banner
Genes Phenotypes Help, News, Blog

Gene: Lat MGI:1342293

Log in to follow

Gene Summary

Name:
linker for activation of T cells
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Latem1(IMPC)Ics HOM Early adult 8.92×10-07
abnormal startle reflex Latem1(IMPC)Ics HOM Early adult 1.24×10-15
abnormal vitreous body morphology Latem1(IMPC)Ics HOM Early adult 7.60×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Lat mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Auto... ORPHA:277
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre... ORPHA:397596
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... OMIM:209950
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Conical tooth, Increased T cell count, Increased circulating IgG level, Inflammation of the large... ORPHA:98813
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... OMIM:619802
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... OMIM:618495
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... ORPHA:444463
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Oral ulcer, Increased circulating IgG level, T lymphocytopenia, Lymphocytosis, Neutropenia, Decre... ORPHA:169154
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:331206
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Diarrhea, Recurrent pneumonia, He... ORPHA:169160
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... ORPHA:3261
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E... OMIM:602450
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased ... OMIM:616005
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu... ORPHA:37748
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, ... ORPHA:37042
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, ... OMIM:613496
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb... OMIM:102700
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, De... OMIM:606367
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Thoracic aortic aneurysm, Autoimmunity, ... ORPHA:449400
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... OMIM:614470
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Elevated circulati... OMIM:619632
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi... OMIM:300635
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 1
Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ... OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... OMIM:618048
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... ORPHA:2137
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Oral ulcer, Chronic mucocutaneous candid... OMIM:608971
Roifman Syndrome
Noncompaction cardiomyopathy, Thin upper lip vermilion, Hypogonadotropic hypogonadism, Eczema, Eo... ORPHA:353298
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Cystic Echinococcosis
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Elevated gamma-glutam... ORPHA:400
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Cervical ... ORPHA:83313
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Rheumatoid factor positive, Lymphadenitis, Oral ulcer, Hemolytic anemia, Abscess, Perianal absces... OMIM:618935
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Omenn Syndrome
Hepatomegaly, Failure to thrive, Pneumonia, Autoimmunity, Eosinophilia, Splenomegaly, Leukocytosi... ORPHA:39041
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:273800
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Impaired T cell function, Pure red cell aplasia, Otitis media, Hypouricemia, Autoimmun... OMIM:613179
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Elevated circulating C-reactive protein concentration, Hepatomegaly, Membr... OMIM:619644
Igg4-Related Submandibular Gland Disease
Cholangitis, Xerostomia, Increased circulating IgG level, Abnormal salivary gland morphology, Sia... ORPHA:449432
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Elevated circulating C-reactive protein concentration, Crackles, Nonproductive coug... ORPHA:2902
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Min... ORPHA:1830
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 23
Rheumatoid factor positive, Increased circulating IgG level, High palate, Neutropenia, Hemolytic ... OMIM:615816
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... OMIM:617638
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Spleno... OMIM:615387
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, ... OMIM:618394
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Dental crowding, Eczema, Eosinophilia, Keratitis, Increased cir... OMIM:618523
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, He... OMIM:616100
X-Linked Agammaglobulinemia
Sinusitis, Abnormal lung morphology, Glossoptosis, Conjunctivitis, Hypocalcemia, Neutropenia, Chr... ORPHA:47
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... OMIM:243700
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Elevated circulating C-rea... OMIM:613011
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia, Neut... OMIM:155100
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Increa... OMIM:619752
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Legionnaires Disease
Abnormal lung morphology, Cough, Infectious encephalitis, Hyponatremia, Recurrent pharyngitis, He... ORPHA:549
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... OMIM:619858
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Q Fever
Respiratory distress, Rheumatoid factor positive, Abnormal left ventricular function, Abnormality... ORPHA:781
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... OMIM:613779
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Persistence of primary teeth, Increa... OMIM:147060
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... OMIM:614201
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom... ORPHA:85443
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Tubulointerstitial nephritis, Lymphocytosis, Cough, Infectious encephaliti... ORPHA:139402
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperamm... ORPHA:79312
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... ORPHA:91139
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperiton... ORPHA:64744
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Celiac disease, A... OMIM:615952
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Tach... OMIM:615934
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia,... OMIM:617303
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke... ORPHA:157991
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Abnormality of t... ORPHA:1163
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... ORPHA:2298
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:617099
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, E... OMIM:614034
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, T lymphocytopenia, Hypocalcemic tetany, Chronic... ORPHA:83471
Pediatric Systemic Lupus Erythematosus
Myositis, Oral ulcer, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Lu... ORPHA:93552
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy... OMIM:301078
Thymoma
Myositis, Aplastic anemia, Abnormal lymphocyte proliferation, Pure red cell aplasia, Anti-acetylc... ORPHA:99867
Idiopathic Pulmonary Hemosiderosis
Rheumatoid factor positive, Nodular pattern on pulmonary HRCT, Cardiomegaly, Crackles, Iron defic... ORPHA:99931
Pauci-Immune Glomerulonephritis
Renal interstitial immunoglobulin deposits, Oral ulcer, Tubulointerstitial nephritis, Granulomato... ORPHA:93126
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymph... OMIM:240500
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon... OMIM:557000
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep... OMIM:618999
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Thin upper lip vermilion, Eosinophilia, Eczema, Splen... OMIM:616651
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Recurre... OMIM:620210
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Galactosemia I
Hemolytic anemia, Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate am... OMIM:230400
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Alveolar Echinococcosis
Liver abscess, Cholangitis, Renal cyst, Vomiting, Cough, Portal hypertension, Abnormal mesentery ... ORPHA:284
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy OMIM:607685
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Tularemia
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Conjunctivitis, Oti... ORPHA:3392
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449427
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, De... ORPHA:381
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... OMIM:301000
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectas... OMIM:242860
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Drug-Induced Lupus Erythematosus
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... ORPHA:231111
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi... ORPHA:171
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... ORPHA:829
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... ORPHA:507
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... ORPHA:1572
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology ORPHA:2582
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... OMIM:613101
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, Functional abnormality of the bladder, T... ORPHA:391487
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Lead Poisoning
Decreased HDL cholesterol concentration, Abnormal T cell morphology, Tubulointerstitial nephritis... ORPHA:330015
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... OMIM:139090
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr... OMIM:601399
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis OMIM:216950
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Abnormal lung morp... ORPHA:449563
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... OMIM:601457
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Autoim... ORPHA:229717
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... ORPHA:849
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Autoi... OMIM:613385
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Netherton Syndrome
Recurrent respiratory infections, Failure to thrive, Villous atrophy, Recurrent skin infections, ... OMIM:256500
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... OMIM:181000
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... OMIM:618986
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Peeling Skin Syndrome 1
Increased circulating IgE level, Palmoplantar hyperhidrosis, Eosinophilia OMIM:270300
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Immunodeficiency 22
Pericarditis, Failure to thrive, Autoimmunity, Abscess, Thrombocytopenia, Diarrhea, Recurrent upp... OMIM:615758
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Systemic Lupus Erythematosus
Lupus nephritis, Oral ulcer, Leukopenia, Decreased circulating complement C4 concentration, Seros... ORPHA:536
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal ... ORPHA:289916
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Peri... ORPHA:2686
Postinfectious Vasculitis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin... ORPHA:48435
Chilblain Lupus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... ORPHA:90280
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Cerebellar hemorrhage, Stage 5 chroni... OMIM:251000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Thrombocyto... ORPHA:517
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Hypoplasia of the thymus, Decreased ci... OMIM:208900
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Apnea, Thrombocyto... OMIM:606054
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Respirato... ORPHA:27
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Thin upper lip vermilion, Eosinophilia, Ast... OMIM:618092
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadeno... ORPHA:98849
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym... ORPHA:79087
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Hepatomegaly, Proteinuria, Glo... ORPHA:91138
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... OMIM:209920
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eo... ORPHA:2314
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Leukopenia, Hypoalbuminemia, Conjunctivitis, Decreased circulating IgG leve... ORPHA:505248
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatom... OMIM:612541
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia, Secretory diarrhea, Coarctation of... OMIM:616069
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Eosinophilic Gastroenteritis
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Malabsorp... ORPHA:2070
Immunodeficiency 31C
Villous atrophy, Protein-losing enteropathy, Cough, Recurrent vulvovaginal candidiasis, Hypothyro... OMIM:614162
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali... ORPHA:2552
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... ORPHA:99827
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... OMIM:608709
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Anti-thyroid peroxidase antibody positivity, Hypothyroidism, ... ORPHA:228426
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan... OMIM:208500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody... OMIM:614069
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe... ORPHA:319218
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... OMIM:619386
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypothyroidism, Hepatic steatos... OMIM:615846
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Proteinuria, Autoimmunity, Small for ge... ORPHA:275555
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic anemi... OMIM:619487
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Glomerulopathy, Diabetes mellitus, Splenom... ORPHA:2348
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Syndromic Diarrhea
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He... ORPHA:84064
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... OMIM:618805
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... ORPHA:293173
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... ORPHA:340
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Pulmonary edema, Rhinorrhea, Myocarditis, Leukocytosis, Diarrh... ORPHA:188
Hypocomplementemic Urticarial Vasculitis
Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Lymphadenopathy, Restric... ORPHA:36412
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, A... ORPHA:900
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... OMIM:615122
Bernard-Soulier Syndrome
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired risto... OMIM:231200
Melioidosis
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tra... ORPHA:31202
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis, Reduced hemolytic complement activity, Systemic lupus erythematos... OMIM:614380
Graft Versus Host Disease
Fasciitis, Myositis, Oral ulcer, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea... ORPHA:39812
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Lymphatic Filariasis
Circulating immune complexes, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Cough... ORPHA:2035
Eosinophilopenia
Allergic rhinitis, Autoimmunity, Decreased eosinophil count OMIM:131430
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Bloody diarrhea... ORPHA:99826
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... ORPHA:3162
Diffuse Alveolar Hemorrhage
Rheumatoid factor positive, Cough, Decreased circulating complement C4 concentration, Irregular s... ORPHA:90060
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... ORPHA:33355
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,... ORPHA:90291
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hepatic failure, Elevated circulating... OMIM:617872
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Skin rash, Villous atrophy, Elevated circulating C-reactive prot... OMIM:616050
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Erythroderma, Anal atresia, Lymphopenia, Hepa... OMIM:617425
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... OMIM:613845
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... OMIM:616414
Sarcoidosis
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ... ORPHA:797
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Cachexia, C... ORPHA:77297
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Lysinuric Protein Intolerance
Leukopenia, Aminoaciduria, Vomiting, Nausea, Hepatomegaly, Respiratory insufficiency, Anemia, Sta... OMIM:222700
Cach Syndrome
Nonketotic hyperglycinemia, Renal hypoplasia, Hepatosplenomegaly, Optic neuritis, Vomiting, Dysph... ORPHA:135
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash... OMIM:617591
Zika Virus Disease
Maculopapular exanthema, Skin rash, Thrombocytopenia, Increased circulating IgM level, Arthritis,... ORPHA:448237
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Renal insufficiency, Hepatomegaly, Epistaxis, Abn... ORPHA:33226
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Oral ulcer, L... ORPHA:50918
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ... ORPHA:589
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenom... ORPHA:77259
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp... ORPHA:199299
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Bleeding Disorder, Platelet-Type, 17
Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph... OMIM:187900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar... ORPHA:544482
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Yellow Fever
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... ORPHA:99829
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... OMIM:241600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Anti-dsDNA antibody positivity, Hypothyroi... ORPHA:1855
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Nephropathy, Panc... ORPHA:342
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Sple... ORPHA:79083
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Decreased CD4:CD8 ratio, R... OMIM:608233
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym... ORPHA:158057
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,... OMIM:617237
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Atypical Hemolytic Uremic Syndrome
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... ORPHA:2134
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thro... OMIM:603552
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H... OMIM:105200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... OMIM:618213
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic ... ORPHA:275
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... ORPHA:85450
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Mastocytosis ORPHA:66661
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Oral ulcer, Leukopenia, Lupus anticoagulan... OMIM:615688
Autosomal Dominant Polycystic Kidney Disease
Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Elevated... ORPHA:730
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st... OMIM:307200
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi... ORPHA:564
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Abnor... OMIM:619573
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Persistence of primary teeth, Vas... ORPHA:375
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Hemoglob... ORPHA:90038
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hyp... ORPHA:79259
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Foam cells with lame... OMIM:607616
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Eleva... OMIM:610377
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Lymphadenopathy, Arthritis... ORPHA:69126
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab... ORPHA:90340
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ... ORPHA:565612
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... OMIM:620321
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Malabsorption, Asthma, Incre... ORPHA:634
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Myositis, Elevated circulating creatine kinase concentration OMIM:253600
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Neutropenia, Cough, Nephriti... ORPHA:73263
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Abnormal intrahepatic bile duct mor... ORPHA:186
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Eczema, Celiac disease, Increased circulating IgE l... OMIM:618985
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uve... ORPHA:319251
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental... ORPHA:251004
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst, Ab... ORPHA:79303
Mccune-Albright Syndrome
Gastroesophageal reflux, Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting,... ORPHA:562
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia ORPHA:3327
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Vomiting, Hypergalactosemia, D... OMIM:230350
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Increased circulating thyroglobulin le... OMIM:610199
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Vomiting, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, H... OMIM:619525
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Abnorma... ORPHA:70578
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Pseudo-Torch Syndrome 3
Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentrati... OMIM:618886
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Pleural effusion, Chronic diarrhea, Decreased circulating antib... ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Elevated circulating creatine kinase concentration, Inflammation of the... OMIM:614576
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Decreased circulating antibody level, Polycystic ovaries, Type II... ORPHA:100
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Autoimmunity, Splenomegaly, Con... ORPHA:90033
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Renal insufficiency, Sinusitis, Pericarditis, Auto... ORPHA:727
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp... OMIM:614868
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Variant Abeta2M Amyloidosis
Abnormal vascular morphology, Intestinal perforation, Chronic kidney disease, Abnormality of the ... ORPHA:314652
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia OMIM:189800
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Nephr... OMIM:215250
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Babesiosis
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Myocardial infarction, Splenomegaly, Congest... ORPHA:108
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Hypouricemia, Autoimm... ORPHA:760
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Oral ulcer, Infectious encephalitis, Glomeru... ORPHA:117
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Meckel diverticulum, Renal malrotation, Eosinophilia, Seborrheic dermatitis... OMIM:274000
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration ORPHA:3363
Angiostrongyliasis
Projectile vomiting, Increased circulating IgA level, Hypereosinophilia, Increased circulating sp... ORPHA:74
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... OMIM:614074
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leuk... ORPHA:292
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly... OMIM:269920
Macrocephaly/Autism Syndrome
Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Large for gestational age, Sple... OMIM:605309
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hyperte... ORPHA:79084
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Supernumerary nipple, El... OMIM:614376
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarct... OMIM:274150
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma... OMIM:242900
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Immunodeficiency 9
Respiratory insufficiency due to muscle weakness, Chronic diarrhea, Hypoplasia of the thymus, Rec... OMIM:612782
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria... ORPHA:182050
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Acute Lung Injury
Shock, Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatiti... ORPHA:178320
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Diarrhea, Increased urinary porphobilinogen, H... OMIM:121300
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption o... ORPHA:90321
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Dyspnea, Diarrhea, Abno... ORPHA:54057
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Cough, Splenomegaly, Dyspnea, Chronic pulmonar... OMIM:613490
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... OMIM:609981
22Q11.2 Deletion Syndrome
Impaired T cell function, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ... ORPHA:567
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... ORPHA:90037
Classic Mycosis Fungoides
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Anal stenosis, Dysgammaglobu... OMIM:251260
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Congestive heart failure, Cherry re... ORPHA:796
Bloom Syndrome
Bronchitis, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulating... ORPHA:125
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Tachypnea, Leukopenia, 3-Methylglutaric aciduria, Hepatomegaly, Ketonuria, Leukocytosis, D... ORPHA:20
Kawasaki Disease
Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyngitis, Leukocytosis, Vasculitis, H... ORPHA:2331
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the philtrum, Cryptorchidism, Increased circulating IgE level... ORPHA:3409
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi... ORPHA:2968
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Microcytic anemia, Deep philtrum, Recurren... OMIM:619750
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Stevens-Johnson Syndrome
Acute hepatic failure, Abnormality of neutrophils, Myocardial infarction, Abnormality of the uret... ORPHA:36426
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:613913
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Cleft palate, Ami... OMIM:214110
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... OMIM:612840
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Tick-Borne Encephalitis
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Thrombocyto... ORPHA:297
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level ORPHA:90159
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Hypospadias, Adrena... OMIM:214100
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... OMIM:615947
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Decreased circulating complement factor B concentration, Hemolytic-uremi... OMIM:235400
Tempi Syndrome
Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Diabetes mellitus... OMIM:616263
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopath... ORPHA:169090
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Median cleft lip, Hamartoma of tongue, Intestinal m... OMIM:263520
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating IgG4 level, Malabsorption, Obesity, Agamm... OMIM:300310
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Abnormal palate morphol... ORPHA:575
Neonatal Alloimmune Neutropenia
Pneumonia, Maternal diabetes, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Ant... ORPHA:464370
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Hyperlipidemi... ORPHA:567546
Gaucher Disease
Elevated circulating C-reactive protein concentration, Osteoarthritis, Cherry red spot of the mac... ORPHA:355
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinucle... OMIM:607944
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Pfapa Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy, A... ORPHA:42642
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia,... OMIM:158310
Toxic Epidermal Necrolysis
Respiratory distress, Acute hepatic failure, Abnormality of the urethra, Intestinal perforation, ... ORPHA:537
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Cleft lip, Dilated c... OMIM:616730
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Hyperhidrosis, Weight loss, Lym... ORPHA:391
Lassa Fever
Shock, Cough, Dyspnea, Jaundice, Diarrhea, Oliguria, Increased circulating IgM level, Conjunctivi... ORPHA:99824
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Recurrent upper respiratory tract infections, Hyperammonemia, Vomiting, Pancreatitis OMIM:620137
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Cleft lip, D... OMIM:618348
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Respiratory insufficiency, Dysphagia OMIM:618230
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Abnormal circulating carnitine concentration, Renal tubular acidosis, Decrease... ORPHA:431361
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Skin rash, Autoimmunity, System... ORPHA:90036
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertri... ORPHA:280365
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestat... ORPHA:65682
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Systemic lupus erythematosus, Leukopenia, Monocytosis,... OMIM:616871
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Hepatic failure, Recurrent pneumonia, Chronic diar... OMIM:615207
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Asthma, Recurrent p... OMIM:614379
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Failure to thrive in infancy, Spleno... ORPHA:834
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Microdontia, Decreased circulating IgG level, ... OMIM:620005
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Increased total bilirubin, Hyperprolinemia, Dystonia OMIM:616299
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis, Abnormality of the dentition ORPHA:90368
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... ORPHA:370348
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... ORPHA:656
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Shigellosis
Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Paralytic ile... ORPHA:810
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Glutaric aciduria, 3-Methylglutaric aciduria,... ORPHA:26791
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... OMIM:219700
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hepatosplenomeg... OMIM:603553
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertens... ORPHA:494424
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Gingival overgrowth, Nephrotic syndrome, Chronic co... OMIM:619428
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Bundle branch block, High, narrow palate, Hepatoblasto... ORPHA:373
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Intestinal malrotation, Hepat... ORPHA:436252
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Nephropathy, Hemolytic anemia, Hepatom... ORPHA:809
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo... ORPHA:398124
Aggressive Systemic Mastocytosis
Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Hepatosplenomegaly, Lymp... ORPHA:98850
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Hyperhidrosis, Lymphadenopathy ORPHA:86893
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear ... OMIM:617718
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Anti-glomerular basement membrane-... OMIM:233450
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... ORPHA:179494
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Arteria lusoria, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal respiratory di... ORPHA:221139
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Dental crowding, Myocardial infarction, Methioninuria, Hyperhomocystinemia, St... OMIM:236200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid... ORPHA:54251
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... ORPHA:447
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati... ORPHA:417
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of... ORPHA:79086
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... OMIM:245900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Chylous Ascites
Ascites, Abnormal intestine morphology, Pancreatitis ORPHA:1160
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Mucopolysa... ORPHA:584
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dyspnea, Diarrhea, Elevated urinary dopamine level, Elevat... ORPHA:230
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Microcytic anemia, Iron deficiency anemia, Hypoalbuminemia, H... ORPHA:398063
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... OMIM:145001
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Neonatal asphyxia, Hepatitis, Hypochromic microcytic an... ORPHA:440713
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Precocious atherosclerosis, Pulmonar... ORPHA:444490
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo... OMIM:240300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splen... OMIM:612714
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Elevated circu... ORPHA:90051
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting, Hepatic steatosis, Bi... OMIM:614921
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Myocardial infarctio... ORPHA:679
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Hypersensitivity pneumo... ORPHA:133
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:158048
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Hypohidrosis, Thrombocytopenia, Amelogenesis imperf... OMIM:612783
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Vomiting, I... OMIM:238600
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Downturned corners of mouth, Gastroesophageal reflux, High palate, Widely spaced... OMIM:618268
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Pyloric stenosis,... OMIM:615577
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Podoc... OMIM:617575
Atelis Syndrome 1
Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Carious teeth, Thrombocytopen... OMIM:620184
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, Nephrotic syndro... ORPHA:1192
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypocholesterolemia, De... OMIM:212065
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Prominent superficial veins, Insulin-resi... OMIM:608600
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure ORPHA:60
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Diarrhea, Lym... ORPHA:56425
Japanese Encephalitis
Hyponatremia, Respiratory distress, Neutrophilia, Pulmonary edema, Diarrhea, Increased circulatin... ORPHA:79139
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Elevat... OMIM:257200
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase... OMIM:618892
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... OMIM:269200
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Neutropenia, Lymp... OMIM:616395
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu... OMIM:238970
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Failure to thrive, Psoriasiform dermatitis, Recurrent skin infe... OMIM:615508
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Enuresis nocturna, Otitis m... ORPHA:420741
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv... ORPHA:724
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal i... ORPHA:91500
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea... ORPHA:85414
Vici Syndrome
Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Abnormal thymu... OMIM:242840
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Mirage Syndrome
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Microphallus, A... OMIM:617053
Wells Syndrome
Vasculitis, Eosinophilia ORPHA:901
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48104
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, I... ORPHA:90363
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Red... OMIM:314050
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Increased circulating lacta... ORPHA:232
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Nodular regene... ORPHA:247691
Hennekam Syndrome
Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Hypocalcemia, Abnormal dental mo... ORPHA:2136
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... ORPHA:811
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Pediatric-Onset Graves Disease
Anti-thyroid peroxidase antibody positivity, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, I... ORPHA:525731
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa... OMIM:232240
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Vomiting, Nephropathy, Hypothyroid... ORPHA:550
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Lymphadenitis, Inflammation of the large inte... OMIM:615895
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Delayed puberty, Nephro... OMIM:232200
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal... ORPHA:30
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Oral ulcer, Colit... OMIM:616744
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated circulating C-... ORPHA:676
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:615139
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Delayed puberty, Bronchiectasis, Decreased body weight ORPHA:477814
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn... ORPHA:141152
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Alg12-Cdg
Hypoalbuminemia, Short philtrum, Gastroesophageal reflux, Hypocholesterolemia, Micropenis, Hypona... ORPHA:79324
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,... OMIM:275350
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Arthritis, Cherry red ... OMIM:228000
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Carious teeth, Hepatitis, Hypohidrosis, Thick vermilion border,... ORPHA:363523
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Increased circulating ferritin concentration, S... OMIM:618398
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Adrenal hypoplasia, Pyloric stenosis, Rec... OMIM:613177
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev... OMIM:611182
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... ORPHA:2590
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... ORPHA:36238
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Glycogen Storage Disease Iv
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopathy, Ascites, Cirrhosis, He... OMIM:232500
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Myocarditis, Splenomegaly, Autoimmune antibody po... ORPHA:3386
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi... ORPHA:264580
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Abnormal dental enamel morpho... ORPHA:1896
Incontinentia Pigmenti
Delayed eruption of teeth, Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Conical t... OMIM:308300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple... ORPHA:77260
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointest... ORPHA:95455
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc... ORPHA:514
Incontinentia Pigmenti
Delayed eruption of teeth, Skin rash, Eosinophilia, Telangiectasia of the skin, Abnormal dental e... ORPHA:464
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Recurrent pneumonia, Restrictive ventilatory defect OMIM:602271
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive ORPHA:172
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Fanconi Anemia, Complementation Group F
Failure to thrive, Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytop... OMIM:603467
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Splenomegaly, Abnormal... ORPHA:77261
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Recurrent pneumonia, High palate, Hepatomegaly OMIM:615637
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Thin upper lip... ORPHA:79332
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... OMIM:611881
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Trichohepatoenteric Syndrome 1
Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Intractable diarrhea, Bifid uvula, Long philt... OMIM:222470
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem... ORPHA:369
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Increase... OMIM:619472
Gaisböck Syndrome
Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Overwe... ORPHA:90041
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, Elevated g... ORPHA:53035
Leptospirosis
Respiratory distress, First degree atrioventricular block, Uveitis, Cough, Hepatomegaly, Cellular... ORPHA:509
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreas... OMIM:612301
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... OMIM:232800
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Acitretin/Etretinate Embryopathy
Conotruncal defect, High palate, Third degree atrioventricular block, Hypoplasia of the thymus, B... ORPHA:40366
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... OMIM:248600
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Microlissencephaly
Pneumonia ORPHA:1083
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decrease... OMIM:601495
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumi... ORPHA:930
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... ORPHA:1959
Alpha-Mannosidosis
Hepatomegaly, Recurrent respiratory infections, Open bite, Splenomegaly, Dental malocclusion, Gin... ORPHA:61
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... OMIM:612387
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Cardiomyopathy, Thin vermilion border, Hypogonadism OMIM:608540
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... OMIM:613280
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Palpitation... OMIM:619290
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Hyperhidros... ORPHA:83317
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Vomiting, Hepatomegaly, Neutrophilia, Leuk... OMIM:249100
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Medi... ORPHA:79128
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, T... OMIM:620233
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Cirrh... OMIM:178500
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria, Macroglossia ORPHA:309288
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Gastrointestinal inflammation, Iron deficiency anemia, Gastroesophageal reflu... ORPHA:79408
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Inappropriate antidi... ORPHA:79330
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Dysphagia, Type I diabetes mellitus, Dela... ORPHA:412057
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Aapoaiv Amyloidosis
Abnormal lung morphology, Paraproteinemia, Left bundle branch block, Sinus bradycardia, Chronic p... ORPHA:439232
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... ORPHA:379
Catastrophic Antiphospholipid Syndrome
Myocardial infarction, Pulmonary embolism, Lupus anticoagulant, Abnormal jugular vein morphology,... ORPHA:464343
Alport Syndrome
Mesangial hypercellularity, Vomiting, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C... ORPHA:63
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... OMIM:614602
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia... OMIM:620085
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... ORPHA:1414
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Poems Syndrome
Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Hypothyroidism, Abnormality ... ORPHA:2905
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vascular dilatation,... ORPHA:3287
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Tachycardia, Me... ORPHA:35858
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia, Type I diabete... ORPHA:290
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... OMIM:608594
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Castleman Disease
Renal insufficiency, Increased circulating interleukin 6 concentration, Generalized lymphadenopat... ORPHA:160
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipi... OMIM:220110
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Splenomegaly, Abnormality of the urinary system, Hepatomegaly ORPHA:2204
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Diarrhea, Esop... ORPHA:75234
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Patent ductus arteriosus, Mi... OMIM:606003
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Nephroblastoma, High, narrow palate, Cryptorchidism, Abnormal ... ORPHA:2849
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Diarrhea, Wheezing, Erythro... ORPHA:79456
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Antinuclear... OMIM:613471
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnormally low ... OMIM:617341
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev... OMIM:613327
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... OMIM:613807
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, R... ORPHA:436271
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... ORPHA:75233
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Small for gestational age, Apnea, Bronchiectasis, Hyperammonemia, Dysphagia, Respira... OMIM:618253
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S... OMIM:301050
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Uveitis, Conjunctivit... ORPHA:32960
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Fulminant hepatitis, Jaundice, Gingival blee... OMIM:618549
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... ORPHA:3318
Bronchial Neuroendocrine Tumor
Nonproductive cough, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy... ORPHA:97287
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia ORPHA:713
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Carious teeth, Splenomegaly, Recur... OMIM:604173
Bone Marrow Failure Syndrome 3
Aplastic anemia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neutropenia, Micr... OMIM:617052
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:435651
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... ORPHA:319552
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis ORPHA:93476
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Diabetes insip... OMIM:225750
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Congestive heart failure, Hypert... ORPHA:225
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Neonatal respiratory distress, Proteinuria, Small for gestationa... ORPHA:97362
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... ORPHA:167
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... ORPHA:90003
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Dysbetalipoproteinemia
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertr... ORPHA:412
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Downturned corners of mouth, ... OMIM:618347
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... OMIM:214500
Parathyroid Carcinoma
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:143
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ... ORPHA:33577
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Chro... OMIM:613489
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Narrow palate, Macroglossia, High palate, Hypoplasia of the thymu... OMIM:617022
Whipple Disease
Myositis, Myocardial infarction, Uveitis, Cough, Hypothyroidism, Infectious encephalitis, Hyponat... ORPHA:3452
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Dyspnea, Nephropathy, Ascites ORPHA:87876
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy... ORPHA:520
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Anhidrosis OMIM:614979
Slc35A1-Cdg
Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Treacher-Collins Syndrome
Hypoplasia of penis, Glossoptosis, Hypoplasia of the thymus, High palate, Abnormal dental morphol... ORPHA:861
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Recurrent respiratory infections, Diarrhea, ... ORPHA:90035
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Lujo Hemorrhagic Fever
Respiratory distress, Elevated circulating C-reactive protein concentration, Crackles, Nonproduct... ORPHA:319213
Spinocerebellar Ataxia, Autosomal Recessive 21
Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis OMIM:616719
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Malabsorpt... ORPHA:85445
Bloom Syndrome
Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Recurrent ... OMIM:210900
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus OMIM:619685
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... OMIM:618165
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Di... ORPHA:99745
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria ORPHA:419
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Anemia ORPHA:2668
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Elev... OMIM:615234
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Autoimmunity, Nodular pattern ... ORPHA:1546
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, C... OMIM:154230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Episodic hyperhidro... OMIM:223900
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro... OMIM:616354
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp... ORPHA:94093
H Syndrome
Microcytic anemia, Micropenis, Psoriasiform dermatitis, Abnormality of the kidney, Cleft upper li... ORPHA:168569
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... OMIM:607426
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Myocardial infarction, Pancreatoblastoma, Neoplasm ... ORPHA:99889
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia OMIM:617827
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia ... ORPHA:2470
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Peptic ulce... OMIM:145981
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine ... OMIM:608799
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogonadism, Decreased serum testosterone ... OMIM:201100
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:99880
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for ges... OMIM:601820
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... OMIM:226300
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating ... OMIM:612852
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Heart block, Tachypnea, Increased circulating ... ORPHA:542323
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... ORPHA:1303
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Cednik Syndrome
Proteinuria, Abnormality of the dentition, Congestive heart failure, Nephrotic syndrome, Stroke, ... ORPHA:66631
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... OMIM:611590
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Mirizzi Syndrome
Dark urine, Elevated hepatic transaminase, Tachycardia, Nausea, Jaundice, Gallbladder perforation... ORPHA:521219
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Alström Syndrome
Respiratory distress, Abnormality of dental color, Urinary incontinence, Decreased response to gr... ORPHA:64
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Proteinuria, Microvesicular hepatic steatosis, Asthma... OMIM:619377
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art... OMIM:251290
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... OMIM:276700
Mevalonic Aciduria
Splenomegaly ORPHA:29
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyper... ORPHA:358
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Relapsing Polychondritis
Uveitis, Large vessel vasculitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Glom... ORPHA:728
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Carious teeth, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Intersti... OMIM:127550
Myeloma, Multiple
Paraproteinemia OMIM:254500
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Orofacial cleft, Hepati... OMIM:615630
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... OMIM:619046
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Dyspnea, Prim... OMIM:239200
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... ORPHA:70475
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Thick lower lip vermilion, Recurrent upper respiratory tract infections,... ORPHA:583
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Narrow mouth, Hypochrom... OMIM:619147
Agel Amyloidosis
Tongue atrophy, Proteinuria, Respiratory tract infection, Xerostomia, Stage 5 chronic kidney dise... ORPHA:85448
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Carious teeth, Splenomegaly, Anemia, Elevated circulat... OMIM:259700
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... ORPHA:3202
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Decreased iduronate sulfatase level, Intestinal pseudo-o... OMIM:309900
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Abnormal dental ... ORPHA:1334
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Diarrhea, Hypogeusia, ... ORPHA:2930
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... OMIM:145980
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Polymyositis
Elevated circulating creatine kinase concentration, Myocardial infarction, Gastroesophageal reflu... ORPHA:732
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:251880
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Neonatal respiratory distress, Respiratory tract infection, Atele... ORPHA:244
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of ... ORPHA:464329
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure ORPHA:664
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Smooth philtrum, Proteinuria, Dec... OMIM:277400
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... OMIM:216360
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Splenomegaly, Cryptorchid... OMIM:618440
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti... ORPHA:97244
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level ORPHA:1296
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Tented upper lip... OMIM:615673
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Bowel incont... ORPHA:330001
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Recurrent sinopulmonary infections,... ORPHA:647
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Seve... ORPHA:83617
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... OMIM:613070
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Joubert Syndrome 33
Splenomegaly OMIM:617767
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, Hepatosplenomegaly, ... ORPHA:96123
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Trichinellosis
Skin rash, Increased circulating IgE level, Retinal hemorrhage, Central retinal artery occlusion,... ORPHA:863
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, D... OMIM:251900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age,... ORPHA:263455
Chops Syndrome
Gastroparesis, Tracheomalacia, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Crypt... OMIM:616368
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Thin upper lip vermilion, Failure to thrive, Hypospadias, Small for gestati... OMIM:607143
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level OMIM:616910
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hepatic failure, Biliary cirrhosis, Ch... OMIM:617394
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,... ORPHA:324
Aredyld Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormality of the urete... ORPHA:1133
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Asthma, Obesity, Male hypog... OMIM:619471
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Wide mouth, Rhinitis, Mucopolysacchariduria, Ev... ORPHA:93474
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,... ORPHA:171442
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Diabetes mellitus, Myocardial infarc... ORPHA:96253
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Respiratory distress, ... OMIM:615512
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Oligosacchariduri... ORPHA:534
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent... OMIM:252920
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Diarrhea, In... OMIM:601847
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Congestive heart failure, Patent ductus arteriosu... ORPHA:354
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Hepatic cysts, Glomerular subepithelial immune-complex de... OMIM:614377
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, C... ORPHA:465508
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Acute Liver Failure
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Hyperventil... ORPHA:90062
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Apnea, Cough, Splenomegaly, Anemia, Stridor, Gastroesophageal r... OMIM:230900
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Asthma, Dentinogenesis imperfecta, Obesity, Delayed eruption of permanent tee... OMIM:619269
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory distress, Tachycardia, Respiratory failur... ORPHA:264675
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Nephrogenic diabetes insipi... ORPHA:213
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Dilated cardiomyopa... OMIM:230500
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, H... OMIM:616589
Dyskeratosis Congenita
Abnormality of neutrophils, Hyperhidrosis, Periodontitis, Hepatomegaly, Abnormal testis morpholog... ORPHA:1775
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Di... OMIM:235555
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Tachypnea, Hepatitis, Hyperammone... ORPHA:415
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Reduced level of N-ac... OMIM:224120
Caffey Disease
Increased circulating antibody level ORPHA:1310
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... OMIM:602782
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... ORPHA:30391
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, D... OMIM:253260
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lympha... OMIM:235255
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Hyperhidrosis, Vom... ORPHA:466677
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho... ORPHA:59303
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Cry... OMIM:227646
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hepatic steatosis, Hypertriglyceridemia, Hepatitis, Obesity, Cholest... ORPHA:209902
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Thrombo... ORPHA:508542
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop... OMIM:610910
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Cleft palate, Hematuria, N... OMIM:161200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Cough, Nephropathy, Achalasia, Tracheobr... ORPHA:1018
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, High, narrow palat... ORPHA:228308
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas OMIM:134610
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Cryptorchidism, Carious teeth, Transient hypogammaglobulinemia of infan... ORPHA:3132
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p... OMIM:619488
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or... ORPHA:556
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Thick lower lip vermilion, Respiratory insufficiency, High... ORPHA:2135
Lichen Planopilaris
Neoplasm of the oral cavity, Abnormal intestine morphology, Hepatitis ORPHA:525
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... OMIM:158350
Acute Disseminated Encephalomyelitis
Viral hepatitis, Respiratory failure requiring assisted ventilation, Anti-myelin oligodendrocyte ... ORPHA:83597
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Abnormality of the dentition, Decreased circulating total IgM, G... OMIM:620040
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... OMIM:602347
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Recurrent respiratory infections, Tented upper lip vermilion, Diab... OMIM:614231
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent upper respira... OMIM:252930
Fucosidosis
Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolate... OMIM:230000
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... ORPHA:26793
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent upper respira... OMIM:252900
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Abnormal oral mucosa morphology, Abnormal blood ion con... ORPHA:79404
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... ORPHA:221
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increased urinary O-linked sialop... ORPHA:812
Familial Tumoral Calcinosis
Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ... ORPHA:53715
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Elevated circulating creatine kinase concentration, Elevated ci... OMIM:608779
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting... ORPHA:31204
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Reduced circulating aldolase concentra... ORPHA:57
Giant Cell Arteritis
Hyperhidrosis, Cough, Abdominal aortic aneurysm, Diabetes insipidus, Sudden cardiac death, Medias... ORPHA:397
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary gland morpholo... ORPHA:2363
Visceral Myopathy 1
Aganglionic megacolon, Intestinal pseudo-obstruction, Gastroparesis, Diarrhea, Microcolon, Megacy... OMIM:155310
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute leukemia, Hypoth... ORPHA:99812
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... OMIM:614455
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... ORPHA:1655
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Esophageal varix, Stage 5 chronic kidney... OMIM:243910
Cornelia De Lange Syndrome 1
Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth... OMIM:122470
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula... OMIM:227810
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrho... OMIM:301072
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Gingival overgrowth, Dys... OMIM:230600
Temporal Arteritis
Retinal arteritis OMIM:187360
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... ORPHA:411703
Immunodeficiency 77
Gastroparesis, Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous ab... OMIM:619223
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Apnea, Abnormality of the tonsils, Malabsorption, Sp... ORPHA:579
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Elevated c... OMIM:300842
Sialuria
Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Macroglossia, High palate,... OMIM:269921
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte ar... OMIM:253200
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Fetal ascite... OMIM:607625
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Failure to thrive... OMIM:619418
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction, Respiratory tract infection, Dyspnea, Wheezing, Crackles, Produc... ORPHA:60033
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology, Abnormal urine alpha-k... ORPHA:31
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Cardiomegaly, Hepatoblastoma, Vesicoureteral ref... ORPHA:116
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Heparan sulfate excretion i... OMIM:607015
Niemann-Pick Disease, Type C1
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Prominent scalp veins, Natal tooth, Hypertriglyceridemia, Hypospadias,... OMIM:264090
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, U... ORPHA:85408
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... OMIM:201475
Gm1 Gangliosidosis Type 1
Gingival overgrowth, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Urinary glycosaminoglycan ... ORPHA:79255
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:614582
Scleromyxedema
Abnormal coronary artery morphology, Elevated circulating creatine kinase concentration, Transien... ORPHA:167635
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Dubowitz Syndrome
Delayed eruption of teeth, Hypospadias, Eczema, Aplastic anemia, Carious teeth, Cryptorchidism, V... OMIM:223370
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:157
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Dyspnea, Leukopenia, Pa... OMIM:255125
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... ORPHA:449280
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-res... ORPHA:103918
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, High, narrow palate, Abnormal lung lobation, Renal cyst, Nephrocalcin... ORPHA:369837
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Takayasu Arteritis
Arteritis OMIM:207600
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia OMIM:619057
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... ORPHA:733
Rh Deficiency Syndrome
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Tachycardia, Anisocytosis, Positive direct ... ORPHA:71275
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Heparan sulfate excretion i... OMIM:607014
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Pneumonia, Bronchitis, Cardiomegaly, Patent duct... OMIM:601005
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Tremor, Hyperammonemia, Hyperproli... ORPHA:3008
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bro... ORPHA:662
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin... ORPHA:454831
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... OMIM:607626
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Allergic rhinitis, Eczema, Patent ductus arteriosus... OMIM:618162
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Increa... OMIM:223360
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A... ORPHA:1454
Holoprosencephaly
Hypoplasia of penis, Abnormality of the spleen, Deep philtrum, Gastroesophageal reflux, Hyponatre... ORPHA:2162
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Gastroesophageal reflux, Hepatomegaly, Abn... ORPHA:191
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... ORPHA:210122
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch... ORPHA:71493
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin... OMIM:137920
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Prominent supe... OMIM:151660
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... ORPHA:276621
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... ORPHA:2796
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Aceruloplasminemia
Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c... ORPHA:48818
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia OMIM:314300
Ddost-Cdg
Elevated hepatic transaminase, Nephrotic range proteinuria, Gastroesophageal reflux, Constipation... ORPHA:300536
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Proteus-Like Syndrome
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Open bite, Abnormality of the parathyroid... ORPHA:2969
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Chronic kidney dis... ORPHA:261222
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly OMIM:618541
Congenital Erythropoietic Porphyria
Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, Leukopenia, Erythroi... ORPHA:79277
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Everted upper lip vermilion, Apnea, Cardiomegaly, Splenomegal... OMIM:608013
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... OMIM:615862
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Coronary artery dissection, Abnormality of the kidney, Stage 5 ... ORPHA:2614
Plasminogen Deficiency, Type I
Duodenal ulcer, Decreased level of plasminogen, Recurrent upper respiratory tract infections, Nep... OMIM:217090
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia, Vasculitis ORPHA:90026
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... OMIM:616629
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, High palate, Elevated gamma-glutamyltransferase level,... OMIM:614866
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Hepatomegaly, Recurrent respiratory infections, Conical tooth, Splenomegaly, Defectiv... OMIM:612132
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly, Autoimmune ... ORPHA:77293
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... OMIM:167800
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper respiratory tract... OMIM:253220
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Dysphagia, Nephrocalcinosis, Hypertensi... OMIM:617913
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Recurrent respiratory infections, Carious teeth, Splenomegaly, ... ORPHA:742
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Dent Disease 2
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:300555
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Atrioventricular block, Otitis media, Aspiration pneumonia, Chronic ot... ORPHA:581
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Small for gestationa... OMIM:307030
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... OMIM:609015
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Vomiting, Hepatic steatosis, M... ORPHA:71212
Feingold Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Orofacial cleft, Annular... ORPHA:1305
Refsum Disease
Renal insufficiency, Heart block, Splenomegaly, Respiratory insufficiency, Cardiomyopathy ORPHA:773
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... ORPHA:324636
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H... OMIM:616026
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Weight loss, Hematuria, ... ORPHA:71273
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Chronic otitis media, Multicystic kidney dysplasia, Abnormal denta... ORPHA:2750
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Respiratory insufficiency... ORPHA:18
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Decre... OMIM:618913
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py... OMIM:278300
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Angina pectoris, Abnormality of the tonsils, Sple... ORPHA:93473
Martin-Probst Syndrome
Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Thick lower lip vermilion, Dental... OMIM:300519
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Thick lower lip vermili... OMIM:252940
Jacobsen Syndrome
Smooth philtrum, Recurrent respiratory infections, Multicystic kidney dysplasia, Eczema, Intestin... ORPHA:2308
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... ORPHA:2357
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Recurrent skin infections,... ORPHA:33001
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Recurr... ORPHA:309282
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity ORPHA:83600
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Anhidrosis, Proteinuria, Delayed eruption of primary teeth, Ca... OMIM:216400
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr... OMIM:192315
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... OMIM:166300
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... ORPHA:98908
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine blocking test, Nausea, Extraa... ORPHA:29072
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Ureteral atresia, Renal tubula... ORPHA:1493
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia ORPHA:2959
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Complement Factor B Deficiency
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration OMIM:615561
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Diarrhea, Steatorrhea, High palate, Neu... OMIM:617941
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Abnormal lung lobation, Neonatal respiratory distress, Hypospadias, Esophageal atresia,... OMIM:265380
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Small for gestational age, Unilateral renal age... ORPHA:93101
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Polyuria, Pulmonary art... OMIM:606721
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Conjunctivitis,... OMIM:263700
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Anhidrosis, Proteinuria, Small for gestational age, Delayed er... OMIM:133540
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p... ORPHA:284426
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Patent ductus... ORPHA:251066
Plague
Respiratory distress, Chapped lip, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, In... ORPHA:707
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Primary adrenal insuffi... OMIM:261515
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Erythrodontia, Abnormal circulating enzyme... ORPHA:95159
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... OMIM:267010
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Supernumerary tooth, ... ORPHA:86818
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Apnea, Premature loss ... ORPHA:667
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Small for gestational age, Unilater... ORPHA:2260
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... ORPHA:411634
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Cranioectodermal Dysplasia 2
Cholangitis, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia, Hepatomegaly... OMIM:613610
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Desmosterolosis
Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia, Splenomegaly, Patent ductus art... ORPHA:35107
Multiple Sulfatase Deficiency
Splenomegaly, Mucopolysacchariduria, Smooth philtrum, Hepatomegaly ORPHA:585
Genetic Recurrent Myoglobinuria
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Recurrent myoglobinuria... ORPHA:99845
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomegaly, Progressive alveolar ridge hypertropy, Hepatom... OMIM:252500
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... ORPHA:1652
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria, Natal tooth OMIM:616901
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Opisthotonus ORPHA:95232
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Large for gestationa... OMIM:229850
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid... ORPHA:391641
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Thoracic aortic aneurysm, Ileal atres... OMIM:619351
Localized Scleroderma
Fasciitis, Autoimmunity, Abnormality of the kidney, Abnormality of the dentition, Raynaud phenome... ORPHA:90289
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Occipital Horn Syndrome
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, Venous insufficiency, High, nar... ORPHA:198
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Abnormal medu... ORPHA:79243
Noonan Syndrome
Hepatomegaly, Cryptorchidism, Abnormality of the spleen, Abnormality of the lymphatic system, Abn... ORPHA:648
Adenine Phosphoribosyltransferase Deficiency
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Atrial fibrillation, ... ORPHA:976
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Decreased LDL chole... ORPHA:14
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Cogan Syndrome
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... ORPHA:1467
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Preco... ORPHA:845
Smith-Lemli-Opitz Syndrome
Dental crowding, Abnormal lung lobation, Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal ... OMIM:270400
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Hypersplenism OMIM:616028
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Muir-Torre Syndrome
Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma ... ORPHA:587
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Cryptorchidism, Abnormal... ORPHA:98905
Paroxysmal Nocturnal Hemoglobinuria 2
Dyspnea, Paroxysmal nocturnal hemoglobinuria, Diarrhea, Hemolytic anemia OMIM:615399
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Bronchiectasis, Interstitial emphysema, Inflammation of the large... OMIM:619708
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Cryptorchidism, Neonatal asphyxia, Heart murmur, Hypoplasia of teeth, Cleft palate, ... ORPHA:2728
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A... ORPHA:904
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal r... ORPHA:95430
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I... ORPHA:347
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Hy... ORPHA:79264
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Asthma, Chronic diarrhea, Telan... OMIM:601675
Amoebiasis Due To Free-Living Amoebae
Abnormality of taste sensation, Sinusitis, Pneumonia, Nausea, Pustule, Respiratory tract infectio... ORPHA:68
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom... ORPHA:646
Orofaciodigital Syndrome Viii
High palate, Median cleft lip, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Apnea, Splenomegaly, Lacticaciduria, C... OMIM:252010
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Delayed eruption of teeth, Splenomegaly, Patent ductus arteri... OMIM:135500
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... OMIM:619609
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Orofaciodigital Syndrome I
Lobulated tongue, Hepatic fibrosis, High palate, Hamartoma of tongue, Cleft upper lip, Supernumer... OMIM:311200
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Splenom... OMIM:269860
Mucolipidosis Type Ii
Aortic regurgitation, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:576
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Malt Lymphoma
Hyperhidrosis, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... ORPHA:1606
Juvenile Dermatomyositis
Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:93672
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Hypertriglyceridemia, Prote... OMIM:619127
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Mitral ... OMIM:619167
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Small bowel divertic... ORPHA:90349
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyroid hypoplasia, ... OMIM:620186
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... ORPHA:2072
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Na... ORPHA:1307
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal ... ORPHA:365
Bohring-Opitz Syndrome
Bilateral cleft palate, Neonatal respiratory distress, Intestinal malrotation, Supernumerary nipp... OMIM:605039
Cirrhosis, Familial
Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Mucopolysaccharidosis Type 2, Severe Form
Increased size of nasopharyngeal adenoids, Abnormal dental morphology, Chronic diarrhea, Peripher... ORPHA:217085
Roifman-Chitayat Syndrome
Arthritis, Thin lower lip vermilion, Pneumonia, Ectopic kidney OMIM:613328
Schinzel-Giedion Syndrome
Respiratory distress, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philt... ORPHA:798
Camurati-Engelmann Disease
Delayed eruption of teeth, Hepatomegaly, Cachexia, Carious teeth, Splenomegaly, Leukopenia, Urina... ORPHA:1328
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia OMIM:271510
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy OMIM:616881
Cockayne Syndrome Type 3
Gastroesophageal reflux, Hepatomegaly, Renal hypoplasia, Cardiomyopathy, Urinary retention, Incre... ORPHA:90324
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Neonatal respi... OMIM:617595
Mucopolysaccharidosis Type 2, Attenuated Form
Increased size of nasopharyngeal adenoids, Abnormal dental morphology, Chronic diarrhea, Peripher... ORPHA:217093
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropenis, Esophage... ORPHA:96149
Multiple Sulfatase Deficiency
Splenomegaly, Mucopolysacchariduria, Hepatomegaly OMIM:272200
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Coarctat... OMIM:617729
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Downturned corners of mouth, Nephropathy, Proteinuria, Cachexia ORPHA:2774
Ohdo Syndrome
Proteinuria, Cryptorchidism, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Nar... OMIM:249620
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfac... ORPHA:60025
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly ORPHA:3035
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Hypertension, Ascites,... OMIM:610965
Hajdu-Cheney Syndrome
Hepatomegaly, Recurrent respiratory infections, Hypospadias, Mitral stenosis, Intestinal malrotat... ORPHA:955
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Delayed eruption of p... ORPHA:839
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration, Ri... OMIM:253700
Rheumatoid Arthritis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Vasculitis, We... OMIM:180300
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... ORPHA:368
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly OMIM:231005
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Hyperhidrosis... ORPHA:1332
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Abnormality of T cell physiology, Psori... ORPHA:2237
Meckel Syndrome, Type 1
Adrenal hypoplasia, Asplenia, Lobulated tongue, Accessory spleen, Malformation of the hepatic duc... OMIM:249000
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Hyper... OMIM:231530
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation OMIM:612918
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Recurrent respiratory infections,... ORPHA:404454
Joubert Syndrome 21
Apnea, Splenomegaly, Dyspnea, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Dysphagia, H... OMIM:615636
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormality of the adrenal glands, Abnormal parot... ORPHA:252164
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Adrenal overactivity ORPHA:139411
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, ... ORPHA:70588
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Failure to thrive, Proteinuria, Glomerular basement membrane lamellation, Tr... OMIM:308940
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Ab... ORPHA:456312
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy ORPHA:26790
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Neurofibroma
Neoplasm of the trachea, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Int... ORPHA:252183
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Renal insufficiency, Glomerulopathy, Proteinuria, Skin... ORPHA:761
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati... ORPHA:86816
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Nephrocalcinosis, Downturned c... ORPHA:79500
African Trypanosomiasis
Urinary incontinence, Conjunctivitis, Vomiting, Iritis, Nausea, Abnormal EKG, Hepatomegaly, Abnor... ORPHA:3385
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Tricuspid stenosis, Asplenia, Esophageal atresia, Patent ductu... OMIM:164280
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ... OMIM:620300
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Splenomegaly, Deep philtrum, Cryptorchidism, Hepatosplenomegaly... OMIM:613563
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Diarrhea, Tachypnea, Abnormal blood io... ORPHA:173
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th... OMIM:619155
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... ORPHA:2036
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Gastroesophageal ref... ORPHA:280633
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Elevated circulating creatine kinase concentration, Car... OMIM:616878
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:612300
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Absce... ORPHA:642
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Pneumonia, Heart murmur ORPHA:1867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... OMIM:253800
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormality of the tongue, Dysphagia, Weight loss, Aspiration pneumonia, Cough ORPHA:216866
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Hyp... ORPHA:90790
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... OMIM:181270
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Anteriorly placed anus, Downturned corners of mouth, Hepatic fibro... OMIM:243800
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system OMIM:120200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Hypospadias, Crypt... ORPHA:353281
Pmm2-Cdg
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Intracrania... ORPHA:79318
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Hyperbilirubinemia ORPHA:464321
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation ORPHA:2143
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:136680
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Chronic Graft Versus Host Disease
Fasciitis, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Bronchiectasis, Bronchiolitis obli... ORPHA:99921
Bartter Syndrome, Type 2, Antenatal
Hyperaldosteronism, Impaired platelet aggregation OMIM:241200
Gapo Syndrome
Prominent scalp veins, Hepatomegaly, Retinal arteriolar tortuosity, High, narrow palate, Thick lo... OMIM:230740
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Jacobsen Syndrome
U-Shaped upper lip vermilion, Recurrent respiratory infections, Hypospadias, Cryptorchidism, Pylo... OMIM:147791
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Hiatus ... OMIM:251300
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Macroorchidism, Abnormali... ORPHA:93
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... ORPHA:90348
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Renal agenesis, Delayed eruption of primary teeth, Aplasia of the paroti... OMIM:149730
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Abnormal dental e... ORPHA:744
Cranioectodermal Dysplasia 1
Hepatomegaly, Recurrent respiratory infections, Malformation of the hepatic ductal plate, Renal m... OMIM:218330
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure, Thick vermilion bord... OMIM:617809
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Isometric tremor, Head titubation, Hyperbilirubinemia, Dystonia, Intention tremor OMIM:619475
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Kabuki Syndrome 1
Hemolytic anemia, Crossed fused renal ectopia, Anal stenosis, Intestinal malrotation, Premature t... OMIM:147920
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Renal insufficiency, Hypospadias... ORPHA:397715
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Hypokalemia, ... ORPHA:330021
Opitz Gbbb Syndrome
High palate, Vesicoureteral reflux, Recurrent aspiration pneumonia, Enlarged ovaries, Hypospadias... ORPHA:2745
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Velocardiofacial Syndrome
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Velopharyngeal insufficiency, Submu... OMIM:192430
Denys-Drash Syndrome
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma ORPHA:220
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Cleft palate, Tubulointerstitial nephritis, Enuresis, Widely spaced te... ORPHA:459061
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Leukocytosis, Renal hypoplasia, Downturned corners of ... OMIM:619321
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylot... OMIM:616843
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, Vesicoureteral reflux, Hypot... ORPHA:438213
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Deep philtrum, Recurren... ORPHA:314655
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d... OMIM:268200
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Aspiration pneumonia,... ORPHA:99772
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Skin rash, Diarrhea, Vasculitis, Increased serum zinc OMIM:601979
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Diabetes mellitus, Hypospadias, Allergic rhinitis, Impaired T cell function,... OMIM:176690
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thicken... OMIM:146255
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Annular pancreas, Abnormal lung lo... ORPHA:264450
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Gastroesophageal reflux, Dysphag... ORPHA:73230
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Bohring-Opitz Syndrome
Recurrent respiratory infections, Apnea, Nephroblastoma, Cardiomegaly, Cleft lip, Cleft palate, U... ORPHA:97297
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly, Hep... ORPHA:333
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Multiple renal cysts, Pulmonary hypoplasia, Abnormal pancreat... ORPHA:1190
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Pate... OMIM:617088
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, High palate, Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Aspir... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, High palate, Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Aspir... ORPHA:353277
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia, Hypoasparaginemia OMIM:615574
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Cystic Fibrosis
Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Meconium ileus, Malab... ORPHA:586
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Reduced force... OMIM:607155
Severe Oculo-Renal-Cerebellar Syndrome
Wide mouth, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Ogden Syndrome
Torticollis, Hyperbilirubinemia OMIM:300855
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:620138
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... ORPHA:3337
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Constipati... ORPHA:35069
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Renal Hypodysplasia/Aplasia 1
Proteinuria, Hypertension, Bilateral renal agenesis, Pulmonary hypoplasia, Renal dysplasia OMIM:191830
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Chronic constipation, Aspiration pneumonia, Long philtrum, Failure t... OMIM:616430
Aymé-Gripp Syndrome
Thin upper lip vermilion, Pericarditis, Proteinuria, Cryptorchidism, Patent ductus arteriosus, Cl... ORPHA:1272
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Hepatoblastoma, Hepatomegaly, Exaggerated median tongue furro... OMIM:312870
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia OMIM:266120
Marshall-Smith Syndrome
Irregular dentition, Apnea, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short... OMIM:602535
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Highly elevated creatine kinase, Reduced vital capacity, Exercise-induced myoglobin... ORPHA:352479
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Downturned corners of mouth, Short philtrum, Gastroesophageal reflux, E... ORPHA:500150
Orofaciodigital Syndrome Ix
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palat... OMIM:258865
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cryptorchidism, Patent ductus a... ORPHA:1465
Becker Muscular Dystrophy
Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati... ORPHA:98895
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L... OMIM:124000
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypohidrosis, Constipation, Hypogonadis... ORPHA:163746
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Downturned corners of mouth, Glossoptosis,... ORPHA:444077
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... OMIM:601346
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria, Microdontia ORPHA:1765
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Wagro Syndrome
Dental crowding, Proteinuria, Obesity, Hypertension, Nephroblastoma, Decreased testicular size OMIM:612469
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Diarrhea, Malabsorption, Hypovolemia, Enamel hypomineralization, Bicarbonaturi... ORPHA:47159
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
Cysticercosis
Iridocyclitis, Stroke, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Galloway-Mowat Syndrome
Proteinuria, Abnormality of the dentition, Hiatus hernia, Nephrotic syndrome, Nephropathy ORPHA:2065
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cleft lip, Renal cyst, Furrowed tongue, Hi... OMIM:616975
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Urinary incontinence... ORPHA:2729
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Cleft palate, Pelvic kidney,... OMIM:247200
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Thin upper lip vermilion, Protruding tongue, Decreased circulati... OMIM:617062
Renal Agenesis
Renal insufficiency, Proteinuria, Renal agenesis, Unilateral renal agenesis, Ureteral agenesis, H... ORPHA:411709
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria, Intestinal malrotation OMIM:222448
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Chronic constipation, Hi... OMIM:300472
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Duplicated collecting system, Abnormal morphology of the great vessels, Cleft palate, Downturned ... ORPHA:488642
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Vomiting, Decreased liver function OMIM:602199
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Elevated creatine kinase after exercise, Hypercapnia, High-output congesti... ORPHA:423
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Fontaine Progeroid Syndrome
High, narrow palate, Anteriorly placed anus, Oligodontia, Gastroesophageal reflux, Microdontia, M... OMIM:612289
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Diabetes mellitus, Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropat... OMIM:209010
Sandhoff Disease
Exaggerated startle response OMIM:268800
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Small for gestational age, Cryptorchidism, Supernumerary tooth, Telang... OMIM:268400
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, High palate, Vomiting,... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, High palate, Vomiting,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, High palate, Vomiting,... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, High palate, Vomiting,... ORPHA:93924
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Dysphagia, Urinary urgen... ORPHA:99027
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Arboleda-Tham Syndrome
Respiratory distress, Bilateral cryptorchidism, Downturned corners of mouth, Conjunctivitis, Shor... OMIM:616268
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Dental crowding, Hypercapnia, Respiratory insufficiency due to ... ORPHA:2020
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Increased circulating lactate dehydrogenase concentration... OMIM:309000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory... OMIM:614748
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala... ORPHA:793
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy ORPHA:100078
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Chronic constipation, ... OMIM:619482
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... OMIM:609049
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Hypoplastic philtrum, Cr... OMIM:616682
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Atelis Syndrome 2
Remnants of the hyaloid vascular system OMIM:620185
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Yunis-Varon Syndrome
Short philtrum, High palate, Aspiration pneumonia, Micropenis, Hypospadias, Cryptorchidism, Cardi... OMIM:216340
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Phacoanaphylactic Uveitis
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis ORPHA:209959
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Neuroocular Syndrome
Remnants of the hyaloid vascular system OMIM:619539
Norrie Disease
Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy ORPHA:649
Holoprosencephaly 2
Remnants of the hyaloid vascular system OMIM:157170

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 Lat

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 Lat.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Latem1(IMPC)Ics Deletion Mice
Lattm1(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Lattm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter