Not currently registered for phenotyping at IMPC

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

Gene Summary

suppressor of cytokine signaling 3
EF-10,  SOCS-3,  cytokine-inducible SH2 protein 3,  CIS3,  STAT-induced STAT inhibitor 3,  SSI-3,  E2a-Pbx1 target gene in fibroblasts 10,  Cish3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Socs3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Socs3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Urticaria, Erythema, Cutaneous mastocytosis OMIM:154800
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Abnormal lymphocyte morphology, Erythema ORPHA:33314
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Erythema, Decreased liver function, Cutaneous photo... ORPHA:79278
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia, Cyanosis OMIM:613977
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Erythrocytosis, Familial, 1
Plethora, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass, Splenomegaly OMIM:133100
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Recurrent otitis... OMIM:618495
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hemolytic anemia, Cholelithiasis, Erythema OMIM:177000
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Increased serum serotonin, Weight loss, Adrenocorticotropic hormone exce... ORPHA:100083
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... OMIM:618852
Pericardial Effusion, Chronic
Polycythemia, Flushing OMIM:260900
Rosaï-Dorfman Disease
Anemia, Erythema ORPHA:158014
Cutaneous Collagenous Vasculopathy
Vascular skin abnormality, Diffuse telangiectasia, Prominent superficial blood vessels, Erythema,... ORPHA:280779
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Weight loss ORPHA:3389
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Cyanosis OMIM:250800
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia, Eczema OMIM:300988
Tempi Syndrome
Polycythemia, Increased hematocrit, Facial erythema, Telangiectasia ORPHA:284227
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema OMIM:219095
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Erythema, Cholestasis OMIM:609313
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Pulmonary Blastoma
Weight loss ORPHA:64741
Keratolytic Winter Erythema
Erythema OMIM:148370
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Erythema ORPHA:90159
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Erythema, Hepatomegaly, Splenomegaly, Skin ulcer, Dry skin ORPHA:2584
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Increased circulating IgM le... OMIM:618534
Erythema Of Acral Regions
Erythema OMIM:227000
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Erythema Nodosum, Familial
Erythema OMIM:132990
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Autoimmunity, Neutropen... ORPHA:231154
Erythrocytosis, Familial, 2
Increased red blood cell mass, Plethora, Increased hematocrit, Increased hemoglobin OMIM:263400
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Knee flexion co... OMIM:604416
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90160
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema ORPHA:2337
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema OMIM:617524
Cutaneous Small Vessel Vasculitis
Erythema, Urticaria, Cutis marmorata, Purpura ORPHA:889
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Erythema OMIM:607602
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Conjunctiviti... OMIM:603552
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Dermatitis Herpetiformis
Erythema, Skin vesicle, Urticaria, Microcytic anemia ORPHA:1656
Farber Lipogranulomatosis
Joint swelling, Lipogranulomatosis, Hepatomegaly, Splenomegaly, Arthritis OMIM:228000
Erosive Pustular Dermatosis Of The Scalp
Erythema ORPHA:222
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Hepatomegaly, Abnormal B cell cou... ORPHA:100024
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Primary Erythromelalgia
Leukemia, Erythema ORPHA:90026
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Necrobiosis Lipoidica
Telangiectasia of the skin, Erythema, Fragile skin, Abnormality of neutrophil physiology, Skin ulcer ORPHA:542592
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema OMIM:617526
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Hypermanganesemia With Dystonia 1
Cirrhosis, Elevated hepatic transaminase, Polycythemia, Hepatomegaly, Decreased liver function OMIM:613280
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly ORPHA:882
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema OMIM:617525
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Keratolytic Winter Erythema
Erythema ORPHA:50943
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Increased bone mineral density, Hepatom... ORPHA:37748
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Quinquaud Folliculitis Decalvans
Erythema ORPHA:346
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Limitation of joint mobility, Eosinophilia, Arthritis ORPHA:2582
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dry skin, Erythema ORPHA:495
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Colitis, B lymphocytopenia, Splenomegaly, Ly... OMIM:619164
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Ulerythema Ophryogenesis
Erythema ORPHA:3406
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Erythema n... OMIM:611762
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Weight loss ORPHA:411593
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Dry skin, Palmoplantar scaling skin, Scaling skin, Erythema ORPHA:530838
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis ORPHA:139436
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Skin rash, Maculopapular exanthema, Hepat... ORPHA:98848
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Bronchiectasi... OMIM:300853
Granulomatous Slack Skin
Redundant skin, Cutis laxa, Erythema ORPHA:33111
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... OMIM:240500
Livedoid Vasculopathy
Poor wound healing, Leukocytosis, Polycythemia, Telangiectasia of the skin, Pancytopenia, Macular... ORPHA:542643
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Petechiae, Splenomegaly, Bruising susceptibi... OMIM:314050
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Epidermolytic Palmoplantar Keratoderma
Erythema ORPHA:2199
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia OMIM:613502
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema OMIM:617571
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Neutropenia OMIM:613501
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Acquired Ichthyosis
Dry skin, Erythema ORPHA:454
Felty Syndrome
Recurrent pneumonia, Osteolysis, Pericarditis, Autoimmunity, Abnormal lymphocyte morphology, Chro... ORPHA:47612
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus ... OMIM:152700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly OMIM:226990
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:610947
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Acral Peeling Skin Syndrome
Excessive wrinkling of palmar skin, Scaling skin, Erythema ORPHA:263534
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Sydenham Chorea
Erythema ORPHA:306731
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Joint swelling, Autoimmunity, Hepatomegaly, Juvenile rheumatoid arthriti... ORPHA:85414
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Idiopathic Achalasia
Weight loss ORPHA:930
Fumarase Deficiency
Polycythemia, Cholestasis, Hepatic failure, Reduced subcutaneous adipose tissue, Pallor OMIM:606812
Sjögren-Larsson Syndrome
Dry skin, Urticaria, Erythema ORPHA:816
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79303
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Dry skin OMIM:212360
Mal De Meleda
Perioral erythema OMIM:248300
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Scaling skin, Erythema ORPHA:90158
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Splenomegaly ORPHA:417
Familial Cold Autoinflammatory Syndrome 3
Cold urticaria, Angioedema, Dermatographic urticaria, Erythema OMIM:614468
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Recurrent skin infection... OMIM:612840
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Dry skin, Erythema ORPHA:317
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Erythema, Splenomegaly OMIM:619183
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Ab... ORPHA:100026
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Pfapa Syndrome
Hepatomegaly, Encephalitis, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:42642
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Anemia, Erythema OMIM:608068
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Bullous Impetigo
Erythema ORPHA:36237
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Autoimmunity, Abnormal lymphocyte morphology, Pneumonia, T... ORPHA:229717
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Insulin-resistant diabetes m... ORPHA:79085
Isaac Syndrome
Weight loss ORPHA:84142
Lig4 Syndrome
Leukocytosis, Erythema, Pancytopenia, Hepatomegaly, Telangiectasia of the skin, Cutaneous photose... ORPHA:99812
Chronic Hiccup
Weight loss ORPHA:396
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Increased adipose tissue around the neck, L... ORPHA:435660
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Erythema OMIM:147060
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Adult-Onset Still Disease
Elevated hepatic transaminase, Leukocytosis, Erythema, Hepatomegaly, Hepatitis, Splenomegaly, Neu... ORPHA:829
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent... OMIM:604173
Mulibrey Nanism
Cachexia ORPHA:2576
Diencephalic Syndrome
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Psoriasis 14, Pustular
Neutrophilia, Cholangitis, Erythema, Leukocytosis OMIM:614204
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of gluteal subcu... ORPHA:435651
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Lymphadenopathy, Patellar overgrowth, Anemia, Hepatosplenomegal... OMIM:607115
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Autoimmunity, Panniculitis, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Decreased circulating antibody level, Uveitis, Pancytopeni... OMIM:615122
Huntington Disease-Like 2
Weight loss ORPHA:98934
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Erythema, Cutis marmorata, Anemia, Leukopenia, Telangiectasia OMIM:615934
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplasia ... OMIM:603554
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Snakebite Envenomation
Thrombocytopenia, Angioedema, Ecchymosis, Erythema ORPHA:449285
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Peeling Skin Syndrome 1
Scaling skin, Erythema OMIM:270300
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... OMIM:266200
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Joint swelling, Iridocyclitis, Hip osteoarthritis, Flexion contrac... ORPHA:85408
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Cutan... OMIM:618892
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Acrocyanosis, Purpura, Erythema, Hepatomegaly, Urticaria ORPHA:343
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphati... OMIM:616005
Familial Cold Urticaria
Urticaria, Erythema ORPHA:47045
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Congenital finger flexion contractures, Wrist flexion contracture, Gen... OMIM:208250
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79301
Centrifugal Lipodystrophy
Scaling skin, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Erythema ORPHA:90156
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Lipoatrophy, Lipodystrophy, Weight loss, Type I diabetes mellitus, Cachexia,... ORPHA:1979
Juvenile Idiopathic Arthritis
Skin rash, Abnormal sacroiliac joint morphology, Joint swelling, Autoimmunity, Uveitis, Abnormal ... ORPHA:92
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, Sclerosing cholangitis, Jau... ORPHA:2137
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Chronic otitis media, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, ... ORPHA:3226
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Reduced bone mineral density, Splenomegaly ORPHA:172
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Elevated hepatic transaminase, Polycythemia, Hepatomegaly, Jaundice, Sple... ORPHA:309854
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Hepatomegaly, Anemia, Splenomegaly, Osteopenia OMIM:618107
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Chol... OMIM:232800
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Erysipelas, Splenomegaly OMIM:214900
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Bullous Pemphigoid
Urticaria, Erythema ORPHA:703
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Elevated hepatic transaminase, Hemobilia,... ORPHA:88673
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Fragile skin, Cutaneous photosensitivity, Telangiectasia, Erythema ORPHA:158673
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Cholestasis, Splenomegaly OMIM:105200
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Elevated hepatic transaminase, Acute hepatic failure, Erythema, Hepatitis, Angioed... ORPHA:139402
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Lymphopenia, Flexion contracture, Panniculitis, ... OMIM:617591
X-Linked Dominant Chondrodysplasia Punctata
Erythema ORPHA:35173
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Hypotrichosis 6
Erythema OMIM:607903
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Hypereosinop... OMIM:617388
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Hemochromatosis, Type 2A
Hepatomegaly, Arthritis, Cirrhosis, Splenomegaly OMIM:602390
Hemochromatosis, Type 3
Cirrhosis, Lymphopenia, Neutropenia, Anemia, Arthritis OMIM:604250
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Weight loss, Primary hyperparathyroidism, Elevated calcitonin, ... ORPHA:1332
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenome... OMIM:612714
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Erythema, Splenomegaly ORPHA:33577
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, B lymphoc... OMIM:612260
Oral Erosive Lichen
Dry skin, Erythema ORPHA:31142
Polyarteritis Nodosa
Cutis marmorata, Skin ulcer, Erythema ORPHA:767
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Limitation of joint mobilit... ORPHA:1416
Pruritic Urticarial Papules And Plaques Of Pregnancy
Skin vesicle, Facial erythema, Striae distensae, Palmoplantar erythema ORPHA:64745
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Splenomegaly ORPHA:2204
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema OMIM:606545
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Dry skin, Scaling skin, Erythema OMIM:614457
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Splenomegaly OMIM:608540
Von Hippel-Lindau Syndrome
Pancreatic cysts, Polycythemia, Abnormality of the liver, Neoplasm of the pancreas OMIM:193300
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Reduced bone minera... ORPHA:848
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Cinca Syndrome
Delayed closure of the anterior fontanelle, Abnormality of neutrophils, Leukocytosis, Abnormal gr... ORPHA:1451
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Flexion cont... ORPHA:77297
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Autoimmunity, Pneumonia,... ORPHA:39041
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Prolidase Deficiency
Erythema, Hepatomegaly, Splenomegaly, Cutaneous photosensitivity, Skin ulcer, Dry skin ORPHA:742
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism, Weight loss OMIM:613239
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Autoimmunity, Chronic otitis media, Neutropenia, Thrombocytopenia... ORPHA:47
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:615846
Huntington Disease-Like 2
Weight loss OMIM:606438
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Decreased proportion of CD3-positive T cells, ... ORPHA:275
Poems Syndrome
Acrocyanosis, Polycythemia, Thrombocytosis ORPHA:2905
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Fountain Syndrome
Spina bifida, Cutis marmorata, Spina bifida occulta, Erythema ORPHA:3219
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Myositis, C... ORPHA:69126
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, R... ORPHA:227990
Vulvovaginal Gingival Syndrome
Erythema ORPHA:83453
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cirrhosis, Nail bed telangiectasia, Lip telangiectasia, Hepatic arte... OMIM:600376
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Neutropenia, Maculopapular exanthema, Pancytopenia, Thrombocytopenia... ORPHA:398124
Mycosis Fungoides
Erythema OMIM:254400
Focal Myositis
Weight loss ORPHA:48918
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Pallor OMIM:611590
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Limitation ... ORPHA:108
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Vasculitis in the skin, Neutropenia, Erythema, Eosinophilia OMIM:615816
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Weight loss OMIM:275000
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly OMIM:602271
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis ORPHA:79312
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Osteolysis, Joint swelling, Stomatitis, Fused cervical vertebrae, Hepatomegal... OMIM:612852
Central Diabetes Insipidus
Diabetes insipidus, Failure to thrive, Weight loss ORPHA:178029
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Hirschsprung Disease
Neoplasm of the thyroid gland, Weight loss, Failure to thrive in infancy ORPHA:388
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Autoimmune Hemolytic Anemia
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Splenomega... OMIM:616278
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Reduced bone min... ORPHA:2785
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Hurler-Scheie Syndrome
Hepatomegaly, Rhinitis, Splenomegaly, Abnormality of the tonsils, Limitation of joint mobility ORPHA:93476
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Perioral erythema OMIM:614328
Pemphigus Foliaceus
Skin vesicle, Erythema ORPHA:79481
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Fixed Drug Eruption
Generalized abnormality of skin, Erythema ORPHA:293812
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, R... ORPHA:227982
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Familial Benign Chronic Pemphigus
Skin vesicle, Erythema ORPHA:2841
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Osteolysis, Leukocytosis, Neutropenia, Ma... ORPHA:98850
Subcutaneous lipoma, Extrahepatic cholestasis, Intrahepatic cholestasis, Neoplasm of the liver, E... ORPHA:97282
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Wilson Disease
Acute hepatitis, Cirrhosis, Joint swelling, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepato... ORPHA:905
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Increased circulating antibody level, Biliary tract obstruction, Pancytope... ORPHA:77259
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233710
Interstitial Granulomatous Dermatitis With Arthritis
Erythema ORPHA:79099
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Radioulnar synostosis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Limite... OMIM:616738
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Conjunctivitis, Arthritis OMIM:120100
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Autoimmune hemolytic anemia, Autoimmunity, Chronic lymphatic leukem... ORPHA:90033
Beta-Thalassemia Intermedia
Osteoporosis, Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis,... ORPHA:231222
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegal... OMIM:616050
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Autoimmunity, Rheumatoid arthritis, Uveitis, Knee osteoarthritis, Oligoarthr... ORPHA:85410
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Small for gestationa... ORPHA:424
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Classic Hodgkin Lymphoma
Skin rash, Osteolysis, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Arthritis ORPHA:3165
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Muckle-Wells Syndrome
Skin rash, Camptodactyly of finger, Uveitis, Hepatomegaly, Conjunctivitis, Episcleritis, Anemia, ... ORPHA:575
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Erythema, Mastocytosis, Skin vesicle, Urticaria ORPHA:2135
Toxic Epidermal Necrolysis
Elevated hepatic transaminase, Acute hepatic failure, Neutropenia, Erythema, Thrombocytopenia, An... ORPHA:537
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Lymphadenopathy,... ORPHA:2442
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Microscopic Polyangiitis
Peritonitis, Erythema, Cutis marmorata, Pancreatitis, Subcutaneous hemorrhage, Skin ulcer ORPHA:727
Mixed Connective Tissue Disease
Skin rash, Osteolysis, Hemolytic anemia, Joint swelling, Pericarditis, Autoimmunity, Hepatomegaly... ORPHA:809
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus, Limitation of joint mobility ORPHA:399180
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... ORPHA:552
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Osteoporosis, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thro... ORPHA:98849
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:306400
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Leukocytosis, Lymphadenitis, Splenomegaly, Increa... OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233690
Stevens-Johnson Syndrome
Elevated hepatic transaminase, Abnormality of neutrophils, Acute hepatic failure, Erythema, Throm... ORPHA:36426
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema OMIM:242100
Familial Tumoral Calcinosis
Hepatomegaly, Erythema, Splenomegaly ORPHA:53715
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Pustule, Increased circulating antibody le... ORPHA:48104
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Osteopenia OMIM:269920
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Lym... OMIM:613179
Q Fever
Pericarditis, Anticardiolipin IgG antibody positivity, Antimitochondrial antibody positivity, Pne... ORPHA:781
Roifman Syndrome
Recurrent pneumonia, Recurrent otitis media, Hepatomegaly, Eosinophilia, Hip contracture, Splenom... OMIM:616651
Complex Regional Pain Syndrome
Dry skin, Erythema ORPHA:83452
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Abnormality of circulating leptin level, Abnorma... ORPHA:2298
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema OMIM:615821
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Poor wound healing, Purpura, Striae distensae, Bruising susceptibility, Ecchymosis OMIM:219090
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Joint swelling, Leukocytosis, Panniculitis, Increased... OMIM:617099
Skin rash, Hemolytic anemia, Pericarditis, Decreased circulating antibody level, Abnormal lymphoc... ORPHA:99867
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Decreased circulating antibody level, Erythroderma, Neutropenia, Mac... ORPHA:540
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat, Cachexia OMIM:610965
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Flexion contracture, Pancytopenia, Thrombocytopenia, Hepatome... ORPHA:85212
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema OMIM:613943
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormality of the pancreas, Anemia, Neutrophilia, Abnormality of the lymphatic sy... ORPHA:54251
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Systemic lupus erythematosus, Muscle specific kinase ant... ORPHA:589
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Anti-liver cytosolic antigen type 1 antibody pos... ORPHA:37042
Sialidosis Type 2
Osteoporosis, Flexion contracture, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cirrhosis, Nail bed telangiectasia, Lip telangiectasia, Hepatic arte... OMIM:187300
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chylous ascites, Abnormality of ... ORPHA:90363
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Sunct Syndrome
Flushing, Facial erythema ORPHA:57145
Lung abscess, Prostatitis, Cutaneous abscess, Splenic abscess, Acute infectious pneumonia, Pneumo... ORPHA:31202
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Increased adipose... ORPHA:280365
Chronic Granulomatous Disease
Abnormality of neutrophils, Otitis media, Hepatomegaly, Sinusitis, Inflammatory abnormality of th... ORPHA:379
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema OMIM:104100
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Letterer-Siwe Disease
Seborrheic dermatitis, Neutropenia, Stomatitis, Thrombocytopenia, Jaundice, Anemia, Hepatosplenom... OMIM:246400
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Prolidase Deficiency
Recurrent pneumonia, Systemic lupus erythematosus, Increased circulating antibody level, Thromboc... OMIM:170100
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Recurrent b... OMIM:214500
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Dry skin OMIM:308800
Perry Syndrome
Weight loss ORPHA:178509
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema OMIM:614878
Subcorneal Pustular Dermatosis
Pustule, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Rheuma... ORPHA:48377
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with ... ORPHA:99819
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Autoimmunity, Chronic otitis media, Pneumonia, Thrombocytopenia, Hepatomegaly, ...