Gene Summary

Name:
feline sarcoma oncogene
Synonyms:
c-fes

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Human diseases caused by Fes mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Sepsis... OMIM:267500
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent respiratory infect... OMIM:616022
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... OMIM:614470
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Meningitis, Neutropenia, Ane... OMIM:616740
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Meningitis, ... OMIM:601457
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia, Recurrent bacterial infections, Recurrent can... OMIM:242870
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Pneumonia, Decreased cir... OMIM:300400
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent viral infections, Recurrent ear infections, Recurr... ORPHA:486
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Conjunctivitis ORPHA:26137
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Thrombocytopenia, ... ORPHA:169079
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Flexion contracture, Intrauterine growth retardation, Nonimmune hydrops fetalis... OMIM:608540
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial... OMIM:240500
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Eczema, Refractory ... OMIM:616871
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia, Perianal... OMIM:619437
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal t... ORPHA:295
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Premature birth... ORPHA:1909
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Lymphadenopathy, Thrombocytopenia, Conjuncti... OMIM:603552
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Hypothyroidism, Uveitis, C... OMIM:614700
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Mulibrey Nanism
Pericardial constriction, Intrauterine growth retardation, Congestive heart failure, Enamel hypop... OMIM:253250
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Recurrent cutaneous abscess formation, Arthritis, Agammaglobuline... ORPHA:47
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Omenn Syndrome
Eosinophilia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Splenomegaly... OMIM:603554
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Infantile Sialic Acid Storage Disease
Cerebral atrophy, High palate, Congestive heart failure, Ascites, Hydrops fetalis, Splenomegaly, ... OMIM:269920
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Eczema, Recu... OMIM:300988
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertrophic cardiomyopathy, Simpli... OMIM:618815
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous ... ORPHA:3392
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Erythrocytosis, Familial, 8
Normocytic anemia, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, No... OMIM:222800
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Gastrointestinal hemorrhage, Ascites, Gastroesophageal reflux, He... ORPHA:2198
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... OMIM:307200
Pericardial Effusion, Chronic
Constrictive pericarditis, Polycythemia OMIM:260900
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Recurrent r... ORPHA:33355
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Recurrent viral infections, Onychomycosis, Recurrent respiratory in... ORPHA:217390
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyop... OMIM:619433
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Increased proportion of memory T cells, Bronchiectasi... OMIM:618982
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Combined Oxidative Phosphorylation Deficiency 31
Microcephaly, Left ventricular noncompaction, Feeding difficulties, Hypertrophic cardiomyopathy OMIM:617228
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, Recurrent skin infections, Arthritis, Agammaglobulinemia, Mening... ORPHA:33110
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Hemoglobin E Disease
Splenomegaly, Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequ... ORPHA:2133
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Congestive heart failure, Atria... ORPHA:90308
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Immunodeficiency 55
Recurrent infections, Recurrent skin infections, Intrauterine growth retardation, Neutropenia, Ec... OMIM:617827
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Extrapulmonary tuberculos... OMIM:619644
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Intrauterine growth retardation, Cholestasis, Vomiting, Decreased liver function, ... OMIM:608104
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Holoprosencephaly, Recurrent Infections, And Monocytosis
Recurrent infections, Recurrent skin infections, Monocytosis, Cryptorchidism, Epicanthus OMIM:610680
Glycogen Storage Disease Iv
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Skeletal muscle atrophy, Hydrops fetali... OMIM:232500
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune t... OMIM:608184
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Autoimmune hemolyt... ORPHA:331206
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Recurrent bacterial infections, Splenomegaly, Growth del... OMIM:612541
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased circulating total IgM, Incre... OMIM:243700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Atrial Standstill
Nausea, Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular bloc... ORPHA:1344
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... OMIM:615513
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Polycystic... ORPHA:2924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Recurrent otitis medi... ORPHA:277
Li-Ghorbani-Weisz-Hubshman Syndrome
Feeding difficulties in infancy, Atrial septal defect, Ventriculomegaly, Ventricular septal defec... OMIM:618974
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Growth delay, B lymphocytopenia, R... OMIM:619164
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Cornelia De Lange Syndrome 2
High palate, Intrauterine growth retardation, Gastroesophageal reflux, Hypertrophic cardiomyopath... OMIM:300590
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Bronchiectasis, Recurrent respiratory... OMIM:608957
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Gastroesophageal reflux, Splenomegaly, Pleural effusio... ORPHA:2414
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Recurrent aphthous stomatitis, Short stature, Conjunctival... OMIM:191900
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Immunodeficiency, Common Variable, 13
Pancytopenia, Recurrent bacterial infections, Decreased circulating antibody level, B lymphocytop... OMIM:616873
Idiopathic Neonatal Atrial Flutter
Feeding difficulties in infancy, Reduced ejection fraction, Arrhythmia, Abnormal left ventricular... ORPHA:45452
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Increased variability in muscle fiber diameter, Decreased fetal movement, Myopathy, V... OMIM:616816
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Polyhydramnios, Preeclamps... ORPHA:163596
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Constrictive pericarditis, Pleural effusion, Gastrointestinal hemor... OMIM:602248
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Constipation, Cavum septum pellucidum, Feeding difficulties, Single umbilic... OMIM:615009
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased proportion of memory B cells, Decreased specific antibody response to protei... ORPHA:70593
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Intrauterine growth retardation, Hydrops fetalis, Unilateral cleft lip, Hype... OMIM:616897
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent meningococcal diseas... OMIM:614372
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Tetralogy of Fallot, Abnormality of the dentition, Atrial septal defect, Thick ... OMIM:179613
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Card... OMIM:619003
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Narrow mouth, Short philtrum, Long philtrum, Intrauterine growth retardation, Wide nasal bridge, ... OMIM:617333
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Immunodeficiency 36
Recurrent bacterial infections, Splenomegaly, Growth delay, Decreased circulating antibody level,... OMIM:616005
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Abnorma... ORPHA:911
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Trehalase Deficiency
Abnormal enzyme/coenzyme activity, Abdominal pain, Abdominal distention, Malabsorption, Diarrhea,... ORPHA:103909
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recurrent viral in... ORPHA:275
Primary Effusion Lymphoma
Abdominal pain, Abdominal distention, Pleural effusion, Pericardial effusion ORPHA:48686
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Neutropenia, Anemia, Increased circulating antibo... OMIM:615285
Ring Chromosome 1 Syndrome
Feeding difficulties in infancy, Long philtrum, Wide nasal bridge, Microcephaly, Downturned corne... ORPHA:1437
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Skin rash OMIM:120100
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, Ventriculomegaly, High, narrow palate, M... ORPHA:2515
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Chroni... OMIM:209920
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... OMIM:300310
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Persistent bleeding after trauma, Gastrointestinal hemorrhage, Subcutaneous hemorrhage... ORPHA:465
Thymic Aplasia
Hypothyroidism, Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Rec... ORPHA:83471
X-Linked Severe Congenital Neutropenia
Neutropenia, Recurrent bacterial infections, Monocytopenia ORPHA:86788
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Hashimoto thyroiditis, Rheumatoid... ORPHA:331235
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Decreased CD4:CD8 ratio, Decrease... OMIM:615518
Roifman Syndrome
Premature birth, Long philtrum, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Micr... OMIM:616651
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Elevated circulating aspartate aminotransferase concentration, H... OMIM:614876
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Smooth philtrum, Secondary... OMIM:618652
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Flexion contracture, Portal hypertension, Hepatosplenome... ORPHA:367
Familial Hypofibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:98881
Dermatitis, Atopic
Recurrent skin infections, Cataract, Facial erythema, Conjunctivitis, Eczema, Allergic rhinitis, ... OMIM:603165
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Cirrhosis, ... ORPHA:101028
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Facial hypotonia, Drooling, Congestive heart failure, Atrial septal defect, Open mouth, Feeding d... ORPHA:500533
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Long philtrum, Gastrointestinal dysmotility, Hyperintensity of cereb... ORPHA:363705
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Single umbilical artery, Polyhydramnios, In... ORPHA:3405
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody leve... OMIM:606367
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent pneumonia, Leukopenia, Blepharitis, Sparse lateral eyebrow, Spa... OMIM:604173
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Feeding difficulties in infancy, Abnormal heart morphology, Downturned corners of mouth, Intraute... ORPHA:254525
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Recurrent bronchopulmonary infections, Short stature ORPHA:90023
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Hypoplastic hippocampus, Nonimmune hydrops fetalis, Diffuse cerebral at... ORPHA:477774
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Ventricular septal defect, Downturned corners of mouth, Cleft palate ORPHA:94066
Congenital Toxoplasmosis
Cerebral calcification, Intrauterine growth retardation, Ascites, Ventriculomegaly, Jaundice, Hep... ORPHA:858
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Feeding difficulties in infancy, Cardiomegaly, High palate, Congestive heart failure, Increased v... OMIM:618654
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Feeding difficulties, Microcephaly, Ventricular septal defect, Thin corpus ... OMIM:614249
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Malabsorption, Biliary tract a... ORPHA:79301
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Recurrent bronchopulmonary infections, Short stature, Decreased circulating total IgM OMIM:610798
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Narrow mouth, Pierre-Robin sequence, Abnormal palate morphology, Intrauterine growth retardation,... ORPHA:1150
Gaucher Disease, Perinatal Lethal
Hepatic failure, Everted lower lip vermilion, Microcephaly, Dysphagia, Arthrogryposis multiplex c... OMIM:608013
Peho-Like Syndrome
Progressive microcephaly, Open mouth, Feeding difficulties, Ventriculomegaly, Lissencephaly, Pach... OMIM:617507
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Recurrent bacterial infec... OMIM:612840
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Progressive microcephaly, Constipation, Open mouth, Gastroesophageal reflux, Everted lower lip ve... OMIM:617865
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Arrhythmia, Nonimmune hydrops fetalis, Pleural effusio... ORPHA:1041
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Ventriculomegaly, Short nose, Abnormal periventricular white matter morphology, D... OMIM:613443
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum, Intrauterine growth retardation, Atrial septal defect, Wide nasal br... ORPHA:521308
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Sclerosing chola... OMIM:308230
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Hydrops fetalis, Hypotension, Myocarditis, Ventriculomegaly, Decrea... ORPHA:292
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Acute lymphoblastic leukemia OMIM:610738
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Agenesis of corpus callosum, Wide nasal bridge, Ventricular septal defect, Downtu... ORPHA:93267
Fetal Gaucher Disease
High palate, Flexion contracture, Hydrops fetalis, Splenomegaly, Decreased fetal movement, Hepato... ORPHA:85212
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Atrial septal defect, Open mouth, Thick lower lip vermilion, Wide nasal bridge,... OMIM:611087
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Flexion contracture, Constipation, Open mouth, Feeding difficulties, Pulmonary arterial hypertens... ORPHA:391372
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Intrauterine growth retardation, Congest... OMIM:230500
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Feeding difficulties, Hepatomegaly, Jaundice, Abdominal distention,... OMIM:618528
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Tonne-Kalscheuer Syndrome
Narrow mouth, Velopharyngeal insufficiency, Feeding difficulties, Wide nasal bridge, Congenital d... OMIM:300978
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Venous Malformations, Multiple Cutaneous And Mucosal
Abnormality of the mouth, Intestinal bleeding OMIM:600195
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Uveitis, Increased circulating IgG level, Increased circul... OMIM:617388
Myopathy, Congenital, Bailey-Bloch
High palate, Flexion contracture, Skeletal muscle atrophy, Feeding difficulties, Ventriculomegaly... OMIM:255995
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Feeding difficulties in infancy, Nemaline bodies, High palate, Skeletal muscle... OMIM:255320
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent infections, Recurrent skin infections, Autoimmune hemolytic anemia... OMIM:616576
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Atrial septal defect, Constipation, Gastroesophageal reflux, Cavum septum p... ORPHA:329224
Intellectual Developmental Disorder, Autosomal Recessive 73
Poor suck, Drooling, Widely spaced teeth, Feeding difficulties, Thick upper lip vermilion, Impair... OMIM:619717
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Erythema, Splenomegaly, Eczema, Lymphadenopathy, Skin ulcer, Abno... ORPHA:2584
Alg8-Cdg
Abnormality of the gastrointestinal tract, Intrauterine growth retardation, Ascites, Hydrops feta... ORPHA:79325
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Increased hepatic glycogen content, Hepatomegaly, Abdominal distenti... ORPHA:369
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Gastrointestinal hemorrhage, Hematemesis, Ascites, Intracranial hemorrhag... ORPHA:464321
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Psoriasiform lesion, Decreased proportion of CD4-po... ORPHA:169154
Liang-Wang Syndrome
Cerebral atrophy, Everted lower lip vermilion, Wide nasal bridge, Macroglossia, Macrodontia of pe... OMIM:618729
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Developmental And Epileptic Encephalopathy 66
Abnormal cardiac septum morphology, Wide nasal bridge, Thin upper lip vermilion, Downturned corne... OMIM:618067
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Recurrent infections, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Increased c... OMIM:617591
Polymyositis
Dilated cardiomyopathy, Elevated aldolase level, Gastrointestinal hemorrhage, Arrhythmia, Congest... ORPHA:732
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Morphological abnormality of the gastrointestinal tract, Bifid uvula, Long philtrum, Intestinal m... ORPHA:404440
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Abdominal distention, ... OMIM:617300
Onychotrichodysplasia And Neutropenia
Recurrent infections, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Ne... OMIM:258360
Developmental And Epileptic Encephalopathy 75
Feeding difficulties in infancy, Short philtrum, Open mouth, Wide nasal bridge, Decreased liver f... OMIM:618437
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Long philtrum, Intrauterine growth retardation, Oligohydramnios, H... OMIM:617022
Congenital Factor V Deficiency
Hematochezia, Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, G... ORPHA:326
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Decreased fet... OMIM:253300
Suleiman-El-Hattab Syndrome
High palate, Patent foramen ovale, Long philtrum, Drooling, Atrial septal defect, Thick lower lip... OMIM:618950
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Arrhythmia, Congestive heart failure, Cholestasis, Hydrop... OMIM:609015
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Roifman Syndrome
Hepatosplenomegaly, Long philtrum, Intrauterine growth retardation, Hippocampal atrophy, Microcep... ORPHA:353298
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurrent urinary tr... OMIM:615559
Wild Type Abeta2M Amyloidosis
Abnormal tendon morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Ab... ORPHA:85446
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Recurrent Staphylococcus aureus infections, Cutaneous abscess,... OMIM:147060
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Pyoderma gangrenosum, Vaginitis, Recurrent ... ORPHA:2968
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, A... OMIM:613179
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Cerebral atrophy, High palate, Long philtrum, Atrial septal defect, Open mouth, Everted lower lip... OMIM:220500
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation, Hypoplasia of the corpu... ORPHA:262767
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Deep philtrum, Feeding difficulties, Cerebral cortical atrophy, Hypoplasia of the corpus callosum... OMIM:618859
Neuraminidase Deficiency
Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Hepatomegaly, Cardiomyopathy, Ascites, Ca... OMIM:256550
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage, Macroglossia, Abdominal ... ORPHA:85443
Chronic Diarrhea Due To Glucoamylase Deficiency
Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphol... ORPHA:103907
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Recurrent pneumonia, Reduced red cell adenosine deaminase level, Pneumonia, Sinusit... OMIM:102700
Zechi-Ceide Syndrome
Short philtrum, Atrial septal defect, Oligodontia, Wide nasal bridge, Cleft lip, Abnormal heart m... ORPHA:217017
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Atrial septal defect, Hydrops fetalis, Lymphedema, Ventricular ... OMIM:601927
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Nausea, Gastrointestinal dysmotility, Ragged-red muscle fibers, Abd... ORPHA:298
Von Willebrand Disease, Type 1
Gastrointestinal angiodysplasia, Persistent bleeding after trauma, Bruising susceptibility, Gastr... OMIM:193400
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Long philtrum, Wide nasal bridge, Feeding difficulties, Microcephaly, Atrioventricul... OMIM:613792
Liver Failure, Infantile, Transient
Feeding difficulties in infancy, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute ... OMIM:613070
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... ORPHA:507
Achondrogenesis, Type Ib
Hydrops fetalis, Breech presentation, Polyhydramnios, Abdominal distention, Edema, Stillbirth OMIM:600972
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hemorrhage, Oral cavi... ORPHA:169802
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Erythroid hyperplasia OMIM:237800
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Oral cavity bleeding, Joint hemorrhage, Bleed... ORPHA:98878
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Au-Kline Syndrome
High palate, Constipation, Open mouth, Oligodontia, Feeding difficulties, Thickened nuchal skin f... OMIM:616580
Achondrogenesis Type 1A
Long philtrum, Hydrops fetalis, Thickened nuchal skin fold, Polyhydramnios, Abdominal distention,... ORPHA:93299
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Diarrhea, Vomiting ORPHA:35122
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Hepatosplenomegaly, Increased circulating ... OMIM:618534
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess, Periodontitis, Recurrent bacterial infections, Recurrent staphyloco... OMIM:116920
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Severe Epstein Barr virus infection, Reduced natur... OMIM:308240
Immunodeficiency 75
Hepatosplenomegaly, Bronchiectasis, Recurrent respiratory infections, Persistent EBV viremia, Fol... OMIM:619126
Intellectual Developmental Disorder, Autosomal Recessive 13
Short philtrum, Hypoplasia of the corpus callosum, Cleft upper lip, Wide nasal bridge, Smooth phi... OMIM:613192
Malignant Atrophic Papulosis
Abnormal myocardium morphology, Intestinal perforation, Gastrointestinal hemorrhage, Abnormal per... ORPHA:679
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Constipation, Gastrointestinal dysmotility, Abdominal pain, Abdominal distention, Malnutrition, M... OMIM:613662
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Recurrent skin infections, Abnormal natural killer cell count, ... OMIM:612260
Ménétrier Disease
Nausea, Gastrointestinal hemorrhage, Helicobacter pylori infection, Giant hypertrophic gastritis,... ORPHA:2494
Immunodeficiency 12
Recurrent bacterial infections, Growth delay, Recurrent viral infections OMIM:615468
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatic failure, Alveolar ridge overgrowth, Ascites, Wide nasal bridge, Ventriculome... OMIM:235255
Ataxia-Telangiectasia
Sinusitis, T lymphocytopenia, Decreased circulating IgG level, Female hypogonadism, Leukemia, Def... OMIM:208900
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Recurrent infections, Petechiae, Impaired neutroph... OMIM:619374
Dysplastic Cortical Hyperostosis
Hydrops fetalis, Splenomegaly, Hepatomegaly, Microcephaly, Polyhydramnios ORPHA:2204
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Cleft upper lip, Constipation, Feeding difficulties, Wide nasal bridge, Aganglion... OMIM:239300
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Right bundle bran... OMIM:115197
Chromosome 4Q21 Deletion Syndrome
Short philtrum, Downturned corners of mouth, Cerebral hypoplasia OMIM:613509
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Cerebral cortical hemiatrophy, Aortic regurgitation, Agenesis of corpus call... ORPHA:96147
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding a... ORPHA:169805
Facial Paresis, Hereditary Congenital, 3
Feeding difficulties, Dysphagia, Smooth philtrum, Facial palsy, Downturned corners of mouth, Shor... OMIM:614744
Congenital Pancreatic Cyst
Anorexia, Jaundice, Abdominal pain, Abdominal distention, Vomiting ORPHA:313906
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Prolonged bleeding after de... OMIM:231200
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Megalencephaly, Ventricular septal defect, Hydrocephalus, Mitral regurgitation, Pol... ORPHA:83473
Fetal Valproate Spectrum Disorder
Narrow mouth, Long philtrum, Thin vermilion border, Downturned corners of mouth, Short nose ORPHA:1906
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the liver, Abnormality of the dentition, Hyperintensity of cerebral white matter o... ORPHA:88618
Cholestasis-Lymphedema Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Nausea an... ORPHA:1414
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Gastrointestinal hemorrhage, Oral cav... ORPHA:328
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... OMIM:173470
Gm1 Gangliosidosis
Long philtrum, Macroglossia, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular se... ORPHA:354
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Microcephaly, Ventricular septal defect, Ventricular septal hyper... OMIM:614947
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Reduced delayed hypersensitivity, Bronchiectasis, Eczema... OMIM:242700
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Short philtrum, Bifid uvula, Long philtrum, Drooling, Perisylvian polymicrogyria, Hypertrophic ca... OMIM:619121
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Congestive heart failure, Ascites, Bacterial endocarditis, Jaundice,... ORPHA:615
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Open m... OMIM:613156
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... OMIM:273800
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Abnormal left ventricular function, Congestive h... ORPHA:2041
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Atrial septal defect, Constipation, Gastroesophageal reflux,... OMIM:611961
Trimethylaminuria
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Recurrent mycobacterial infections OMIM:616126
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Intrauterine growth retardation, Agammaglobulinemia, Thrombocytosis, Interface hepa... OMIM:243150
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Trisomy 1Q
Narrow mouth, Agenesis of corpus callosum, Hydrops fetalis, Ventriculomegaly, Congenital diaphrag... ORPHA:261344
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, B lymphocytopenia, Perian... OMIM:618108
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Peroxisome Biogenesis Disorder 6A (Zellweger)
Feeding difficulties in infancy, Colpocephaly, Wide nasal bridge, Decreased liver function, Hepat... OMIM:614870
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Severe cytomegalovirus infection, Impaired lymphocyte tran... OMIM:619313
Dengue Fever
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Hypotension, ... ORPHA:99828
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pne... OMIM:619652
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Abnormal car... ORPHA:1937
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Recurrent sinusitis, Increased mean corpuscular... OMIM:618849
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233710
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Non-midline cleft lip, Abnormality of the gallbladder, Wide nasa... ORPHA:2075
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis,... OMIM:619693
Muckle-Wells Syndrome
Uveitis, Arthritis, Splenomegaly, Recurrent aphthous stomatitis, Episcleritis, Anemia, Short stat... ORPHA:575
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Arthritis, Conjunctivitis OMIM:617772
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Hemochromatosis, Neonatal
Hepatic failure, Intrauterine growth retardation, Cholestasis, Nonimmune hydrops fetalis, Hepatoc... OMIM:231100
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Otitis media, Abnormal platelet morphology, Hypoplasia of... ORPHA:906
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Nonimmune hydrops fetalis, Decreased liver function, Cardiomyopa... OMIM:618839
Immunodeficiency 70
Decreased circulating total IgM, Retinal vasculitis, Colitis, Decreased circulating total IgG, De... OMIM:618969
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Inflammatory Pseudotumor Of The Liver
Nausea, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, E... ORPHA:90003
Mpi-Cdg
Portal hypertension, Gastrointestinal hemorrhage, Hepatic fibrosis, Decreased liver function, Hep... ORPHA:79319
Congenital Factor Vii Deficiency
Bruising susceptibility, Abnormality of the umbilical cord, Gastrointestinal hemorrhage, Menorrha... ORPHA:327
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Flexion contracture, Long philtrum, Drooling, U-Shaped upper lip ver... OMIM:301041
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Neutropenia, Anemia,... OMIM:617475
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy, Decrease... OMIM:618835
Necrobiosis Lipoidica
Abnormality of the thyroid gland, Erythema, Granuloma, Abnormality of neutrophil physiology, Infl... ORPHA:542592
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Cirrhosis, Peritonitis, Cholecystitis, Splenome... ORPHA:131
Cirrhosis, Familial
Jaundice, Pulmonary arterial hypertension, Esophageal varix, Abdominal distention, Hypertension, ... OMIM:215600
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... ORPHA:766
Pseudoxanthoma Elasticum, Forme Fruste
High palate, Gastrointestinal hemorrhage, Retinal hemorrhage, Calcification of falx cerebri, High... OMIM:177850
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... OMIM:607676
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Wide nasal bridge, Microcephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Th... ORPHA:352530
Burkitt Lymphoma
Increased circulating lactate dehydrogenase concentration, Abnormality of the liver, Gastrointest... ORPHA:543
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebral atrophy, Long philtrum, Constipation, Open mouth, Gastroesophageal reflux, High, narrow ... OMIM:618494
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233690
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebral atrophy, Elbow flexion contracture, Long philtrum, Gastroesophageal reflux, Wide nasal b... OMIM:616266
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent upper respiratory tract infect... OMIM:618944
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Hepatomegaly, Pedal ... ORPHA:87876
Maternal Uniparental Disomy Of Chromosome 1
Gastroesophageal reflux, Feeding difficulties, Ventriculomegaly, Hepatomegaly, Smooth philtrum, D... ORPHA:251009
Puerto Rican Infant Hypotonia Syndrome
High palate, Narrow palate, Long philtrum, Drooling, Constipation, Open mouth, Abdominal distenti... OMIM:600096
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Necrotizing Enterocolitis
Bloody diarrhea, Peritonitis, Hypotension, Abnormal heart morphology, Abdominal distention, Ascit... ORPHA:391673
Mgat2-Cdg
Reduced level of N-acetylglucosaminyltransferase II, Progressive microcephaly, Arrhythmia, Open m... ORPHA:79329
Filippi Syndrome
Short philtrum, Intrauterine growth retardation, Hypodontia, Microdontia, Wide nasal bridge, Micr... OMIM:272440
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Constipation, Gastrointestinal dysmotility, Macroglossia, Microcephaly, Ventricular ... ORPHA:453499
Catel-Manzke Syndrome
Atrial septal defect, Ventriculomegaly, Glossoptosis, Ventricular septal defect, Camptodactyly of... ORPHA:1388
Distal Trisomy 15Q
High palate, Long philtrum, Intrauterine growth retardation, Anal atresia, Microcephaly, Camptoda... ORPHA:1707
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Thyroid Hemiagenesis
Constipation, Abdominal distention, Jaundice, Macroglossia ORPHA:95719
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Patent foramen ovale, Arthrogryposis-like hand anomaly, Open mouth, Widely spaced te... ORPHA:369891
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Classical-Like Ehlers-Danlos Syndrome Type 1
Bruising susceptibility, Gastrointestinal hemorrhage, Arrhythmia, Skeletal muscle atrophy, Mitral... ORPHA:230839
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level, Malar rash, Discoid lupus ... ORPHA:90280
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Cornelia De Lange Syndrome 5
Feeding difficulties in infancy, High palate, Long philtrum, Gastroesophageal reflux, Widely spac... OMIM:300882
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Pneumonia, Periodontitis... OMIM:266265
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Short philtrum, Open mouth, Hypodontia, Everted lower lip vermilion, Wide nasal brid... OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 23
Long philtrum, Drooling, Wide nasal bridge, Feeding difficulties, Dental crowding, Smooth philtru... OMIM:615761
Takenouchi-Kosaki Syndrome
Short philtrum, Dental malocclusion, Progressive microcephaly, Long philtrum, Widely spaced teeth... OMIM:616737
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Cerebral hemo... ORPHA:3002
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Megaloblasti... ORPHA:75564
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Blepharitis, Dry skin, Corneal dystrophy, Sparse eyebrow, Facial erythema, Sparse eyelashes, Ectr... OMIM:308800
3P25.3 Microdeletion Syndrome
Short philtrum, Skeletal muscle atrophy, Atrial septal defect, Deep philtrum, Cerebral white matt... ORPHA:435638
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Arrhythmia, Decreased liver function, Hypertension, Ventricular ... OMIM:617021
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Protein-losing enteropathy, Dehydration, Edema, Diarrhea ORPHA:103910
Clark-Baraitser Syndrome
High palate, Long philtrum, Downturned corners of mouth, Short nose, Wide mouth OMIM:617752
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cerebral calcification, Gastrointestinal hemorrhage, Focal hyperintensity of cerebral white matte... ORPHA:247691
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Everted lower lip vermilion, Deep philtrum, Exaggerated... ORPHA:261120
Acquired Von Willebrand Syndrome
Gastrointestinal angiodysplasia, Persistent bleeding after trauma, Bruising susceptibility, Aorti... ORPHA:99147
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Intrauterine growth retardation... ORPHA:2643
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Cerebral atrophy, Elevated circulating alanine aminotransferase concentration, Hepatic bridging f... OMIM:613759
Pontocerebellar Hypoplasia, Type 3
Cerebral atrophy, High palate, Progressive microcephaly, Long philtrum, High, narrow palate, Hypo... OMIM:608027
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Polycystic liver disease, Elevated circulating alkaline phosphatase concent... OMIM:174050
German Syndrome
High palate, Tetralogy of Fallot, Open mouth, Everted lower lip vermilion, Wide nasal bridge, Lym... ORPHA:2077
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebral atrophy, High palate, Long philtrum, Open mouth, Deep philtrum, Restrictive cardiomyopat... OMIM:615398
Beta-Thalassemia
Microcytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Anemia, Hepatitis, Abnormal hemog... ORPHA:848
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Restrictive cardiomyop... OMIM:264800
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia, Neonatal death OMIM:257100
Mmep Syndrome
Microcephaly, Median cleft lip, Ventricular septal defect, Oral cleft ORPHA:3434
Achondrogenesis
Long philtrum, Hydrops fetalis, Thickened nuchal skin fold, Polyhydramnios, Short nose ORPHA:932
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Abnormal heart... ORPHA:2185
Neuroendocrine Tumor Of The Rectum
Hematochezia, Bloody diarrhea, Constipation, Protracted diarrhea, Hypotension, Anorexia, Hepatome... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Bloody diarrhea, Constipation, Protracted diarrhea, Hypotension, Anorexia, Hepatome... ORPHA:100082
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Skeletal muscle at... ORPHA:1876
Xk Aprosencephaly Syndrome
Narrow mouth, Atrial septal defect, Anal atresia, Microcephaly, Polyhydramnios, Ventricular septa... ORPHA:3469
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Myopathy, Cardiomyopathy, Elevated hepatic transamina... OMIM:617713
Fadd-Related Immunodeficiency
Cerebral atrophy, Hepatic fibrosis, Decreased liver function, Ventricular septal defect ORPHA:306550
Monosomy 18P
Short philtrum, Hypodontia, Carious teeth, Wide nasal bridge, Microcephaly, Lymphedema, Hypertens... ORPHA:1598
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Cerebral calcification, Bruising susceptibility, High palate, Ga... ORPHA:758
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Primary microcephaly OMIM:619340
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Attrv30M Amyloidosis
Arrhythmia, Constipation, Cardiomyopathy, Atrioventricular block, Cardiomegaly, Diarrhea ORPHA:85447
Mosaic Trisomy 9
High palate, Abnormal heart valve morphology, Intrauterine growth retardation, Endocardial fibroe... ORPHA:99776
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Microcephaly, High palate, Downturned corners of mouth, Short philtrum ORPHA:85280
Lowry-Maclean Syndrome
Hydrocephalus, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Congen... ORPHA:2409
Typhoid
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Constipation, Splenomegaly, Hepatomegaly... ORPHA:99745
Gaisböck Syndrome
Increased hematocrit, Cholecystitis, Increased mean corpuscular hemoglobin concentration, Increas... ORPHA:90041
Atresia Of Small Intestine
Intrauterine growth retardation, Intestinal hypoplasia, Intestinal malrotation, Feeding difficult... ORPHA:1201
Microcephaly 16, Primary, Autosomal Recessive
Agenesis of corpus callosum, Open mouth, Knee flexion contracture, Microcephaly, Simplified gyral... OMIM:616681
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Gastrointestinal dysmotility, Aplasia/Hypoplasia of the corpus callos... ORPHA:531151
Kleefstra Syndrome
Tetralogy of Fallot, Advanced eruption of teeth, Agenesis of corpus callosum, Arrhythmia, Delayed... ORPHA:261494
Chronic Granulomatous Disease
Sinusitis, Inflammatory abnormality of the eye, Splenomegaly, Mediastinal lymphadenopathy, Mening... ORPHA:379
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Severe infection, Chola... ORPHA:183675
Athyreosis
Constipation, Abdominal distention, Feeding difficulties, Macroglossia ORPHA:95713
Acrocephalopolydactyly
Protuberant abdomen, Abnormality of the mouth, Hepatosplenomegaly, Short nose ORPHA:221054
Congenital Hypothyroidism
Feeding difficulties in infancy, Abnormal pericardium morphology, Arrhythmia, Constipation, Trach... ORPHA:442
Hypocomplementemic Urticarial Vasculitis
Uveitis, Arthritis, Inflammatory abnormality of the eye, Recurrent bacterial infections, Splenome... ORPHA:36412
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Hepatosplenomegaly, Part... ORPHA:35078
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Noonan Syndrome 12
Feeding difficulties in infancy, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventriculome... OMIM:618624
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hepatosplenomegaly, Long philtrum, Intrauterine growth retardation,... ORPHA:79255
Trisomy 13
Long philtrum, Intrauterine growth retardation, Atrial septal defect, Hydrops fetalis, High, narr... ORPHA:3378
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Camptodactyly of finger, Knee flexion contracture, Cleft ... OMIM:619110
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Growth delay, Inflammation of the large intesti... OMIM:615767
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Hypertrophic car... OMIM:616501
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Hypoplasia of the iris... ORPHA:169090
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Short philtrum, Open mouth, Thick upper lip vermilion, Ventriculomegaly, ... OMIM:617281
Meckel Syndrome, Type 8
Cleft upper lip, Microcephaly, Abdominal distention, Cleft palate, Short nose OMIM:613885
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Short philtrum, Colpocephaly, Microcephaly, Tooth agenesis, Macrodontia, Polymicrogyria, Downturn... OMIM:618731
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Portal hypertension, Gastrointestinal h... ORPHA:974
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... OMIM:249670
Whipple Disease
Hydrocephalus, Myositis, Gastrointestinal hemorrhage, Hypotension, Myocarditis, Myocardial infarc... ORPHA:3452
Alg9-Cdg
Bifid uvula, Progressive microcephaly, Long philtrum, Ventricular septal defect, Villous atrophy,... ORPHA:79328
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Intrauterine growth retardation, Open bite, Abnormality of dental erup... ORPHA:1327
Achondrogenesis Type 1B
Long philtrum, Hydrops fetalis, Thickened nuchal skin fold, Polyhydramnios, Short nose ORPHA:93298
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Dextrotransposition of the great arteries, Feeding dif... OMIM:618619
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Ovarian Hyperstimulation Syndrome
Hypovolemia, Nausea, Peripheral edema, Pleural effusion, Capillary leak, Enlarged polycystic ovar... ORPHA:64739
Cap Polyposis
Colorectal polyposis, Hematochezia, Constipation, Abdominal pain, Abdominal distention, Atrophic ... ORPHA:160148
Achondrogenesis, Type Ii
Hydrops fetalis, Polyhydramnios, Abdominal distention, Edema, Cleft palate, Stillbirth OMIM:200610
Thakker-Donnai Syndrome
Communicating hydrocephalus, Narrow mouth, Tetralogy of Fallot, Rectovaginal fistula, Agenesis of... ORPHA:1780
Qazi-Markouizos Syndrome
Drooling, Open mouth, High, narrow palate, Hypoplasia of teeth, Abdominal distention, Broad philt... ORPHA:3010
Potocki-Shaffer Syndrome
Short philtrum, Downturned corners of mouth, Wide nasal bridge, Short nose OMIM:601224
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Protracted diarrhea, Hypotension, Anorexia, Hepatomegaly, Abnormal pulmonary val... ORPHA:100080
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Immunodeficiency 23
Eosinophilia, Recurrent Staphylococcus aureus infections, Increased circulating IgG level, Increa... OMIM:615816
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Constipation, Protuberant abdomen, Macroglossia, Abdominal diste... ORPHA:226313
Dracunculiasis
Skin ulcer, Recurrent cutaneous abscess formation, Arthritis, Skin rash ORPHA:231
Zika Virus Disease
Intrauterine growth retardation, Arthritis, Increased circulating IgM level, Infectious encephali... ORPHA:448237
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Narrow mouth, Short philtrum, Agenesis of corpus callosum, Atrial septal defect, Small cerebral c... OMIM:617360
Periodic Fever, Familial, Autosomal Dominant
Myositis, Gastrointestinal hemorrhage, Chronic diarrhea, Hepatomegaly, Abdominal pain, Periorbita... OMIM:142680
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Constipation, Downturned corners of mouth, High, narrow palate, Wide mouth OMIM:273390
Tyshchenko Syndrome
High palate, Intrauterine growth retardation, Atrial septal defect, Feeding difficulties, Pulmoni... OMIM:615102
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine... OMIM:212140
Intellectual Developmental Disorder, Autosomal Dominant 65
Short philtrum, Agenesis of corpus callosum, Facial hypotonia, Long philtrum, Wide nasal bridge, ... OMIM:619320
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Combined Deficiency Of Factor V And Factor Viii