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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
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous 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
Death in infancy, Cardiomegaly OMIM:227150
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 79
Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur... OMIM:619238
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 18
Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr... OMIM:615615
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Reticular Dysgenesis
Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Recurrent bacterial men... OMIM:300400
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-posi... OMIM:269840
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 19
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... OMIM:615617
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... OMIM:617514
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Severe cytomegalovirus infection, T l... OMIM:619313
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Int... ORPHA:424019
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T... OMIM:603554
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... ORPHA:397596
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, B lymph... OMIM:618987
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Chronic oral candidiasis, ... OMIM:615401
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Hypereosinophilia, Chronic tinea infection, Lymphadenopathy, C... OMIM:212050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... OMIM:615518
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron... OMIM:618108
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l... OMIM:619924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Absence of lymph node germinal center, Recurrent opportunistic infections, Recurrent... ORPHA:277
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Death in infancy, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left... OMIM:619424
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Hematochezia, Anemia, Decreased body weight, Stercoral ulcer ORPHA:209964
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of... OMIM:619126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... OMIM:601457
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal varix, Steatorrhea, Hepa... ORPHA:75233
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ... OMIM:242700
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vita... OMIM:219700
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Cernunnos-Xlf Deficiency
Microcephaly, Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infectio... ORPHA:169079
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re... ORPHA:93941
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... ORPHA:77297
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Volvulus,... OMIM:112200
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Chronic p... OMIM:618986
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplen... OMIM:618982
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... ORPHA:83469
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... ORPHA:83471
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Psoriasiform derma... OMIM:243150
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... OMIM:301082
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Recurrent infections, Lymphocytosis, Hepatomegaly OMIM:606445
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspne... OMIM:613490
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... OMIM:619773
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... ORPHA:2930
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral can... OMIM:615607
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Weight lo... ORPHA:33355
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Idiopathic Achalasia
Bronchitis, Wheezing, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Recurrent aspiratio... ORPHA:930
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Persistent EBV viremia, Absent circulati... OMIM:620282
Immunodeficiency 50
Recurrent respiratory infections, Lymphopenia, Eczema, Neutropenia OMIM:300988
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorch... OMIM:617053
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral in... ORPHA:169154
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... OMIM:613500
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Failure to thrive, Pneumonia, Eczema, Splenomegaly, Asthma, L... OMIM:607271
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Follicu... OMIM:619846
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... OMIM:618495
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy, A... ORPHA:42642
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Eczema, Oligoart... OMIM:619510
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy OMIM:617184
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Crypto... OMIM:612541
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne... ORPHA:37042
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tons... OMIM:616005
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjunctivitis, ... OMIM:612692
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... OMIM:613662
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... ORPHA:251380
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Immunodeficiency 9
Failure to thrive, Hypoplasia of the thymus, BCGitis, Recurrent infections OMIM:612782
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Primary microcephaly ORPHA:89844
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Recurrent infections, Lymphadenopathy, Hepatosplenomegaly, Red... OMIM:618261
Cystic Fibrosis
Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Meconium ileus, Reduc... ORPHA:586
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... ORPHA:1572
Immunodeficiency 68
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor... OMIM:612260
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension OMIM:619064
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Stillbirth, Lymphopenia, Malabsorption OMIM:152800
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... OMIM:614700
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Recurrent infections, Delayed puberty, Decreased bo... ORPHA:477814
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... OMIM:175200
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn... ORPHA:141152
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... OMIM:615285
Ataxia-Telangiectasia
Conjunctival telangiectasia, Failure to thrive, Diabetes mellitus, Female hypogonadism, Microceph... OMIM:208900
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... ORPHA:298
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Brushfield ... OMIM:214110
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Hepatomegaly, Portal ... ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss ORPHA:79238
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis jirovecii pneum... OMIM:301078
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A... OMIM:616100
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Atelectasis, Rectal prolapse, Recurrent pneumonia, Pyloric st... OMIM:613177
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... OMIM:617638
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosis, Peritonitis... ORPHA:90038
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the lung,... ORPHA:424016
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... ORPHA:3032
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P... ORPHA:436159
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... OMIM:619281
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Bronchiectasis, T lymp... OMIM:242860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Aniridia OMIM:602361
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Immunodeficiency 70
Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posi... OMIM:618969
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Lymphadenopathy, Recurrent bacterial infecti... OMIM:618048
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, A... ORPHA:79076
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali... ORPHA:2552
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Cataract, B lymphocytopenia, Microcephaly OMIM:619851
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Epicanthus, Eosinophilia, Recurrent infections, Thin eyebrow, Abnormally low T cell receptor exci... OMIM:618092
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Malabsorption, Splen... ORPHA:3452
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, D... OMIM:278000
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Myopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618237
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... ORPHA:443811
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Acitretin/Etretinate Embryopathy
Epicanthus, Hypoplasia of the thymus, Antecubital pterygium, Microcephaly ORPHA:40366
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... OMIM:619652
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Death in childhood OMIM:269920
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Splenomega... OMIM:618935
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Sepsis, Lymphadenopathy, Coom... OMIM:614034
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Miscarriage, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:86893
Mevalonic Aciduria
Splenomegaly, Cataract, Downslanted palpebral fissures, Microcephaly ORPHA:29
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Restrictive Dermopathy 2
Respiratory distress, Rectal prolapse, Gastroesophageal reflux OMIM:619793
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Asthma... ORPHA:2070
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Hamartom... ORPHA:251992
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia, Respiratory insufficiency ORPHA:157973
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... OMIM:300280
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... ORPHA:3392
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitat... OMIM:212140
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Cataract, Microcephaly, Neutropenia, Downslanted palpebral fiss... ORPHA:2643
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology ORPHA:2582
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia, Death in childhood OMIM:609528
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf... ORPHA:331235
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Recurrent otitis media OMIM:618948
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Epicanthus, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recur... OMIM:614069
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Invasive fungal infection, Increased T ce... ORPHA:98813
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Aspergillosis
Sinusitis, Neutropenia, Cough, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... ORPHA:1163
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Autoimmune ... OMIM:614162
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Hepatomegaly, Recurrent skin infections, Splenomegaly, Cleft pa... OMIM:620210
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse, Pulmonar... OMIM:235510
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal ... OMIM:601495
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect, Death in infancy OMIM:613730
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc... ORPHA:100083
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Esophageal stricture, Bronchiectasis, Cheilitis, Death in a... OMIM:615468
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Respiratory insufficiency, Weight loss, L... ORPHA:26790
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... OMIM:615952
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Crackles, Nonproductive cough, Leukocytosis, Atelectas... ORPHA:2902
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Cataract OMIM:204200
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis... ORPHA:39041
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid... ORPHA:235
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Splenomegaly, Respiratory insu... OMIM:609981
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Respiratory insufficiency, Narrow palate, Respiratory failure, Gastroesophageal reflux,... OMIM:618186
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Christianson Syndrome
Death in early adulthood, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Microcephaly, T lymphocytopenia, B lymphocytopenia, Recurrent lower respiratory tract infections,... OMIM:615966
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Neoplasm of the lung, Lymphadenopathy, Abnormal liver p... ORPHA:1332
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Hepatic fibrosi... OMIM:617341
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge... OMIM:608184
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Abnormal heart morphology, Small thenar eminence, Neonatal death OMIM:613390
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Pure red cell aplasia, Auto... OMIM:613179
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Recurrent ... ORPHA:84064
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Bone-marrow foa... ORPHA:275761
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ... ORPHA:398063
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Death in infancy, Sudden cardiac death, Cardiomega... OMIM:201475
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... ORPHA:54251
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem... OMIM:618999
Immunodeficiency 15B
Death in infancy, Monocytosis, Chronic oral candidiasis, Failure to thrive, Reduced natural kille... OMIM:615592
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial i... ORPHA:158048
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... ORPHA:906
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor... ORPHA:98850
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure ORPHA:75234
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Aredyld Syndrome
Splenomegaly, Cachexia, Hepatomegaly ORPHA:1133
Atelis Syndrome 1
Cataract, Hypothyroidism, Recurrent infections, Anemia, Leukopenia, Downslanted palpebral fissure... OMIM:620184
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Decreased liver function, He... ORPHA:42
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Miscarriage, Pneumonia, Productive cough, No... ORPHA:454836
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Hepatocellular carcinom... OMIM:300755
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... OMIM:240500
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
3-Methylglutaconic Aciduria Type 4
Cataract, Microcephaly, Failure to thrive, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... OMIM:235200
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... OMIM:266265
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Weight loss, Lymphadenopathy, B... ORPHA:391
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Dyspnea, ... ORPHA:139402
Moynahan Syndrome
Cachexia ORPHA:2574
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm... OMIM:308240
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... OMIM:269200
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy,... OMIM:612387
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Retinitis Pigmentosa 89
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... OMIM:618955
Renpenning Syndrome
Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia ORPHA:3242
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233710
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Pseudo-Torch Syndrome 3
Hypertension, Death in infancy, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Rec... OMIM:301045
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Riboflavin Transporter Deficiency
Cachexia, Respiratory insufficiency, Dysphagia ORPHA:97229
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... ORPHA:44890
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gland, Abnormal pupil ... ORPHA:2969
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Sepsis, He... ORPHA:70475
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus,... ORPHA:436252
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233690
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis... ORPHA:67
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Weight loss, Ir... OMIM:301074
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... ORPHA:1302
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Upslanted palpebral fis... OMIM:617237
Mevalonic Aciduria
Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Fluctuating splenomegaly, ... OMIM:610377
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Tracheoesophageal fistula, Dysphagia, St... ORPHA:142
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious ... ORPHA:1304
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Abnormality of... ORPHA:33276
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni... OMIM:301080
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Epicanthus, Pancytopenia, Leukemia, Decreased CD4:CD8 ratio OMIM:614038
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Microcephaly, Splenomegaly, Jaundice, Anemia, Aplasia/Hy... ORPHA:290
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi... ORPHA:391487
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, P... OMIM:619381
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Neonatal death, Blepharophimosis, Hypoplastic spleen OMIM:601186
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, S... OMIM:617591
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect... ORPHA:79128
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Hemochromatosis, Type 3
Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Rhabdoid Tumor
Respiratory insufficiency, Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocy... ORPHA:69077
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candi... OMIM:610163
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cataract, Decreased circulatin... OMIM:240300
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Cataract, Bilateral cryptorchidism, Recurrent infections, Developmental cataract, Ne... OMIM:616395
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... OMIM:614868
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Cryptorchidism, Megarectu... OMIM:301056
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp... ORPHA:293978
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Epicanthus, Chronic oral candidiasis, Decreased CD4... OMIM:608233
Cystic Echinococcosis
Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ... ORPHA:400
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... OMIM:618223
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Atopic dermatitis, Anteriorly placed anus,... OMIM:618624
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... OMIM:617780
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Cataract, Recurrent infections, Type I diabetes mellitus, Failure to ... ORPHA:251009
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Microlissencephaly
Pneumonia ORPHA:1083
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Galactokinase Deficiency
Hepatomegaly, Cataract, Small for gestational age, Hypergonadotropic hypogonadism, Microcephaly, ... ORPHA:79237
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Restrictive ventilatory defect, Bone marrow hypocellularity, Pulmonary fibrosis, Ab... OMIM:619767
Graft Versus Host Disease
Elevated hepatic transaminase, Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ... ORPHA:90362
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Cardiomegaly, Hypertension, Death in childhood, Pulmonary arterial hypertension OMIM:613320
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... ORPHA:647
Lethal Congenital Contracture Syndrome 10
Downslanted palpebral fissures, Hypoplasia of the thymus OMIM:617022
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, Atelectasis... OMIM:620233
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... ORPHA:2357
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Q Fever
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... ORPHA:781
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Weight... ORPHA:90060
Immunodeficiency 44
Lymphopenia, Elevated circulating alanine aminotransferase concentration OMIM:616636
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Digeorge Syndrome
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepat... OMIM:188400
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Vici Syndrome
Recurrent respiratory infections, Epicanthus, Failure to thrive, Cataract, Microcephaly, Recurren... OMIM:242840
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Colitis, Bone marrow hypocellularity, Esophageal stenosis OMIM:615190
Alpha-Mannosidosis
Hepatomegaly, Recurrent respiratory infections, Cataract, Corneal opacity, Splenomegaly, Type II ... ORPHA:61
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomati... ORPHA:2688
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Hepatosplenomegaly, Respiratory failure, Dyspha... ORPHA:2590
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Microcephaly, Cryptorc... OMIM:620005
Treacher-Collins Syndrome
Cataract, Absent eyelashes, Cryptorchidism, Blepharospasm, Eyelid coloboma, Abnormality of the ad... ORPHA:861
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Rec... OMIM:266600
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Death in early adulthood, Intestinal pseudo-obstruction, Cachexia, Malabsorp... OMIM:603041
Sandhoff Disease
Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly... ORPHA:2072
Ataxia-Telangiectasia
Elevated hepatic transaminase, Recurrent respiratory infections, Lymphopenia, Abnormal testis mor... ORPHA:100
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... ORPHA:760
Glycogen Storage Disease Iv
Failure to thrive, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cirrhosis, Hepatic ... OMIM:232500
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Epicanthus, Cataract, Microcephaly, Upslanted palpebral fissure, Iron deficiency an... OMIM:607906
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,... OMIM:301081
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Death in infancy OMIM:618839
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Gaucher Disease, Type Ii
Death in infancy, Hepatomegaly, Apnea, Splenomegaly, Dysphagia, Anemia, Stridor, Gastroesophageal... OMIM:230900
Shigellosis
Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Intestinal perforation, Myocardi... ORPHA:810
Immunodeficiency 56
Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiect... OMIM:615207
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... ORPHA:811
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Functional intestinal obstruction, Inte... ORPHA:1333
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... ORPHA:90117
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Legionnaires Disease
Pericarditis, Abnormal pleura morphology, Splenomegaly, Abnormal lung morphology, Recurrent phary... ORPHA:549
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy OMIM:618835
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai... OMIM:615816
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leuk... ORPHA:508542
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Malabsorption ORPHA:1116
Bloom Syndrome
Bronchitis, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased proportion ... ORPHA:125
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss, High palate, Decreased intestinal transit time OMIM:620045
Leprechaunism
Hepatomegaly, Enlarged ovaries, Rectal prolapse, Megarectum, Decreased body weight, Failure to th... ORPHA:508
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Recurrent infections, I... OMIM:619774
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hepatic cysts, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Es... OMIM:263200
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Cachexia, Failure to thrive in infancy, Respiratory insufficiency ORPHA:702
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Cataract, Small for gestational age, Hypergonadotropic hypogonadism, Mi... ORPHA:2959
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Leukopenia, Hepatic fibrosis, Bone marrow hy... OMIM:613989
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Portal hype... ORPHA:367
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Hypoplasia of the thymus, Hypothyroidism, Hypoparathyroidism, Hyperth... ORPHA:567
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Dysphagia, Aspiratio... OMIM:618253
Eec Syndrome
Entropion, Decreased response to growth hormone stimulation test, Sparse eyebrow, Keratitis, Corn... ORPHA:1896
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Death in infancy, Pancytopenia, Hepatomegaly, Splenomegaly, Esopha... OMIM:614576
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Weight loss, Cough... ORPHA:188
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen... ORPHA:2538
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph... ORPHA:2032
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo... ORPHA:97287
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Supernumerary nipple, Cachexia, Cryptorchidism, Failure to thrive ORPHA:217346
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Recurrent infections, Hepatosplenomegaly, Recurrent gast... ORPHA:309288
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Failure to thrive in infancy, Microcytic anemia, Hepatic steatosis, Pancr... OMIM:618805
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Failure to thrive, Skin rash, Follicular hyperplasia,... OMIM:615934
Cardiofacioneurodevelopmental Syndrome
Microcephaly, Asplenia, Cryptorchidism, Upslanted palpebral fissure, Abdominal situs inversus OMIM:619123
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive ... ORPHA:465508
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, High palate, Re... OMIM:605309
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T... ORPHA:169090
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdom... OMIM:614921
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Lynch Syndrome
Intestinal polyposis, Death in infancy, Death in early adulthood, Gastrointestinal hemorrhage, Pa... ORPHA:144
Meacham Syndrome
Death in infancy, Stillbirth, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricu... OMIM:608978
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Leukocytosis, Weight loss... ORPHA:520
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Eczema, Rectal prolapse, Obesity, Pseudohypoparathyroidism, Gastroesophageal reflux, High palate,... OMIM:617157
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Protruding tongue, Malabsorption, M... ORPHA:2268
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia OMIM:619057
Nephroblastoma
Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy, Weight loss ORPHA:654
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Cataract, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Rett Syndrome
Gastroesophageal reflux, Apnea, Cachexia, Intermittent hyperventilation OMIM:312750
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo... ORPHA:99867
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Hepatomegaly, Respiratory insufficiency, Weight loss, Failure t... ORPHA:1842
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Meningitis, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lympha... OMIM:617718
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Eosino... ORPHA:183
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Acute hepati... ORPHA:537
Pseudo-Torch Syndrome 1
Hepatomegaly, Cataract, Microcephaly, Splenomegaly, Jaundice, Opacification of the corneal stroma... OMIM:251290
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increas... OMIM:127550
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... ORPHA:388
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increased proportion o... OMIM:617099
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Dys... ORPHA:319218
Multiple Sulfatase Deficiency
Hepatomegaly, Cataract, Corneal opacity, Microcephaly, Splenomegaly, Macrocephaly, Thick eyebrow ORPHA:585
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Hepatosplenom... OMIM:615688
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... OMIM:181000
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, F... ORPHA:160
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Death in infancy, Giant cell hepatitis, Small for gestational age,... OMIM:208085
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Epicanthus, Recurrent urinary tract inf... OMIM:251260
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Lacrimal duct stenosis, Palpebral edema, Recurrent ear infect... ORPHA:221139
Fraser Syndrome 2
Hypoplasia of the thymus, Cryptophthalmos OMIM:617666
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Helicobacter pylori infe... OMIM:618131
Wiedemann-Rautenstrauch Syndrome
Absent eyebrow, Recurrent respiratory infections, Entropion, Sparse eyelashes, Small for gestatio... OMIM:264090
Takayasu Arteritis
Increased inflammatory response, Weight loss, Arthritis, Gastrointestinal infarctions, Pulmonary ... ORPHA:3287
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Ar... ORPHA:247353
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit... ORPHA:797
Monosomy 22
Epicanthus, Aplasia of the thymus, Microcephaly, Synophrys, Hypochromic microcytic anemia, Hepato... ORPHA:96123
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ... ORPHA:324964
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Po... ORPHA:729
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Hypoperis... ORPHA:1018
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Gastroesophageal reflux, Decreas... ORPHA:813
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy ORPHA:99978
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thromboc... OMIM:620365
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Infantile Krabbe Disease
Respiratory distress, Cachexia, Respiratory failure, Gastroesophageal reflux, Failure to thrive ORPHA:206436
Congenital Tracheomalacia
Apnea, Cardiomegaly, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, N... ORPHA:95430
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Familial Thrombocytosis
Acute myeloid leukemia, Miscarriage, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pul... ORPHA:71493
Williams Syndrome
Colonic diverticula, Death in early adulthood, Recurrent respiratory infections, Failure to thriv... ORPHA:904
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukope... OMIM:603467
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Recurrent infections, Ly... OMIM:258360
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... ORPHA:79126
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... OMIM:614008
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Hepatic stea... ORPHA:101330
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Cowden Syndrome 1
Hyperthyroidism, Cataract, Progressive macrocephaly, Thyroiditis, Recurrent infections, Hydrocele... OMIM:158350
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, D... OMIM:617092
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal ... ORPHA:85450
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia OMIM:616553
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Abnormality of the pancre... ORPHA:935
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Pustule, Wheezing, Recurrent tonsillitis, Atopic der... ORPHA:171876
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Malignant Peritoneal Mesothelioma
Dyspnea, Peritonitis, Ileus, Weight loss ORPHA:168811
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... OMIM:607944
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Lymphadenopath... ORPHA:50918
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... OMIM:116920
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Per... ORPHA:79242
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Eso... ORPHA:264580
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Death in infancy, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiom... OMIM:608836
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Co... ORPHA:73263
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Asthma, Hypereosinophilia, Weight loss ORPHA:449400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Epicanthus, Cataract, Small for gestational age, Microcephaly, Recurrent infections, Neutropenia,... OMIM:615471
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Acute ly... ORPHA:524
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Microcephaly, Jaundice, Hepatosplenomegaly, Recurrent inf... ORPHA:168577
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss ORPHA:160148
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Elevated he... ORPHA:36426
Immunodeficiency 22
Pericarditis, Abscess, Recurrent upper respiratory tract infections, Anemia, Panniculitis, Chroni... OMIM:615758
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
3-Methylglutaconic Aciduria, Type Viib
Cataract, Microcephaly, Recurrent pneumonia, Recurrent infections, Leukopenia, Zonular cataract, ... OMIM:616271
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Epicanthus, Pancytopenia, Telecanthus, Cataract, Microcephaly, Cryptorchidism, Blepharophimosis, ... ORPHA:85321
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mult... OMIM:608013
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... ORPHA:109
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Transposition of the great arteries, Neonatal death, Atrioventricular canal defect,... OMIM:314390
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hepatomegal... OMIM:615846
Thymic Carcinoma
Neoplasm of the thymus, Dyspnea, Mediastinal lymphadenopathy, Weight loss, Cough ORPHA:99868
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... ORPHA:974
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Aganglionic megacolon, Cleft palate, Abnormal rectum morphology OMIM:239300
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, High palate, Obesity, Cachexia ORPHA:85293
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Dys... ORPHA:284
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia ORPHA:1328
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mosaic Trisomy 9
Corneal opacity, Microcephaly, Asplenia, Cryptorchidism, Upslanted palpebral fissure, Abnormal li... ORPHA:99776
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia ORPHA:300605
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Microcephaly, Splenomegaly, Jaundice, Nuclear cataract,... OMIM:608885
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Recurrent aspiration pneumonia OMIM:619971
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Discoid lupus rash, Dyspnea, Mala... ORPHA:93552
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Death in infancy, Eosinophilia, Hepatic cysts, Erythroderma, Lymphopenia, Anal atresia OMIM:617425
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... ORPHA:662
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... ORPHA:2463
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... ORPHA:440437
Lathosterolosis
Hepatomegaly, Epicanthus, Cataract, Microcephaly, Intrahepatic cholestasis, Anisopoikilocytosis, ... ORPHA:46059
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Hepatic steatosis, Decreased proportion of CD4-positive T ce... OMIM:619573
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Asthma, Pleural thickening, Bronchiectasis, Hypochromic microcytic anemia, Crohn... OMIM:619632
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Blepharophimosis, Thymus hyperplasia OMIM:619036
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Cataract, Neutropenia, Bone marrow hypocellularity, Infection associated neutr... ORPHA:445038
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm, Macroglossia, Weight loss, Glossitis ORPHA:2221
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Feingold Syndrome 1
Accessory spleen, Epicanthus, Microcephaly, Asplenia, Upslanted palpebral fissure, Narrow palpebr... OMIM:164280
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Inflammation of the large intestine, Absent microvilli on the surface of ... OMIM:301000
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Xerostomia, Weight loss, A... OMIM:617321
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Enlarged polycystic ovaries, ... ORPHA:2298
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Cataract, Megaloblastic anemia, Hypo... OMIM:222300
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract ORPHA:454831
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Failure to thrive, Cachexia, Death in adolescence OMIM:610965
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia, Microcephaly OMIM:605376
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Plummer-Vinson Syndrome
Tongue atrophy, Cheilitis, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web,... ORPHA:54028
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Minimal change glomerulonephritis, Thrombocytopenia... ORPHA:1830
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Conjunct... OMIM:226600
Williams-Beuren Syndrome
Colonic diverticula, Failure to thrive in infancy, Portal hypertension, Celiac disease, Rectal pr... OMIM:194050
Trisomy 18
Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Anal atresia ORPHA:3380
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... OMIM:619708
Coffin-Lowry Syndrome
Rectal prolapse, High palate, Narrow palate, Decreased body weight OMIM:303600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa... ORPHA:26793
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... ORPHA:365
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Celiac disease, Thyroiditis, Weight los... OMIM:212750
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... OMIM:115470
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, ... OMIM:619487
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Malabs... ORPHA:97282
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix,... OMIM:216360
Glucagonoma
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Elevated circulating growth hormone concentr... ORPHA:97280
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stric... ORPHA:89842
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Grfoma
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... ORPHA:97261
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor... ORPHA:420741
Agel Amyloidosis
Cataract, Bilateral ptosis, Keratoconjunctivitis sicca, Abnormal spleen morphology, Blepharochala... ORPHA:85448
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Microcephaly, Microcornea, Stillbirth, Peters anomaly, ... OMIM:243605
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90363
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Al Amyloidosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Howell-Joll... ORPHA:85443
Erythrokeratodermia Variabilis
Abnormal testis morphology, Skin rash, Weight loss ORPHA:317
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Elev... ORPHA:97283
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splen... OMIM:613471
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal pulmonary interstitial morpholo... ORPHA:732
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hypoxemia... ORPHA:456312
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Superficial derm... ORPHA:83617
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obesity, Hypoplasia of th... ORPHA:66628
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym... OMIM:617827
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Schwartz-Jampel Syndrome
Death in infancy, Apnea, Cachexia, Cleft palate, Respiratory insufficiency, High palate, Testicul... ORPHA:800
Chronic Hiccup
Weight loss ORPHA:396
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Loeffler Endocarditis
Pericarditis, Eosinophilia, Dyspnea, Weight loss, Cough, Left ventricular hypertrophy ORPHA:75566
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism, Upper eyelid coloboma OMIM:617746
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... OMIM:250250
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Chronic pulmonary obstructi... ORPHA:900
Meckel Syndrome
Accessory spleen, Cataract, Pancreatic fibrosis, Sclerocornea, Microcephaly, Asplenia, Cryptorchi... ORPHA:564
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Hepatosplenomegaly, Syno... ORPHA:85408
Classical Ehlers-Danlos Syndrome
Osteoarthritis, Rectal prolapse, Gastroesophageal reflux, Hiatus hernia ORPHA:287
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit... OMIM:224230
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obesity, Hypoplasia of th... ORPHA:179494
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... ORPHA:100080
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Abnormal lung morphology, Weight loss, P... ORPHA:767
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Telecanthus, Cataract, Pulmonary lymphangiectasia, Ptosis OMIM:247410
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Chronic Graft Versus Host Disease
Fasciitis, Xerostomia, Gastroesophageal reflux, Cough, Bronchiectasis, Abnormal esophagus physiol... ORPHA:99921
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Leukocytosis, Tachypnea, ... ORPHA:20
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, Ga... ORPHA:354
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Isaacs Syndrome
Weight loss ORPHA:84142
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Celiac disease, Pituitary... ORPHA:199299
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Alg12-Cdg
Recurrent respiratory infections, Epicanthus, Decreased serum insulin-like growth factor 1, Recur... ORPHA:79324
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Morbilliform ra... ORPHA:228123
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly ORPHA:96191
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Respiratory tract infection, Dyspnea, ... ORPHA:544482
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Hematemesis, ... ORPHA:100075
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Cirrhosis, Familial
Fulminant hepatitis, Jaundice, Esophageal varix, Micronodular cirrhosis, Biliary cirrhosis, Cirrh... OMIM:215600
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, High palate, Gastroesophageal reflux, Cough, Emphysema, Hepatic steatosis, Portal hype... OMIM:613658
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... ORPHA:913
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Elev... ORPHA:97278
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Esophageal stenosis, Ab... ORPHA:1775
Lujo Hemorrhagic Fever
Respiratory distress, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Crackles... ORPHA:319213
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia, Aspiration pneumonia, Cough ORPHA:216866
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Gastrointes... ORPHA:100078
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Wild Type Attr Amyloidosis
Hepatomegaly, Gastrointestinal dysmotility, Abnormal pulmonary interstitial morphology, Weight lo... ORPHA:330001
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... OMIM:130650
Chops Syndrome
Cataract, Microcephaly, Splenomegaly, Synophrys, Cryptorchidism, Obesity, Long eyelashes, Thick e... OMIM:616368
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... ORPHA:100082
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Death in childhood OMIM:618278
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Abnormality of neutrophils, Ocular albinism, Hypochromic anemia, Iris hypopigmentation ORPHA:2720
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia OMIM:230000
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss... ORPHA:679
Orofaciodigital Syndrome Viii
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Behçet Disease
Myositis, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar optic neuritis, Lymphade... ORPHA:117
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Congestive heart... OMIM:252500
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... ORPHA:1855
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Tachypnea, Weight loss, Cough, Thrombocytosis ORPHA:134
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Aspiration pneumonia,... ORPHA:99772
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Splenomegaly, Cryptorchidism, Keratoconjun... ORPHA:191
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Ost... ORPHA:90291
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Malt Lymphoma
Recurrent respiratory infections, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Post... ORPHA:52417
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Epicanthus, Absent nipple, Aplasia of the thymus, Sparse eyebro... OMIM:620186
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... ORPHA:508533
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Biliary atresia, Bone marrow hypocellularity OMIM:615272
Malakoplakia
Inflammatory abnormality of the skin, Neoplasm of the colon, Skin rash, Follicular hyperplasia, O... ORPHA:556
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Dyspnea, Abnormal T cell morph... OMIM:242900
Lymphatic Malformation 13
Mitral regurgitation, Neonatal death, Atrial septal defect, Pulmonary arterial hypertension, Pate... OMIM:620244
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Epistaxis, Glomerulonephritis, He... ORPHA:340
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Viral hepatitis, Pericarditis, Membranoproliferative g... ORPHA:91139
Lathosterolosis
Epicanthus, Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Micro... OMIM:607330
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Weight loss, Lymphadenopathy, Restrictive venti... ORPHA:2905
Huntington Disease-Like 2
Weight loss OMIM:606438
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia ORPHA:79264
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Pseudoaminopterin Syndrome
Epicanthus, Highly arched eyebrow, Asplenia, Cryptorchidism, Macrocephaly, Blepharophimosis ORPHA:221120
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Cholecystitis, Sialadeniti... ORPHA:449395
Diaphanospondylodysostosis
Respiratory distress, Cleft palate, Respiratory insufficiency, Abnormal liver lobulation, Pulmona... OMIM:608022
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Epistaxis, Portal hypertension, Pulmonary embo... ORPHA:774
Focal Myositis
Myositis, Weight loss ORPHA:48918
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Hennekam-Beemer Syndrome
Pneumonia, Respiratory insufficiency, High palate, Mastocytosis, Failure to thrive ORPHA:2135
Proteus Syndrome
Thymus hyperplasia, Cachexia, Pulmonary embolism, Enlarged polycystic ovaries, Splenomegaly, Lymp... ORPHA:744
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, C... ORPHA:454840
Giant Cell Arteritis
Pericarditis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Mediastinal lymphaden... ORPHA:397
Wilson Disease
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Elevated circulating a... OMIM:277900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir... OMIM:301072
Stickler Syndrome
Recurrent respiratory infections, Slender build, Cachexia, Osteoarthritis, Uveitis, Cleft palate,... ORPHA:828
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... OMIM:619488
Marfan Syndrome
Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, High, narrow palate, Emphysema, Cleft p... ORPHA:558
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... ORPHA:581
Hennekam Syndrome
Recurrent respiratory infections, Malabsorption, Splenomegaly, Pyloric stenosis, Pulmonary lympha... ORPHA:2136
Meckel Syndrome, Type 1
Accessory spleen, Adrenal hypoplasia, Microcephaly, Asplenia, Splenomegaly, Cryptorchidism, Malfo... OMIM:249000
Multiple Myeloma
Splenomegaly, Functional abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy,... ORPHA:29073
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Microphthalmia, Syndromic 1
Aganglionic megacolon, Microcephaly, High, narrow palate, Rectal prolapse, Pyloric stenosis, High... OMIM:309800
Acrodermatitis Enteropathica
Glossitis, Malabsorption, Pustule, Cheilitis, Furrowed tongue, Weight loss, Conjunctivitis, Failu... ORPHA:37
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Cataract OMIM:273395
Graves Disease, Susceptibility To, 1
Goiter, Weight loss OMIM:275000
Juvenile Huntington Disease
Weight loss ORPHA:248111
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Sparse eyelashes, Microcephaly, Cryptorchidism, A... OMIM:305000
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia ORPHA:1969
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Abnormal rectum morphology, Failure to thrive... ORPHA:2556
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Large for gestational age, Abnormal esophagus morphology... OMIM:613706
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Malabsorption, Dyspnea, Weight loss, Pulmonary fibrosis, ... ORPHA:79430
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Neoplas... ORPHA:2126
Huntington Disease
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine p... ORPHA:309031
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Weight loss, Ovarian neoplasm, Pancreatitis, Anemia ORPHA:370348
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness ORPHA:14
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy OMIM:253700
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth... ORPHA:29207
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Pneumonia ORPHA:1867
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Dyspnea, Abnormal pulmonary interstitial morp... ORPHA:35687
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma ORPHA:312
3-Methylglutaconic Aciduria, Type Viii
Cataract, Jaundice, Secondary microcephaly, Neutropenia, Neonatal death, Failure to thrive OMIM:617248
Seckel Syndrome
Cachexia ORPHA:808
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... ORPHA:747
Cornelia De Lange Syndrome 1
Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Cryptorchi... OMIM:122470
Orofaciodigital Syndrome Type 4
Decreased testicular size, Recurrent respiratory infections, Monorchism, High, narrow palate, Sub... ORPHA:2753
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Epicanthus, Transient neutropenia, Cataract, Chronic neutropenia, Large for gestational age, Asti... ORPHA:500095
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... ORPHA:51
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Enlarged lacrimal glands, Weight los... ORPHA:79078
Plague
Respiratory distress, Chapped lip, Hepatomegaly, Glossitis, Skin rash, Erythema nodosum, Splenome... ORPHA:707
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss OMIM:188580
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Conge... OMIM:256040
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Ogden Syndrome
Torticollis, Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventr... OMIM:300855
Perry Syndrome
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest OMIM:168605
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Weight loss ORPHA:3208
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ... OMIM:253200
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia ORPHA:314655
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Pneumonia, Jaundice, Macroorchidism, Failure to thrive ORPHA:90790
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Weight loss OMIM:613239
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Oromandibular Dystonia
Respiratory distress, Weight loss, Dysphagia ORPHA:93958
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Esophageal stricture, Pneumo... ORPHA:79404
Fatal Familial Insomnia
Weight loss, Apnea, Dysphagia OMIM:600072
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Gastrointestinal ... ORPHA:221
Huntington Disease-Like 1
Weight loss ORPHA:157941
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastroesophageal reflux, Hepatic hemangioma, Dysphag... ORPHA:73230
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Splenomegal... ORPHA:576
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Aplasia/Hypoplasia of the uvul... ORPHA:84
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Dyspnea, Dysphagia, Weight loss, ... ORPHA:93672
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Pneumonia, Hepatosplenomegaly, Macroglossia, Otitis media, Recurrent gastroenteritis ORPHA:309282
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Dysphagia ORPHA:52368
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Lymphopenia, Reticulocytosis, Pericarditis, Maculopapu... ORPHA:99826
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... ORPHA:51608
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly OMIM:617809
Gm1 Gangliosidosis Type 1
Macroglossia, Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S... ORPHA:116
Marshall-Smith Syndrome
Failure to thrive, Apnea, Bilateral cryptorchidism, Pyloric stenosis, Cryptorchidism, Recurrent u... OMIM:602535
Isotretinoin-Like Syndrome
Cleft palate, Lymphopenia, Gastroesophageal reflux, Abnormality of the pulmonary veins ORPHA:2306
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Ne... ORPHA:99889
Arima Syndrome
Hepatomegaly, Dyspnea, Tachypnea, Esophageal varix, Hepatic fibrosis, Cirrhosis, Hepatic steatosi... OMIM:243910
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Pancreatoblastoma
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Dysphagia,... ORPHA:94093
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm... ORPHA:143
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaundice, Respirato... ORPHA:646
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal atresia, Anal stenosis, Hydrocele testis, Rectovestibular fistula, High palate, Gastroesopha... ORPHA:280633
8P23.1 Microdeletion Syndrome
Cryptorchidism, Pulmonary artery stenosis, Obesity, Weight loss, High palate ORPHA:251071
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Cataract, Microcephaly, Vacuolated lymphocytes, N... OMIM:208400
Addison Disease
Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Celiac disease, Thiamine-respo... ORPHA:85138
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Tay-Sachs Disease
Dysphagia, Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-Ellison synd... ORPHA:652
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I... ORPHA:68
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia, Neonatal death OMIM:265380
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Pulmonary hypopla... OMIM:617925
Cholera
Miscarriage, Achlorhydria, Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, High palate, Recurrent aspiration pneumonia, Bifid... OMIM:300472
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Supernumerary nipple, Tac... ORPHA:397715
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Wei... ORPHA:49041
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, ... ORPHA:1359
Orofaciodigital Syndrome Ix
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:258865
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... ORPHA:252164
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Abnormal pupil morphology, Microcornea, Iris coloboma, Iris atrophy, Highly arched eyeb... ORPHA:261552
Osteosarcoma
Weight loss ORPHA:668
Goodpasture Syndrome
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh... OMIM:233450
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss ORPHA:424
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Telecanthus, Cataract, Asplenia, Cryptorchidism, Recurrent infections, Hydrocele testis, Astigmat... ORPHA:261537
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Gastroesophageal reflux, Hepatic fibrosis, Neonatal death, Intrahe... OMIM:619534
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Small intestinal dysmotility, Hypopnea, Restrictive ventilatory defect, G... OMIM:619482
Liposarcoma
Weight loss ORPHA:69078
Adrenocortical Carcinoma
Increased body weight, Lung adenocarcinoma, Adrenocorticotropic hormone deficiency, Weight loss ORPHA:1501
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Glossopharyngeal Neuralgia
Odynophagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Aspiration pneumonia OMIM:616430
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Weight loss, Recurrent acute respiratory tract infection ORPHA:95409
African Trypanosomiasis
Hepatomegaly, Pericarditis, Miscarriage, Keratitis, Splenomegaly, Myocarditis, Jaundice, Hepatosp... ORPHA:3385
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Cleft palate, Failure to thrive, Recurrent aspiration pneumonia, Duodenal atresia OMIM:247200
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Cleft palate, Bifid uvula, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Cleft palate, Bifid uvula, ... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Cleft palate, Bifid uvula, ... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Cleft palate, Bifid uvula, ... ORPHA:220386
Opitz Gbbb Syndrome
Enlarged ovaries, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Stridor, Ankyloglossia... ORPHA:2745
Mowat-Wilson Syndrome
Telecanthus, Cataract, Microcephaly, Asplenia, Cryptorchidism, Recurrent infections, Hydrocele te... ORPHA:2152
Cushing Disease
Adrenal hyperplasia, Acne, Pituitary corticotropic cell adenoma, Leukocytosis, Increased body wei... ORPHA:96253
Penile Agenesis
Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Bilateral lung agen... ORPHA:49
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Weight loss ORPHA:99819
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Intestinal pseudo-obstruction, Respiratory insufficiency, Dysphagia OMIM:607459
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Eso... ORPHA:394
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Familial Glucocorticoid Deficiency
Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive ORPHA:361
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Fontaine Progeroid Syndrome
Death in infancy, Failure to thrive, Absent nipple, Small for gestational age, Protruding tongue,... OMIM:612289
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss ORPHA:276621
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Intestinal malrotation, Cryptorchidism, Asthma, Obes... ORPHA:353281
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia ORPHA:649
Cystinosis, Nephropathic
Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Weight loss,... OMIM:219800
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Asthma, Obesity, Glossoptosis, Macroglossi... ORPHA:444077
Short Syndrome
Weight loss ORPHA:3163
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Achalasia, Esophageal stenosis, Dysphagia OMIM:615510
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Intestinal malrotation, Autoimmune thrombocytopenia, Malabsorpti... OMIM:147920
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, A... ORPHA:2388
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Intestinal malrotation, Cryptorchidism, Asthma, Obes... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Intestinal malrotation, Cryptorchidism, Asthma, Obes... ORPHA:353277
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, High palate, Chronic otitis media, ... OMIM:619503
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, W... ORPHA:91500
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss ORPHA:29072
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss ORPHA:99885
Hereditary Late-Onset Parkinson Disease
Weight loss, Dysphagia ORPHA:411602
Coffin-Siris Syndrome
Hepatoblastoma, Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Pmm2-Cdg
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Elevated circulating growth ho... ORPHA:79318
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... ORPHA:91347
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia, Dysphagia ORPHA:99027
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Periodontitis, Dysphagia, Oral leukoplakia OMIM:173650
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Abnormality of the anterior pitu... ORPHA:438213
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... ORPHA:64
Sacral Defect With Anterior Meningocele
Rectal abscess OMIM:600145
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Narrow palate, Cleft palate, High palate, Gastroesopha... ORPHA:79500
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Aplasia of the sweat glands, Dysphagia, Septic arthritis, Recu... ORPHA:642
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Obesity, Weight loss ORPHA:79102
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Acne, Testicular adrenal rest tumor, Weight loss, Hypocapnia, Failure to thrive, Dec... ORPHA:90794
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Upper airway obstruction, Weight loss, High palate, Severe failure to thrive, Pul... ORPHA:740
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis, Weight loss ORPHA:3337
Yunis-Varon Syndrome
Absent nipple, Small for gestational age, Failure to thrive in infancy, Pyloric stenosis, Cryptor... OMIM:216340
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous 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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