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Gene: Cyld MGI:1921506

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Gene Summary

Name:
CYLD lysine 63 deubiquitinase
Synonyms:
2010013M14Rik,  2900009M21Rik,  C130039D01Rik,  CYLD1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Cyldem2(IMPC)Marc HOM Early adult 5.97×10-09
increased basophil cell number Cyldem2(IMPC)Marc HOM Early adult 1.96×10-35
decreased locomotor activity Cyldem2(IMPC)Marc HOM Early adult 1.39×10-11
decreased exploration in new environment Cyldem2(IMPC)Marc HOM Early adult 8.30×10-06
increased eosinophil cell number Cyldem2(IMPC)Marc HOM Early adult 1.35×10-12

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Cyld 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 Cyld by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Trichoepithelioma, Multiple Familial, 1
Basal cell carcinoma OMIM:601606
Cylindromatosis, Familial
Neoplasm of the skin OMIM:132700
Brooke-Spiegler Syndrome
Neoplasm OMIM:605041
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Dementia, Memory impairment, Frontotemporal dementia OMIM:619132
Familial Multiple Trichoepithelioma
Basal cell carcinoma ORPHA:867
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased B cell count, Chronic noninfectious lymphadenopathy, ... OMIM:603909
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... OMIM:612783
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... ORPHA:100024
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 88
Eosinophilia OMIM:619630
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Nodular regenerative hyperpla... OMIM:301082
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... OMIM:618495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... OMIM:209950
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Auto... OMIM:616100
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc... OMIM:619398
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Failure to thri... OMIM:615863
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ... ORPHA:277
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... ORPHA:397596
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Obesity, Congenital hypothyroidism ORPHA:88643
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, He... OMIM:617388
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnut... ORPHA:2494
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... OMIM:613101
Pilomatrixoma
Pilomatrixoma OMIM:132600
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Abnormality of the gastrointestinal tract, Weight loss, Lymphadeno... ORPHA:52416
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Idiopathic Achalasia
Gastroesophageal reflux, Malnutrition, Decreased circulating prealbumin concentration, Weight los... ORPHA:930
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,... OMIM:615934
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Decreased proportion of CD8-po... OMIM:617241
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level ORPHA:37748
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi... OMIM:614700
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Allergic rhinitis, Atopic dermatitis, ... ORPHA:2070
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... ORPHA:436159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... OMIM:102700
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Increa... OMIM:616050
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Diarrhea, Failure to thrive, Malnutrition, Hypoch... OMIM:246700
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Neoplasm of the la... ORPHA:100083
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... OMIM:620632
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... OMIM:260920
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Abnormal circulating protein... ORPHA:103910
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Ficolin 3 Deficiency
Verrucae, Necrotizing enterocolitis OMIM:613860
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... ORPHA:169160
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Asc... OMIM:615122
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph... ORPHA:90362
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hepatitis, Increased circulating IgE level, Leukocytosis, Splenomegaly, Autoimmune hemolytic anem... OMIM:620565
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616910
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Refractory Celiac Disease
Inflammatory abnormality of the skin, Microcytic anemia, Hypophosphatemia, Weight loss, Abdominal... ORPHA:398063
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, B-cell lymphoma, Lymphadenopat... OMIM:619164
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... OMIM:300755
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 22
Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Decreased proportion o... OMIM:615758
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Neutropenia OMIM:616395
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Ascites, Hepatic steatosis, Decreased proportion of CD4-positive T cells,... OMIM:301045
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... ORPHA:29073
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu... ORPHA:33355
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Anemia, Eosinophilia, Mon... OMIM:226990
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W... ORPHA:26790
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat... OMIM:604416
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Cleft palate, Weight los... ORPHA:141152
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration ORPHA:70589
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcin... OMIM:174900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy ORPHA:343
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 47
Accessory spleen, Hepatic bridging fibrosis, Hepatic fibrosis, Normocytic anemia, Decreased circu... OMIM:300972
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... OMIM:608184
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Central hypothyroidism, Villous at... ORPHA:95427
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Erythroderma, Lethal Congenital
Hypoalbuminemia, Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Pulmonary Blastoma
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma ORPHA:64741
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... ORPHA:2032
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Neo... ORPHA:388
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Ane... OMIM:612301
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... OMIM:243700
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Meconium Aspiration Syndrome
Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothorax, Abnormal pulmon... ORPHA:70588
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Abnorm... ORPHA:2902
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Trichoepithelioma, Multiple Familial, 1
Basal cell carcinoma OMIM:601606
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection... OMIM:620321
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Zollinger-Ellison Syndrome
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:913
Cylindromatosis, Familial
Neoplasm of the skin OMIM:132700
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Oxygen desaturation on... OMIM:610978
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... ORPHA:3162
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Unsteady gait OMIM:618092
Arteriosclerosis, Severe Juvenile
Anemia, Delayed puberty, Gastric ulcer OMIM:208060
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Paraproteinemia, ... ORPHA:331235
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Diarrhea 13
Hypoalbuminemia, Vomiting, Secretory diarrhea, Failure to thrive OMIM:620357
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Eosinophilia OMIM:253600
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cel... OMIM:131100
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Fai... ORPHA:79319
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine, Diabetes mellitus ORPHA:46487
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Increased circulating interleukin 6 concentration, Cholestasis, Decreased circu... OMIM:620376
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Wells Syndrome
Eosinophilia ORPHA:901
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Cardiomegal... ORPHA:79330
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Puberty and gonadal disorders, De... ORPHA:79320
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... ORPHA:160148
Autoimmune Hepatitis
Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody le... ORPHA:2137
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Wolfram Syndrome
Gastrointestinal hemorrhage, Male hypogonadism, Hypogonadism, Malabsorption, Feeding difficulties... ORPHA:3463
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy ORPHA:353298
Tempi Syndrome
Ascites, Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... ORPHA:79124
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy OMIM:619750
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thri... OMIM:602579
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus ORPHA:100
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Splenomegaly, Abnor... ORPHA:186
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... OMIM:620005
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Hypothyroidism, Abdominal distention, H... OMIM:256300
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulating antibody level, Auto... OMIM:615952
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,... OMIM:620045
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Intestinal obstruc... ORPHA:67
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Ty... OMIM:263000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea... OMIM:301074
Congenital Lethal Erythroderma
Hypoalbuminemia, Malabsorption, Congenital exfoliative erythroderma, Failure to thrive ORPHA:1954
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia... OMIM:304790
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level ORPHA:90280
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:620532
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopen... ORPHA:2072
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopathy, Thrombo... OMIM:617591
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Aids Wasting Syndrome
Malnutrition, Malabsorption, Abnormal gonadotropin-releasing hormone concentration, Cachexia, Wei... ORPHA:90081
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... ORPHA:169105
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abdomina... ORPHA:83469
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... OMIM:613662
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Wei... OMIM:619381
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly OMIM:605309
Multiple Endocrine Neoplasia Type 4
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:276152
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con... ORPHA:449432
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Dystonia 31
Dysphagia, Abnormal posturing OMIM:619565
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Diarrhea, Small for gestational age, Failure to thrive,... OMIM:614602
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... OMIM:615816
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Bloody diarrhea, Chronic constipation, Dec... ORPHA:209964
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, A... ORPHA:540
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec... OMIM:601495
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Abnormal circulating selenium concentration, Anal ... ORPHA:89842
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:572
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to... OMIM:613752
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstr... OMIM:226300
Aicardi-Goutieres Syndrome 6
Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia, Hepatomegal... OMIM:615010
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Arthritis OMIM:161700
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liv... OMIM:608104
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Peptic ulcer, Multiple lipomas, Pancreatitis, Hypercalcemia, Primary hyperparath... OMIM:145981
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Weight loss... ORPHA:98849
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... ORPHA:1572
Prolidase Deficiency
Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundice, Anemia, Thromboc... OMIM:170100
Sandifer Syndrome
Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Episodic vo... ORPHA:71272
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Anorexia, Breast carcinoma ORPHA:86893
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Lymphadenopathy, Thrombocytope... ORPHA:79078
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... OMIM:615947
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Abnormality of the gastroi... ORPHA:79327
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer OMIM:137270
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis OMIM:617609
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Biliary cirrhosis, Leukopenia, Enlarged ... ORPHA:2298
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly... ORPHA:2969
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia OMIM:614096
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hypergastrinemia, Duodenal ulcer, Hyperpepsinogenemia I OMIM:126840
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia OMIM:615387
Parathyroid Carcinoma
Abnormal parathyroid morphology, Nausea and vomiting, Hypophosphatemia, Weight loss, Dysphagia, P... ORPHA:143
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Lambert Syndrome
Cholestasis, Jaundice, Intrahepatic biliary atresia, Decreased circulating antibody level ORPHA:1296
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Cinca Syndrome
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis OMIM:607115
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Malignant Peritoneal Mesothelioma
Neoplasm, Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain ORPHA:168811
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Palmoplantar pustulosis, Hypon... ORPHA:247353
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased response to growth hormone stimulation test, Decreased body weight, Hy... OMIM:618347
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells OMIM:607616
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia, Membranoproliferative glomerulonephritis OMIM:615008
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Juvenile Polyposis Of Infancy
Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Gastrointestinal hemorrhage, Protein-l... ORPHA:79076
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Cirrhosis, Chylou... ORPHA:90363
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Atelectasis, Neonatal death OMIM:300219
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antib... ORPHA:400
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
X-Linked Agammaglobulinemia
Weight loss, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media, Osteomyeli... ORPHA:47
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Bloom Syndrome
Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Acute ly... ORPHA:125
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia, Pancreatitis, Chronic diarrhea OMIM:618805
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypersplenism, Hyperbilirubinemia, Leukopenia, Sple... ORPHA:64743
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg... OMIM:618935
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Hyp... OMIM:618999
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... OMIM:256040
Rhabdoid Tumor
Nausea and vomiting, Neoplasm of the liver, Weight loss, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:69077
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothorax, Hypoxemia ORPHA:1302
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis, Pulmonary opacity ORPHA:330012
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:267700
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Spl... ORPHA:77259
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Villous atrophy, Malab... OMIM:209920
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Psoriasiform dermatitis, Malabsorption, Eosinophilic infiltra... OMIM:615508
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level OMIM:618165
Pilomatrixoma
Neoplasm of head and neck, Pruritus, Pilomatrixoma ORPHA:91414
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Reduced circulating complement concentration, Eo... ORPHA:449427
Kaposi Sarcoma
Neoplasm of the skin, Diarrhea, Abnormality of the spleen, Skin rash, Hemangioma, Abnormality of ... ORPHA:33276
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent tonsil... ORPHA:183675
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce... ORPHA:652
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodeficiency 12
Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem... OMIM:615468
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Anorexia ORPHA:2023
Immunodeficiency 59 And Hypoglycemia
Prolonged neonatal jaundice, Complete or near-complete absence of specific antibody response to u... OMIM:233600
Shigellosis
Microangiopathic hemolytic anemia, Anorexia, Abdominal pain, Abnormal blood ion concentration, In... ORPHA:810
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Splenomegaly, Portal hyp... OMIM:613385
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Wolman Disease
Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,... ORPHA:75233
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Failure to thrive, Eosin... ORPHA:411696
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Primary Ciliary Dyskinesia
Abnormal sperm motility, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peri... ORPHA:244
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neopl... ORPHA:99867
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer, Type II diabetes mellitus ORPHA:2069
Bloom Syndrome
Decreased circulating IgG level, Leukemia, Decreased circulating IgA level, Hepatic steatosis, De... OMIM:210900
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Pulmonary hypoplasia OMIM:616531
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden... ORPHA:42642
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute... ORPHA:319218
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Familial Colorectal Cancer Type X
Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neop... ORPHA:440437
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Neoplasm, Chronic diarrhea, Weight loss, Lymphadenopathy, Mac... ORPHA:2221
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Inflammatory Pseudotumor Of The Liver
Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir... ORPHA:90003
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Granuloma, Cholestasis, Interface hepatitis, Sclerosing cholangitis, G... ORPHA:562639
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic adenoca... ORPHA:99880
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Abnormal posturing, Failure to thrive, Elevated circulating propionylcar... OMIM:614857
Anaplastic Thyroid Carcinoma
Goiter, Anaplastic thyroid carcinoma, Neoplasm of the skeletal system, Tracheoesophageal fistula,... ORPHA:142
Bronchiolitis Obliterans
Pneumonia, Ground-glass opacification, Respiratory tract infection, Bronchiolitis obliterans, Hyp... ORPHA:1303
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Medullary Thyroid Carcinoma
Diarrhea, Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skelet... ORPHA:1332
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Neop... ORPHA:2930
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Verrucae, Bronchiectasis, Eczematoid dermatitis, Cutaneou... OMIM:618131
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Peptic ulcer, Multiple lipomas, Hypophosphatemia, Pancreatitis, Hypercalcemia, P... OMIM:600740
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Myeloma, Multiple
Paraproteinemia OMIM:254500
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Diarrhea, Vomiting, Nausea, Gastrointestinal dysmotility, Abnormality of... ORPHA:298
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Villous atrophy, Splenomegaly OMIM:608776
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... OMIM:616433
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Perching Syndrome
Cyanosis OMIM:617055
Citrullinemia Type Ii
Hypoalbuminemia, Diarrhea, Vomiting, Decreased body mass index, Decreased HDL cholesterol concent... ORPHA:247585
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Exocrine pancreatic insuf... ORPHA:1333
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Feeding difficulties OMIM:614652
Coffin-Siris Syndrome 1
Intestinal malrotation, Cryptorchidism, Hemangioma, Feeding difficulties in infancy, High palate,... OMIM:135900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased total bilirubin, Increased circul... OMIM:603553
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr... ORPHA:543
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu... OMIM:617718
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Cyanosis, Pneumothorax, Recurrent respiratory infections, H... ORPHA:2257
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:420741
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Anorexia, Nausea and vomiting, Weight loss, Pancreatitis, Acholic stools, Abdomin... ORPHA:65682
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Gastrointestinal carcinoma, Hematochezia, Xerostomia, Diarrhea, Vomit... OMIM:175500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... OMIM:610377
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatos... ORPHA:247598
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia ORPHA:39041
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Elevated c... ORPHA:90038
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Focal Myositis
Myositis, Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Failure to thrive, Decreased liver function, Hepatosplenomegaly... ORPHA:367
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia OMIM:619003
Pachydermoperiostosis
Neoplasm of the skin, Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyel... ORPHA:2796
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... ORPHA:90041
Nephroblastoma
Neoplasm, Nephroblastoma, Neoplasm of the liver, Weight loss, Lymphadenopathy, Abdominal pain, Ne... ORPHA:654
Brucellosis
Granuloma, Hypersplenism, Abnormality of the liver, Leukopenia, Splenomegaly, Leukocytosis, Anemi... ORPHA:1304
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Membranoproliferative glomerulonephritis ORPHA:54370
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells, Enteroviral hepatitis, Panhypogammaglobulinemia OMIM:307200
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424019
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis, Failure to thrive, Decreased pineal volume OMIM:301108
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Feeding difficulties in ... OMIM:619013
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Hereditary Amyloidosis With Primary Renal Involvement
Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Weight loss... ORPHA:85450
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Abnormality of the pancreas ORPHA:935
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cyanosis ORPHA:2414
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abnormality of the liver, Abscess, Peritonitis, Eosinophili... ORPHA:228123
Autosomal Agammaglobulinemia
Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Aggressive Systemic Mastocytosis
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematological neoplasm, Weight loss, N... ORPHA:98850
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Vomiting, Recurrent tonsillitis, Failure to thrive in infancy,... ORPHA:171876
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Autoimmune Polyendocrinopathy Type 4
Thymoma, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Biliary... ORPHA:227990
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level, Hepatic cysts OMIM:617425
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... ORPHA:284
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia, Abnormal posturing, Aspiration pneumonia ORPHA:216866
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Vulvar neoplasm, Abnormal gastrointestinal tract morphology, Weight loss, A... ORPHA:1018
Bacterial Toxic-Shock Syndrome
Diarrhea, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Elevated circulating cre... ORPHA:36234
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgE level, Reduced circulating complement concentration, Inc... ORPHA:449395
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Erythroderma, Conjun... OMIM:242150
Lymphedema, Primary, With Myelodysplasia
Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:269920
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of... OMIM:616622
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T... ORPHA:457077
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:620010
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Thrombocytopeni... OMIM:617303
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Hemochromatosis, Type 2B
Hepatic fibrosis, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary i... OMIM:612387
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly OMIM:248500
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pituitary adenoma, Neuroendocrine neoplasm, Pituitary prolactin cell... ORPHA:97289
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Rift Valley Fever
Hepatitis, Jaundice, Thrombocytopenia, Anemia, Increased circulating IgG level, Increased circula... ORPHA:319251
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Feeding difficulties in infancy, Thymus hyperplasia OMIM:619036
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Mohr-Tranebjaerg Syndrome
Dysphagia, Abnormal posturing OMIM:304700
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomeg... OMIM:615688
Avian Influenza
Pneumonia, Hypoalbuminemia, Myelitis, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Ele... ORPHA:454836
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, O... OMIM:614162
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr... OMIM:603041
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta... ORPHA:824
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pachygyria, Pulmonary hypoplasia OMIM:618174
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin ORPHA:2314
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Zygomycosis
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Abdo... ORPHA:73263
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Neoplasm, Predominantly dermal neutrophilic in... ORPHA:3243
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Caffey Disease
Increased circulating antibody level ORPHA:1310
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan... OMIM:614576
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Babesiosis
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia ORPHA:108
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis ORPHA:747
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Failure ... OMIM:615895
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia, ... OMIM:617341
Pleural Mesothelioma
Weight loss, Dysphagia, Lymphadenopathy ORPHA:50251
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent... ORPHA:88618
Grfoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97261
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased circulating an... ORPHA:51636
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Hepatomegaly, Biliary hyperplasi... ORPHA:83617
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Poems Syndrome
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Lymphad... ORPHA:2905
Q Fever
Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ... ORPHA:781
Primary Sclerosing Cholangitis
Hypoalbuminemia, Uveitis, Cholelithiasis, Type I diabetes mellitus, Hepatitis, Acute hepatic fail... ORPHA:171
Alopecia Totalis
Type I diabetes mellitus, Inflammation of the large intestine ORPHA:700
Wolfram Syndrome 2
Peptic ulcer, Diabetes insipidus, Diabetes mellitus OMIM:604928
Lynch Syndrome
Neoplasm of the skin, Nausea and vomiting, Neoplasm of the skeletal system, Neoplasm of the rectu... ORPHA:144
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis ORPHA:3318
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia... OMIM:242900
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Elevated circulati... OMIM:618183
Tick-Borne Encephalitis
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... ORPHA:297
Ppoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97278
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Nausea and vomiting, Hyponatremia, Weight loss, Anorexia, Diabetes i... ORPHA:178029
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath... ORPHA:47612
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Autoimmune Polyendocrinopathy Type 3
Thymoma, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Biliary... ORPHA:227982
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Late-Onset Isolated Acth Deficiency
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Abdominal pain, Celiac ... ORPHA:199299
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Retic... OMIM:618278
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Decreased liver function, Extramedullary hema... OMIM:617021
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos... ORPHA:77297
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties OMIM:612075
Dubin-Johnson Syndrome
Abdominal pain, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology ORPHA:234
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Weight loss, Elevated circulating C-reactive protein c... ORPHA:767
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn... ORPHA:98897
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis OMIM:613327
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100026
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Hypercholesterolemia, High palate, Cleft palate OMIM:616730
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Ascites ORPHA:1046
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Inc... ORPHA:85443
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Skin rash, Keratoconjunctivi... OMIM:617321
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Leukopenia, Leukocytosis, Skin rash, Hyperammonemia,... ORPHA:292
Nephrotic Syndrome, Type 6
Hypoalbuminemia, Minimal change glomerulonephritis OMIM:614196
Peritoneal Cystic Mesothelioma
Neoplasm, Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain ORPHA:168816
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Decreased circulating antibody level... ORPHA:293978
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... ORPHA:391487
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Diarrhea, Vomiting, Eczematoid dermatitis, Lymphoma, Failure to thrive,... OMIM:212750
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, I... ORPHA:829
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Hepatomegaly, Lymphaden... ORPHA:33226
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level, Eosinophilia, Pancreatitis, Ly... ORPHA:449563
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t... ORPHA:60025
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Postinfectious Vasculitis
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... ORPHA:48435
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Ano... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Ano... ORPHA:100082
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Nausea and vomiting, Episodic abdominal pa... ORPHA:405
Glucagonoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97280
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis OMIM:616719
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Annular pancreas OMIM:618162
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Acute hepa... ORPHA:1667
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Somatostatinoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97283
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Proteus Syndrome
Rib exostoses, Exostosis of the external auditory canal, Cachexia, Visceral angiomatosis, Neoplas... ORPHA:744
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Erythrokeratodermia Variabilis
Neoplasm of the skin, Skin rash, Weight loss, Abnormal testis morphology, Diabetes mellitus ORPHA:317
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Lack of bowel sounds, Protracted diarrhea, Anorexia, Hypoactive bowel ... ORPHA:100080
Chronic Hiccup
Weight loss, Malnutrition ORPHA:396
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:79312
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Neuraminidase Deficiency
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells OMIM:256550
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Castleman Disease
Nausea and vomiting, Follicular hyperplasia, Intestinal obstruction, Anemia, Abnormality of the g... ORPHA:160
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Protein-losing enteropathy, Pericardial lymphangiectasia, Erysipelas, Intestinal... OMIM:235510
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233710
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreas... ORPHA:1672
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Pulmonary hypoplasia OMIM:616867
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Syndromic Diarrhea
Intractable diarrhea, Small for gestational age, Lymphopenia, Villous atrophy, Splenomegaly, Coli... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Hypocholesterolemia, Villous atrophy, Fee... OMIM:212065
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Seborrheic dermatitis, Acne, Secretory diarrhea OMIM:614441
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:257200
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Crimean-Congo Hemorrhagic Fever
Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Jaundice, Lymphaden... ORPHA:99827
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Skin ... ORPHA:793
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Anorexia, Elevated carcinoma antig... ORPHA:370348
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Thrombocytopenia, Hepat... ORPHA:77261
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Farber Disease
Diffuse reticular or finely nodular infiltrations, Recurrent upper respiratory tract infections, ... ORPHA:333
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Colitis, Chronic diarrhea, Bronchiectasis OMIM:301220
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death OMIM:601612
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss, Diabetes insipidus ORPHA:30925
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233690
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Cachexia, Steatorrhea, Chronic diarrhea ORPHA:3217
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Harderoporphyria
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Diffuse reticular or finely nodular infiltrations, Hypoxemia, Cyanosis ORPHA:91359
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abnormal lymph node morphology, Abnormality of the lymphatic system, Anemia, Weight los... ORPHA:54251
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Chilblains, Weight loss... OMIM:619487
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Chron... ORPHA:100075
Hennekam Syndrome
Ascites, Lymphopenia, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, Pulmon... ORPHA:2136
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Fulminant hepatic failure, Abdominal distention, Hype... OMIM:618528
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... OMIM:615234
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Failure to thrive, Hypocholesterolemia, Abnormal ... ORPHA:14
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Decreased circulating carnitine concentration, Hyperammonemia, Elevated ... OMIM:201475
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Skin rash, Infectious en... ORPHA:779
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra... OMIM:214500
Huntington Disease-Like 2
Weight loss ORPHA:98934
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Villous atrophy, Increa... OMIM:619377
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... ORPHA:549
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc... ORPHA:848
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Splenomegaly, Circulating immune complexes, Hepatomega... ORPHA:91138
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis OMIM:228000
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Impaired T cell function OMIM:201100
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in... ORPHA:3260
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Immunodeficiency 56
Cholangitis, Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Panhypogammaglobulinemia OMIM:615207
Takayasu Arteritis
Gastrointestinal infarctions, Increased inflammatory response, Anemia, Weight loss, Arthritis, An... ORPHA:3287
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai... ORPHA:79329
Barrett Esophagus
Barrett esophagus, Esophageal carcinoma, Gastroesophageal reflux, Esophageal ulceration OMIM:614266
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Weight l... ORPHA:309031
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Bifid uvula, Hepat... OMIM:222470
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Peritonitis, Abdominal pain ORPHA:656
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Abnorm... ORPHA:158048
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Pulmonary hypoplasia OMIM:256050
Alexander Disease Type I
Cachexia, Vomiting, Dysphagia, Failure to thrive ORPHA:363717
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Addison Disease
Diarrhea, Adrenal calcification, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, ... ORPHA:85138
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... ORPHA:31205
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Hyperammonemia, Keratoconjunctivitis... ORPHA:79242
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Gait disturbance ORPHA:183
Joubert Syndrome 33
Splenomegaly OMIM:617767
Imerslund-Gräsbeck Syndrome
Vomiting, Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... ORPHA:35858
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hepatic failure, Vomiting, Failure to thrive, Hyperbilirubinemia, Splenomegaly, ... OMIM:251880
Huriez Syndrome
Squamous cell carcinoma of the skin, Congenital palmoplantar hyperkeratosis OMIM:181600
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Cinca Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab... ORPHA:1451
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal mal... ORPHA:436252
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Reduced circulating complement co... ORPHA:289390
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Lissencephaly, Recurrent lower respiratory tract infections, Atelectasis, Pachygyria ORPHA:258
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Hypercalcemia, Infantile, 1
Vomiting, Failure to thrive, Hypercalcemia, Weight loss, Decreased circulating parathyroid hormon... OMIM:143880
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Hodgkin lymphoma, Elevated circulating C-reactive protein c... OMIM:619573
Short-Rib Thoracic Dysplasia 12
Neonatal death, Atelectasis, Pulmonary hypoplasia OMIM:269860
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Polymyositis
Gastrointestinal hemorrhage, Gastroesophageal reflux, Elevated circulating creatine kinase concen... ORPHA:732
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Anorexia, Abdominal pain, Elevated ... ORPHA:99826
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Polycystic ovaries, Chronic neutrop... ORPHA:79259
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss, Erythroderma, Poor appetite ORPHA:312
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Splenom... ORPHA:465508
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Reni Syndrome
Hypoalbuminemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism... OMIM:617575
Sitosterolemia 1
Stomatocytosis, Giant platelets, Splenomegaly, Reticulocytosis, Episodic hemolytic anemia, Thromb... OMIM:210250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thr... ORPHA:505248
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Granuloma, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granu... OMIM:306400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Decreased liver function, Hyperammonemia, Decreased serum zin... OMIM:617093
Huntington Disease-Like 1
Weight loss, Abnormal posturing ORPHA:157941
Liver Failure, Infantile, Transient
Hypoalbuminemia, Vomiting, Acute hepatic failure, Hyperbilirubinemia, Feeding difficulties in inf... OMIM:613070
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Decreased level of plasminogen, Conjunctivitis, Duodenal ulcer OMIM:217090
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Whipple Disease
Gastrointestinal hemorrhage, Uveitis, Diarrhea, Malabsorption, Splenomegaly, Infectious encephali... ORPHA:3452
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Incontinentia Pigmenti
Eosinophilia, Attention deficit hyperactivity disorder, Gait disturbance, Cognitive impairment ORPHA:464
Lujo Hemorrhagic Fever
Purpura, Atelectasis, Ecchymosis ORPHA:319213
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Gastrointestinal infarctions, Hyp... ORPHA:544482
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Hypocalcemia ORPHA:1438
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Weight loss, Increased circulat... OMIM:613239
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Anorexia, Chronic noninfectious lymphadenopathy,... ORPHA:100086
Liposarcoma
Abdominal pain, Sarcoma, Weight loss, Nausea and vomiting ORPHA:69078
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Lissencephaly, Simplified gyral pattern ORPHA:284417
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Caroli Disease
Cholelithiasis, Vomiting, Leukocytosis, Splenomegaly, Nausea, Abdominal pain, Abdominal rigidity,... ORPHA:53035
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Neoplasm of the ureth... ORPHA:2908
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Gastroesophageal reflux, Vomiting, Failure to thrive, Decreased liver function, ... OMIM:613658
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Tetrasomy 5P
Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal li... ORPHA:275761
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... ORPHA:231222
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon, Cachexia, Constipation, Abnormal circulating creatine concentration ORPHA:52503
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody leve... OMIM:181000
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hepatic failure, Vomiting, Acute hepatic failure, Hemolytic anemia... OMIM:277900
Isaacs Syndrome
Weight loss ORPHA:84142
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Acute leukemia, Abnormal eosinophil morphology, Microcytic a... ORPHA:906
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Lassa Fever
Jaundice, Increased circulating IgM level ORPHA:99824
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Absent uvula, Head titubation, Intestinal atres... OMIM:619708
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Nausea ... ORPHA:679
Aicardi-Goutieres Syndrome 7
Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Increased circulating antibody level, A... OMIM:615846
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Pancreatic fibrosis, Sclerosing cholangitis, Retroperitoneal fi... ORPHA:64744
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... OMIM:251260
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy ORPHA:99868
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Intestinal fistula, Zollinger-Ellison syndrome, Small... ORPHA:100078
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema ORPHA:2038
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... ORPHA:35710
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss, Mediastinal lymphadenopathy, Lymphocyti... ORPHA:133
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Hyperlipidemia, Hyperuricemia, Splenomegaly, Pancreati... OMIM:232220
Galloway-Mowat Syndrome 3
Hypoalbuminemia, High palate, Hiatus hernia, Failure to thrive OMIM:617729
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Smooth tongue, Failure to thrive, Squamous cell carcinoma of the skin, Gastrosto... ORPHA:79396
Kawasaki Disease
Hypoalbuminemia, Strawberry tongue, Diarrhea, Hepatitis, Cervical lymphadenopathy, Thrombocytosis... ORPHA:2331
Systemic Capillary Leak Syndrome
Diarrhea, Leukocytosis, Weight loss, Pancreatitis, Myocarditis, Abdominal pain, Multiple myeloma,... ORPHA:188
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Neoplasm of the heart, Nausea and vomiting, Cryptorchidism, A... ORPHA:2241
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:619183
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Anemia, Neutropenia, Throm... ORPHA:398124
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Splenomegaly, Weight loss, Inflammatory abnormality of the eye, Abdominal pa... ORPHA:33577
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatic failure, Splenomegaly, Increased body weight, Anemia,... ORPHA:905
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Attrv30M Amyloidosis
Diarrhea, Weight loss, Constipation ORPHA:85447
Klatskin Tumor
Abdominal pain, Weight loss, Cholangiocarcinoma, Lymphadenopathy ORPHA:99978
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Polymicrogyria, Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia OMIM:620371
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Bronchial Neuroendocrine Tumor
Pneumonia, Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Prot... ORPHA:97287
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Failure to thrive, Decreased liver function, Hyperalaninemia, Bile duct prolifer... OMIM:618329
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Diarrhea, Neuroendocrine neoplasm, Anorexia, Chronic noninfectious lym... ORPHA:100085
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Malnutrition, Pancreatic adenocarcino... ORPHA:103918
Renpenning Syndrome
High, narrow palate, Decreased testicular size, Cachexia, Anal atresia, Diabetes mellitus, Cleft ... ORPHA:3242
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss, Bronchiectasis, Lymphadenopathy ORPHA:411703
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Christianson Syndrome
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia ORPHA:85278
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Hepatic amyloidosis, Reduced circulating compl... ORPHA:470
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... ORPHA:760
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Riboflavin Transporter Deficiency
Hypogonadism, Cachexia, Diabetes insipidus, Dysphagia ORPHA:97229
Bullous Pemphigoid
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis, Diabetes mellitus ORPHA:703
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Hypocomplementemic Urticarial Vasculitis
Ascites, Reduced circulating complement concentration, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:36412
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Huntington Disease
Weight loss, Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Decreased... ORPHA:399
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Feeding difficulties ORPHA:529808
Mulibrey Nanism
Cachexia ORPHA:2576
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Feeding difficulties ORPHA:529799
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4... OMIM:275000
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... OMIM:620189
Thanatophoric Dysplasia
Gray matter heterotopia, Pulmonary hypoplasia ORPHA:2655
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Nasogastric tube feeding, Titubation, Dysphagia, Poor suck ORPHA:225147
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Non-Functioning Paraganglioma
Episodic abdominal pain, Weight loss, Paraganglioma of head and neck, Nausea, Hypercalcemia, Para... ORPHA:94080
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Failure to thrive, Elevated circulating creatine kinase concentration, Small for... OMIM:619055
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of complement system, Splenomegaly, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:2348
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss, Hyperthyroidism, Goiter OMIM:188580
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Abnormal large intestine morphology, Lymphoma, Capillary hemangioma, Meningioma... ORPHA:109
Gaucher Disease, Type I
Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:230800
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Anemia,... OMIM:606003
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia OMIM:619879
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Neonatal death, Pulmonary hypoplasia OMIM:187600
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Neonatal death, Jaundice, Pulmonary hypoplasia OMIM:231680
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Hiatus hernia, High palate, Small for gestational age, Feeding difficulties OMIM:251300
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... OMIM:233450
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Facial capillary hemangioma, Cryptorchidism, Abdominal distention, Precoc... OMIM:270400
Acrodermatitis Enteropathica
Failure to thrive, Furrowed tongue, Malabsorption, Chronic diarrhea, Pustule, Weight loss, Anorex... ORPHA:37
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Abnormal pulmonary thoracic imaging f... ORPHA:980
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... OMIM:257220
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A... OMIM:223370
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Malt Lymphoma
Posterior uveitis, Abnormality of the thyroid gland, Nausea and vomiting, B-cell lymphoma, Consti... ORPHA:52417
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis ORPHA:86884
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Jejunal atresia, Increased circulating very long-chain fatty acid... OMIM:609313
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Increased ... ORPHA:355
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Malnutrition, Schwannoma, Neoplasm, Weight loss, Odynophagia, Feeding ... ORPHA:221098
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Huntington Disease-Like 2
Weight loss OMIM:606438
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Glycogen Storage Disease Ic
Inflammation of the large intestine, Cyclic neutropenia, Hyperlipidemia, Gout, Hyperuricemia, Chr... OMIM:232240
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Failure to thrive, Hyperbilirubinemia, Hype... OMIM:617156
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Malabsorption, Nausea and vomiting, Abdominal... ORPHA:537
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Odontochondrodysplasia 1
Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:184260
Fumarase Deficiency
Hepatic failure, Cutaneous leiomyoma, Failure to thrive, Polycythemia, Hyperbilirubinemia, High p... OMIM:606812
Renal-Hepatic-Pancreatic Dysplasia 2
Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation OMIM:615415
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia ORPHA:2847
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Dysphagia, Normochromic anemia OMIM:254900
Xfe Progeroid Syndrome
Hypoalbuminemia, Cachexia, Failure to thrive OMIM:610965
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Skin rash, Elevated circulating creatine kinase concentration, Myosi... ORPHA:93672
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Double Outlet Right Ventricle
Pulmonary artery atresia, Cyanosis ORPHA:3426
Dystonia 1, Torsion, Autosomal Dominant
Dysphagia, Abnormal posturing OMIM:128100
Chiari Malformation Type Ii
Gray matter heterotopia, Cyanosis OMIM:207950
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexi... ORPHA:1979
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Decreased liver function, Hyperammonemia, Elevated circulating creatine kinas... ORPHA:42
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly OMIM:235555
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Cachexia ORPHA:884
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anemia ORPHA:1842
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Weight loss OMIM:180300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Simplified gyral pattern OMIM:614407
Neuroblastoma, Susceptibility To, 1
Diarrhea, Failure to thrive, Ganglioneuroblastoma, Ganglioneuroma, Weight loss, Neuroblastoma, An... OMIM:256700
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol... ORPHA:90291
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice, Bronchiectasis, Bronchitis ORPHA:60
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Decreased level of plasminogen, Duodenal ulcer, Cervicitis ORPHA:722
Disabling Pansclerotic Morphea Of Childhood
Squamous cell carcinoma of the skin OMIM:620443
Chand Syndrome
Atelectasis ORPHA:1401
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Kaposiform Lymphangiomatosis
Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Abnorma... ORPHA:464329
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Abdominal pain... ORPHA:36426
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Abnormality of the hypothalamus-pituitary axis, Nausea and vomiting,... ORPHA:900
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Nause... ORPHA:90068
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We... ORPHA:424
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... OMIM:607765
Neuroblastoma
Elevated circulating catecholamine level, Increased circulating ferritin concentration, Neoplasm ... ORPHA:635
Relapsing Polychondritis
Erythema, Purpura, Atelectasis ORPHA:728
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Japanese Encephalitis
Neutrophilia, Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:618316
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin... ORPHA:91500
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Anorexia, Cervical lymphadenopathy, Leukopenia, Malar rash, Enlar... ORPHA:50918
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Anorexia, Anem... ORPHA:520
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Anomalous pulmonary venous return ORPHA:555874
Juvenile Huntington Disease
Weight loss ORPHA:248111
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... OMIM:607625
Gm1 Gangliosidosis
Gastroesophageal reflux, Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Splenomegal... ORPHA:354
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis ORPHA:98914
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis ORPHA:590
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy OMIM:617478
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Biliary h... ORPHA:567983
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pachygyria, Lissencephaly, Pulmonary hypoplasia ORPHA:86822
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic a... ORPHA:809
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Increased HDL cholesterol concentration, Osteomyelitis, Obes... ORPHA:70591
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level, Neutrophilia, Hepatomegaly ORPHA:99843
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Hepatic failure OMIM:619431
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia OMIM:274000
Dravet Syndrome
Cyanotic episode ORPHA:33069
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl... ORPHA:288
Acute Adrenal Insufficiency
Normocytic anemia, Diarrhea, Failure to thrive, Androgen insufficiency, Increased circulating ACT... ORPHA:95409
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:618641
Microcephaly-Micromelia Syndrome
Neonatal death, Simplified gyral pattern, Pulmonary hypoplasia OMIM:251230
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Anemia, Oligoarthritis, I... ORPHA:85408
Polycythemia Vera
Early satiety, Gastrointestinal hemorrhage, Acute leukemia, Polycythemia, Leukocytosis, Splenomeg... ORPHA:729
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... OMIM:613812
Behçet Disease
Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Endocarditis, Gastrointestinal hemorr... ORPHA:117
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis, Cutaneous melanoma OMIM:278720
Pancreatoblastoma
Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Weight loss, Abdomi... ORPHA:677
Yellow Fever
Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inter... ORPHA:99829
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Otitis media, Cryptorchidism, Spl... OMIM:612541
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia OMIM:612852
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Premature graying of hair OMIM:620365
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Keratoconjunctivitis s... ORPHA:79128
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Cartilage-Hair Hypoplasia
Anemia, Neutropenia, Hepatomegaly, Decreased circulating antibody level, Abnormality of the pancreas ORPHA:175
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Recurrent lower respiratory tract infections, Death in childhood, Death in infancy OMIM:618426
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly OMIM:616028
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Atelectasis ORPHA:534
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Minimal change glomerulonephritis, Hyperlipidemia, Abdominal pain, Hydrocele testis ORPHA:567546
Giant Cell Arteritis
Hepatic failure, Gastrointestinal infarctions, Weight loss, Arthritis, Anorexia, Abdominal pain, ... ORPHA:397
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hyperkeratosis ORPHA:79431
Meacham Syndrome
Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal death, Death in inf... OMIM:608978
Williams Syndrome
Nausea and vomiting, Cryptorchidism, Type II diabetes mellitus, Polycystic ovaries, Abdominal pai... ORPHA:904
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Elevated circulating long chain fatt... OMIM:214110
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Psoriasif... ORPHA:49041
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Weight loss, Chronic diarrhea, Bowel inconti... ORPHA:330001
22Q11.2 Deletion Syndrome
Purpura, Atelectasis, Abnormal lung lobation ORPHA:567
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Narrow palate, High palate, Gastroesophageal reflux OMIM:618186
Nijmegen Breakage Syndrome
Acute leukemia, Anal stenosis, Glioma, Recurrent pneumonia, Lymphoma, Anorectal anomaly, Neoplasm... ORPHA:647
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Constipation, Feeding difficulties OMIM:616801
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Pulmonary hypoplasia OMIM:616897
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We... ORPHA:99819
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Episodic abdominal pain, Adrenal pheochromocytoma, Weight loss, Pa... ORPHA:276621
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Familial Thrombocytosis
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis ORPHA:71493
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon... OMIM:615512
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Diarrhea, Increased circulati... ORPHA:99889
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Episodic abdominal pain, Arachnoid h... ORPHA:29072
Scleromyxedema
Paraproteinemia ORPHA:167635
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Miscarriage, Pulmonary hypoplasia ORPHA:96179
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... OMIM:607626
Familial Dysautonomia
Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections ORPHA:1764
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss ORPHA:3208
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Pyomyositis
Testicular teratoma, Leukocytosis, Myositis, Weight loss, Recurrent cutaneous abscess formation ORPHA:764
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Slender buil... ORPHA:93932
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Esophageal Atresia
Cyanosis, Recurrent respiratory infections, Bronchitis, Pulmonary hypoplasia ORPHA:1199
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Aredyld Syndrome
Type I diabetes mellitus, Type II diabetes mellitus, Splenomegaly, Cachexia, Refractory anemia wi... ORPHA:1133
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Elevated circulating creatine kinase concentration ORPHA:1933
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Gastroesophageal reflux, Failure to thrive in infancy, ... ORPHA:813
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,... ORPHA:141127
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Abdominal pain ORPHA:163746
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Abnormal circulating selenium concentration, Cutaneous melanoma, Anal fi... ORPHA:79408
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Perry Syndrome
Weight loss ORPHA:178509
Unilateral Polymicrogyria
Perisylvian polymicrogyria, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Anomalous pulmonary venous return ORPHA:99104
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Tarp Syndrome
Cyanosis, Pulmonary hypoplasia ORPHA:2886
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... ORPHA:3384
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Diarrhea, Urinary bladder inflammation, Fasciitis, Pancytope... ORPHA:99921
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Neonatal de... OMIM:601186
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Pleural effusion, Cyanosis OMIM:261740
Ethylene Glycol Poisoning
Pulmonary edema, Cyanosis ORPHA:31826
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Leukopenia, Thrombocytosis, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, R... ORPHA:20
Beta-Ketothiolase Deficiency
Vomiting, Diarrhea, Thrombocytosis, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Ano... ORPHA:134
Trichothiodystrophy
Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia, Panhypogammaglobulinemia ORPHA:33364
Gaucher Disease, Perinatal Lethal
Neonatal death, Purpura, Petechiae, Pulmonary hypoplasia OMIM:608013
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis ORPHA:99106
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ... OMIM:602782
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ... ORPHA:185
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention OMIM:619362
Diaphanospondylodysostosis
Polymicrogyria, Pulmonary hypoplasia OMIM:608022
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Vomiting, Allergic conjunctivitis, Delayed puberty, Diabetes mellitus, Small f... OMIM:176690
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Head titubation, Dysphagia, Gastrostomy tube feeding in infancy ORPHA:300605
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Cyanosis ORPHA:1329
Fraser Syndrome 2
Intestinal malrotation, Hypoplasia of the thymus, Rectal atresia, Abdominal distention, Anal atresia OMIM:617666
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Graves disease, Hypomagnesemia, Obesity, Constipation, Weight loss, Hyperth... ORPHA:79102
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Pulmonary hypoplasia ORPHA:1865
Reynolds Syndrome
Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice OMIM:613471
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, High palate, Median cleft palate ORPHA:40366
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention OMIM:619351
Pemphigus Vulgaris
Feeding difficulties in infancy, Weight loss, Recurrent cutaneous abscess formation, Feeding diff... ORPHA:704
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Death in childhood, Prolonged neonatal jaundice, Gray matter heterotopia, Pulmona... OMIM:214100
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly OMIM:231005
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Constipation, Nasogastric tube feeding in infancy, Feeding di... ORPHA:371364
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly ORPHA:565612
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, Delayed pu... OMIM:617137
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Nocardiosis
Pneumonia, Vomiting, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious encep... ORPHA:31204
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... OMIM:123700
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Peritonitis, Neutrophilia, Hepatomegaly OMIM:249100
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Cushing Disease
Memory impairment, Depression, Lymphopenia, Leukocytosis, Emotional lability, Dementia, Decreased... ORPHA:96253
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm, Cutaneous melanoma OMIM:610651
Simpson-Golabi-Behmel Syndrome
Polysplenia, Increased circulating IgE level, Splenomegaly, Pancreatic islet-cell hyperplasia, He... ORPHA:373
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Seborrheic d... ORPHA:96123
Granulomatosis With Polyangiitis
Keratitis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis m... OMIM:608710
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Anemia, Splenomegaly OMIM:239200
Acquired Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:95626
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Rett Syndrome
Cachexia, Gastroesophageal reflux, Constipation OMIM:312750
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis ORPHA:3427
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin, Skin rash ORPHA:220295
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Hepatomegaly, Splenomegaly OMIM:612132
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Kagami-Ogata Syndrome
Pulmonary hypoplasia OMIM:608149
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Weight loss, Dysphagia, Mildly elevated creatine ki... OMIM:607459
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Pancreatitis, Thrombocytopenia, Hepatomegaly OMIM:222700
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Viss Syndrome
Increased circulating IgE level, Decreased circulating IgA level, Hypereosinophilia, Increased ci... OMIM:619472
Sarcoidosis
Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:797
Histiocytoid Cardiomyopathy
Pulmonary edema, Cyanosis ORPHA:137675
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Nasal mucosa telangiectasia... OMIM:187300
Osteosarcoma
Weight loss ORPHA:668
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Squamous cell carcinoma of the skin, Malabsorption, Weight loss, Neu... ORPHA:79430
Bardet-Biedl Syndrome
Inflammation of the large intestine, Decreased HDL cholesterol concentration, Hypogonadism, Decre... ORPHA:110
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,... ORPHA:30391
Infantile Krabbe Disease
Vomiting, Gastroesophageal reflux, Failure to thrive, Cachexia, Nasogastric tube feeding in infan... ORPHA:206436
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Weight loss, Hyperkalemia, Abnormal circulating dehydroepiandrosterone conc... ORPHA:90794
8P23.1 Microdeletion Syndrome
High palate, Weight loss, Obesity, Cryptorchidism ORPHA:251071
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Treacher-Collins Syndrome
Rectovaginal fistula, Failure to thrive, Cryptorchidism, Glossoptosis, Hypoplasia of the thymus, ... ORPHA:861
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Amyotrophic Lateral Sclerosis
Xerostomia, Nausea and vomiting, Cachexia, Dysphagia, Tongue atrophy ORPHA:803
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Pulmonary arteriovenous malformatio... OMIM:610655
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Hypogonadism, Leukopenia... ORPHA:84
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Pagod Syndrome
Pulmonary artery hypoplasia, Death in infancy, Abnormality of the pulmonary artery, Abnormality o... ORPHA:991
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Nausea and vomiting... ORPHA:91347
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis ORPHA:99103
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:208500
Dermatomyositis
Abnormal eosinophil morphology, Heliotrope rash, Lymphoma, Neoplasm, Skin rash, Lung adenocarcino... ORPHA:221
Digeorge Syndrome
Recurrent pneumonia, Recurrent sinusitis, Atelectasis OMIM:188400
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Failure to thrive, Hypomagnesem... OMIM:219800
Mosaic Trisomy 1
Polymicrogyria, Pulmonary artery atresia, Pulmonary hypoplasia ORPHA:1692
Achondroplasia
Death in infancy, Pulmonary hypoplasia OMIM:100800
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Bowel incontinence ORPHA:702
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
19Q13.11 Microdeletion Syndrome
Failure to thrive, Supernumerary nipple, Cryptorchidism, Cachexia, Feeding difficulties ORPHA:217346
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Gastroesophageal reflux, Failure to thrive, Increased circulating ferritin conce... OMIM:619534
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Celiac disease, Recurrent otitis media,... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Celiac disease, Recurrent otitis media,... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Celiac disease, Recurrent otitis media,... ORPHA:99226
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Celiac disease, Recurrent otitis media,... ORPHA:881
Menke-Hennekam Syndrome 2
Duodenal ulcer, Chronic constipation OMIM:618333
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Weight loss, Lupus nephritis, Lymphadenopathy, Arthri... ORPHA:536
Short Syndrome
Weight loss, Diabetes mellitus, Poor appetite ORPHA:3163
Distal Triplication 15Q
Pulmonary hypoplasia ORPHA:314588
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
Raine Syndrome
Neonatal death, Death in infancy, Pulmonary hypoplasia OMIM:259775
Lethal Congenital Contracture Syndrome 10
Narrow palate, High palate, Macroglossia, Hypoplasia of the thymus OMIM:617022
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Total anomalous pulmonary venous return, Cyanosis OMIM:306955
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Decreased testicular size, Obesity, Cachexia, High palate ORPHA:85293
Acrocephalopolydactylous Dysplasia
Extrapulmonary lobar sequestration, Pulmonary hypoplasia OMIM:200995
Porphyria, Congenital Erythropoietic
Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Throm... OMIM:263700
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Stuve-Wiedemann Syndrome 1
Death in infancy, Premature skin wrinkling, Pulmonary arterial medial hypertrophy, Pulmonary hypo... OMIM:601559
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia OMIM:619148
Brooke-Spiegler Syndrome
Neoplasm OMIM:605041
Erdheim-Chester Disease
Osteomyelitis, Nausea and vomiting, Skin rash, Hypogonadotropic hypogonadism, Weight loss, Anemia... ORPHA:35687
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Genitopatellar Syndrome
Pulmonary hypoplasia ORPHA:85201
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Stillbirth, Pulmonary hypoplasia OMIM:308050
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Trichinellosis
Increased circulating IgE level ORPHA:863
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P... ORPHA:731
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Failure to thrive, Pancreatic hypoplasia, Intestinal malrotation, ... OMIM:600001
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin OMIM:278700
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Eec Syndrome
Xerostomia, Keratitis, Lymphoma, Decreased response to growth hormone stimulation test, Anterior ... ORPHA:1896
Hereditary Late-Onset Parkinson Disease
Weight loss, Dysphagia, Chronic constipation ORPHA:411602
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Pulmonary hypoplasia OMIM:616300
Criss-Cross Heart
Cyanosis ORPHA:1461
Oculopharyngodistal Myopathy 1
High palate, Weight loss, Dysphagia, Elevated circulating creatine kinase concentration OMIM:164310
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Perry Syndrome
Weight loss OMIM:168605
Fontaine Progeroid Syndrome
Premature skin wrinkling, Periventricular heterotopia, Reduced subcutaneous adipose tissue, Death... OMIM:612289
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Death in infancy OMIM:252010
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Congenital Myopathy 22B, Severe Fetal
Pleural effusion, Pulmonary hypoplasia OMIM:620369
Autosomal Recessive Multiple Pterygium Syndrome
Pulmonary hypoplasia ORPHA:2990
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis OMIM:620423
Greenberg Dysplasia
Neonatal death, Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation OMIM:215140
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Pulmonary hypoplasia OMIM:616546
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Trisomy 18
Cryptorchidism, Cachexia, Anal atresia, Esophageal atresia, Narrow palate, Cleft palate ORPHA:3380
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Aspiration pneumonia, Weight loss, Nasogastric tube feeding in infancy, High p... ORPHA:2020
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Cyanosis ORPHA:293987
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Combin... OMIM:130050
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:79432
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Mucolipidosis Type Ii
Hepatosplenomegaly, Otitis media, Splenomegaly, Gastrostomy tube feeding in infancy, Weight loss,... ORPHA:576
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Aortic Arch Interruption
Aortopulmonary window, Cyanosis ORPHA:2299
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia, Abnormality of the thyroid gland, Anorexia ORPHA:1969
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Cyanosis, Pulmonary artery stenosis, Infracard... ORPHA:99125
Mosaic Trisomy 16
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Pulmonary hypoplasia OMIM:263520
Renal Nutcracker Syndrome
Anemia, Abdominal pain, Weight loss, Nausea ORPHA:71273
Choreoacanthocytosis
Acanthocytosis, Protruding tongue, Splenomegaly, Elevated circulating creatine kinase concentrati... ORPHA:2388
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
African Trypanosomiasis
Myelitis, Diarrhea, Keratitis, Vomiting, Hepatosplenomegaly, Abnormality of circulating cortisol ... ORPHA:3385
Myasthenia Gravis
Acrocyanosis ORPHA:589
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Testicular torsion, Decreased testicular size, Elevated circulating creatin... ORPHA:800
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Neonatal death, Stillbirth, Lissencephaly... OMIM:256520
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Pulmon... ORPHA:363618
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Dyskeratosis Congenita, Autosomal Dominant 1
Squamous cell carcinoma of the skin, Myelodysplasia OMIM:127550
Ogden Syndrome
Peripheral pulmonary artery stenosis, Facial wrinkling, Pulmonary edema, Pulmonary artery stenosi... OMIM:300855
Alg9-Cdg
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:79328
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia OMIM:265000
Pmm2-Cdg
Hypoalbuminemia, Vomiting, Failure to thrive, Increased circulating prolactin concentration, Aspi... ORPHA:79318
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Fryns Syndrome
Chylothorax, Stillbirth, Pulmonary hypoplasia OMIM:229850
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Pulmonary hypoplasia ORPHA:536471
Smith-Lemli-Opitz Syndrome
Cutis marmorata, Abnormal lung lobation, Cutaneous photosensitivity, Pulmonary hypoplasia ORPHA:818
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Restrictive Dermopathy 1
Neonatal death, Prominent superficial blood vessels, Stillbirth, Pulmonary hypoplasia OMIM:275210
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Cryptorch... ORPHA:2152
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia OMIM:617063
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortopulmonary window, Pulmonary hypoplasia OMIM:620025
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Weight lo... ORPHA:99885
Cockayne Syndrome
Gastroesophageal reflux, Absence of pubertal development, Malar rash, Cryptorchidism, Hyperuricem... ORPHA:191
Eisenmenger Syndrome
Aortopulmonary window, Hypoxemia, Cyanosis ORPHA:97214
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Gastroesophageal reflux, Absent nipple, Ankyloglossia, Congenital hypothyroidism, Ap... OMIM:620186
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:2753
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Fetal Akinesia Deformation Sequence 1
Stillbirth, Pulmonary hypoplasia OMIM:208150
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... ORPHA:740
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Increased serum testoster... OMIM:264090
Stickler Syndrome
Bifid uvula, Gastroesophageal reflux, Slender build, Short hard palate, Feeding difficulties in i... ORPHA:828
Tetrasomy 9P
Polymicrogyria, Pachygyria, Jaundice, Lissencephaly, Pulmonary hypoplasia ORPHA:3310
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary artery stenosis, Miscarriage, Lissencephaly, Pulmonary hypoplasia ORPHA:96334
Distal Deletion 15Q
Pulmonary hypoplasia ORPHA:1596
Camurati-Engelmann Disease
Hypogonadism, Slender build, Leukopenia, Splenomegaly, Feeding difficulties in infancy, Cachexia,... ORPHA:1328
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis ORPHA:51
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon, Submucous cleft hard palate, Congeni... ORPHA:1662
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency, Absent gallbladder ORPHA:500150
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Fraser Syndrome 1
Abnormal cortical gyration, Pulmonary hypoplasia OMIM:219000
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level ORPHA:261537
Osteogenesis Imperfecta
Bruising susceptibility, Pulmonary hypoplasia ORPHA:666
Meckel Syndrome, Type 1
Pulmonary hypoplasia OMIM:249000
Cardiac-Urogenital Syndrome
Partial anomalous pulmonary venous return, Scimitar anomaly, Pulmonary hypoplasia OMIM:618280
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc... ORPHA:287
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Fraser Syndrome
Pulmonary hypoplasia, Death in infancy, Abnormal lung lobation ORPHA:2052
Marfan Syndrome
High, narrow palate, Slender build, Cachexia, Arthralgia/arthritis, Cleft palate ORPHA:558
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Decreased circulating antibody level ORPHA:261552
Seckel Syndrome
Cachexia ORPHA:808
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia, Pulmonary hypoplasia OMIM:606170
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Neoplasm, Spinal cord tumor, Pilomatrixoma, Meningioma ORPHA:353281
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pilomatrixoma, Meningioma ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pilomatrixoma, Meningioma ORPHA:353277
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia ORPHA:93271
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Dementia, Memory impairment, Frontotemporal dementia OMIM:619132
Norrie Disease
Failure to thrive, Cryptorchidism, Neoplasm of the eye, Cachexia, Delayed puberty, Diabetes melli... ORPHA:649
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Bruising susceptibility ORPHA:285
Pallister-Killian Syndrome
Stillbirth, Pulmonary hypoplasia OMIM:601803
Craniofacial Microsomia 1
Pulmonary hypoplasia OMIM:164210
Microphthalmia, Syndromic 1
Pulmonary hypoplasia OMIM:309800
Familial Multiple Trichoepithelioma
Basal cell carcinoma ORPHA:867
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211

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 Cyld

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 Cyld.

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

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
Cyldtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Cyldtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cyldem2(IMPC)Marc Deletion Mice

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