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Gene: Fcgr2b MGI:95499

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Fc receptor, IgG, low affinity IIb
Synonyms:
Ly-m20,  Fcr-3,  Fcgr2a,  Fcr-2,  F630109E10Rik,  LyM-1,  Ly-17,  FcgammaRIIB,  Fc[g]RII,  FcgRII,  Fc gamma RIIB,  CD32,  Fcgr2

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fcgr2b 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 predicted to be associated to Fcgr2b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... OMIM:615513
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... OMIM:601859
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Myeloma, Multiple
Paraproteinemia OMIM:254500
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Glycoprotein Storage Disease
Gout OMIM:232900
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Edema, Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopapul... OMIM:619644
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Dehydrat... ORPHA:79312
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Incre... OMIM:209950
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Autoimmunity, Eczema, Abnormal immunoglobulin level, Increased T cell count, Increase... ORPHA:98813
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Diarrhea, Dehydration, W... ORPHA:33355
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... ORPHA:567544
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb... OMIM:308230
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I... OMIM:618048
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr... ORPHA:397596
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G... OMIM:613496
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria, Edema, Hypertension, Seizure, Thrombocytopenia OMIM:189800
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... ORPHA:98848
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... OMIM:300310
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Abnor... ORPHA:91139
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level OMIM:193670
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Incr... ORPHA:37748
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat... OMIM:615767
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level... OMIM:616069
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulat... OMIM:618495
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Arterial... ORPHA:3287
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... OMIM:613779
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Chronic ... OMIM:304790
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... OMIM:620282
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased ci... OMIM:616005
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level... OMIM:243700
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... OMIM:617388
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Dehydration, Respiratory ... ORPHA:27
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Hypocomplementemic Urticarial Vasculitis
Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Pericardial effusion, An... ORPHA:36412
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM... OMIM:617099
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... ORPHA:91138
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Cervical ... ORPHA:83313
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Combined Malonic And Methylmalonic Aciduria
Generalized clonic seizure, Diarrhea, Dehydration, Methylmalonic aciduria, Vomiting, Failure to t... OMIM:614265
Propionic Acidemia
Hepatomegaly, Pancytopenia, Apnea, Eczema, Increased level of hippuric acid in urine, Thrombocyto... OMIM:606054
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... OMIM:301082
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia OMIM:616941
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Respiratory insufficiency, Hematuri... ORPHA:375
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ... OMIM:618394
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619386
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... OMIM:619858
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Hypertension, ... OMIM:105200
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... OMIM:619774
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... OMIM:240500
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... OMIM:300635
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic aciduria, Generalized clonic seizure, Dehydration, Me... ORPHA:289504
Complement Component 4A Deficiency
Vasculitis, Glomerulonephritis, Reduced hemolytic complement activity, Decreased circulating comp... OMIM:614380
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B ce... ORPHA:3261
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... OMIM:212050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Pedal edema, Nephrocalcinosis, Neph... ORPHA:342
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... ORPHA:1572
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Seizure, Leukopenia, Pleuritis, Malar... OMIM:152700
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Nephrit... ORPHA:93552
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... ORPHA:1830
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Edema, Bloody diarrhea, Hepatic steatosis, Hypot... OMIM:615846
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Respiratory insufficiency, Dehydration, Failure to thrive, Anemia ORPHA:28
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Diarrhea, Rec... ORPHA:169160
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Bilateral tonic-clonic seizure, Splenomegaly, Res... ORPHA:139406
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... ORPHA:276
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, E... OMIM:614034
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglobulin deposits, Pedal edema,... ORPHA:449395
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Hypoxem... ORPHA:70578
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Aicardi-Goutieres Syndrome 9
Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic a... OMIM:619487
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Arthritis, Restrictive ... ORPHA:575
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Legionnaires Disease
Abnormal lung morphology, Cough, Infectious encephalitis, Recurrent pharyngitis, Hepatitis, Respi... ORPHA:549
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease... OMIM:619510
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Tubulointerstitial nephritis, Lymphocytosis, Cough, Infectious encephaliti... ORPHA:139402
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Gastroeso... ORPHA:443811
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Rhinorrhea, Myocarditis, Leu... ORPHA:188
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Dehydr... OMIM:251000
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... OMIM:161900
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... ORPHA:656
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Glomerulonephritis, Infantile spasms, Tonic seizure, Bilateral to... OMIM:619428
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Pulmonary embolism, Periorbital ede... ORPHA:567548
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skin rash, Increased circulating IgA level, Pustule, Malar rash, Increased circulating ... OMIM:615934
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Abnormality of t... ORPHA:1163
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:608709
Nephrotic Syndrome, Type 6
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... OMIM:614196
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recu... OMIM:618935
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Seizure, Leukopenia, Vomiting,... OMIM:243500
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Recurrent respiratory in... OMIM:615816
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... OMIM:242860
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... ORPHA:449400
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Dehydration, Seizure, Abnormality of the ur... ORPHA:99886
Thyrocerebrorenal Syndrome
Renal insufficiency, Seizure, Myoclonus, Nephritis, Thrombocytopenia ORPHA:3327
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Dehydrati... ORPHA:2552
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... OMIM:614069
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem... OMIM:618999
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Granulomatosis With Polyangiitis
Sinusitis, Periorbital edema, Granulomatosis, Otitis media, Cough, Chronic otitis media, Glomerul... ORPHA:900
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Dyspnea, Diarrhea, Abno... ORPHA:54057
Atypical Hemolytic Uremic Syndrome
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... ORPHA:2134
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary... OMIM:616414
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... OMIM:618805
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... ORPHA:99931
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Seizure, Nephroti... OMIM:301006
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis OMIM:613783
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Lymphad... ORPHA:381
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liv... ORPHA:1304
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Asthma, Increased circulatin... ORPHA:634
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency... ORPHA:37042
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... ORPHA:905
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Renal insufficiency, Cryoglobulinem... ORPHA:33226
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Edema, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Seizur... OMIM:603552
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:613913
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Jaundice... ORPHA:1667
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Edema, Vasculitis, Weight loss, Arthriti... ORPHA:324964
Chylous Ascites
Ascites, Pancreatitis, Lymphedema ORPHA:1160
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... OMIM:212140
Zika Virus Disease
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M... ORPHA:448237
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ... OMIM:618282
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Cachexia... ORPHA:77297
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... ORPHA:275
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Seizure, 3-Methylglutaconic aciduria OMIM:619813
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Hyperprolinemia Type 1
Seizure, Nephropathy, Proteinuria, Prolinuria ORPHA:419
Shigellosis
Uveitis, Dehydration, Paralytic ileus, Bloody diarrhea, Hypovolemic shock, Conjunctivitis, Vomiti... ORPHA:810
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Asthma, Chronic dia... OMIM:614379
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... OMIM:617514
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Pauci-Immune Glomerulonephritis
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ... ORPHA:93126
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Tachypnea, Increased circulating mye... ORPHA:36234
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Proteinuria, Spleno... ORPHA:834
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... ORPHA:98850
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Hyperhidrosis, Blo... ORPHA:90068
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Bilateral tonic-clonic seizure with focal onset, Edema, Focal motor status epileptic... OMIM:614652
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive primary hyperald... ORPHA:171876
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... ORPHA:829
Polymyositis
Myocardial infarction, Gastroesophageal reflux, Cough, Hepatomegaly, Dilated cardiomyopathy, Vasc... ORPHA:732
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Minimal change glomerulonephritis, Resp... ORPHA:567546
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Focal Segmental Glomerulosclerosis 1
Proteinuria, Edema, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclero... OMIM:603278
Tularemia
Respiratory distress, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngea... ORPHA:3392
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... ORPHA:340
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife... ORPHA:99867
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti... OMIM:618523
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Increased circulating interleukin 6 concentration,... ORPHA:158061
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Central Diabetes Insipidus
Diarrhea, Dehydration, Weight loss, Seizure, Failure to thrive, Nocturia ORPHA:178029
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... ORPHA:117
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutr... ORPHA:289916
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract... OMIM:613179
Cystic Echinococcosis
Abnormal peritoneum morphology, Renal cyst, Elevated gamma-glutamyltransferase level, Peritoneal ... ORPHA:400
Immunodeficiency 22
Pericarditis, Abscess, Thrombocytopenia, Decreased circulating total IgM, Panniculitis, Decreased... OMIM:615758
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... ORPHA:1855
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Acute Lung Injury
Shock, Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentratio... ORPHA:178320
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Edema, Tachypnea, Dehydration, Leukopenia, 3-Methylglutaric aciduria, Hepatomegaly, Ketonu... ORPHA:20
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Peritonitis, Leukocytosis, Schi... ORPHA:90038
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... OMIM:616740
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Circulating immune complexes, Lymphadenitis, Abn... ORPHA:2035
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Dilated cardiomyopathy, Dehydration, Vomiting, Pulmonic stenosis ORPHA:79159
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Rayn... OMIM:615688
Kawasaki Disease
Edema, Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyngitis, Leukocytosis, Vascul... ORPHA:2331
Caffey Disease
Increased circulating antibody level ORPHA:1310
Cach Syndrome
Renal hypoplasia, Hepatosplenomegaly, Seizure, Optic neuritis, Vomiting, Dysphagia, Pancreatitis,... ORPHA:135
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Edema, Minimal change glomerulonephritis, Dilat... OMIM:618348
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ac... OMIM:251100
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Postinfectious Vasculitis
Gastrointestinal inflammation, Bacterial endocarditis, Recurrent streptococcus pneumoniae infecti... ORPHA:48435
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusiti... OMIM:615577
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Seizure, Organic aciduria, Decreased activity of NADPH oxidase, Aspiratio... ORPHA:431361
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Hypertension, Coronary artery atherosclerosis, Pancreatitis ORPHA:79084
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:245570
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... OMIM:618986
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Skin rash, Protei... ORPHA:761
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Seizure, Decreased circulating complement C3 concentration, Lymphocy... ORPHA:79087
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestat... ORPHA:65682
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Hydrops fetalis, Dehydration, Reticulocytopenia, 3-Methylglutaric aciduria,... OMIM:557000
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Seizure, Vomiting, Pancreatitis, Cerebral edema OMIM:248600
Pseudo-Torch Syndrome 3
Apnea, Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory i... OMIM:618886
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... ORPHA:93101
Thyrocerebroretinal Syndrome
Seizure, Nephritis, Myoclonus, Thrombocytopenia OMIM:274240
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phenomenon, C... ORPHA:536
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Edema, Secretory diarrhea, Bloody diar... ORPHA:544482
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Recurrent skin infections, Splenomegaly, Decreased circulating total IgM, Leukopenia... OMIM:620210
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Generalized-onset seizure, Elevated gamma-glutamyltransferase level, Retinal n... ORPHA:247691
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Vasculitis, Skin rash ORPHA:889
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dehydration, Hepat... OMIM:219700
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria... ORPHA:182050
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Vomiting, Cough... ORPHA:454836
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Renal salt wasting, Diarrhea, Dehydration, Pseudohypoaldosteron... OMIM:264350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus... OMIM:266100
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:470
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure ORPHA:60
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Dehydration, Weight loss, Nephrocalcinosis, Hypercalciuria, Vomiting, ... OMIM:143880
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Small for gestational age, Proteinuria, Unilater... ORPHA:2260
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Wild Type Attr Amyloidosis
Myocardial infarction, Pedal edema, Nephropathy, Orthostatic hypotension due to autonomic dysfunc... ORPHA:330001
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Microlissencephaly
Bilateral tonic-clonic seizure with generalized onset, Pneumonia ORPHA:1083
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi... ORPHA:2619
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... OMIM:602450
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ... ORPHA:589
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Eczema, Focal-onset seizure, Generalized non-motor (absence) seiz... OMIM:619157
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... OMIM:601457
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Diarrhea, Dehydration, Proximal tubulopathy, Vomiting, Myoclonus, Failure... OMIM:560000
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, C... ORPHA:397
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean platelet vol... OMIM:617718
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Chilblains, Splenomegaly, Vasculitis, Cardiomyopathy... OMIM:225750
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Congestive heart failure, Seizure, ... ORPHA:796
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Microvesicular hepatic st... ORPHA:275761
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Vascular granular osmiophilic material deposit... OMIM:162350
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Recurrent ... OMIM:615637
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting, Dehydration OMIM:610370
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... OMIM:618108
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane... OMIM:147060
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Hypertension, Seizure... ORPHA:251004
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ... ORPHA:275555
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... ORPHA:449427
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent upper respiratory tra... OMIM:209920
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Periorbital edema, Uveitis, Conjunctivitis, Vomiting, Recurrent pharyngitis,... ORPHA:32960
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Edema, Raynaud phenomeno... OMIM:192315
Focal Segmental Glomerulosclerosis 6
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... OMIM:614131
Omenn Syndrome
Hepatomegaly, Pneumonia, Edema, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyro... ORPHA:39041
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Seiz... OMIM:611182
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marr... OMIM:301078
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Hepatic failure, Recurrent pneumonia, Chronic diar... OMIM:615207
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ... ORPHA:699
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, P... ORPHA:292
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Large vessel vasculitis, Pedal edema, Hashimoto thyroiditis, Psoriasiform derm... ORPHA:49041
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Spl... OMIM:610539
Fabry Disease
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedem... OMIM:301500
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Asthma, Secretory diarrhea, Grade II vesicouretera... OMIM:619377
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Dehydration, Renal tubular dysfunction, Am... ORPHA:213
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasculitis, Ly... ORPHA:50918
Al Amyloidosis
Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal EKG, Hep... ORPHA:85443
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Nephritis, Hepat... OMIM:617303
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hepatomegaly, Glomerulopathy, Congestive heart failure, Splenomegaly, Abnormal... ORPHA:2348
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure OMIM:617709
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Nephrotic syndrome... ORPHA:1192
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Vomiting, Intracta... OMIM:619381
Nephrotic Syndrome, Type 9
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerula... OMIM:615573
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Edema, Leukocytosis, Diarrhea, Tachypnea, Dehydration, Weight loss, Hype... ORPHA:134
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Focal-onset seizure, Vascular granular osmiophilic material depos... OMIM:204300
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Polyhydramnios, Seizure, Gastroesophageal reflux, Myoclonus, Erratic myoclonus, ... OMIM:619971
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c... ORPHA:83471
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... OMIM:616730
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiratio... ORPHA:930
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropathy, Nausea, Decreased g... ORPHA:85450
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Dehydration, Methy... OMIM:251110
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, 3-Methylglutaric aciduria, Vomiting, Hepatomegaly, Cardiorespiratory arrest, C... ORPHA:26791
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Myocardial infarction, Methioninuria, Seizure, Stroke, Failure to thrive, Hepatic... OMIM:236200
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc... OMIM:613404
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Respiratory insufficiency, Dysphagia OMIM:618230
Lassa Fever
Increased circulating IgM level, Conjunctivitis ORPHA:99824
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Throm... OMIM:619302
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormality of the kidney, Raynaud phenomenon, Pulm... ORPHA:90291
Melioidosis
Shock, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, A... ORPHA:31202
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Hypersplenism, Osteoarthritis, Spl... ORPHA:77259
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Vomiting OMIM:618924
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Vomiting, Neutropen... ORPHA:73263
Wilson Disease
Acute hepatic failure, Edema, Osteoarthritis, Pedal edema, Aminoaciduria, Vomiting, Hepatic steat... OMIM:277900
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... ORPHA:69663
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Dehydration, Dysphagia, Failure to thrive OMIM:618958
Alport Syndrome
Mesangial hypercellularity, Vomiting, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C... ORPHA:63
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d... OMIM:615244
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Dehydration,... OMIM:616271
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hepatitis... ORPHA:584
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Hypertension,... ORPHA:84090
Congenital Atransferrinemia
Arthritis ORPHA:1195
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Recurrent pneumonia, Dehydration, Seizure, Failure to thrive OMIM:214150
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pelvic mass, Jaundice, Weight loss, Seizure, Increased circulating lact... ORPHA:370348
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash, Failure to thrive in infancy OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decrea... OMIM:619126
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Dyspnea, Typical absence... OMIM:620145
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Vomiting, Decreased beta-galac... OMIM:230350
Cholera
Tachycardia, Abnormality of renal excretion, Diarrhea, Tachypnea, Dehydration, Seizure, Hypovolem... ORPHA:173
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Facial edema, Periorbital edema, Fulminant hepatitis, Nonproducti... ORPHA:319213
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Edema, Mesangial hypercellularity, Podocyte foot proces... OMIM:617575
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Normochromic anemia, Foam cells, Decreased le... OMIM:245900
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Thrombocytope... OMIM:613011
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Status ep... OMIM:619701
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Autoimmunity, Megaloblastic anemia, Anem... OMIM:617780
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis OMIM:620137
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Diarrhea, Dehydration OMIM:223000
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... OMIM:620321
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, R... ORPHA:436271
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Bilateral tonic-clonic seizure, Abnormality of the upper urinary tr... ORPHA:99885
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Splenomegaly, Thrombocytopenia, Diarrhea, Oroticaciduria, Intraalveolar pho... OMIM:222700
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Jaun... OMIM:607765
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Nephrotic Syndrome, Type 2
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic... OMIM:600995
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Renal hypoplasia, Stage 5 chronic kidney disease, ... OMIM:614376
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Bilateral tonic-clonic seizure, Cardiac arrest, Apnea, Focal motor seizure, Vomitin... OMIM:618235
Marburg Hemorrhagic Fever
Nonproductive cough, Uveitis, Dehydration, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lympho... ORPHA:99826
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Bone Marrow Failure Syndrome 4
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... OMIM:618116
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Pancreatitis, Diarrhea, Seizure, Enuresis, Hepatic f... ORPHA:247585
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Increased cir... ORPHA:99827
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... OMIM:619693
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased liver function, Generalized myoclonic seizure, Acute hepatitis, Failure t... OMIM:238970
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Diarrhea, Hypertension, Increased urinary porp... OMIM:121300
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe... ORPHA:319218
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia, Vasculitis ORPHA:90026
Netherton Syndrome
Hypernatremic dehydration, Recurrent respiratory infections, Decreased circulating IgG level, Rec... OMIM:256500
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Nephrocalcinosis, Vomiting, Distal renal tubular acidosis, Failure t... OMIM:602722
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Elevated alkaline phosphatase of bone origin, Microscopic hemat... ORPHA:411634
Stevens-Johnson Syndrome
Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Abnormality of the uret... ORPHA:36426
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... OMIM:269200
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Macular edema, Tubulointerstitial nephriti... ORPHA:279914
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... ORPHA:507
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Myocl... OMIM:619301
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Congestive heart failure, Splenomegaly, Prominent veins on trunk... ORPHA:79083
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Xerostomia, He... ORPHA:227990
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Bilateral tonic-clonic seizure, S... OMIM:201475
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Dehydration, Vomiting, Hypotension, Failure to thrive, Decreased circulating ... OMIM:203400
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Bilateral tonic-clonic seizure, Increased level of gamma-... OMIM:271980
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Urethral stricture, Edema, Dehydration, Gastrointestinal inflammation, Rena... ORPHA:79404
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... OMIM:617904
Rheumatoid Arthritis
Joint swelling, Vasculitis, Rheumatoid arthritis, Weight loss OMIM:180300
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Coronary artery athe... OMIM:608600
Localized Scleroderma
Fasciitis, Abnormality of the kidney, Raynaud phenomenon, Vasculitis, Abnormality on pulmonary fu... ORPHA:90289
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly, Vomiting, Bilateral tonic-clonic seizure with focal ... ORPHA:158
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Bilateral tonic-clonic seizure, Eczema, Increased urinary sulfite level, Sulfit... OMIM:272300
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Primary Biliary Cholangitis
Increased circulating IgM level, Gastrointestinal inflammation, Hepatitis, Increased circulating ... ORPHA:186
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Respiratory distress OMIM:616341
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Porta... OMIM:613385
Congenital Disorder Of Glycosylation, Type Iaa
Pseudobulbar paralysis, Failure to thrive, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Recurrent respiratory infections, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure,... OMIM:618497
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,... ORPHA:391487
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Seizure, Pneumonia ORPHA:85179
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Hydrops fetalis, Dehydration, Neu... ORPHA:79282
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Vomiting, Myoclonus, Status epilepticus, Failure to thrive OMIM:609056
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Mahvash Disease
Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia OMIM:619290
Cednik Syndrome
Proteinuria, Congestive heart failure, Seizure, Nephrotic syndrome, Stroke ORPHA:66631
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Seizure, Nephrotic syndrome, Focal segmen... OMIM:618349
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa... ORPHA:79259
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... ORPHA:93672
Secondary Short Bowel Syndrome
Diarrhea, Enterocolitis, Dehydration, Weight loss, Cholestasis, Central hypothyroidism, Vomiting,... ORPHA:95427
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity OMIM:240900
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Melas
Wolff-Parkinson-White syndrome, Vomiting, Nephropathy, Hypothyroidism, Hypoparathyroidism, Dilate... ORPHA:550
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc... ORPHA:858
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Dehydration, Gastroesophageal reflux, Failure to thrive OMIM:251120
Familial Cold Urticaria
Arthritis, Conjunctivitis, Dehydration, Hyperhidrosis ORPHA:47045
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Increased he... ORPHA:369
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Edema, Status epilepticus OMIM:617507
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dyspnea, Diarrhea, Elevated urinary dopamine level, Noctur... ORPHA:230
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Hydro... OMIM:269920
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:208441
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
Galactosemia I
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Di... OMIM:230400
Buerger Disease
Vasculitis, Hyperhidrosis ORPHA:36258
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Diarrhea, Vasculitis, Skin rash OMIM:601979
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased methionine synthase activity, Patent ductus arteriosus, Tachypnea, Methylmalonic acidur... OMIM:614857
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu... OMIM:613490
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipi... OMIM:220110
Lamellar Ichthyosis
Recurrent respiratory infections, Renal insufficiency, Dehydration, Erythroderma, Chronic otitis ... ORPHA:313
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Increased circulating IgE level, Inc... ORPHA:449432
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Small for gestational age, Nonimmune hydrops fetalis, Ext... OMIM:617021
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Cinca Syndrome
Skin rash, Eosinophilia, Lymphedema, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, ... OMIM:607115
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Enteric Anendocrinosis
Portal hypertension, Diarrhea, Dehydration, Cholestatic liver disease, Vomiting ORPHA:83620
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:616187
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Neonatal respiratory distress, Congenital nephrotic syndrome, Small ... OMIM:256300
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Generalized-onset seizure, Proteinuria, Edema, Nephrotic syn... OMIM:254900
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Seizure, Nephrotic syndrome, ... OMIM:618347
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Seizur... OMIM:614650
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Small for gestational age, Proteinuria, Edema, Microscopic hematur... ORPHA:97362
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Proteinuria, Decreased circulating complement... ORPHA:90060
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Cln3 Disease
Acne, Bilateral tonic-clonic seizure, Focal-onset seizure, Vacuolated lymphocytes, Myoclonic seiz... ORPHA:228346
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Oligosaccharidur... ORPHA:365
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Inflammation of the large intestine, Elevated gamma-glutamyltransferase... OMIM:614576
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma... ORPHA:1046
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Dehydration, Elevated serum 11-deoxycortisol, Vomiting, Hypotension, Ren... ORPHA:556030
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Renal salt wasting, Dehydration, Failure to thrive, Decreased circulatin... OMIM:610600
Congenital Disorder Of Glycosylation, Type Ia
Generalized-onset seizure, Edema, Renal cyst, Hepatic fibrosis, Vomiting, Decreased circulating I... OMIM:212065
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction, Respiratory tract infection, Dyspnea, Wheezing, Crackles, Produc... ORPHA:60033
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Vacuolated lymphocytes, Concentric hypertrophic cardiomyopathy, S... OMIM:204200
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Congestive heart failure, Peritonitis, M... ORPHA:139507
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Seizure, Nephrotic syndrome, Focal segmental ... OMIM:607426
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Pulmonary edema, Decreased mean corpuscular hemo... ORPHA:244242
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Renal insuff... ORPHA:537
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Increas... ORPHA:79078
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Myoclonus, Aspirat... OMIM:619057
Scorpion Envenomation
Bundle branch block, Edema, Tachypnea, Hyperhidrosis, Vomiting, Prominent U wave, Hemifacial spas... ORPHA:466677
Rift Valley Fever
Skin rash, Hepatitis, Uveitis, Anemia, Increased circulating IgG level, Increased circulating IgM... ORPHA:319251
Stxbp1-Related Encephalopathy
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s... ORPHA:599373
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:608636
Harlequin Ichthyosis
Recurrent respiratory infections, Sudden cardiac death, Dehydration, Respiratory insufficiency, E... ORPHA:457
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Renal i... OMIM:203800
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Nephrolithiasis, Papillary renal cell carcinoma, ... OMIM:145001
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... ORPHA:2298
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Stroke, Bilateral tonic-clonic seizure OMIM:611556
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Vomiting, Decreased liver function, Dehydration OMIM:602199
Wells Syndrome
Vasculitis, Eosinophilia, Edema ORPHA:901
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... ORPHA:85435
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Developmental And Epileptic Encephalopathy 99
Central apnea, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizur... OMIM:619606
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Neuroleptic Malignant Syndrome
Urinary incontinence, Pulmonary embolism, Dehydration, Hyperhidrosis, Vomiting, Aspiration pneumo... ORPHA:94093
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... ORPHA:730
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weak... ORPHA:18
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Edem... ORPHA:793
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Bilateral tonic-clonic seizure, Apnea, Infantile spasms, Tonic seizure, Glu... OMIM:600721
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Vomiting, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotran... OMIM:614921
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-m... OMIM:607616
Cogan Syndrome
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... ORPHA:1467
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Elevated circula... OMIM:214900
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Transaldolase Deficiency
Abnormality of the kidney, Edema, Thrombocytopenia, Hydrops fetalis, Abnormal respiratory system ... ORPHA:101028
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age,... ORPHA:263455
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Constip... ORPHA:225
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Aortopulmonary collateral arteries, Bilateral to... ORPHA:293181
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N... OMIM:232200
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Lymphedema, Abnormal neutrophil count, Splenomega... ORPHA:3226
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple... ORPHA:77260
Babesiosis
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Myocardial infarction, Congestive heart fail... ORPHA:108
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic diarrhea, Chronic kidney disease, C... ORPHA:85445
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Yellow Fever
Increased circulating interleukin 6 concentration, Anuria, Vomiting, Nausea, Internal hemorrhage,... ORPHA:99829
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic ... ORPHA:440713
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... OMIM:600802
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Dyspnea, Hydrops fetalis, Pedal edema, Seizure, Nephropathy, Ascites ORPHA:87876
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Bilateral tonic-clonic seizure OMIM:301076
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... ORPHA:330050
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Anemia, Panniculitis, ... OMIM:608068
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Emphysema, Dyspnea, Br... OMIM:612387
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis, Hypohidrosis ORPHA:363523
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... ORPHA:565612
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Pre... OMIM:615947
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
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
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Vomiting,... OMIM:601678
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Proteinuria, Me... ORPHA:35858
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To... OMIM:619881
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss, Seizure, Aspiration pneumonia, Cough, Abnormal posturing ORPHA:216866
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... OMIM:617976
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu... ORPHA:363549
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Nephropathy, Hepatomegaly, Hemolytic a... ORPHA:809
Galloway-Mowat Syndrome 5
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r... OMIM:617731
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophi... OMIM:169400
Gaucher Disease
Osteoarthritis, Hydrops fetalis, Cherry red spot of the macula, Hepatomegaly, Hepatitis, Respirat... ORPHA:355
Relapsing Polychondritis
Uveitis, Large vessel vasculitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Atelectasis,... ORPHA:728
Seizures, Benign Familial Infantile, 3
Apnea, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal imp... OMIM:607745
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Glucose-Galactose Malabsorption
Renal insufficiency, Diarrhea, Nephrolithiasis, Dehydration, Weight loss, Hematuria, Vomiting, Fa... ORPHA:35710
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Re... ORPHA:90340
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Intellectual Developmental Disorder, Autosomal Dominant 45
Skin rash, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Heart murmur,... OMIM:617600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Congenital Tufting Enteropathy
Chronic diarrhea, Secretory diarrhea, Dehydration, Weight loss, Arthritis, Cholestatic liver dise... ORPHA:92050
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, Fetal pyelectasis, Apneic episodes in infanc... OMIM:301058
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Hypertonic dehydration, Seizure, Constipation, Vomiting, Failure to thrive OMIM:125800
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Congestive heart failure, Spleno... ORPHA:163596
Ddost-Cdg
Elevated hepatic transaminase, Nephrotic range proteinuria, Seizure, Gastroesophageal reflux, Con... ORPHA:300536
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ... OMIM:610725
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypertonic dehydration, Seizure, Constipation, Vomiting, Failure to thrive OMIM:304800
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st... OMIM:307200
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Cheilitis, Hepat... ORPHA:1334
Colchicine Poisoning
Respiratory distress, Renal insufficiency, Myocarditis, Congestive heart failure, Leukocytosis, H... ORPHA:31824
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Listeriosis
Respiratory distress, Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Vomiting, Inf... ORPHA:533
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615362
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol le... ORPHA:199299
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Nonproductive cough, Leukocytosis, Atelectasis, Hypereosinophilia, Atopic dermatitis, D... ORPHA:2902
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Functional abnormali... ORPHA:223
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Tachycardia, Bilateral tonic-clonic seizur... ORPHA:79264
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Edema, Vomitin... ORPHA:90051
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas OMIM:134610
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Protracted diarrhea OMIM:251850
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:611603
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti... ORPHA:97244
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure, Dysphagia OMIM:617862
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody di... OMIM:614602
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Abnormal respiratory syste... ORPHA:561854
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Hyperhidros... ORPHA:83317
Glucose/Galactose Malabsorption
Chronic diarrhea, Failure to thrive, Hypertonic dehydration, Glycosuria OMIM:606824
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl... ORPHA:412
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Seizure, Aminoaciduria, Neutropenia, De... OMIM:603585
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Dehydration, Renal tubular dysfuncti... ORPHA:69076
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria, Bilateral tonic-clonic seizure OMIM:249650
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Splenomegaly, Anemia, Arthritis, Panniculitis, Increased circulat... OMIM:617591
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Vomiting, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, H... OMIM:619525
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... ORPHA:221
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Seizure OMIM:608540
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Elevat... OMIM:257200
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Pericardial effusion, ... ORPHA:77261
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Weight los... ORPHA:545
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... OMIM:219800
Sarcosinemia
Hypersarcosinuria, Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Pulmonic stenosis ORPHA:3129
Whipple Disease
Myositis, Myocardial infarction, Uveitis, Pedal edema, Cough, Hypothyroidism, Infectious encephal... ORPHA:3452
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Decreased circulating antibody level, Nephrotic syndrome... OMIM:242900
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... ORPHA:97287
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Seizure, Dysphagia, Hypothyroidism, Pancreatitis ORPHA:412057
Alveolar Echinococcosis
Liver abscess, Cholangitis, Pedal edema, Renal cyst, Vomiting, Cough, Portal hypertension, Abnorm... ORPHA:284
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... ORPHA:208447
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Vomiting, Renal potassium wast... OMIM:241200
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Whim Syndrome
Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenit... ORPHA:51636
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Apnea, Hypospadias, Bronchiectasis, Dysphagia, Respiratory insufficien... OMIM:618253
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis OMIM:260570
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Clonic seizure, Respiratory insufficiency, ... OMIM:617290
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Edema, Reduced natural kill... OMIM:603553
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Dehydration, Vomiting, Failure t... OMIM:615453
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure, Urinary incontinence ORPHA:329329
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... ORPHA:1414
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Seizure, Bronchiectasis, Decreased body weight ORPHA:477814
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Diarrhea, Dehydration, Weight loss, Hematochezia ORPHA:103910
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Elevated g... OMIM:278000
Familial Chylomicronemia Syndrome
Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Jaundice, H... ORPHA:444490
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re... OMIM:601495
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Small for gestational age, Bilateral tonic-clonic seizure, Keratitis, Oligohydramnios ORPHA:453510
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Failure to thrive, Bilateral tonic-clonic seizure OMIM:618237
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Congestive heart failure, Stroke-... OMIM:540000
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Apnea, Respiratory insufficiency, Seizure, Gastroesophageal reflux ORPHA:209370
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... ORPHA:439232
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Increased circulating i... ORPHA:563
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Igg4-Related Ophthalmic Disease
Sinusitis, Palpebral edema, Cholangitis, Eosinophilia, Abnormality of the kidney, Keratitis, Orch... ORPHA:449563
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Dk1-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Bilateral t... ORPHA:91131
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Vomiting, Elevated g... OMIM:614480
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Adrenocorticotropin defic... ORPHA:199296
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Renal salt wasting, Primary adrenal insufficiency, Dehydrat... OMIM:300200
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Focal clonic seizure, Neonatal seizure, Nausea ORPHA:140927
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Edema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morpho... ORPHA:2584
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... ORPHA:167
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Arthritis, Joint swell... OMIM:228000
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:604317
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy, Arthritis, Infec... ORPHA:42642
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Mirizzi Syndrome
Dark urine, Elevated hepatic transaminase, Tachycardia, Nausea, Pancreatitis, Jaundice, Elevated ... ORPHA:521219
D-Glyceric Aciduria
Neonatal respiratory distress, Bilateral tonic-clonic seizure, Patent ductus arteriosus, Reduced ... OMIM:220120
Alternating Hemiplegia Of Childhood
Respiratory distress, Bilateral tonic-clonic seizure, Apnea, Cardiac conduction abnormality, Oral... ORPHA:2131
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splen... OMIM:616050
Mccune-Albright Syndrome
Pancytopenia, Hyperthyroidism, Hyperphosphaturia, Elevated circulating growth hormone concentrati... ORPHA:562
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Abn... ORPHA:2204
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy... ORPHA:324
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles... OMIM:233450
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Myoclonus, Decreased beta-glucocerebr... OMIM:231000
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Dehydration, Pseudohypoaldosteronism, Hyperaldosteronism, Vomiting, Hypotension, Failur... OMIM:177735
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Proteinuria, Chron... ORPHA:488627
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Chro... OMIM:613489
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:301020
American Trypanosomiasis
Hepatomegaly, Skin rash, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenom... ORPHA:3386
Castleman Disease
Intestinal obstruction, Generalized lymphadenopathy, Abdominal mass, Renal insufficiency, Increas... ORPHA:160
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarct... OMIM:274150
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Diarrh... OMIM:615387
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Small for gestational age, Hypochromic microcytic anemia, Seizure, Vomiting,... OMIM:619147
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Chronic pulmonary obstru... ORPHA:411703
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Enuresis nocturna, Otitis m... ORPHA:420741
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Small for gestational age, Bilateral tonic-clonic seizure, Infanti... ORPHA:79243
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Hepatic steatosis, Hepatomegaly, Abnormal atrioventricular conductio... ORPHA:280365
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Predominantly lowe... ORPHA:33001
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... OMIM:301045
Leptospirosis
Respiratory distress, First degree atrioventricular block, Uveitis, Cough, Hepatomegaly, Cellular... ORPHA:509
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Lymphedema, Biliary tract neoplasm, ... ORPHA:662
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne... ORPHA:36238
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa... OMIM:617106
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosis, Myoclonic seizure... OMIM:619835
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Urinary incontinence, Cachexia, Dysphagia OMIM:618093
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Congestive heart failure, Dil... OMIM:615895
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Abnormality of complement system, Abnormal cardiov... ORPHA:79086
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... ORPHA:79126
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Spider hemangioma, Chronic pancre... OMIM:232240
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Severe Canavan Disease
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Seizure, Gastroesophageal reflux, Vomi... ORPHA:314911
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
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, C... OMIM:242700
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Failure to thrive in inf... OMIM:610377
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Pneumonia, Cerebral edema OMIM:608033
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease... OMIM:613845
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Steatorrh... OMIM:618268
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Ventricular... OMIM:601005
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... OMIM:612301
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Seizure,... ORPHA:261222
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia/aplasia, Thrombocytopenia, Pa... ORPHA:2123
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... ORPHA:449280
Lead Poisoning
Small for gestational age, Skin rash, Asthma, Chronic kidney disease, Imbalanced hemoglobin synth... ORPHA:330015
Igg4-Related Thyroid Disease
Thyroiditis, Sclerosing cholangitis, Hashimoto thyroiditis, Increased circulating IgG4 level ORPHA:64744
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Hypertens... OMIM:610205
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Renal insufficiency, Exercise-induced myoglobinuria, Seizure, ... OMIM:300653
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hepa... ORPHA:398124
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hypertens... OMIM:612925
Hereditary Coproporphyria
Dark urine, Tachycardia, Respiratory insufficiency, Porphyrinuria, Seizure, Increased urinary por... ORPHA:79273
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneumoni... OMIM:150550
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Adenine Phosphoribosyltransferase Deficiency
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Atrial fibrillation, ... ORPHA:976
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Small for gestational age, Bilateral tonic-clonic seizure, Focal-onset seizure, ... ORPHA:289266
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... OMIM:613470
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Abno... ORPHA:90117
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Patent ductus arteriosus, Jaundice, Thrombocytopenia, Seiz... ORPHA:290
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Tachypnea, Hepatitis, Seizure, Decre... ORPHA:415
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... OMIM:619609
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis OMIM:619462
Seckel Syndrome 10
Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Elev... OMIM:617253
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... ORPHA:333
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Sézary Syndrome
Hepatomegaly, Edema, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lym... ORPHA:3162
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hepatic steatosis, Hepatitis, Obesity, Cholestasis, Acute hepatic st... ORPHA:209902
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Bilateral tonic-clonic seizure, Recurrent myoglobinuria, Cerebral hemorr... OMIM:620300
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Dehydration, Abnormal tubulointerstitial mo... ORPHA:411629
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Anemia ORPHA:2668
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Failure to thrive, Bilateral tonic-clonic seizure, Decreased body weight OMIM:614559
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Primary hyperparathyroidis... OMIM:145981
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Increased circulating cortisol level, Truncal obesity, Primary hypercortisolism, Pa... OMIM:610475
Glycogen Storage Disease Iv
Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ... OMIM:232500
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Diarrhea, Hypovolemia, Bicarbonaturia, Dehydration, Bicarbonate-wasting renal ... ORPHA:47159
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Joint swe... ORPHA:85414
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Decreased urinary potassium, Hyperhidrosis, Tubuloint... ORPHA:358
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Myeli... ORPHA:297
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Myoglobinuria, Red-brown urine, Stage 5 chronic kidn... ORPHA:157
Bartter Syndrome Type 4
Small for gestational age, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impai... ORPHA:89938
Acute Liver Failure
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Hyperventil... ORPHA:90062
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Nephroca... OMIM:617105
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia OMIM:314300
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Bilateral tonic-clonic seizure, Urinary incontinence, Redu... OMIM:268800
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac... OMIM:224120
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Congenital Short Bowel Syndrome
Projectile vomiting, Chronic diarrhea, Dehydration, Vomiting, Steatorrhea, Failure to thrive OMIM:615237
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure, Urinary incontinence ORPHA:100988
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Hyperhidrosis, Weight loss, Lym... ORPHA:391
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Weight loss, Neopla... ORPHA:69077
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Decreased circul... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Decreased circul... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Decreased circul... OMIM:612926
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Fulminant hepatitis, Jaundice, Hepatic failu... OMIM:618549
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... ORPHA:79301
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Leukopenia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regu... ORPHA:505248
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red... OMIM:266200
Rosaï-Dorfman Disease
Seizure, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... OMIM:609015
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... ORPHA:382
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Eosinophilic Gastroenteritis
Allergic rhinitis, Edema, Eosinophilia, Leukocytosis, Diarrhea, Asthma, Atopic dermatitis, Dyspha... ORPHA:2070
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Exe... OMIM:232800
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodonti... ORPHA:534
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Respir... ORPHA:97282
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Visceral Myopathy 1
Gastroparesis, Polyhydramnios, Diarrhea, Megacystis, Hydronephrosis, Vomiting, Constipation, Urin... OMIM:155310
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis OMIM:238600
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Thrombocytopenia, Dyspnea, Prolonged QTc interval, Hematuria,... ORPHA:231111
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Cardiome... ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:614582
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Edema, Pulmonary embolism, Diarrhea, Recurrent lower respir... OMIM:226300
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Increased circulating lactat... ORPHA:158057
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Neutrophilia, Abnormality of the kidney, Abnormalit... ORPHA:54251
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis OMIM:145980
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Myoglobinuria, Red-brown urine, Cardiomyopathy, Seiz... ORPHA:228305
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Reduced beta-hexosaminidase activity, Myoclonic seizure, Hepatosp... ORPHA:309155
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Thrombocytopenia, Anemia, Seizure, Stridor, Gastroesoph... OMIM:230900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Myocardial... ORPHA:457240
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... OMIM:610333
Lcat Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Premature cor... ORPHA:650
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Brain Small Vessel Disease 2
Intracranial hemorrhage, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... ORPHA:263516
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Failure to... ORPHA:264675
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... ORPHA:319552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Weight loss ORPHA:86893
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Congen... OMIM:610199
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... OMIM:615862
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Cervical lymphadenopathy, Leukocytosis, Oliguria, Ce... ORPHA:514
Acute Disseminated Encephalomyelitis
Viral hepatitis, Respiratory failure requiring assisted ventilation, Herpes simplex encephalitis,... ORPHA:83597
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Vici Syndrome
Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutropenia, Decreased circulating IgG... OMIM:242840
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Agel Amyloidosis
Proteinuria, Edema, Respiratory tract infection, Xerostomia, Stage 5 chronic kidney disease, Card... ORPHA:85448
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro... OMIM:208500
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn... ORPHA:228119
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Generalized non-motor (a... OMIM:610293
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... ORPHA:90308
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hypoglyc... OMIM:231530
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, T... OMIM:620233
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal impaired awareness seizure, Hy... OMIM:613970
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Chronic kidney disease, Elevated c... OMIM:300555
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Hypersensitivity pneumo... ORPHA:133
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Medi... ORPHA:79128
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Patent ductus arteriosus, Mi... OMIM:606003
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Neonatal asphyxia, Dehydra... ORPHA:90791
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... ORPHA:485350
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Patent ductus arteriosus, Chro... OMIM:617053
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... OMIM:167800
Dystonia 31
Abnormal posturing, Dysphagia OMIM:619565
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure, Bradycardia OMIM:609924
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen... OMIM:611881
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Urinary incontinence, Obesity, Seizure, Generalized myoclonic sei... ORPHA:464282
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... OMIM:613807
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... OMIM:613855
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... OMIM:602088
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Diarrh... OMIM:240300
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Gout, Renal cyst, Anemia, Focal segmental glomerulosclerosis, Neutropenia... OMIM:617056
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Seizure... OMIM:619167
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu... OMIM:120330
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Episodic vomiting, Seizure, Myoclonus, Febrile seizure (within th... OMIM:612736
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent... OMIM:252920
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly... OMIM:618913
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatomegaly, Seizure, Acholic stools, ... ORPHA:30391
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Pedal edema, Cardiorespiratory arrest... ORPHA:228116
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:615476
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Megaloblastic anemia, H... OMIM:277400
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Arthritis, Cardiomy... OMIM:602390
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa... ORPHA:91500
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Multifocal seizures, Bilatera... ORPHA:480864
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Sudden cardiac death, Pericardial effusion, Congestive heart fail... ORPHA:73224
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Hypophosphatasia, Infantile
Recurrent respiratory infections, Elevated urine pyrophosphate, Apnea, Polyhydramnios, Hypercalci... OMIM:241500
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypospadias, Palpebral edema, Bilateral tonic-clonic seizure, Gastroesophageal reflux, Esophagitis ORPHA:79350
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Sporadic Infantile Bilateral Striatal Necrosis
Urinary incontinence, Focal-onset seizure, Recurrent upper respiratory tract infections, Atypical... ORPHA:225147
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulatin... OMIM:618165
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Cerebral hemorrhage, Nausea, Elevated urinary norepinephrine level, Congestive heart... ORPHA:276621
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Renal insufficiency, Polyuria, Bronchiectasis, Stage 5 chronic ... OMIM:619468
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:363558
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,... OMIM:604416
Sea-Blue Histiocytosis
Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharit... ORPHA:158029
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Dend Syndrome
Seizure, Vomiting, Elevated hemoglobin A1c, Dehydration ORPHA:79134
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Bilateral tonic-clonic seizure, Hypospadias, F... OMIM:618316
Microvillus Inclusion Disease
Diarrhea, Hypovolemia, Dehydration, Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Pyruvate Carboxylase Deficiency
Hepatomegaly, Infantile spasms, Generalized clonic seizure, Tachypnea, Lacticaciduria, Dehydratio... ORPHA:3008
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Gastroesophageal reflux, Bilateral tonic-clonic seizure OMIM:615031
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Polyhydramnios, Thrombocytopeni... OMIM:603467
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Hypoperistalsis, ... ORPHA:1018
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos... OMIM:300908
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting... ORPHA:31204
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu... ORPHA:79332
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
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
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Anasarca, Cryoglobulinemia, Abnorma... OMIM:123550
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Inflammatory abnormality of the skin, Tachycardia, Small for... ORPHA:26793
Wolman Disease
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Adrenal insufficie... ORPHA:75233
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Shortened QT interval, Primary h... ORPHA:143
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Urinary incontinence, Fo... ORPHA:268947
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure OMIM:618090
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Bilateral tonic-clonic seizure, Infantile spas... ORPHA:544503
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension... ORPHA:369929
Vertical Talus, Congenital
Arthritis OMIM:192950
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr... OMIM:278300
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Hepato... ORPHA:525731
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Seizure, Leukopenia, Hem... OMIM:267700
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat... OMIM:613313
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:226750
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Seizure, F... OMIM:615438
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Nephrolithiasis OMIM:619827
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Fetal ascites, Polyhydramnios, Bone-... OMIM:607625
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Chr... OMIM:619338
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Hyperhidros... ORPHA:99868
Eosinophilic Fasciitis
Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Arthritis,... ORPHA:3165
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni... OMIM:617810
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Weight loss, Chronic calcifying pancreatitis, Vomiti... ORPHA:103918
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level, Infectious e... ORPHA:79139
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph... ORPHA:2032
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Congestive he... ORPHA:67
Caroli Disease
Liver abscess, Cholangitis, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransferase level,... ORPHA:53035
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Anhidrosis, Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic oti... ORPHA:169090
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial... OMIM:259900
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Sinusitis, Bronchiectasis, Acute lymphoblastic leuk... OMIM:208900
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... ORPHA:447
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Generalized-onset seizure, Focal-onset seizure, Leukocytosis, Thrombocytopen... ORPHA:83601
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Asthma, Obesity, Micropenis, Pancreatitis OMIM:619471
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Coarctation of a... OMIM:617729
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Leiomyomatosis, Diffuse, With Alport Syndrome
Tracheobronchial leiomyomatosis, Renal insufficiency, Glomerular basement membrane lamellation, P... OMIM:308940
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Adrenoco... OMIM:609981
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... ORPHA:221139
Lissencephaly Due To Lis1 Mutation
Dilation of Virchow-Robin spaces, Polyhydramnios, Infantile spasms, Focal motor seizure, Seizure,... ORPHA:95232
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Abnormal renal tubule morphology, Multiple glomerular cysts, Bilateral tonic-clonic... ORPHA:255210
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Dilated cardiomyopathy, Bilateral tonic-clonic seizure OMIM:618120
Nail-Patella Syndrome
Renal insufficiency, Coronary artery dissection, Abnormality of the kidney, Proteinuria, Thickene... ORPHA:2614
Glut1 Deficiency Syndrome 2
Splenomegaly, Seizure, Hemolytic anemia, Reticulocytosis OMIM:612126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hypertension, Hematuria, Microangiopathic... OMIM:612924
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Asthma, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Decreased ci... OMIM:619750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Usual interstitial... OMIM:614742
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... ORPHA:405
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Bloom Syndrome
Bronchitis, Uveitis, Gastroesophageal reflux, Otitis media, Decreased circulating IgG level, Decr... ORPHA:125
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Diarrhea, Uveitis,... ORPHA:90321
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Thoracic aortic aneurysm, Patent duct... OMIM:619351
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Seizure, Focal ... OMIM:619854
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Elevated urinary catecholamine level, Diarrhea, Elevated urinary dopamine level, ... OMIM:256700
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Edema, Splenomegaly, Lymphadenopathy, Pannic... OMIM:619183
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Renal Nutcracker Syndrome
Tachycardia, Orthostatic hypotension, Proteinuria, Vulval varicose vein, Weight loss, Hematuria, ... ORPHA:71273
Tyrosinemia, Type I
Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hepatomegaly, A... OMIM:276700
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Urinary incontinence, Polyhydramnios, Pericardial effusion, Myocl... OMIM:620070
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa... OMIM:181000
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal... ORPHA:30
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Ga... OMIM:620292
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Edema, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent upper respira... OMIM:252900
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Di... ORPHA:99745
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Cinca Syndrome
Hepatomegaly, Edema, Abnormality of neutrophils, Retrobulbar optic neuritis, Splenomegaly, Leukoc... ORPHA:1451
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Neonatal respiratory distress, Respiratory tract infection, Atele... ORPHA:244
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Bilateral tonic-clonic seizure, Focal-onse... ORPHA:168491
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Dysphagia, Infantile spasms, Focal impaired awareness seizure OMIM:617493
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Gm1 Gangliosidosis
Recurrent respiratory infections, Bilateral tonic-clonic seizure with generalized onset, Congesti... ORPHA:354
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Hydrops fetalis, Intracrania... ORPHA:85212
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... OMIM:612541
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... OMIM:227810
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... ORPHA:83469
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Megaloblastic anemia, Generalized non-motor (abs... ORPHA:79351
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Leukocytosis, Jaundice, Recurrent pancreat... ORPHA:676
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Lymphedema, Splenomegaly, Diarrhea, Seizure, Anemia ORPHA:2930
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Seizure, 3-Methylglut... OMIM:246450
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... OMIM:166300
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ... ORPHA:501
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Shortened QT interval, Primary h... ORPHA:99880
Sandifer Syndrome
Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing, Episodic vomiting, Anemia ORPHA:71272
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:607143
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure, Fetal ascites, Polyh... OMIM:261515
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Or... ORPHA:556
Mogs-Cdg
Respiratory distress, Hepatomegaly, Generalized edema, Hypoventilation, Apnea, Polyhydramnios, Ed... ORPHA:79330
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p... ORPHA:284426
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Bloody diarrhea,... ORPHA:436252
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... OMIM:618917
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... OMIM:603903
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure, Vascular granular osmiophilic material deposition, Arterioscleros... ORPHA:199354
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hypotension, Dehydration OMIM:620125
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m... ORPHA:2314
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... OMIM:615468
Senior-Loken Syndrome 9
Obesity, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hepatic fibro... OMIM:616629
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Edema, Diarrhea, Hepatic failure, Renal cyst, Proximal tubulopathy, Hepatic fibrosi... OMIM:602579
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... ORPHA:168558
Porphyria Variegata
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... ORPHA:79473
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduri... ORPHA:71212
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... OMIM:216360
Biotinidase Deficiency
Respiratory distress, Skin rash, Bilateral tonic-clonic seizure, Infantile spasms, Apnea, Focal m... ORPHA:79241
Cirrhosis, Familial
Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Copper Deficiency, Familial Benign
Seizure, Failure to thrive, Anemia, Seborrheic dermatitis OMIM:121270
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Cerebral hemorrhage, Nausea, Elevated urinary norepinephrine level, Congestive heart... ORPHA:29072
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... ORPHA:289548
Bloom Syndrome
Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circulating total IgM, Leukemia, D... OMIM:210900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Bilateral tonic-clonic seizure, Hydroureter, Large for gestational age, Patent... OMIM:615398
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Complement Factor B Deficiency
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration OMIM:615561
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... OMIM:615518
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... OMIM:619913
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Seizure, Resp... ORPHA:330021
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransferase level, Cough, Hypot... OMIM:615486
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Bilateral tonic-clonic seizure, Apnea, Splenomega... OMIM:617050
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis ORPHA:93476
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Decreased iduronate sulfatase level, Heparan sulfate excretion in urine, Congestive... OMIM:309900
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Polyhydramnios, Proteinuria, Cachexia ORPHA:2774
Sarcoidosis
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ... ORPHA:797
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Thrombocytopenia, Seizure, Elevated circ... OMIM:259700
Lichen Planopilaris
Hepatitis ORPHA:525
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Huntington Disease-Like 1
Seizure, Abnormal posturing, Weight loss ORPHA:157941
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Chronic constipation, Status ... OMIM:617166
Genetic Recurrent Myoglobinuria
Dark urine, Elevated hepatic transaminase, Myositis, Renal insufficiency, Recurrent myoglobinuria... ORPHA:99845
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Developmental And Epileptic Encephalopathy 61
Seizure, Apnea, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233710
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Pneumonia, Oligosacchariduria, Hepatosplenomegaly ORPHA:309288
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art... OMIM:251290
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Jaundice, ... ORPHA:91547
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Bilateral tonic-clonic se... ORPHA:496641
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, D... OMIM:253260
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... ORPHA:811
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Abnormal circulating enzyme concentration or activity, Bilateral tonic-clonic seizure, Apnea, Foc... ORPHA:395
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Eczema, Edema, Cholelithiasis, Hepatic failure OMIM:177000
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Fetal ascites, Bone-marrow foam cel... OMIM:257220
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Vomiting, Dehydration OMIM:620126
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Peripheral arter... ORPHA:71493
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Bilateral tonic-clonic seizure, Apnea, Hypospadias,... OMIM:252010
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stomatitis, St... OMIM:212750
Lesch-Nyhan Syndrome
Anemia, Renal insufficiency, Hematuria, Gout ORPHA:510
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Large for gestationa... OMIM:616026
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Pancreatic cysts, Splenomegaly, Abnormality... ORPHA:464329
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Pulmonary hypoplasia, Focal impaired awareness seizure OMIM:617468
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... OMIM:259710
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Generalized-onset seizure, Elevated circulating aspartate amin... OMIM:300842
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Increased circulating gonadotropin level, Hyper... ORPHA:347
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Bilateral tonic-clonic seizure, Low alkaline phosphatase, Patent ductus arter... ORPHA:369837
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Arteriosclerosis, Cirrhosis, Hepatic failure ORPHA:75234
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly, Cardiomyopathy, Status epilepticus, Failure to thrive OMIM:619046
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Res... OMIM:618170
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hyp... OMIM:607944
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Diar... OMIM:249100
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal r... ORPHA:95430
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent upper respira... OMIM:252930
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233690
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Seizure, Urinary glycosaminoglycan excretion... ORPHA:79255
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Sitosterolemia 1
Reticulocytosis, Carotid artery stenosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthri... OMIM:210250
Hennekam Syndrome
Lymphopenia, Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Ec... ORPHA:2136
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Lymphadenopathy, Oligo... ORPHA:2483
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Weig... ORPHA:679
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Photosensitive myoclonic sei... OMIM:209010
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Anemia, Elevated hepatic transaminase ORPHA:75563
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Dilated c... ORPHA:79408
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Elevated circulating alkaline phosphatase concentration, Bilateral tonic-clonic seizure,... OMIM:615716
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Epileptic spasm, Bilateral tonic-clonic seizure with gener... ORPHA:314655
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Glycerol Kinase Deficiency
Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Seizure, Adrenal ins... OMIM:307030
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Flexion contract... ORPHA:85408
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Seizure, Interstitial pneumonitis... ORPHA:454831
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B... OMIM:617092
Multiple Endocrine Neoplasia Type 1
Dehydration, Vomiting, Gastroesophageal reflux, Nausea, Thymoma, Increased circulating cortisol l... ORPHA:652
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Poikiloderma With Neutropenia
Skin rash, Edema, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Telan... OMIM:604173
Familial Benign Copper Deficiency
Seizure, Acne, Anemia ORPHA:1551
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly... OMIM:235200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli... OMIM:614162
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Gastroesophageal reflux, Bilateral tonic-clonic seizure ORPHA:457205
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Thrombocytopenia, Seizure, Aminoaciduria, Bone marrow hypoc... OMIM:614520
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Small for gestational age, Eczema, Bilateral tonic-clonic seizure, Apnea, Seizure, Ch... OMIM:617799
Hyperekplexia 3
Bilateral tonic-clonic seizure, Apnea, Syncope, Gastroesophageal reflux, Myoclonus, Respiratory a... OMIM:614618
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence... ORPHA:64
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Congenital hypothyroidism, Stridor, S... OMIM:616973
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... OMIM:214500
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Renal Hypodysplasia/Aplasia 1
Proteinuria, Hypertension, Bilateral renal agenesis, Pulmonary hypoplasia, Renal dysplasia, Oligo... OMIM:191830
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Paroxysmal Cold Hemoglobinuria
Recurrent respiratory infections, Autoimmune hemolytic anemia, Abnormal urinary color, Diarrhea, ... ORPHA:90035
Denys-Drash Syndrome
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma ORPHA:220
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Failure to thrive in infancy, Neutr... OMIM:612852
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Decreased circulating cortisol level, Acne, Renal salt wasting, Long penis, Hypovolemia, P... ORPHA:90794
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... OMIM:269700
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Failure to thrive, Hyd... ORPHA:488613
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Nephrolithiasis, Myoclonic seizure, Hypertension, Second degree a... OMIM:615474
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Molybdenum cofactor deficiency, Sulfit... OMIM:615501
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Dyspnea, Hypovolemia, Periphera... ORPHA:90041
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Recurrent respiratory infections, Generalized-onset seizure, Bilat... OMIM:614231
Roifman-Chitayat Syndrome
Generalized myoclonic seizure, Arthritis, Pneumonia, Ectopic kidney OMIM:613328
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Ta... OMIM:239200
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:158048
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spasms, Tonic seizure, Steroid-de... OMIM:300912
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ... ORPHA:368
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuri... OMIM:243910
Encephalitis Lethargica
Urinary incontinence, Stiff neck, Increased circulating antibody level, Autoimmunity ORPHA:83600
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Seizu... OMIM:301072
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Atonic seizure, Obesity, Bilateral tonic-clonic seizure ORPHA:93952
Webb-Dattani Syndrome
Neurogenic bladder, Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulat... OMIM:615926
Plasminogen Deficiency, Type I
Recurrent upper respiratory tract infections, Nephrolithiasis, Conjunctivitis, Periodontitis, Nep... OMIM:217090
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Elevated circulating alkaline phosphatase concentration, Bilateral tonic-clonic seizure,... ORPHA:529665
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Weight loss, Restric... ORPHA:98897
Macrocephaly/Autism Syndrome
Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Large for gestational age, Sple... OMIM:605309
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, Abnormal heart rate... ORPHA:70588
Gm1-Gangliosidosis, Type I
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Vacuolated lymphocy... OMIM:230500
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy... ORPHA:520
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Pancytopenia, Hypospadias, Eczema, Recurrent bronchitis, Asthma, Atopic dermatitis, R... OMIM:620331
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, C... OMIM:608594
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Myoclonus, Micropenis, Slender build... ORPHA:364028
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Reduced circulating aldolase concentration, Myoglobinuria, Arrhythmia, Acute ki... ORPHA:57
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Cardiomegaly, Co... ORPHA:465508
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Bilateral tonic-clonic seizure, Increas... OMIM:252160
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Seizure, Hemophagocytosis, N... ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Di... OMIM:235555
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Secretory diarrhea, Dehydration, Hyperaldosteronism, Failure to thrive OMIM:214700
Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast... OMIM:258900
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Patent ductus arteriosus, Dehydration,... ORPHA:96191
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Vomiting, Uric acid urolithia... ORPHA:94088
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... ORPHA:100078
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure, Restrictive ventilat... ORPHA:369840
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp... OMIM:614868
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus, Dysphagia OMIM:614487
Donnai-Barrow Syndrome
Seizure, Proteinuria ORPHA:2143
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Recurrent urinary tr... ORPHA:90349
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... OMIM:619685
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Trichothiodystrophy 5, Nonphotosensitive
Chronic decreased circulating IgG1 OMIM:300953
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Elevated urinary N-acetylaspartic acid level OMIM:271900
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... ORPHA:379
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia OMIM:304700
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe... ORPHA:64280
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90037
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Abnormal EKG... ORPHA:980
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Status epilepticus, Myoclonus, ... OMIM:616672
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Pituitary hypothyroidism, Myoclonic seizure, Focal... OMIM:619983
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin rash, Small for gestatio... OMIM:277380
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Microcytic anemia, Dyspnea, 3-Methylglutaconic aciduria, Neutropenia, My... OMIM:251900
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... ORPHA:60025
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... ORPHA:2357
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytopenia, Decrease... ORPHA:293978
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur... OMIM:612164
Immunodeficiency 77
Gastroparesis, Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous ab... OMIM:619223
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus, Dysphagia ORPHA:313772
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p... ORPHA:98905
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... ORPHA:288
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Cardiac arrest, Oral-pharyngeal dysphagia, Hypothyroidi... OMIM:616878
Trichohepatoenteric Syndrome 1
Polyhydramnios, Hepatic fibrosis, Intractable diarrhea, Hepatomegaly, Hypospadias, Increased mean... OMIM:222470
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... ORPHA:293173
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl... OMIM:253200
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Hypertension, Ascites,... OMIM:610965
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Oroticaciduria, Anisopoikilocytosis, Seizure, Renal tub... OMIM:616457
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Bilateral tonic-clonic seizure, HbH hemoglobin, Prolonged neonatal jaun... ORPHA:423479
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90033
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Unilateral Polymicrogyria
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Infantile spasms, Focal-onset seizure, Se... ORPHA:268943
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Small for gestational age, Bilateral tonic-clonic seizure, Hypospad... OMIM:257300
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Elevated c... OMIM:601847
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Polyhydramnios, Splenomegaly, Jaundice, Seizure, Stomatocytosis, ... OMIM:608885
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... OMIM:618325
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Edema, Seborrheic dermatitis, Ele... ORPHA:2796
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Subdural hemorrhage, Synovitis, Intr... ORPHA:169802
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Generalized-onset seizure, Failure to t... OMIM:619418
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Myogl... ORPHA:713
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Lymphangioleiomyomatosis
Abnormal urinary color, Lymphedema, Cough, Emphysema, Renal neoplasm, Atelectasis, Lymphadenopath... ORPHA:538
Niemann-Pick Disease Type C
Generalized-onset seizure, Fetal ascites, Bone-marrow foam cells, Abnormal lung morphology, Hydro... ORPHA:646
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... OMIM:613327
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Elevated hemoglobin A1c, Bilateral tonic-clonic seizure OMIM:619278
Ogden Syndrome
Generalized-onset seizure, Apnea, Lymphedema, Cardiomegaly, Microvesicular hepatic steatosis, Ven... OMIM:300855
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Urinary incontinence, Focal hyperkinetic seizure, Nocturnal seizu... ORPHA:98784
Poems Syndrome
Thrombocytosis, Polycythemia, Edema, Pericardial effusion, Respiratory insufficiency due to muscl... ORPHA:2905
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Hepatomegaly, Generalized-onset seizure, Polyhydramnios, Decreas... ORPHA:508533
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... ORPHA:411709
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... OMIM:616037
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level, Bilateral tonic-clonic seizure OMIM:619356
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Hypospadias, Patent... OMIM:214100
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like ... OMIM:185070
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Myoclonus ORPHA:204
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Hepatic steatosis, A... OMIM:151660
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Small for gestational age, Spontaneous pneumothorax, Pulmonary arteriove... OMIM:606721
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Telangiectasia, Seizure, Elevated circulating alkaline phosphatas... ORPHA:247262
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... ORPHA:391641
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic... OMIM:158310
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... ORPHA:206572
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... OMIM:232300
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Mucopolysacchariduria, Chr... ORPHA:583
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron... OMIM:604571
Hereditary Xanthinuria
Arthropathy, Crystalluria, Xanthine nephrolithiasis, Xanthinuria, Gout, Hydronephrosis, Hematuria... ORPHA:3467
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A... ORPHA:1454
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells OMIM:604809
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria, Bilateral tonic-clonic seizure ORPHA:99742
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Vomiting, Gastroesophageal reflux, Cough, Emphysema, Hepatic steatosis, Portal hyperte... OMIM:613658
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Seizure... OMIM:251300
Syndromic Diarrhea
Bloody diarrhea, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypoplasia of the thymus, H... ORPHA:84064
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Sphero... ORPHA:71275
W Syndrome
Acne, Bilateral tonic-clonic seizure ORPHA:2804
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Dyspnea, Ab... OMIM:230800
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Obes... ORPHA:98908
H Syndrome
Psoriasiform dermatitis, Abnormality of the kidney, Microcytic anemia, Recurrent pharyngitis, Abn... ORPHA:168569
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Myoclonus ORPHA:254881
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Small for g... ORPHA:99843
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Chops Syndrome
Gastroparesis, Splenomegaly, Patent ductus arteriosus, Obesity, Anomalous pulmonary venous return... OMIM:616368
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Seizure, Vomiting, Failure to thrive, Focal myoclonic seizure ORPHA:481152
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Congestive hear... ORPHA:35687
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral edema, Nausea OMIM:602481
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Seizure, A... ORPHA:98795
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... OMIM:608779
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,... ORPHA:3132
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis, T... OMIM:616589
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Scleromyxedema
Paraproteinemia ORPHA:167635
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Urinary incontinence, Bowel incontinence, Respir... OMIM:617193
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Mucopolysacchariduria, Rhinitis ORPHA:93474
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Neonatal asphyxia, Heart murmur, Multiple bladder diverticula, Recurrent otitis media ORPHA:2728
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Dyspnea, Leukopenia, Palpitations, Myoglobinuria, Anemia OMIM:255125
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Generalized-onset seizure, Bilateral tonic-clonic ... OMIM:620066
Ohdo Syndrome
Seizure, Proteinuria OMIM:249620
Cornelia De Lange Syndrome 1
Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... OMIM:122470
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Oligohydramnios OMIM:616351
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ... OMIM:620005
Paroxysmal Nocturnal Hemoglobinuria 2
Dyspnea, Hemolytic anemia, Diarrhea, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Small for gestational a... OMIM:260400
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Dyspnea, Hepatosplenomegaly, Neutropenia, Stom... OMIM:246400
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Plague
Respiratory distress, Chapped lip, Edema, Lymphadenitis, Bloody diarrhea, Acute infectious pneumo... ORPHA:707
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pa... ORPHA:2750
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Oliguria, Heart murmur, Stroke, B... ORPHA:1054
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Nausea, Pustule, Respiratory tract infection, Seizure, Intrarenal abscess, ... ORPHA:68
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... OMIM:127550
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Decreased circulating total IgM, Eczema OMIM:618162
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multifocal seizures, Bilateral tonic-clonic seizure, Cardiomegaly, Focal-onset seiz... OMIM:618143
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Hypospadias, Renal agenesis, Reduced alpha/beta synthesis ratio, ... OMIM:301040
Galloway-Mowat Syndrome
Seizure, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Neonatal respiratory distress, Failure to thrive in infancy, Rena... OMIM:617595
Fucosidosis
Anhidrosis, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolate... OMIM:230000
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ... OMIM:146255
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Gastroesophageal reflux, Hepatomegaly, Ren... ORPHA:191
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Peroxisome Biogenesis Disorder 5A (Zellweger)
Generalized-onset seizure, Renal cyst, Elevated gamma-glutamyltransferase level, Intrahepatic bil... OMIM:614866
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne... OMIM:603860
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Recurrent respiratory infections, Bilateral tonic-clonic seizure, Simple febrile seizure, Dilatat... ORPHA:466950
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Malt Lymphoma
Recurrent respiratory infections, Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopathy, We... ORPHA:52417
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, ... OMIM:235255
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:619911
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Palpebral edema, Abnormality of the kid... ORPHA:2036
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Increased circulating lactate dehydrogenase concentration, Myoglobinuria, Acute kidney injury OMIM:268200
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Enuresis, Tubulointerstitial nephritis, Seizure, Aortic valve stenosis ORPHA:459061
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Holoprosencephaly
Hypoplasia of penis, Failure to thrive in infancy, Proteinuria, Abnormality of the spleen, Respir... ORPHA:2162
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure... OMIM:619777
Infantile Neuroaxonal Dystrophy
Seizure, Apneic episodes in infancy, Constipation, Aspiration pneumonia, Increased circulating la... ORPHA:35069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy OMIM:253700
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Pneumonia, Jaundice, Seizure, Vomiting, Failure to thrive ORPHA:90790
Dubowitz Syndrome
Aplastic anemia, Eczema, Acute lymphoblastic leukemia, Otitis media, Decreased circulating IgG le... OMIM:223370
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Heparan sulfate excretion i... OMIM:607015
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Micropenis, Bilateral tonic-clonic seizure, Dysphagia OMIM:619435
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Cockayne Syndrome B
Hepatomegaly, Anhidrosis, Renal insufficiency, Small for gestational age, Proteinuria, Splenomega... OMIM:133540
Cockayne Syndrome A
Hepatomegaly, Anhidrosis, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypertensio... OMIM:216400
Digeorge Syndrome
Impaired T cell function, Abnormal thymus morphology, Hypoplasia of the thymus, Gastroesophageal ... OMIM:188400
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... OMIM:620024
Degcags Syndrome
Polyhydramnios, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficienc... OMIM:619488
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Generalized-onset seizure, Extramedullary hematopoiesis, Splenomegaly... OMIM:259720
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Decreased circulating IgG level, Erythroderma OMIM:601675
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Bilateral tonic-c... OMIM:280000
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Adenoiditis, Cardiomegaly, Splenomegaly, Respir... ORPHA:581
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Renal agenesis, Splenomegaly, Hypercalciuria, Lacunar st... OMIM:618440
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Patent ductus arteriosus, Generalized non-motor (absence) seizure... ORPHA:435638
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Elliptocytosis, Micro... ORPHA:86818
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respiratory failure OMIM:617809
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Typical absence seizure, Hepatosplenomegal... ORPHA:845
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Clonic seizure, Myoclonic ... OMIM:619580
Trichinellosis
Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Retinal hemor... ORPHA:863
Occipital Horn Syndrome
Recurrent urinary tract infections, Gastroparesis, Venous insufficiency, Jaundice, Hepatitis, Cho... ORPHA:198
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy, Atherosclerosis ORPHA:79292
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur ORPHA:1867
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulating enzyme concentration ... ORPHA:95159
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, ... OMIM:602782
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Bilateral tonic-clonic seizure, Infantile spasms, Multiple renal cysts, Red... OMIM:618733
X Small Rings
Bilateral tonic-clonic seizure, Fetal pyelectasis, Seizure, Aortic root aneurysm, Mitral stenosis... ORPHA:96201
1Q44 Microdeletion Syndrome
Vesicoureteral reflux, Bilateral tonic-clonic seizure, Horseshoe kidney ORPHA:238769
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammation, Conju... ORPHA:95455
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Micropenis, Hypot... ORPHA:268261
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis... ORPHA:79277
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Dilatation of renal calices, Asthma, Nasal flaring, Generalized n... ORPHA:466943
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho... OMIM:124000
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Small for gestational age, Bilateral tonic-clonic seizure, Recu... OMIM:234100
Becker Muscular Dystrophy
Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria ORPHA:98895
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Bilateral tonic-clonic seizure, Apnea, Hypop... OMIM:618426
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Seizure, Chronic const... OMIM:619482
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Micronodular cirrhosis, Myoclonus, Atonic seizure... ORPHA:404454
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Martin-Probst Syndrome
Renal insufficiency, Pancytopenia, Proteinuria, Telangiectasia, Chordee, Micropenis, Hypothyroidism OMIM:300519
22Q11.2 Deletion Syndrome
Impaired T cell function, Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology... ORPHA:567
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Seizure, Aminoaciduria, Gastroeso... OMIM:617913
Aymé-Gripp Syndrome
Pericarditis, Proteinuria, Pericardial effusion, Patent ductus arteriosus, Seizure, Febrile seizu... ORPHA:1272
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Seizure, Proteinuria OMIM:222448
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... ORPHA:90348
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Polyhydramnios, Edema... OMIM:602522
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Ketonuria, Failure to t... ORPHA:247598
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures OMIM:619725
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Pancreatic lymphangiectasis, Splenomegaly, Abnormal renal morpholog... ORPHA:1655
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Ren... OMIM:619297
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Myoclonus, Aspiration pneumonia ORPHA:53351
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Sec... OMIM:618183
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Pulmo... OMIM:615802
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ureteral duplication, Hypoplasia of pen... ORPHA:373
Cleft Velum
Recurrent otitis media, Aspiration pneumonia, Oral-pharyngeal dysphagia ORPHA:99772
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Warburg Micro Syndrome 3
Micropenis, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Bilateral tonic-clonic seizure, Dyspnea, Patent ductus arteriosus, Dilated cardiomy... OMIM:610505
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Seizure, Pulmonic stenosis, Pulmonary arteri... OMIM:616028
Cystic Fibrosis
Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Meconium ileus, Reduc... ORPHA:586
Choreoacanthocytosis
Hepatomegaly, Bilateral tonic-clonic seizure, Elevated circulating aspartate aminotransferase con... ORPHA:2388
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Bilateral tonic-clonic seizure with generalized o... ORPHA:2072
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Pseudoleprechaunism Syndrome, Patterson Type
Joint swelling, Bladder diverticulum, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Miller-Dieker Lissencephaly Syndrome
Epileptic spasm, Infantile spasms, Polyhydramnios, Seizure, Pelvic kidney, Failure to thrive, Rec... OMIM:247200
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Bilateral tonic-clonic seizure, Elevated circulating luteinizing hormone level... ORPHA:3044
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Reduced forced vital capacity, Dilated cardiomyopathy, Abnormal l... OMIM:607155
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Abnormal cerebral vascular morphology, Periorbital ed... ORPHA:904
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Hepatic fibrosis, Gastroesophageal reflux, Elevated gamma-glutamyltransfer... OMIM:619534
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Mucolipidosis Type Ii
Aortic regurgitation, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:576
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Jaberi-Elahi Syndrome
Failure to thrive, Bilateral tonic-clonic seizure OMIM:617988
De Sanctis-Cacchione Syndrome
Keratitis, Conjunctivitis, Bilateral tonic-clonic seizure, Telangiectasia OMIM:278800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Gastroesophageal reflux, Aspiration pneumonia, Vesicoureteral reflux, Hypothyroidism, Hypo... ORPHA:438213
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Micropenis, Febrile seiz... OMIM:617798
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Rayna... OMIM:613471
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Intermittent hyperventilation, Bilateral tonic-clonic seizure with focal onset, Foc... ORPHA:163681
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Hypospadias, Patent ductus arterios... ORPHA:353281
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Palpebral edema, Unilateral renal agenesis, Congestive heart failure, Renal ... OMIM:181270
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Edema, Polyhydramnios, Cardiomegaly... ORPHA:51608
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular ... ORPHA:423
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... OMIM:301074
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... OMIM:620224
Doors Syndrome
Respiratory distress, Increased urine alpha-ketoglutarate concentration, Bilateral tonic-clonic s... ORPHA:79500
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Myoglob... OMIM:620138
Developmental And Epileptic Encephalopathy 49
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617281
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Failure to thrive, Chronic constipation, Aspiration pneumonia OMIM:616430
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Vascular dilatation, Hypertension, Seizure, Hepatic fibrosis, Poly... OMIM:311200
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Tracheomalacia, Generalized non-motor (absence) seizure, Right ao... ORPHA:513456
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Cockayne Syndrome Type 3
Gastroesophageal reflux, Hepatomegaly, Renal hypoplasia, Cardiomyopathy, Seizure, Urinary retenti... ORPHA:90324
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Reduced vital capacity, Exercise-induced myoglobinuria ORPHA:352479
Chronic Graft Versus Host Disease
Fasciitis, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Bronchiectasis, Bronchiolitis obli... ORPHA:99921
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, F... OMIM:610042
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Edema, Retinal hemorrhage, Stage 5 chronic kidney disea... OMIM:609049
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Recurr... ORPHA:309282
Mucopolysaccharidosis Type 2, Severe Form
Abnormal circulating enzyme concentration or activity, Dermatan sulfate excretion in urine, Hepar... ORPHA:217085
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Tachycardia, Hypotension OMIM:145600
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Joubert Syndrome 21
Apnea, Splenomegaly, Dyspnea, Renal cyst, Seizure, Respiratory failure, Pulmonary hypoplasia, Dys... OMIM:615636
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Telangiectasia of the s... ORPHA:1775
Wagro Syndrome
Hypertension, Nephroblastoma, Proteinuria, Obesity OMIM:612469
Chromosome Xp11.3 Deletion Syndrome
Asthma, Bilateral tonic-clonic seizure OMIM:300578
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal circulating enzyme concentration or activity, Dermatan sulfate excretion in urine, Hepar... ORPHA:217093
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Recurrent respiratory infections, Bilateral tonic-clonic seizure, Urinary incontinence, Infantile... ORPHA:447997
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy, Myoglobinuria ORPHA:119
Sotos Syndrome
Ureteral duplication, Pedal edema, Gastroesophageal reflux, Vesicoureteral reflux, Chronic otitis... ORPHA:821
Familial Tumoral Calcinosis
Hepatomegaly, Skin rash, Splenomegaly, Hyperhidrosis, Nephrocalcinosis ORPHA:53715
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Patent ductus arteriosus, Increased nuchal translucency, Hypertrophy of the urinary ... ORPHA:280633
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Calcification of the aorta, Seizure, Mitr... OMIM:231005
Pmm2-Cdg
Respiratory distress, Lymphedema, Intracranial hemorrhage, Hepatic fibrosis, Vomiting, Aspiration... ORPHA:79318
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Diarrhea, Lymphadenopathy,... ORPHA:139411
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Aspiration, Hypospa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Aspiration, Hypospa... ORPHA:353277
African Trypanosomiasis
Urinary incontinence, Conjunctivitis, Vomiting, Iritis, Nausea, Abnormal EKG, Hepatomegaly, Hepat... ORPHA:3385
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Hypospadias, Polyhydramnios, Focal-onset seizure, Dilatation of t... ORPHA:459070
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Renal insufficiency, Apnea, Hypo... ORPHA:397715
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Vasculitis in the skin, Malar rash, Cheilitis ORPHA:163525
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Increased cir... OMIM:619472
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Gastroesophageal reflux, Dysphag... ORPHA:73230
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Head titubation, Urinary... ORPHA:99027
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Hemoglobinuria OMIM:266120
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure, Dysphagia ORPHA:329308
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Bilateral tonic-clonic seizure, Tonic seizure, Fetal pyelectasi... OMIM:619512
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Dysphagia OMIM:128100
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Polyhydramnios, Hypercapnia, Respiratory insufficiency due to m... ORPHA:2020
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Renal insu... OMIM:614748
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Proteinuria, Elevated hemog... OMIM:619127
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cholelithiasis, Autoimmune thro... ORPHA:77293
Weaver Syndrome
Seizure, Patent ductus arteriosus, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:277590
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Cholelithiasis... OMIM:263700
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, L... ORPHA:667
Beckwith-Wiedemann Syndrome
Ureteral duplication, Polyhydramnios, Large for gestational age, Cardiomegaly, Vesicoureteral ref... ORPHA:116
Coffin-Siris Syndrome
Hypospadias, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Horseshoe ki... ORPHA:1465
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Cerebral hemorrhage, Encopresis, Patent ductus arteriosus, Seizure, Gastroesophageal... OMIM:616682
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bilateral tonic-clonic seizure, Eczema, Asthma, Recurrent pneumonia, Generalized non-motor (absen... OMIM:620330
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, Eczema, Seborr... ORPHA:83617
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Splenomegaly, Defective production of... OMIM:612132
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Chronic constipation, Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Asthma, Obesity, Periodontitis, Moderate albuminuria, Hydronephrosis OMIM:619269
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Central hypothyr... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Central hypothyr... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Central hypothyr... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Central hypothyr... ORPHA:93924
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure with focal onset, Shortened PR int... OMIM:614947
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy, Myoglobinuria ORPHA:206549
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Bilateral toni... OMIM:147920
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Congestive heart failure, Pat... ORPHA:444077
Opitz Gbbb Syndrome
Enlarged ovaries, Hypospadias, Patent ductus arteriosus, Vesicoureteral reflux, Coarctation of ao... ORPHA:2745
Marshall-Smith Syndrome
Apnea, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Premature ventricu... OMIM:602535
Cranioectodermal Dysplasia 1
Hepatomegaly, Recurrent respiratory infections, Malformation of the hepatic ductal plate, Renal m... OMIM:218330
Johanson-Blizzard Syndrome
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Micropenis, Hypothyroidism, Hepatomeg... OMIM:243800
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Parti... OMIM:301044
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Fasciitis, Osteomyelitis, Chronic kidney disease, Hyperhidrosis, Anemia, Abnormality ... ORPHA:642
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... OMIM:616268
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bilateral tonic-clonic seizure, Patent ductus arteriosus, Generalized non-m... OMIM:612474
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Slender build, Bilateral tonic-clonic seizure, Large for gestational age ORPHA:457359
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Splenomegaly, Arthritis, ... ORPHA:93
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Fontaine Progeroid Syndrome
Prominent superficial veins, Tricuspid regurgitation, Small for gestational age, Patent ductus ar... OMIM:612289
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Hartsfield Syndrome
Micropenis, Gonadotropin deficiency, Hypospadias, Bilateral tonic-clonic seizure OMIM:615465
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Recurrent respiratory infections, Small for gestational age, Pneumonia, Hy... OMIM:264090
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Palpebral edema, Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, Seizure, C... OMIM:614756
Orofaciodigital Syndrome Type 2
Tachypnea, Central retinal vessel vascular tortuosity, Bilateral tonic-clonic seizure, Apnea ORPHA:2751
Holoprosencephaly 14
Double outlet right ventricle, Bilateral tonic-clonic seizure OMIM:619895
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Polyhydramnios, Hypospadias, Hydrops fet... OMIM:216340
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis, Cerebral hemorrhage ORPHA:3002

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 Fcgr2b

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 Fcgr2b.

No publications found that use IMPC mice or data for Fcgr2b.

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