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Gene: Ebf1 MGI:95275

Gene Summary

Name:

early B cell factor 1

Synonyms:

O/E-1, Olf1, Olf-1

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	Allele	Zyg	Life Stage	P Value
increased circulating serum albumin level	Ebf1^em1(IMPC)Mbp	HET	Early adult	4.04×10^-05
enlarged spleen	Ebf1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Ebf1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Ebf1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Ebf1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal heart morphology	Ebf1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Ebf1^em1(IMPC)Mbp	HET	Late adult	0.00
decreased prepulse inhibition	Ebf1^em1(IMPC)Mbp	HET	Early adult	1.97×10^-06
abnormal spleen morphology	Ebf1^em1(IMPC)Mbp	HET	Late adult	0.00
no spontaneous movement	Ebf1^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal placenta morphology	Ebf1^em1(IMPC)Mbp	HOM	E18.5	0.00
small heart	Ebf1^em1(IMPC)Mbp	HET	Late adult	0.00
no spontaneous movement	Ebf1^em1(IMPC)Mbp	HET	E18.5	0.00
preweaning lethality, incomplete penetrance	Ebf1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Ebf1^em1(IMPC)Mbp	HET	Late adult	0.00
small spleen	Ebf1^em1(IMPC)Mbp	HET	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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Gross Morphology Embryo E18.5

Images

5 Images

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Histopathology

Images

3 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Ebf1 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.

Human diseases associated with Ebf1 (0 diseases)
Human diseases predicted to be associated with Ebf1 (1239 diseases)

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

The table below shows human diseases predicted to be associated to Ebf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin...	OMIM:615615
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618987
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop...	OMIM:618459
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr...	OMIM:619924
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl...	OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul...	OMIM:613500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula...	OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga...	OMIM:613502
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ...	OMIM:620430
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, D...	OMIM:619281
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia	OMIM:615214
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia...	OMIM:300400
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc...	OMIM:618534
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific antibody r...	OMIM:301082
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n...	OMIM:615401
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence...	OMIM:607594
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti...	OMIM:611926
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating...	OMIM:613501
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen...	OMIM:619220
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp...	OMIM:619846
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c...	OMIM:619510
Immunodeficiency 52	Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod...	OMIM:617514
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c...	OMIM:308240
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos...	OMIM:618982
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ...	ORPHA:98813
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce...	OMIM:240500
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ...	OMIM:601859
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas...	OMIM:614069
Immunodeficiency 15B	Monocytosis, Decreased circulating antibody level, Agammaglobulinemia, Reduced natural killer cel...	OMIM:615592
Eiken Syndrome	Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Epiphyseal dyspl...	ORPHA:79106
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory...	OMIM:618394
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Hypoplasia of the pons, Agenesis of corpus callosum, Abnormality of the anterior c...	OMIM:617542
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease...	OMIM:615767
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul...	OMIM:212050
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Adult Idiopathic Neutropenia	Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia	ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Immunodeficiency 96	Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-...	OMIM:619774
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal...	OMIM:269840
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot...	OMIM:620210
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ...	OMIM:603909
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody level, Splenom...	ORPHA:397596
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:618108
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level...	OMIM:608106
Immunodeficiency 27A	Anemia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Hepatospl...	OMIM:209950
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr...	OMIM:619802
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Cer...	OMIM:604213
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho...	OMIM:614470
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level	OMIM:300310
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Mu-Heavy Chain Disease	Splenomegaly, Anemia, Increased circulating antibody level, Abnormal B cell count	ORPHA:100024
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased circulating IgG leve...	OMIM:616100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L...	ORPHA:277
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,...	OMIM:241600
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame...	OMIM:615285
Immunodeficiency 10	Increased circulating IgG3 level, Autoimmune hemolytic anemia, Increased circulating IgA level, A...	OMIM:612783
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Increased total...	OMIM:619868
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly...	OMIM:612782
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Immunodeficiency 22	Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p...	OMIM:615758
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu...	OMIM:600638
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 76	B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia	OMIM:619164
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe...	OMIM:300853
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired...	OMIM:308230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou...	OMIM:242860
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocy...	OMIM:231095
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 92	Abnormal B cell proliferation, Thrombocytosis, Decreased proportion of class-switched memory B ce...	OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir...	ORPHA:169154
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr...	OMIM:617099
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Thrombocytop...	OMIM:618048
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Immunodeficiency 68	B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ...	ORPHA:2114
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B...	OMIM:102700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616910
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo...	OMIM:619374
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Thrombocytopenia	ORPHA:83313
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc...	ORPHA:90362
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Absent isohemaggl...	OMIM:615559
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Decreased circulating antibody level	OMIM:301045
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia	ORPHA:217390
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 115 With Autoinflammation	Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc...	OMIM:620632
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count	OMIM:616050
Kerion Celsi	Lymphadenopathy	ORPHA:499
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,...	OMIM:614700
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys...	OMIM:613101
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep...	ORPHA:158057
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:169160
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Tyrosinemia Type 1	Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Acute hepatic failure, Spleno...	ORPHA:882
Bile Acid Conjugation Defect 1	Rickets, Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:619232
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Thin corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pachygyria, Abnormality of the anteri...	ORPHA:572013
Transcobalamin Ii Deficiency	Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu...	OMIM:275350
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De...	OMIM:617780
Lissencephaly 9 With Complex Brainstem Malformation	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia...	OMIM:618325
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig...	OMIM:300755
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Jessner Lymphocytic Infiltration Of The Skin	Abnormal lymphocyte morphology	ORPHA:33314
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr...	ORPHA:1952
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Leukopenia	ORPHA:33355
Dyskeratosis Congenita, Autosomal Recessive 8	B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia	OMIM:620133
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	ORPHA:436159
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Cutaneous abscess, Eosinophilia...	OMIM:243700
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Abnor...	ORPHA:83451
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame...	OMIM:254450
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b...	OMIM:600081
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis	OMIM:620357
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr...	ORPHA:276
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia	ORPHA:158014
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia	OMIM:618495
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level...	OMIM:615816
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Cerebellar hypoplasia, Abnormal...	ORPHA:300570
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a...	OMIM:600802
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Ddost-Cdg	Osteopenia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Lipodystr...	ORPHA:300536
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:300554
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibo...	OMIM:613011
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Osteoporosis	OMIM:618234
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Splenomegaly	OMIM:300635
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD...	OMIM:150550
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isoform...	OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Decreased circulating IgG level...	OMIM:301078
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev...	OMIM:602450
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly...	ORPHA:221139
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level...	OMIM:601495
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Burkitt Lymphoma	Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ...	ORPHA:543
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia	OMIM:615190
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal adipose tissu...	ORPHA:93160
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG level, Thrombocy...	OMIM:620603
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Chondrocalcinosis, Increased sus...	OMIM:146300
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Polycystic liver disease	OMIM:109130
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Loss of subcutaneous adipo...	OMIM:615381
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:241530
Thrombocytopenia 6	Thrombocytopenia, Myelofibrosis, Osteoporosis	OMIM:616937
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natural killer cell...	ORPHA:158061
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Increased circulating IgE level	OMIM:620532
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela...	OMIM:301000
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a...	ORPHA:572
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Familial Hemophagocytic Lymphohistiocytosis	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, H...	ORPHA:540
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Enamel h...	OMIM:277440
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase c...	ORPHA:369
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped ...	OMIM:307800
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Adrenomyodystrophy	Reduced bone mineral density, Hepatic steatosis	ORPHA:977
Acquired Partial Lipodystrophy	Lymphocytosis, Decreased circulating complement C3 concentration	ORPHA:79087
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased lym...	OMIM:606367
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hammertoe	OMIM:618400
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Enamel h...	OMIM:264700
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis,...	ORPHA:79303
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Neutr...	ORPHA:331235
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Hepatosple...	OMIM:615122
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level	OMIM:618523
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia	OMIM:616576
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Leishmaniasis	Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko...	ORPHA:507
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Splenomegaly, Acute myelomono...	ORPHA:86843
Peeling Skin Syndrome 1	Eosinophilia, Increased circulating IgE level	OMIM:270300
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets	OMIM:193100
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:620040
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b...	OMIM:300009
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepati...	OMIM:607765
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Scarring, Osteopenia, Inguinal hernia, Femoral hernia, Osteoporosis, Coxa vara, Joint st...	ORPHA:1901
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal long bone morphology, Calvarial hyperostosis, Pathologic fracture, Hepatic steatosis, Os...	ORPHA:52430
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati...	OMIM:300972
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Increased susceptibility to fractures, Hepatomegaly, Delayed epiphyseal ossification, Fe...	ORPHA:289157
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ...	OMIM:301074
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Icf Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia	ORPHA:2268
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:602390
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Ataxia-Telangiectasia	Decreased circulating antibody level, Lymphopenia	ORPHA:100
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Bone cyst, Low posterior hairline, Adipose tissue loss, Low anterior hai...	ORPHA:528
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:608540
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:615577
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Anemia, Increased B cell count, Increased T ce...	OMIM:620376
Mucopolysaccharidosis-Plus Syndrome	Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Leukopenia, Splenomegaly, T...	OMIM:617303
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,...	ORPHA:91139
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega...	OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc...	OMIM:267700
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Anemia	OMIM:603278
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple...	ORPHA:449400
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, ...	OMIM:226990
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Gray Platelet Syndrome	Thrombocytopenia, Myelofibrosis, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased lym...	OMIM:615468
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Iron deficiency anemia, Tooth abscess, Osteomalacia, Bowing of the legs	ORPHA:89937
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Anemia, Panhypogammaglobulinemia, Pancytopen...	ORPHA:79124
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Tafro Syndrome	Hepatomegaly, Anemia, Myelofibrosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytop...	ORPHA:457077
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decreased circulat...	ORPHA:508533
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Osteopetrosis, Autosomal Recessive 7	Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total IgM, Decreased...	OMIM:612301
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Generalized lipodystrophy, Hirsutism, Reduced subcutaneous adipose tissue, Hepatosp...	OMIM:612526
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin...	ORPHA:90045
Mogs-Cdg	Decreased circulating antibody level, Decreased circulating IgG level, Hepatosplenomegaly, Thromb...	ORPHA:79330
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Inguinal hernia, Brittle hair, Limitation of joint mobility, Osteoporosis, Generali...	OMIM:236200
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Thrombocytop...	OMIM:620005
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Secondary Intestinal Lymphangiectasia	Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, Decreased ci...	ORPHA:90363
Tularemia	Anemia, Increased circulating antibody level, Leukocytosis, Thrombocytopenia, Cutaneous abscess, ...	ORPHA:3392
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatosplenomegaly, Splenomegaly, Enlarged platelet dense granule...	OMIM:608233
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Plin1-Related Familial Partial Lipodystrophy	Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in ...	ORPHA:280356
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cholesta...	OMIM:619377
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Increased to...	OMIM:618528
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Osteoarthritis, Hepatic steatosis	OMIM:606069
Bloom Syndrome	Acute myeloid leukemia, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-...	ORPHA:125
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia	OMIM:611590
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of truncal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue from upper limbs...	OMIM:608709
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Chylomicron Retention Disease	Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia	OMIM:246700
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia	OMIM:618805
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ...	ORPHA:103910
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	OMIM:615952
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, Lo...	ORPHA:2959
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Increased circulating IgE level, Leukocytosis	ORPHA:2902
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple...	OMIM:614034
Acquired Generalized Lipodystrophy	Cirrhosis, Generalized lipodystrophy, Panniculitis, Hepatomegaly, Unicameral bone cyst, Acute pan...	ORPHA:79086
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ...	OMIM:603554
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia	OMIM:619013
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Thrombocytopeni...	OMIM:304790
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,...	OMIM:615438
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia	OMIM:618165
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre...	ORPHA:297
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, B lymphocytopenia, Decreased proportion of naive T cells...	OMIM:619381
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615966
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventricular septal defect	OMIM:616589
Fanconi-Bickel Syndrome	Rickets, Osteopenia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma, ...	ORPHA:2088
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Splenomegaly, Lymphopenia	OMIM:605309
Coproporphyria, Hereditary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Increased circulating IgE level, Cutaneous abscess, Eosinophilia, Decreased circ...	OMIM:618282
Griscelli Syndrome	Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, ...	ORPHA:381
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:243150
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly	ORPHA:353298
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Absence of alpha granules, Thrombocytopenia, Macrothrombocytopenia, Increased RBC ...	OMIM:187900
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Aplastic anemia, Reduced bone mineral density, Neutropenia, A...	ORPHA:2909
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Iga Pemphigus	Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula...	ORPHA:555905
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Sparse or absent eyelashe...	ORPHA:221016
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath...	OMIM:212140
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Sweet Syndrome	Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha...	ORPHA:3243
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Bowing...	ORPHA:157215
Ebola Hemorrhagic Fever	Thrombocytopenia, Leukopenia, Increased circulating antibody level, Lymphopenia	ORPHA:319218
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Sparse or absent eyelashes, Short metacarpal, Sparse hair, Genu varum, Neutropen...	ORPHA:221008
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	ORPHA:905
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Peroxisomal Acyl-Coa Oxidase Deficiency	Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ...	OMIM:264470
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Bloom Syndrome	Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased circulating total IgM, Decrea...	OMIM:210900
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Hepatic steatosis, Elevated circulating hepatic transaminase concentration	OMIM:616829
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Lymphopenia	ORPHA:935
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:79084
Polycythemia Vera	Acute leukemia, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hypertension, Portal vein throm...	ORPHA:729
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating hepatic transaminase con...	ORPHA:264580
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L...	OMIM:242700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hirsutism, Ost...	OMIM:613327
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hypocellula...	ORPHA:505248
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Heterotaxy, Visceral, 4, Autosomal	Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Ectopia of the ...	OMIM:613751
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Pyoderma Gangrenosum	Increased circulating antibody level, Myeloid leukemia	ORPHA:48104
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level, Anemia, Thrombocytopenia	ORPHA:319251
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgG level, Increased circulating IgA level, Sp...	OMIM:617388
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Hepatomegaly, Osteoporosis	OMIM:560000
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Lipoatrophy, Hepatomegaly, Osteolytic defects of the phalanges of the ...	ORPHA:280365
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Tempi Syndrome	Increased circulating IgG level, Polycythemia, Increased hematocrit	ORPHA:284227
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Sparse bone trabeculae, Metaphyseal...	ORPHA:1652
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa...	OMIM:606003
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E...	OMIM:208540
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
19P13.12 Microdeletion Syndrome	Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Synophrys, Toe clinodactyly, Short...	ORPHA:254346
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:607143
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic...	OMIM:208900
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Generalized lipodystrophy, Hepatomegaly, Reduced subcutaneous adipose tissue, Generali...	ORPHA:363400
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hepatomegaly, Hepatic steatosis, Hepatic failure	OMIM:617872
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Netherton Syndrome	Hypereosinophilia, Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Decreased circulating antibody level, Hepatosplenomegaly, Microcytic anemia	OMIM:619750
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Lymphopenia	OMIM:617425
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level...	ORPHA:293978
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Occipital Horn Syndrome	Large iliac wing, Cholestasis, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobili...	ORPHA:198
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ...	OMIM:618213
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Neutropenia, Lymphopenia	OMIM:616395
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture	OMIM:179800
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level, Granuloma	ORPHA:562639
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Postaxial polydactyly, Mesoaxial hand polydactyly, Hepatic steatosis, Posta...	OMIM:615996
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cystic angiomat...	OMIM:608594
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Decreased specific pneumococcal antibody level, Decreased circulating IgG level, D...	ORPHA:183675
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Aromatase Deficiency	Osteopenia, Genu valgum, Delayed epiphyseal ossification, Osteoporosis, Generalized hirsutism, He...	ORPHA:91
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:619048
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Pneumocystosis	Abnormal neutrophil count, Increased circulating antibody level	ORPHA:723
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Increased circulating IgG level, Increased circulating IgA level, Leukopenia, Lymphopenia...	OMIM:615934
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Decreased circulating antibody level, Anemia	ORPHA:169105
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis	ORPHA:26792
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly	OMIM:253250
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Hepatic fai...	ORPHA:108
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular...	ORPHA:290
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Morbid Obesity And Spermatogenic Failure	Hepatic steatosis	OMIM:615703
Common Variable Immunodeficiency	Decreased circulating antibody level, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hem...	ORPHA:1572
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Hepatic steatosis, Lipodystrophy	OMIM:613877
Infantile Systemic Hyalinosis	Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Short palm, Brachydactyly, Os...	ORPHA:2176
Scrub Typhus	Myocarditis, Lymphadenopathy, Splenomegaly	ORPHA:83317
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613489
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Brucellosis	Lung abscess, Liver abscess, Anemia, Increased circulating IgG level, Leukocytosis, Granuloma, In...	ORPHA:1304
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Portal hypertension	ORPHA:79319
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphade...	OMIM:619644
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C...	OMIM:615895
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cystic angiomat...	OMIM:269700
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Obesity And Hypopigmentation	Hepatic steatosis, Red hair	OMIM:620195
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, ...	ORPHA:549
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Neutropenia	ORPHA:47
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Multiple lipomas, Hepatic steatosis, Foot polydactyly	ORPHA:210548
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Portal hypertension, Hepatocellu...	OMIM:251880
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Fibrous Dysplasia Of Bone	Rickets, Abnormal femur morphology, Abnormal tibia morphology, Pathologic fracture, Abnormal bone...	ORPHA:249
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemia, Eos...	ORPHA:2070
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepati...	ORPHA:247585
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyopathy, Abdom...	ORPHA:160
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta...	ORPHA:465508
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Acute pancreatitis...	OMIM:619487
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome...	OMIM:201475
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level, Anemia, Thrombocytosis, Iron deficiency anemia	OMIM:226300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentra...	OMIM:242150
Dpm1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sandal gap, Camptodactyly,...	ORPHA:79322
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Waldenström Macroglobulinemia	Normocytic anemia, Cryoglobulinemia, Splenomegaly, Monoclonal immunoglobulin M proteinemia, Abnor...	ORPHA:33226
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial effusion, Sp...	ORPHA:36412
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Increased circulating IgE level, Increased circulating IgA level, Le...	OMIM:620565
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Splenomegaly, Hepatic fibrosis, Ventricular septal defect, Hepatic fai...	OMIM:615630
Prolidase Deficiency	Thrombocytopenia, Splenomegaly, Anemia, Increased circulating antibody level	OMIM:170100
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis	OMIM:602579
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in li...	OMIM:604367
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Thymoma	Aplastic anemia, Decreased circulating antibody level, Abnormal lymphocyte physiology, Pure red c...	ORPHA:99867
Patent Ductus Venosus	Decreased liver function, Hepatic steatosis	OMIM:601466
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:781
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Anemia, Cholestasis, Thrombocytopenia, Hypoalbuminemia, Elevated circulating creati...	OMIM:608104
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:619386
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonic stenosis, Histiocytosis, Hepatospl...	OMIM:602782
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hammertoe, Spl...	OMIM:261515
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy	OMIM:614702
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:369840
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Hepatic steatosis, Hypopigmentation of hair	ORPHA:70472
Coccidioidomycosis	Increased circulating IgG level, Granuloma, Increased circulating IgM level, Abnormality of the s...	ORPHA:228123
Yellow Fever	Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,...	ORPHA:99829
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Decreased liver function, Reduced bone mineral density, Elevated circulating...	OMIM:613658
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Hepatomegaly, Splenomegaly	OMIM:608776
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Hirsutism, Osteoporosis, Dorsocervical fat pad, Hepatic steatosis, Increased susceptibi...	ORPHA:189427
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Osteopenia, Hepatomegaly, Elevated circulating hep...	OMIM:212065
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissue in limbs, Generalize...	ORPHA:2348
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni...	OMIM:617021
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis	ORPHA:436182
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:255120
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:616026
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate...	ORPHA:231222
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Idiopathic Hypereosinophilic Syndrome	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangitis, Pancreatit...	ORPHA:3260
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Long-Olsen-Distelmaier Syndrome	Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva...	OMIM:620609
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ...	ORPHA:101330
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I...	ORPHA:70578
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Hyper...	OMIM:613070
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp...	ORPHA:567548
Wolcott-Rallison Syndrome	Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia...	ORPHA:1667
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H...	ORPHA:88618
Acute Lung Injury	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A...	ORPHA:178320
Mccune-Albright Syndrome	Hepatocellular adenoma, Abnormal femur morphology, Pancreatitis, Aneurysmal bone cyst, Pancytopen...	ORPHA:562
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 leve...	ORPHA:79078
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Cirrhosis, Hepatic steatosis	ORPHA:209919
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le...	ORPHA:57777
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Pparg-Related Familial Partial Lipodystrophy	Lipoatrophy, Cirrhosis, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissue in limbs,...	ORPHA:79083
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Hepatocellular carcinoma, Osteoporosi...	OMIM:277900
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hyperammonemia, Leukopenia, Th...	ORPHA:292
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Mcleod Syndrome	Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno...	OMIM:300842
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Primary Biliary Cholangitis	Increased circulating IgA level, Increased circulating IgM level, Splenomegaly	ORPHA:186
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Cirrhosis, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia	ORPHA:367
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne...	ORPHA:435660
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Hyper-Igd Syndrome	Increased circulating IgA level, Leukocytosis, Increased circulating IgD level, Neutrophilia, Hep...	OMIM:260920
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Hypoplastic anterior commissure,...	OMIM:616975
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr...	OMIM:603471
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver	ORPHA:91138
Cystinosis	Rickets, Portal hypertension	ORPHA:213
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis, Lipodystrophy	OMIM:615980
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Cholestasis, Drumstick terminal phalange...	ORPHA:541423
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets	OMIM:612089
Tangier Disease	Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adi...	ORPHA:435651
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Tarsal sclerosis, Sclerosis of finger phalanx, Elevated circulating...	ORPHA:404454
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Peritonitis	ORPHA:656
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Aspergillosis	Eosinophilia, Increased circulating IgE level, Neutropenia	ORPHA:1163
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com...	ORPHA:79324
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Nail dystrophy, Generalized lipodystrophy, Osteolytic defects of the phalanges of the...	OMIM:619127
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Multiple lipomas, Pancreatitis, Chondrocalcinosis	OMIM:600740
Fanconi-Bickel Syndrome	Rickets, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alanine aminotransferase co...	OMIM:227810
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Left ventr...	OMIM:617713
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Acute Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Neu...	ORPHA:99827
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Cystic Echinococcosis	Increased circulating antibody level, Splenic cyst, Peritoneal abscess, Eosinophilia, Abscess	ORPHA:400
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ...	ORPHA:449432
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Increased hepatic glycoge...	ORPHA:79259
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	ORPHA:420741
Cowden Syndrome 1	Decreased circulating antibody level, Lymphopenia	OMIM:158350
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Celiac Disease, Susceptibility To, 1	Rickets, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Macrocy...	OMIM:212750
Whim Syndrome	Decreased circulating antibody level, Neutropenia, Abnormal neutrophil morphology, Lymphopenia	ORPHA:51636
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Gaucher Disease	Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Splenic rupture, ...	ORPHA:355
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Jaundice, Intrahepatic cholestasis, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased seru...	OMIM:617093
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
C3 Glomerulopathy	Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat...	ORPHA:329918
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Leukocytosis, Increased circulating IgD level, Normocytic hypop...	OMIM:610377
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:608013
Akt2-Related Familial Partial Lipodystrophy	Increased intraabdominal fat, Hepatomegaly, Hepatic steatosis, Lipodystrophy	ORPHA:79085
Gaucher Disease Type 1	Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Splenic rupture, ...	ORPHA:77259
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia, Increased circulating IgE level	ORPHA:2314
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc...	OMIM:251260
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea...	ORPHA:79329
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Atypical Werner Syndrome	Premature graying of hair, Lipoatrophy, Rocker bottom foot, Reduced bone mineral density, White f...	ORPHA:79474
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Inguinal hernia, Myelofibrosis, Sparse scalp hair, Curly hair, Long eyelashes,...	OMIM:607721
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ...	ORPHA:247353
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Mannosidosis, Alpha B, Lysosomal	Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly	OMIM:248500
Lipodystrophy, Familial Partial, Type 2	Increased intramuscular fat, Hepatomegaly, Loss of truncal subcutaneous adipose tissue, Loss of s...	OMIM:151660
Multiple Myeloma	Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a...	ORPHA:29073
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Clubbing, Cholestasis, Elevated circulating alanine aminotransfe...	OMIM:615486
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia	OMIM:617575
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Anemia, Pancytopenia, Decreased circulating antibody level, Leukocytosis, Bone marrow hypocellula...	OMIM:615688
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Abetalipoproteinemia	Osteopenia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ane...	ORPHA:14
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Iron deficiency anemia, Osteoporosis, Exocrine pancreatic insufficiency, Osteomalacia	ORPHA:309031
Gracile Syndrome	Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis	ORPHA:53693
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Tapered toe, Elevated circulating hepatic transaminase concentration, Macrovesicula...	OMIM:608836
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis, Lipodystrophy	OMIM:615238
Gracile Bone Dysplasia	Hypocalcemia, Hypoplastic spleen, Asplenia	OMIM:602361
Lead Poisoning	Abnormal T cell morphology, Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthe...	ORPHA:330015
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil...	ORPHA:31150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th...	OMIM:614576
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Vacuolated lymphocytes, Hypertrophic cardiomyopath...	OMIM:230500
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Normochromic microcytic anemia, Elevated circulating alanine am...	OMIM:610198
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:614582
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Hypertyrosinemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Chol...	OMIM:617156
3-Methylglutaconic Aciduria, Type Viib	Thrombocytopenia, Leukopenia, Flexion contracture, Hepatic steatosis, Neutropenia	OMIM:616271
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis	ORPHA:99812
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, ...	ORPHA:85450
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Alopecia	OMIM:275630
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Tracheomalacia, ...	OMIM:203700
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Inguinal hernia, O...	OMIM:619525
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Vici Syndrome	Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4...	OMIM:242840
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Alstrom Syndrome	Polydactyly, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic activ...	OMIM:203800
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno...	ORPHA:2905
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:97287
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Garg-Mishra Progeroid Syndrome	Slender long bone, Microvesicular hepatic steatosis, Slender metacarpals, Sparse hair, Coxa valga	OMIM:620601
Trichohepatoenteric Syndrome 1	Cirrhosis, Abnormality of iron homeostasis, Jaundice, Abnormality of the pancreas, Hepatomegaly, ...	OMIM:222470
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia...	ORPHA:3132
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Macrovesicular hepati...	ORPHA:298
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, Abnormal finger morphology, Larg...	ORPHA:2636
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal granulocyte morph...	ORPHA:98907
Immunodeficiency 58	Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr...	OMIM:618131
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Proximal placement of thumb, Ulnar deviation of the 2nd finger, Long fingers, Achil...	OMIM:616263
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Inc...	OMIM:261680
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypersplenism, Decreased circulating IgA level, Splenomegaly, Pancytopenia	OMIM:613385
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Neu-Laxova Syndrome	Rickets, Osteopenia, Abnormal hair morphology, Abnormal eyelash morphology, Osteoporosis, Flexion...	ORPHA:2671
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM, Hepatosplenomegaly, Splenomegaly	ORPHA:171
Seckel Syndrome 10	Slender long bone, Acute pancreatitis, Elevated circulating alanine aminotransferase concentratio...	OMIM:617253
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Ascites, Hypertrophic cardiomyopathy	OMIM:616897
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Hypophosphatemic rickets, Elevated circulating hepatic transaminase concentration, ...	ORPHA:263455
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ...	ORPHA:100093
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Alveolar Echinococcosis	Liver abscess, Anemia, Increased circulating antibody level, Abnormal spleen morphology, Eosinoph...	ORPHA:284
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Chylomicron Retention Disease	Hepatic steatosis, Acanthocytosis, Elevated circulating hepatic transaminase concentration, Incre...	ORPHA:71
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormal circulating interferon-gamma concentration, Autoimmune hemolytic anemia, B lymphocytopen...	ORPHA:391487
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Hypocalcemia, Increased circulating myelocyte count, E...	ORPHA:36234
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Infection associated neutropenia, Elevated circulating hepatic transaminase co...	ORPHA:445038
Hypermethioninemia Due To Adenosine Kinase Deficiency	Cholestasis, Hepatic steatosis, Portal fibrosis, Elevated circulating alanine aminotransferase co...	OMIM:614300
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Ventricular septal defect, ...	ORPHA:84064
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Liver abscess, Anemia, Leukocytosis	ORPHA:67
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Reduced bone mineral density, Elevated circulating hepatic transaminas...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Reduced bone mineral density, Elevated circulating hepatic transaminas...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Reduced bone mineral density, Elevated circulating hepatic transaminas...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Reduced bone mineral density, Elevated circulating hepatic transaminas...	ORPHA:881
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Primary Sjögren Syndrome	Decreased circulating complement C3 concentration, Normocytic anemia, Increased circulating antib...	ORPHA:289390
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Card...	OMIM:610717
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pulmonary ly...	OMIM:235510
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Ascites, Pericardial effusion, Thrombocytopenia, Leukopenia, Microa...	ORPHA:93552
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Wide anterior fontanel, Hepatic periportal necrosis, Hepatic steatosis	OMIM:231680
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:605911
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Mirage Syndrome	Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia	OMIM:617053
Familial Hypocalciuric Hypercalcemia	Osteomalacia, Pancreatitis, Chondrocalcinosis, Lipoma	ORPHA:405
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:308552
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy, Chronic nonin...	ORPHA:97289
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:201450
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic steatosis	OMIM:618329
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valve calcification, ...	ORPHA:77261
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification...	ORPHA:228308
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Al Amyloidosis	Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnorma...	ORPHA:85443
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:606056
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hypoplasia of the corpus callosum, Secondary microcephaly, Enlarged cerebellum, Chiari type I mal...	ORPHA:261552
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Thrombocytopenia, Elevated circulating hepatic transaminase con...	OMIM:611126
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myocardium morph...	ORPHA:32960
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic...	ORPHA:228305
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia, Acute hepatic failure, Hepatic steatosis, Elevated circulating hepatic transami...	ORPHA:99901
Fucosidosis	Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly	OMIM:230000
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomega...	ORPHA:499009
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ...	ORPHA:89842
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Hepatic steatosis	OMIM:614922
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl...	ORPHA:565612
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, 2-3 toe cutaneous syndactyly, Hip subluxation, Cirrhosis, Proximal pla...	OMIM:270400
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic stenosis, Secundum...	OMIM:612541
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Enlarge...	OMIM:276700
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Hennekam Syndrome	Decreased circulating antibody level, Splenomegaly, Lymphopenia	ORPHA:2136
Distal Renal Tubular Acidosis	Rickets, Reduced bone mineral density, Osteomalacia, Hemolytic anemia, Increased susceptibility t...	ORPHA:18
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short humerus...	ORPHA:17
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Reduced circulating complement concentration	ORPHA:449427
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:212138
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Monosomy 13Q34	Horizontal eyebrow, Hepatic steatosis, Postaxial hand polydactyly, Postaxial foot polydactyly	ORPHA:96168
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Acute pa...	ORPHA:20
Dysbetalipoproteinemia	Acute pancreatitis, Hepatomegaly, Hepatic steatosis, Gout	ORPHA:412
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating complemen...	ORPHA:2298
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis	OMIM:619273
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Abnormal mitral valve morp...	ORPHA:581
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Pericarditis, Acute hepatic failure, Spleno...	ORPHA:342
Leukocyte Adhesion Deficiency Type Ii	Anemia, Leukocytosis, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia	ORPHA:99843
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Short humerus, Sparse hair, Joint hypermobility, Long toe, Hepatic steatosis, Congen...	ORPHA:3455
Pearson Syndrome	Hepatomegaly, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, ...	ORPHA:699
Lowe Oculocerebrorenal Syndrome	Rickets, Genu valgum, Pathologic fracture, Finger swelling, Corneal scarring, Camptodactyly of fi...	OMIM:309000
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte...	ORPHA:731
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card...	OMIM:261740
Lysinuric Protein Intolerance	Anemia, Increased circulating antibody level, Hemophagocytosis, Decreased circulating antibody le...	ORPHA:470
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Decreased circulating antibody level, Anemia	ORPHA:79396
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr...	ORPHA:93111
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated circulating hepatic transami...	ORPHA:71212
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Fructose-1,6-Bisphosphatase Deficiency	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:348
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Anemia, Diffuse hepatic steatosis	ORPHA:436271
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Hype...	ORPHA:99826
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Arthritis, Hepatitis, Thrombocytopenia, Splenomegaly, Hepatic...	OMIM:615846
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Anemia, Neutropenia	ORPHA:175
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
H Syndrome	Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis, Microcytic anemia	ORPHA:168569
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Intellectual Developmental Disorder, Autosomal Dominant 68	Joint contracture of the 5th finger, 2-3 toe syndactyly, Broad hallux, Sparse hair, Hepatic steat...	OMIM:619934
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Dilated Cardiomyopathy With Ataxia	Hypochromic microcytic anemia, Microvesicular hepatic steatosis, Normochromic microcytic anemia, ...	ORPHA:66634
Citrullinemia, Type Ii, Neonatal-Onset	Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Portal fibrosis, Microvesi...	OMIM:605814
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal pulmonary valve morphology	ORPHA:667
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Internally rotated shoulders, Joint hypermobility, Hepatic steatosis, Medial flaring...	OMIM:619503
Lysosomal Acid Lipase Deficiency	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Anem...	ORPHA:275761
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Carney Triad	Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Leukocytosis, Flexion contracture, Hepatic steatosis, Alopecia	OMIM:619321
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis	OMIM:249100
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:252500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Interstitial Cystitis	Abnormality of tumor necrosis factor secretion	ORPHA:37202
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Panhypogammaglobulinemia, Neutropenia	ORPHA:33364
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hip dys...	OMIM:615356
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly	OMIM:620371
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Mitochondrial Trifunctional Protein Deficiency	Equinus calcaneus, Chronic hepatic failure, Cholestasis, Diffuse hepatic steatosis	ORPHA:746
Dubowitz Syndrome	Aplastic anemia, Decreased circulating IgG level, Acute lymphoblastic leukemia, Decreased circula...	OMIM:223370
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
Thrombocytopenia-Absent Radius Syndrome	Anemia, Decreased circulating antibody level, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia,...	OMIM:274000
Igg4-Related Kidney Disease	Decreased circulating complement C3 concentration, Increased circulating IgG1 level, Increased ci...	ORPHA:449395
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr...	OMIM:614924
Cystinosis, Nephropathic	Rickets, Hypophosphatemic rickets, Genu valgum, Hepatomegaly, Hypopigmentation of hair, Metaphyse...	OMIM:219800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Arima Syndrome	Cirrhosis, Hepatomegaly, Anemia, Postaxial hand polydactyly, Hepatic fibrosis, Hepatic steatosis,...	OMIM:243910
Lymphangioleiomyomatosis	Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Ascites, Pulmonary lympha...	ORPHA:538
Oculocerebrorenal Syndrome Of Lowe	Abnormal metaphysis morphology, Genu valgum, Anemia, Inguinal hernia, Joint hypermobility, Abnorm...	ORPHA:534
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase...	OMIM:256040
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentration, Leukoc...	ORPHA:2331
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Anemia, Increased intramyocellular lipid droplets, Increa...	OMIM:220110
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy, Abdominal mass	ORPHA:635
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
1P36 Deletion Syndrome	Annular pancreas, Clinodactyly of the 5th finger, Horizontal eyebrow, Camptodactyly of finger, Ab...	ORPHA:1606
Ogden Syndrome	Jaundice, Clinodactyly of the 5th finger, Macrovesicular hepatic steatosis, Inguinal hernia, Sand...	OMIM:300855
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia	OMIM:618223
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexion contracture, Elevated he...	OMIM:300868
Scleromyxedema	Paraproteinemia	ORPHA:167635
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis	OMIM:210200
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chroni...	ORPHA:100079
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Neutral Lipid Storage Myopathy	Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Incr...	ORPHA:98908
Familial Chylomicronemia Syndrome	Perianal abscess, Jaundice, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Hepat...	ORPHA:444490
Behçet Disease	Pancreatitis, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormal myocardium morphology, Endoca...	ORPHA:117
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Pericardial effusion, Splenomegaly, Gene...	OMIM:181000
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Hepatoblastoma	OMIM:130650
Primary Fanconi Renotubular Syndrome	Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures	ORPHA:3337
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:96191
Igg4-Related Ophthalmic Disease	Eosinophilia, Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, B...	OMIM:124000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Genu valgum, Jaundice, Broad eyebrow, Elevated circulating hepatic transaminase concentration, Ta...	OMIM:619475
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Refractory anemia, Anemia	ORPHA:79076
Bohring-Opitz Syndrome	Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology	ORPHA:97297
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Pericarditis, Thrombocytopenia, Elevated serum transamin...	ORPHA:509
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr...	ORPHA:116
Blau Syndrome	Anemia, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormality of the liver	ORPHA:90340
Histiocytoid Cardiomyopathy	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:137675
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:365
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Elevated circulating hepatic transaminase concentration, Finger sy...	ORPHA:110
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Rickets, Genu valgum, Short metacarpal, Enamel hypoplasia, Bowing of the...	OMIM:248250
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Intrahepatic bile duct dilatation, Cholest...	OMIM:619534
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, C...	ORPHA:51608
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent cutaneous abscess formation, Eosinophilia, Increased circulating IgE level, Cutaneous a...	OMIM:147060
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Digeorge Syndrome	Anemia, Intervertebral disk degeneration, Inguinal hernia, Cholelithiasis, Hypoplasia of the thym...	OMIM:188400
Fructose Intolerance, Hereditary	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hepat...	OMIM:229600
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,...	ORPHA:91500
Postinfectious Vasculitis	Cryoglobulinemia, Increased circulating IgA level, Increased circulating antibody level, Abnormal...	ORPHA:48435
Trichinellosis	Increased circulating IgE level	ORPHA:863
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Plague	Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis	ORPHA:707
African Trypanosomiasis	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Pericarditis, Hepatosplenomegaly, Splenomegaly	ORPHA:3385
Alström Syndrome	Short finger, Cirrhosis, Hepatomegaly, Frontal balding, Abnormal liver physiology, Elevated circu...	ORPHA:64
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Splenomegaly, Polysplenia	ORPHA:373
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Williams Syndrome	Abnormal endocardium morphology, Cardiomegaly, Cholelithiasis, Hypertrophic cardiomyopathy, Pulmo...	ORPHA:904
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect	ORPHA:3472
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Highly arched eyebrow, Microvesicular hepatic steatosis, Hirsutism, Low anterior...	OMIM:220111
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos...	ORPHA:99889
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Viss Syndrome	Increased circulating IgG level, Hypereosinophilia, Increased circulating IgE level, Decreased ci...	OMIM:619472
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Decreased circulating antibody level, Asplenia	ORPHA:261537
Mowat-Wilson Syndrome	Decreased circulating antibody level, Asplenia	ORPHA:2152
Pmm2-Cdg	Abnormal liver parenchyma morphology, Reduced thyroxin-binding globulin, Impaired neutrophil chem...	ORPHA:79318
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665

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 Ebf1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Ebf1.

No publications found that use IMPC mice or data for Ebf1.

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MGI Allele	Allele Type	Produced
Ebf1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Ebf1^{tm254(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ebf1 MGI:95275

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Gross Morphology Embryo E18.5

Histopathology

MicroCT E18.5

Human diseases caused by Ebf1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data