegaly, R... ORPHA:61
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... ORPHA:183675
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu... OMIM:306400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Crohn... OMIM:266600
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Failur... ORPHA:100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra... ORPHA:158687
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis ORPHA:86884
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Death in childhood, Cardiomegaly, Orthostatic hypote... OMIM:268800
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morph... ORPHA:760
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Upslanted palpebral fissure, Decreased body weight, Epicanthus, Microcephaly, Iron defi... OMIM:607906
Q Fever
Hepatosplenomegaly, Weight loss, Hepatomegaly, Endocarditis, Granuloma, Osteomyelitis, Abnormalit... ORPHA:781
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Cardiomyopathy, Neonatal death OMIM:618839
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia OMIM:193670
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Failure to thrive, Eosinophilic mi... ORPHA:411696
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Shigellosis
Pneumonia, Hepatic failure, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, F... ORPHA:810
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:69077
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinophilia, Macroglossia, Recurrent r... OMIM:618523
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Cataract, Lymphopenia,... ORPHA:508542
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Death in infancy, Neonatal death OMIM:618835
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Recurrent otitis ... OMIM:619774
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Acute infectious pneumonia, ... ORPHA:36238
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Slender build, Death in early adulthood, Gast... OMIM:603041
Intestinal Dysmotility Syndrome
High palate, Decreased intestinal transit time, Weight loss, Failure to thrive OMIM:620045
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Neonatal... OMIM:263200
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Weight loss, Acute infectio... ORPHA:723
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob... ORPHA:1333
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to thrive, L... OMIM:615816
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... ORPHA:480520
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Recurrent upper respiratory tract infections, Inflammatory abnormality of t... ORPHA:391487
Leprechaunism
Megarectum, Failure to thrive, Decreased body weight, Enlarged ovaries, Hepatomegaly, Rectal prol... ORPHA:508
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Failure to thrive, Abnormal lung lobation, Intestinal malr... ORPHA:2538
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Oral leukoplakia, Failure to thri... OMIM:613989
Anaplastic Thyroid Carcinoma
Goiter, Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Nodular goiter, Dysphagia, Neopl... ORPHA:142
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Cataract, Small for gestational age, Recurrent viral infections, Band ... ORPHA:2959
22Q11.2 Deletion Syndrome
Cryptorchidism, Epicanthus, Posterior embryotoxon, Hypoparathyroidism, Cataract, Cholelithiasis, ... ORPHA:567
Eec Syndrome
Sparse eyebrow, Blepharitis, Keratitis, Decreased response to growth hormone stimulation test, Th... ORPHA:1896
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega... OMIM:605309
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Upslanted palpebral fissure, Cryptorchidism, Microcephaly, Asplenia OMIM:619123
19Q13.11 Microdeletion Syndrome
Failure to thrive, Supernumerary nipple, Cryptorchidism, Cachexia, Recurrent respiratory infections ORPHA:217346
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... OMIM:232300
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Ileus ORPHA:52503
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Fai... OMIM:614576
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemi... OMIM:620321
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr... ORPHA:98849
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... ORPHA:980
Fucosidosis
Hepatomegaly, Cardiomegaly, Decreased muscle mass ORPHA:349
Alpha-Mannosidosis, Adult Form
Cataract, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Corneal opacity, Recurrent... ORPHA:309288
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Hepat... OMIM:618805
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-positive T cells, Acut... ORPHA:125
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Death in infancy OMIM:275300
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Recurrent respiratory infections, Cachexia ORPHA:702
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... OMIM:615415
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Splenomegaly, In... ORPHA:549
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye, Panniculitis ORPHA:33577
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Congestive heart failure, Portal hypertension, Splenomegal... ORPHA:465508
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Failure to thrive, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Sk... OMIM:615934
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Glycogen Storage Disease Iv
Hepatic failure, Failure to thrive, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Esophagea... OMIM:232500
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Subpleural interstitial thickenin... ORPHA:79128
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chron... ORPHA:169090
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Gaucher Disease, Type Ii
Bronchiolitis, Gastroesophageal reflux, Failure to thrive, Splenomegaly, Death in infancy, Hepato... OMIM:230900
Pseudo-Torch Syndrome 1
Cataract, Failure to thrive, Splenomegaly, Microcephaly, Thrombocytopenia, Hepatomegaly, Jaundice... OMIM:251290
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Neonatal death OMIM:619362
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Hepatomegaly, Ri... OMIM:620233
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix OMIM:616589
Nephroblastoma
Neoplasm of the liver, Weight loss, Lymphadenopathy, Neoplasm of the lung ORPHA:654
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive, Obesity, Pseudohypoparathyroid... OMIM:617157
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased intestinal transit t... OMIM:619377
Secondary Short Bowel Syndrome
Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small intestine morphology, A... ORPHA:95427
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ... OMIM:613807
Multiple Sulfatase Deficiency
Cataract, Thick eyebrow, Splenomegaly, Microcephaly, Corneal opacity, Macrocephaly, Hepatomegaly ORPHA:585
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusiti... ORPHA:449280
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia, Neutropenia, Dysphagia, Small for gestational age OMIM:618253
Hemochromatosis, Type 4
Cataract, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia, Diabetes mellitus OMIM:606069
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou... ORPHA:92050
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Dysphagia, Thrombocytop... ORPHA:169105
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... ORPHA:157794
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn... ORPHA:98897
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Respiratory tract infection, Microvillar PAS-positive secretory granules, Microv... OMIM:619445
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Recurrent pneumonia, Failure to thrive, Cervical lymphadenopathy,... OMIM:617718
Hirschsprung Disease
Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Intestinal po... ORPHA:388
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphad... OMIM:617099
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Oral leukoplakia... OMIM:127550
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia, Pulmonary ... OMIM:620365
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Silver-Russell Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Decreased testicular size, Obesity, Crypto... ORPHA:813
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect... OMIM:251260
Fraser Syndrome 2
Hypoplasia of the thymus, Cryptophthalmos OMIM:617666
Wiedemann-Rautenstrauch Syndrome
Cataract, Sparse eyebrow, Failure to thrive, Downslanted palpebral fissures, Cryptorchidism, Upsl... OMIM:264090
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Hypertension, Left atrial enlargement, Pulmonary arteria... OMIM:614008
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Dermatochalasis, Reduced natural killer cell count, Recurrent viral infections, Recurrent urinary... ORPHA:221139
Systemic Capillary Leak Syndrome
Leukocytosis, Pleural effusion, Pulmonary edema, Weight loss, Pancreatitis, Myocarditis, Pericard... ORPHA:188
Monosomy 22
Hepatosplenomegaly, Epicanthus, Aplasia of the thymus, Microcephaly, Hypochromic microcytic anemi... ORPHA:96123
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome... OMIM:615688
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hepatomegaly, Weight loss, Anemia, Recurrent respiratory infections ORPHA:1842
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, Leukocytosis, Palm... ORPHA:247353
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Failure to thrive, Decreased response to growth hormone s... OMIM:603467
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Weight loss, Pneumothorax, Lymphadenopathy, Bronchiectasis ORPHA:411703
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Acute Promyelocytic Leukemia
Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Leukocytosis, Weight loss, Lymphadenopathy... ORPHA:520
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... ORPHA:79127
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... ORPHA:244
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis OMIM:616084
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... ORPHA:367
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Recurrent infecti... OMIM:258360
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Cataract, Short palpebral fissure, Sparse eyebrow, Downslanted palpebral fissures, Recurrent otit... OMIM:620654
Williams Syndrome
Peripheral pulmonary artery stenosis, Cholelithiasis, Gastroesophageal reflux, Peptic ulcer, Colo... ORPHA:904
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the gastroint... ORPHA:99867
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation, Limb hypertonia OMIM:620306
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Sp... OMIM:602782
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo... OMIM:618131
Cowden Syndrome 1
Cataract, Thyroid adenoma, Goiter, Lymphopenia, Ovarian carcinoma, Ovarian cyst, Progressive macr... OMIM:158350
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Decreased liver function, Abnormal lymph no... ORPHA:85450
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Weight loss, Erythema nodosum, Tubulo... ORPHA:797
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Cachexia, Duodenal ulcer ORPHA:3217
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice... ORPHA:60
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Pancytopenia, Esophageal stenosis OMIM:616553
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Dysphagia, Thrombocytopenia, Mel... ORPHA:319218
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Keratitis, Failure to thrive, Aspiration pneumonia, Abnormal gastrointes... ORPHA:1018
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Hepatomegaly, Malar rash, Enla... ORPHA:50918
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Irregular septal thickening on pulmonary HRCT, Thrombocytopenia, Anemi... ORPHA:90060
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Immunodeficiency 22
Recurrent upper respiratory tract infections, Failure to thrive, Decreased proportion of CD4-posi... OMIM:615758
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Stomatocytosis, Hepatosplenomegaly, Microcephaly, Zonular... ORPHA:168577
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... OMIM:116920
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 51
Small for gestational age, Aspiration pneumonia OMIM:619057
Cryptogenic Organizing Pneumonia
Pneumothorax, Leukocytosis, Weight loss, Neutrophilia ORPHA:1302
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cataract, Failure to thrive, Downslanted palpebral fissures, Thick eyebrow, Epicanthus, Microceph... OMIM:615471
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren... OMIM:607944
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hematochezia, Hepatitis, Pancytopenia, Splenome... OMIM:615846
Galactosemia I
Cataract, Failure to thrive, Reduced erythrocyte galactose-1-phosphate uridylyltransferase activi... OMIM:230400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cataract, Pancytopenia, Telecanthus, Cryptorchidism, Epicanthus, Microcephaly, Hypothyroidism, Bl... ORPHA:85321
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
3-Methylglutaconic Aciduria, Type Viib
Cataract, Recurrent pneumonia, Leukopenia, Hepatic steatosis, Microcephaly, Thrombocytopenia, Neu... OMIM:616271
Takayasu Arteritis
Gastrointestinal infarctions, Increased inflammatory response, Inflammatory abnormality of the ey... ORPHA:3287
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Hashimoto thyroiditis, Cachexia, Narro... ORPHA:109
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, Hepatomegaly, Arthrogryposis mult... OMIM:608013
Castleman Disease
Follicular hyperplasia, Intestinal obstruction, Generalized lymphadenopathy, Abnormality of the g... ORPHA:160
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Chronic noninfectious lymphadenopathy, Weight loss, Elevated circulat... ORPHA:97287
Zygomycosis
Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemorrh... ORPHA:73263
Cap Polyposis
Atrophic gastritis, Hematochezia, Weight loss, Colorectal polyposis ORPHA:160148
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Inflammation of the large intestine, Abnormal pulmonary interstitial mo... OMIM:181000
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:537
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, High palate, Cachexia, Obesity ORPHA:85293
Icf Syndrome
Recurrent respiratory infections, Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormali... ORPHA:2268
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Transposition of the great arteries, Dextrocardia,... OMIM:314390
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Abnormal rectum morphology, Anteriorly placed anus, Cleft palate OMIM:239300
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Gastroesophageal reflux OMIM:619971
Amyotrophic Lateral Sclerosis
Tongue atrophy, Cachexia, Xerostomia, Dysphagia ORPHA:803
Infantile Krabbe Disease
Cachexia, Gastroesophageal reflux, Failure to thrive ORPHA:206436
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Cataract, Failure to thrive, Decreased pineal volume OMIM:301108
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block ORPHA:228308
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Microcephaly, Hepatomegaly, Jaundice, H... OMIM:608885
Rett Syndrome
Cachexia, Gastroesophageal reflux OMIM:312750
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Abnormal pleura morphology, Skin rash, Intestinal obstruction, Increased... ORPHA:183
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Aspiration pneumonia ORPHA:90117
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis ORPHA:411593
Camurati-Engelmann Disease
Slender build, Leukopenia, Splenomegaly, Hepatomegaly, Cachexia, Anemia ORPHA:1328
Huntington Disease-Like 2
Weight loss ORPHA:98934
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia ORPHA:300605
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Abscess, Fasciitis, Osteomyelitis, Skin rash, Respiratory tract infection, ... ORPHA:36234
Mosaic Trisomy 9
Upslanted palpebral fissure, Cryptorchidism, Microcephaly, Corneal opacity, Asplenia, Biparietal ... ORPHA:99776
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis, ... ORPHA:71493
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Leukopenia, Portal hypertension, Congenital hepat... ORPHA:974
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Lathosterolosis
Intrahepatic cholestasis, Cataract, Microcornea, Failure to thrive, Downslanted palpebral fissure... ORPHA:46059
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Hepatic cysts, Death in infancy, Eosinophilia, Erythroderma, Anal atresia OMIM:617425
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp... ORPHA:729
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Igg4-Related Aortitis
Increased inflammatory response, Hypereosinophilia, Weight loss, Intestinal obstruction ORPHA:449400
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin... OMIM:619573
Malignant Peritoneal Mesothelioma
Peritonitis, Ileus, Weight loss ORPHA:168811
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Cataract, Infection associated neutropenia, Hepatic steatosis, Hypot... ORPHA:445038
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Blepharophimosis OMIM:619036
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract ORPHA:454831
Xfe Progeroid Syndrome
Death in adolescence, Cachexia, Elevated circulating hepatic transaminase concentration, Failure ... OMIM:610965
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyel... ORPHA:171876
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Ovarian neoplasm ORPHA:2221
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Recurrent r... ORPHA:36426
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Malar ... ORPHA:93552
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, High palate, Synovitis, P... ORPHA:499009
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, High palate ORPHA:596
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesenter... ORPHA:284
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Leukopenia, Skin rash, Polyc... ORPHA:2298
Feingold Syndrome 1
Accessory spleen, Short palpebral fissure, Annular pancreas, Polysplenia, Upslanted palpebral fis... OMIM:164280
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti... OMIM:608710
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Aganglionic megacolon, Anemia, Recurrent respiratory infections, Abnormality of the ... ORPHA:935
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Microcephaly, Polysplenia OMIM:605376
Wolfram Syndrome 1
Cataract, Sideroblastic anemia, Ptosis, Megaloblastic anemia, Hypothyroidism, Thrombocytopenia, T... OMIM:222300
Rat-Bite Fever
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, O... ORPHA:31205
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent upper respiratory ... OMIM:301000
Trisomy 18
Cryptorchidism, Cachexia, Anal atresia, Esophageal atresia, Narrow palate, Cleft palate ORPHA:3380
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Abnormal esophagus morphology, Spontaneous esophageal perforation, Anemia, Conjunctivitis, Dyspha... OMIM:226600
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Honey... ORPHA:2032
Plummer-Vinson Syndrome
Iron deficiency anemia, Esophageal web, Dysphagia, Hypochromic microcytic anemia, Glossitis, Chei... ORPHA:54028
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... OMIM:301068
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Absent uvula, Intestina... OMIM:619708
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Cat Eye Syndrome
Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticulum, Volvulus, Intestinal... OMIM:115470
Listeriosis
Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepatic granulom... ORPHA:533
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Keratoconjunctivitis, Weight loss, Thrombocytopenia ORPHA:79242
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ... ORPHA:1830
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Neonatal death OMIM:619817
Coffin-Lowry Syndrome
Narrow palate, High palate, Rectal prolapse, Decreased body weight OMIM:303600
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... OMIM:613021
Erythrokeratodermia Variabilis
Weight loss, Skin rash, Abnormal testis morphology ORPHA:317
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,... OMIM:617321
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient ischemic attack, F... ORPHA:365
Grfoma
Increased circulating prolactin concentration, Intestinal obstruction, Weight loss, Elevated circ... ORPHA:97261
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Failure to thrive, Anal fissure, Esophageal stricture, Ankyloglossia, De... ORPHA:89842
Agel Amyloidosis
Cataract, Bilateral ptosis, Blepharochalasis, Abnormal spleen morphology, Keratoconjunctivitis si... ORPHA:85448
Celiac Disease, Susceptibility To, 1
Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive... OMIM:212750
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct... OMIM:216360
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Glucagonoma
Increased circulating prolactin concentration, Acanthocytosis, Intestinal obstruction, Weight los... ORPHA:97280
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased testicular size, Obesity, Decreased propo... ORPHA:66628
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent... OMIM:613471
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Microcephaly, Stillbirth, Sclerocornea, ... OMIM:243605
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa... OMIM:619487
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Emphysema, Osteomyelitis, ... ORPHA:31204
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Colonic diverticula, Recurrent oti... OMIM:194050
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating p... ORPHA:97283
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess OMIM:619223
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Dysphagia ORPHA:2590
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti... OMIM:617092
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lo... OMIM:619632
Sweeney-Cox Syndrome
Asplenia, Upper eyelid coloboma, Bilateral cryptorchidism OMIM:617746
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, H... ORPHA:100085
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Panc... OMIM:613990
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Weight loss, Abnormal lung morphology, Pleuritis, Peri... ORPHA:767
Chronic Hiccup
Weight loss ORPHA:396
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased testicular size, Obesity, Decreased propo... ORPHA:179494
Yellow Nail Syndrome
Biliary tract neoplasm, Recurrent respiratory infections, Hypoplasia of lymphatic vessels, Sinusi... ORPHA:662
Li-Fraumeni Syndrome
Neoplasm of the lung, Stomach cancer, Neoplasm of the gastrointestinal tract, Neoplasm of the rec... ORPHA:524
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Meckel Syndrome
Accessory spleen, Cataract, Microcornea, Cryptorchidism, Congenital hepatic fibrosis, Aplasia/Hyp... ORPHA:564
Immunodeficiency 55
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutropenia, Re... OMIM:617827
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Oral leukoplakia, Pancytopenia, T... OMIM:224230
Al Amyloidosis
Howell-Jolly bodies, Gastrointestinal hemorrhage, Macroglossia, Xerostomia, Abnormality of the li... ORPHA:85443
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... OMIM:610910
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Pituitary adenoma, Hepatitis, Failure to thrive, Macrocytic anemia, Hashimoto ... ORPHA:199299
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Failure to thrive... ORPHA:83617
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Volvulus, Lymphopenia, Ple... ORPHA:90363
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Classical Ehlers-Danlos Syndrome
Hiatus hernia, Gastroesophageal reflux, Rectal prolapse, Osteoarthritis ORPHA:287
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Iridocyclitis, Oligoarthr... ORPHA:85408
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Gm1 Gangliosidosis
Gastroesophageal reflux, Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Splenomegal... ORPHA:354
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Telecanthus, Ptosis, Pulmonary lymphangiectasia, Hypoparathyroidism OMIM:247410
Isaacs Syndrome
Weight loss ORPHA:84142
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Pneumonia, Gastrointestinal hemorrhage, Abnormality of the hepatic vasculature... ORPHA:247691
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Failure to thrive, Conjunctivitis, Parotitis, Cholestasis, Hepatosplenomegaly, ... OMIM:620376
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Alg12-Cdg
Recurrent pneumonia, Sepsis, Failure to thrive, Cryptorchidism, Recurrent pharyngitis, Epicanthus... ORPHA:79324
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec... ORPHA:480536
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Keratoconjunc... OMIM:158310
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... OMIM:130650
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Gastroesophageal reflux, Gastrointestinal dysmotility, Keratoconjunctivitis ... ORPHA:285
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Macroglossia, Cardiomegaly, Ventricular septal defect ORPHA:96191
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Chops Syndrome
Cataract, Long eyelashes, Obesity, Thick eyebrow, Splenomegaly, Cryptorchidism, Microcephaly, Syn... OMIM:616368
Zollinger-Ellison Syndrome
Hyperparathyroidism, Gastrointestinal hemorrhage, Hematochezia, Pituitary adenoma, Peptic ulcer, ... ORPHA:913
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:26793
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Intesti... ORPHA:97278
Cartilage-Hair Hypoplasia
Anal stenosis, Lymphopenia, Macrocytic anemia, Aganglionic megacolon, Esophageal atresia, Impaire... OMIM:250250
Cleft Velum
Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Aspiration pneumonia, Recurrent otitis m... ORPHA:99772
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegal... ORPHA:186
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy ORPHA:99868
Schwartz-Jampel Syndrome
Decreased testicular size, Death in infancy, Decreased body weight, Cachexia, High palate, Testic... ORPHA:800
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Brain abscess, Gastrointestinal infarctions, Pleuritis, Leukocytosis, Respiratory trac... ORPHA:544482
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver par... ORPHA:456312
Pyomyositis
Testicular teratoma, Leukocytosis, Myositis, Weight loss, Recurrent cutaneous abscess formation ORPHA:764
Ileal Neuroendocrine Tumor
Hepatic failure, Elevated circulating hepatic transaminase concentration, Intestinal fistula, Zol... ORPHA:100078
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,... ORPHA:420741
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Diastasis recti, Spl... OMIM:252500
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Ocular albinism, Abnormality of neutrophils ORPHA:2720
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Neutropenia, Schistoc... OMIM:301110
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr... ORPHA:449395
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi... ORPHA:100086
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Cleft palate, High palate OMIM:300484
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Dyskeratosis Congenita
Bone marrow hypocellularity, Cataract, Blepharitis, Recurrent respiratory infections, Abnormal ey... ORPHA:1775
Fucosidosis
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy OMIM:230000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Death in childhood, Cardiomegaly, Hepatomegaly OMIM:618278
Cockayne Syndrome
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Malar rash, Spl... ORPHA:191
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Lipid accumula... ORPHA:20
Polymyositis
Gastrointestinal hemorrhage, Gastroesophageal reflux, Weight loss, Arthritis, Hepatomegaly, Abnor... ORPHA:732
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis OMIM:211400
Coccidioidomycosis
Pneumonia, Folliculitis, Granuloma, Exudative pleural effusion, Abnormality of the spleen, Morbil... ORPHA:228123
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... OMIM:618699
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Pleural effusion, Spl... ORPHA:2905
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocy... ORPHA:289390
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Weight loss, Hematochezia ORPHA:103910
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia, Aspiration pneumonia ORPHA:216866
Loeffler Endocarditis
Eosinophilia, Weight loss, Left ventricular hypertrophy, Pericarditis ORPHA:75566
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,... ORPHA:440437
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Elevated circulating hepatic transaminase concentration, Uri... ORPHA:99921
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Spondyloenchondrodysplasia
Pneumonia, Granuloma, Hepatitis, Decreased response to growth hormone stimulation test, Pancytope... ORPHA:1855
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis, Esophageal v... OMIM:215600
Neuroendocrine Tumor Of The Colon
Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, W... ORPHA:100080
Neuroendocrine Tumor Of Stomach
Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l... ORPHA:100075
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Malt Lymphoma
Posterior uveitis, Weight loss, Lymphadenopathy, Anemia, Recurrent respiratory infections, Medias... ORPHA:52417
Wild Type Attr Amyloidosis
Pleural effusion, Pulmonary edema, Gastrointestinal dysmotility, Weight loss, Hepatomegaly, Abnor... ORPHA:330001
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Iris coloboma, Sparse eyebrow, Absent nipple, Lacrimal duct aplasia, Downslanted palpebral fissur... OMIM:620186
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Intest... ORPHA:900
Lymphatic Malformation 13
Mitral regurgitation, Patent foramen ovale, Neonatal death, Pulmonary arterial hypertension, Atri... OMIM:620244
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Recurrent pneumonia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia... ORPHA:508533
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Esophageal atresia, Anteriorly placed anus, Biliary atresia OMIM:615272
Absent Radius-Anogenital Anomalies Syndrome
Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula ORPHA:3016
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... OMIM:619991
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Atelectasis, Lymphopenia, Leukopenia, Le... ORPHA:319213
Vipoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating prolactin concentration, Abnor... ORPHA:97282
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Pleural... ORPHA:679
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Small for gesta... OMIM:613658
Neuroendocrine Tumor Of The Rectum
Hematochezia, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... ORPHA:100082
Huntington Disease-Like 2
Weight loss OMIM:606438
Bohring-Opitz Syndrome
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp... ORPHA:97297
Pseudoaminopterin Syndrome
Highly arched eyebrow, Cryptorchidism, Epicanthus, Blepharophimosis, Macrocephaly, Asplenia ORPHA:221120
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Viral hepatitis, Chronic lymphatic leukemia, Abnormality ... ORPHA:91139
Focal Myositis
Myositis, Weight loss ORPHA:48918
Cryptococcosis
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatitis, Perit... ORPHA:1546
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Skin rash ORPHA:220295
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol... ORPHA:90291
Proteus Syndrome
Pulmonary cyst, Thymus hyperplasia, Bronchogenic cyst, Abnormal lung lobation, Neoplasm of the th... ORPHA:744
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Ab... ORPHA:309854
Acute Lung Injury
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea... ORPHA:178320
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal aortic... ORPHA:581
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcino... ORPHA:144
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Cataract, Pterygium, Decreased testicular size, Pancytopenia, Leukop... OMIM:305000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Seborrheic dermatiti... OMIM:301072
Beta-Ketothiolase Deficiency
Hepatomegaly, Weight loss, Leukocytosis, Thrombocytosis ORPHA:134
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, High palate, Failure to thrive ORPHA:2135
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Pleural effusion, Splenomegaly, Weight loss... ORPHA:29073
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Stickler Syndrome
Bifid uvula, Gastroesophageal reflux, Slender build, Short hard palate, Cachexia, Osteoarthritis,... ORPHA:828
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Splenomegaly, Cryptorchidism, Microce... OMIM:249000
Giant Cell Arteritis
Hepatic failure, Gastrointestinal infarctions, Abnormal pleura morphology, Weight loss, Arthritis... ORPHA:397
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Gastroesophageal reflux, Small for gestational age ORPHA:79243
Behçet Disease
Acne, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Pleural effusion, Splenomegaly,... ORPHA:117
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Juvenile Huntington Disease
Weight loss ORPHA:248111
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Juvenile Neuronal Ceroid Lipofuscinosis
Dysphagia, Aspiration pneumonia ORPHA:79264
Microphthalmia, Syndromic 1
High, narrow palate, Pyloric stenosis, Recurrent otitis media, Cryptorchidism, Aganglionic megaco... OMIM:309800
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Cryptorchidism, High palate ORPHA:98905
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia ORPHA:1969
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po... ORPHA:447877
Solitary Fibrous Tumor
Neoplasm of the liver, Weight loss, Neoplasia of the pleura, Abnormal peritoneum morphology, Neop... ORPHA:2126
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Graves Disease
Weight loss, Goiter OMIM:275000
Huntington Disease
Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index ORPHA:399
Noonan Syndrome 7
Abnormal esophagus morphology, Large for gestational age, Dysphagia, Impaired oropharyngeal swall... OMIM:613706
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis ORPHA:70578
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hepatic sinusoidal dilatation, Atelectasis, Splenic cyst, Cryptorchidism, Decrease... OMIM:620371
Orofaciodigital Syndrome Type 4
High, narrow palate, Bifid uvula, Failure to thrive, Recurrent respiratory infections, Decreased ... ORPHA:2753
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Cataract OMIM:273395
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Failure to thrive, Aspiration pneumonia ORPHA:431361
Degcags Syndrome
Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Cryptorchidism, Protrud... OMIM:619488
Abetalipoproteinemia
Congestive heart failure, Myopathy, Cardiomegaly, Distal lower limb muscle weakness, Hepatomegaly ORPHA:14
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Iron deficiency anemia, Keratoconjunctivitis sicca, Weight los... ORPHA:309031
Marfan Syndrome
High, narrow palate, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Slender bu... ORPHA:558
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Decreased testicular size, Cryptorchidism ORPHA:1867
Benign Schwannoma
Abnormality of the liver, Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid g... ORPHA:252164
Diaphanospondylodysostosis
Abnormal liver lobulation, Enlarged kidney, Cleft palate, Pulmonary hypoplasia OMIM:608022
Central Diabetes Insipidus
Weight loss, Failure to thrive ORPHA:178029
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Pleural effusio... ORPHA:340
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract... ORPHA:60025
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... ORPHA:48435
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenomegaly, Skin rash, Ileitis... ORPHA:707
Peripheral Primitive Neuroectodermal Tumor
Weight loss, Pancreatitis, Anemia, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas ORPHA:370348
Microphthalmia With Linear Skin Defects Syndrome
Abnormal rectum morphology, Abnormality of the anus, Failure to thrive, Abnormal testis morphology ORPHA:2556
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Downslanted palpebral fissures, Large for gestational age, Transient neutropenia, Astig... ORPHA:500095
Hennekam Syndrome
Chylothorax, Erysipelas, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, ... ORPHA:2136
3-Methylglutaconic Aciduria, Type Viii
Cataract, Failure to thrive, Secondary microcephaly, Neonatal death, Neutropenia, Jaundice OMIM:617248
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma ORPHA:312
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Weight loss, Lupus nephritis, Lymphadenopathy, Thromb... ORPHA:536
Cornelia De Lange Syndrome 1
Pneumonia, High, narrow palate, Gastroesophageal reflux, Cryptorchidism, Otitis media, Hiatus her... OMIM:122470
Seckel Syndrome
Cachexia ORPHA:808
Ogden Syndrome
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... OMIM:300855
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contracture, Congestive heart fai... OMIM:256040
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myosi... ORPHA:51
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargem... ORPHA:79078
Wilson Disease
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Goiter OMIM:188580
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Abnormal pleura morphology, Recurrent aphthou... ORPHA:29207
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Weight loss ORPHA:3208
Neuroblastoma, Susceptibility To, 1
Anemia, Weight loss, Failure to thrive OMIM:256700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Right ventricular hypertrophy OMIM:253700
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumoniti... ORPHA:77293
Erdheim-Chester Disease
Osteomyelitis, Pleural effusion, Skin rash, Weight loss, Anemia, Abnormal pulmonary interstitial ... ORPHA:35687
Hypercalcemia, Infantile, 1
Weight loss, Failure to thrive OMIM:143880
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Failure to thrive, Adrenal hyperplasia, Jaundice, Macroorchidism ORPHA:90790
Bullous Pemphigoid
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis ORPHA:703
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Goiter OMIM:613239
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Neoplasm of the colon, Skin r... ORPHA:556
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... ORPHA:103918
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Ovarian cyst, Neoplasm of the rectum, Adenoma... ORPHA:454840
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Gastroesophageal reflux, Elevated circulating hepatic transaminas... ORPHA:73230
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Splenomegaly, Hepatomegaly, Macroglossia OMIM:253200
Pancreatoblastoma
Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology ORPHA:677
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250
Neuroblastoma
Anemia, Weight loss, Lymphadenopathy, Thrombocytopenia ORPHA:635
Acrodermatitis Enteropathica
Failure to thrive, Furrowed tongue, Pustule, Weight loss, Conjunctivitis, Glossitis, Cheilitis, B... ORPHA:37
Huntington Disease-Like 1
Weight loss ORPHA:157941
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Perry Syndrome
Weight loss ORPHA:178509
Gm1 Gangliosidosis Type 1
Macroglossia, Hepatosplenomegaly, Aspiration pneumonia ORPHA:79255
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Leukopenia, Abnormality ... ORPHA:84
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Mohr-Tranebjaerg Syndrome
Dysphagia, Aspiration pneumonia ORPHA:52368
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Pulmonary fibrosis, Weight loss, Neutropenia ORPHA:79430
Alpha-Mannosidosis, Infantile Form
Pneumonia, Hepatosplenomegaly, Pancytopenia, Otitis media, Recurrent gastroenteritis, Macroglossia ORPHA:309282
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina... ORPHA:51608
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Congenital diaphragmat... ORPHA:116
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Xerostomia, Oral-pharyngeal dysphagia... ORPHA:95455
Pemphigus Vulgaris
Weight loss, Recurrent cutaneous abscess formation ORPHA:704
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Iron deficiency anemia, Gastric ulcer, Esophageal ulceration OMIM:618372
8P23.1 Microdeletion Syndrome
Obesity, Cryptorchidism, Pulmonary artery stenosis, Weight loss, High palate ORPHA:251071
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Uveitis, Elevated circulating hepatic transaminase concent... ORPHA:99826
Parathyroid Carcinoma
Peptic ulcer, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, ... ORPHA:143
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Abno... ORPHA:99889
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Recurrent pneumonia, Bilateral cryptorchidism, High palate, Recurrent aspiration pne... OMIM:300472
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia ORPHA:53351
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Aspiration pneumonia, Leukocytosis, Thro... ORPHA:94093
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Failure to thrive, Anteriorly placed anus, Aspirati... OMIM:602535
Addison Disease
Normocytic anemia, Thymoma, Failure to thrive, Celiac disease, Thiamine-responsive megaloblastic ... ORPHA:85138
Mucolipidosis Type Ii
Hepatosplenomegaly, Splenomegaly, Otitis media, Left ventricular hypertrophy, Weight loss, Recurr... ORPHA:576
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Failure to thrive, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Recu... ORPHA:79404
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, High palate, Aspiration pneumonia ORPHA:314655
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Aspartylglucosaminuria
Cataract, Recurrent respiratory infections, Microcephaly, Neutropenia, Hepatomegaly, Vacuolated l... OMIM:208400
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Cleft palate, High palate OMIM:258865
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hamartoma of tongue, Absent gallbladder, Neonatal death, Anal atresia, Esophageal diverticulum, C... OMIM:617925
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary lymphangiectasia, Asplenia, Annular pancreas, Neonatal death OMIM:265380
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Anal stenosis, Gastroesophageal reflux, Rectovestibular fis... ORPHA:280633
Niemann-Pick Disease Type C
Hepatic failure, Aspiration pneumonia, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly... ORPHA:646
Fatal Familial Insomnia
Weight loss, Dysphagia OMIM:600072
Dermatomyositis
Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Heliotro... ORPHA:221
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid arthritis, Psoriasiform dermatitis, Hashimoto thyroiditis, Weight l... ORPHA:49041
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Granuloma, Respiratory tract infection, Infectious enc... ORPHA:68
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Ectopia pupillae, Recurrent otitis media, Secondary microcephaly, Cryptorchidism, Axenfeld anomal... ORPHA:261552
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Osteosarcoma
Weight loss ORPHA:668
Geleophysic Dysplasia 3
Pneumonia, Hepatomegaly OMIM:617809
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Skin rash, Myositis, Weight loss, Arthritis, Pulmonary fibrosis, Dys... ORPHA:93672
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cataract, Failure to thrive, Recurrent otitis media, Secondary microcephaly, Telecanthus, Cryptor... ORPHA:261537
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia, Esophageal varix OMIM:243910
Adrenocortical Carcinoma
Increased body weight, Adrenocorticotropic hormone deficiency, Weight loss, Lung adenocarcinoma ORPHA:1501
Liposarcoma
Weight loss ORPHA:69078
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri... ORPHA:397715
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Cryptorchidism, Recurrent aspiration pneumonia, Duodenal atresia, Cleft palate OMIM:247200
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Cholera
Achlorhydria, Miscarriage, Aspiration pneumonia ORPHA:173
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Aspiration pneumonia OMIM:616430
Glossopharyngeal Neuralgia
Weight loss, Odynophagia, Oral-pharyngeal dysphagia ORPHA:221098
Acute Adrenal Insufficiency
Normocytic anemia, Recurrent acute respiratory tract infection, Weight loss, Failure to thrive ORPHA:95409
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cholestasis, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Elevated circulating alanine... OMIM:619534
Mowat-Wilson Syndrome
Cataract, Horizontal eyebrow, Recurrent otitis media, Telecanthus, Cryptorchidism, Axenfeld anoma... ORPHA:2152
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Failure to thrive, Cryptorchidism, Weight loss, Testicular adrenal rest tumor ORPHA:361
Penile Agenesis
Anorectal anomaly, Bilateral lung agenesis, Cryptorchidism, Tracheoesophageal fistula, Rectal fis... ORPHA:49
African Trypanosomiasis
Myelitis, Keratitis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Optic neuritis, Jaundice, We... ORPHA:3385
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Weight loss, Intraalveolar phospholipid accumulation ORPHA:747
Familial Gestational Hyperthyroidism
Weight loss, Thyroid hyperplasia, Goiter ORPHA:99819
Cushing Disease
Lymphopenia, Leukocytosis, Adrenal hyperplasia, Increased body weight, Recurrent cutaneous fungal... ORPHA:96253
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Gastrointestinal hemorrhage, Hepatic failure, Tongue telangiectasia, Intestinal p... ORPHA:774
Opitz Gbbb Syndrome
Ankyloglossia, Cryptorchidism, Ectopic anus, Enlarged ovaries, Anal atresia, Tracheoesophageal fi... ORPHA:2745
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Gastroesophageal reflux, ... ORPHA:70
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Perry Syndrome
Weight loss OMIM:168605
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma ORPHA:276621
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Aspiration pneumonia, Weight loss, High palate, Recurrent respiratory infectio... ORPHA:2020
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Neoplasm of the pan... ORPHA:1359
Norrie Disease
Cachexia, Cryptorchidism, Failure to thrive ORPHA:649
Fontaine Progeroid Syndrome
High, narrow palate, Absent nipple, Gastroesophageal reflux, Failure to thrive, Anteriorly placed... OMIM:612289
Cystinosis, Nephropathic
Failure to thrive, Exocrine pancreatic insufficiency, Failure to thrive in infancy, Splenomegaly,... OMIM:219800
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Narrow palate, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Obe... ORPHA:353281
Alobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Failure to thrive, Aspiration pneumonia, Decreased response... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Failure to thrive, Aspiration pneumonia, Decreased response... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Failure to thrive, Aspiration pneumonia, Decreased response... ORPHA:93924
Semilobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Failure to thrive, Aspiration pneumonia, Decreased response... ORPHA:220386
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Short Syndrome
Weight loss ORPHA:3163
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Dysphagia, Intestinal pseudo-obstruction OMIM:607459
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Choreoacanthocytosis
Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Protruding tongue,... ORPHA:2388
Kabuki Syndrome 1
Anal stenosis, Anoperineal fistula, Recurrent otitis media, Intestinal malrotation, Cryptorchidis... OMIM:147920
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Tay-Sachs Disease
Dysphagia, Aspiration pneumonia ORPHA:845
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hepatomegal... ORPHA:394
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo... OMIM:233450
Isolated Permanent Neonatal Diabetes Mellitus
Reduced pancreatic beta cells, Weight loss, Pancreatic hypoplasia, Failure to thrive ORPHA:99885
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Small intestin... OMIM:619482
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma ORPHA:29072
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Hepatoblastoma, Cryptorchidism, Aspiration pneumonia ORPHA:1465
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S... ORPHA:91500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased response to growth hormone stimulation t... ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Narrow palate, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Obe... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Narrow palate, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Obe... ORPHA:353277
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Hereditary Late-Onset Parkinson Disease
Weight loss, Dysphagia ORPHA:411602
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Gastroesophageal reflux, Bilateral cryptorchidism, Recurrent otit... OMIM:616268
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Atopic dermatitis, Failure to thrive, Decreased response to growth hormone... OMIM:619503
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Dysphagia, Esophageal stenosis OMIM:615510
Adult-Onset Autosomal Dominant Leukodystrophy
Dysphagia, Aspiration pneumonia ORPHA:99027
Tsh-Secreting Pituitary Adenoma
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Goiter, Adren... ORPHA:91347
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Inc... ORPHA:79318
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Kindler Syndrome
Anal stenosis, Periodontitis, Oral leukoplakia, Dysphagia, Esophageal stenosis OMIM:173650
Hereditary Sensory And Autonomic Neuropathy Type 4
Septic arthritis, Fasciitis, Osteomyelitis, Abscess, Tooth abscess, Anemia, Recurrent aspiration ... ORPHA:642
Doors Syndrome
Narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Adrenal hyperplasia, Thrombocytosis... ORPHA:79500
Oculopharyngodistal Myopathy 1
High palate, Weight loss, Dysphagia OMIM:164310
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Increased circulating prolactin concentration, Aspiration pneumonia, Cry... ORPHA:438213
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect OMIM:617602
Sacral Defect With Anterior Meningocele
Rectal abscess OMIM:600145
Alström Syndrome
Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Glomer... ORPHA:64
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Decreased testicular size, Weight loss, Testicular adrenal rest tumor, Acne, M... ORPHA:90794
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Severe failure to thrive, Weight loss, Osteoarthritis, High palate ORPHA:740
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis, Weight loss ORPHA:3337
Yunis-Varon Syndrome
Absent nipple, Aspiration pneumonia, Failure to thrive in infancy, Cryptorchidism, Severe failure... OMIM:216340
Lafora Disease
Recurrent aspiration pneumonia, Hepatic failure ORPHA:501
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232

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 Abl1

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 Abl1.

No publications found that use IMPC mice or data for Abl1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Abl1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Abl1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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