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Gene: Tnfaip3 MGI:1196377

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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:
tumor necrosis factor, alpha-induced protein 3
Synonyms:
A20,  Tnfip3,  zinc finger protein A20

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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 Tnfaip3 mutations

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

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

The table below shows human diseases associated to Tnfaip3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Systemic Lupus Erythematosus
Discoid lupus rash, Anorexia, Leukopenia, Malar rash, Hematuria, Proteinuria, Lupus nephritis, Ar... ORPHA:536

The table below shows human diseases predicted to be associated to Tnfaip3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... OMIM:619164
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Sparse pubic hair, Ab... OMIM:228300
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Azoospermia,... OMIM:614897
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... OMIM:617006
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decre... ORPHA:453533
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... OMIM:615767
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr... OMIM:620651
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop... OMIM:618394
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo... OMIM:308750
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoim... ORPHA:444463
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... OMIM:608971
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... OMIM:613101
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... ORPHA:411593
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ... OMIM:604416
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Low anterior hairline, Delayed puberty, Hyperinsulinemic hypoglycemia, Primary... OMIM:616033
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Hepatitis Delta
Hepatic failure, Hepatitis, Hepatocellular carcinoma, Elevated circulating aspartate aminotransfe... ORPHA:402823
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Pancreatitis, Diabetes mellitus ORPHA:79084
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Congenital Generalized Lipodystrophy
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Hypertrichosis, Overgrow... ORPHA:528
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... ORPHA:567544
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hirsutism, Primary amenorrhea, Diabetes mel... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas, Arthritis ORPHA:1195
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ... ORPHA:79085
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal la... ORPHA:435660
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... ORPHA:563991
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia,... OMIM:607594
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Abnormal lymph node morphology, Decr... ORPHA:911
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... OMIM:304790
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Splenomegaly, Dysmenorrhea, Polycystic o... ORPHA:79083
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Graft Versus Host Disease
Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Elevated ci... ORPHA:39812
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia... OMIM:152700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Protracted diarrhea, Lymphopenia, Hepatosple... ORPHA:169160
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis ORPHA:2582
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Autosomal Agammaglobulinemia
Bronchiectasis, Diarrhea, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Arthritis, Sinusiti... ORPHA:33110
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... OMIM:614878
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis ORPHA:139436
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ... ORPHA:436159
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia OMIM:616941
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased... ORPHA:158061
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin ra... OMIM:618963
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Oligomenorrhea, Insulin-resistant diabetes mellitus OMIM:613877
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Generalized hirsutism, Pancre... ORPHA:2348
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, I... ORPHA:540
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Elevated circulating hepatic tr... ORPHA:2137
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... ORPHA:100024
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,... ORPHA:182050
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia ORPHA:52416
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Premature ovarian insufficiency, Hypergonadot... ORPHA:79237
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Secretory diarrhea, Pancytopenia, Villous atrophy, Splenomegal... OMIM:616050
Alpha-Heavy Chain Disease
Ascites, Malabsorption, Abnormal small intestine morphology, Splenomegaly, Dysgammaglobulinemia, ... ORPHA:100025
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Dracunculiasis
Diarrhea, Limitation of joint mobility, Nausea and vomiting, Skin rash, Arthritis, Flexion contra... ORPHA:231
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Intestinal perforation, Abnormal circulating chemokine concentration, G... ORPHA:544482
Immunodeficiency 27A
Pneumonia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegaly, Leukocytosis, ... OMIM:209950
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Mueller-Weiss Syndrome
Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at... ORPHA:566943
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Pathologic fracture, Acute he... ORPHA:905
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... OMIM:614379
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Abnorm... ORPHA:397596
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Chronic diarrhea, Anemia... ORPHA:47
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctiviti... OMIM:601457
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Malabsorption, Otitis media, Skin rash, Anem... ORPHA:229717
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Hep... OMIM:613812
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Hypopituitarism, Decreased circulating T4 concentratio... ORPHA:226307
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Ab... OMIM:613501
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Thrombocytopenia ORPHA:3327
Aicardi-Goutieres Syndrome 6
Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros... ORPHA:564003
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent ... OMIM:240500
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Renal tu... OMIM:162000
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... ORPHA:52901
Pediatric Systemic Lupus Erythematosus
Diarrhea, Microangiopathic hemolytic anemia, Lymphopenia, Dark urine, Hematuria, Abdominal disten... ORPHA:93552
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Nausea, Dysp... ORPHA:319218
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Malabsorption, Leukocytosis, Increased susce... ORPHA:77297
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Cortisone Reductase Deficiency 2
Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio... OMIM:614662
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R... ORPHA:79303
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Arthritis, Erythema nodosum... OMIM:611762
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Adult-Onset Still Disease
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pn... ORPHA:829
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff... ORPHA:91138
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Diarrhea, Rickets, Intrahepatic cholestasis, Elevated circ... OMIM:607765
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic ane... OMIM:618495
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Pancyto... ORPHA:572
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Recurrent urinary tract infections, Protracted diarrhea, Malab... OMIM:209920
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemopha... OMIM:308240
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Osteomyelitis, ... ORPHA:36234
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Joint swelling, Splenomegaly, Lipogranulomatosis, Decreas... OMIM:228000
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... ORPHA:2619
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Acquired Partial Lipodystrophy
Insulin resistance, Lymphocytosis, Generalized hirsutism ORPHA:79087
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Hirsutism, Oligomenorrhea, Infertility, Acne OMIM:604931
Hemochromatosis, Type 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Art... OMIM:604250
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Legionnaires Disease
Diarrhea, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Nausea and vomiting, Infecti... ORPHA:549
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Increased circulating lactate dehydrogenase concentration, Eczemat... OMIM:617780
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Gordon Holmes Syndrome
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... OMIM:212840
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Th... ORPHA:848
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating lactate dehydrogenase concentration, Elevated circulating aspart... OMIM:614034
Aromatase Deficiency
Insulin resistance, Female infertility, Male infertility, Ambiguous genitalia, female, Type II di... ORPHA:91
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Absence of lymph node germin... ORPHA:277
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Felty Syndrome
Recurrent pneumonia, Limitation of joint mobility, Abnormal joint morphology, Osteolysis, Recurre... ORPHA:47612
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... ORPHA:314478
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Schnitzler Syndrome
Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Arthritis, Anemia, Increased bone mineral de... ORPHA:37748
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Gona... OMIM:400044
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule... ORPHA:69126
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Skin rash, Abnormal macrophage... ORPHA:292
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hirsutism, Polycystic ovaries, Enlarged ... ORPHA:90301
Avian Influenza
Pneumonia, Myelitis, Acute kidney injury, Diarrhea, Hepatitis, Vomiting, Increased circulating la... ORPHA:454836
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Hypogonadism, Decreased testicular size, Primary amenorrhea, Micropenis, Dec... OMIM:614962
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Perlman Syndrome
Hypoplasia of penis, Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Hepatitis, Eczematoid dermatitis, Leukocytosis, ... OMIM:620565
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa... OMIM:602450
Psoriasis 14, Pustular
Polyarticular arthritis, Psoriasiform dermatitis, Leukocytosis, Pustule, Parakeratosis, Oligoarth... OMIM:614204
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytope... OMIM:603552
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis, Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Bloom Syndrome
Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, O... ORPHA:125
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Melioidosis
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent urinary tract infections, Recurrent otitis ... OMIM:307200
Cinca Syndrome
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia... OMIM:607115
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Intermittent... OMIM:620632
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... ORPHA:85435
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Spar... OMIM:146110
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Eosinophilia, Abnormal e... ORPHA:1163
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti... ORPHA:26790
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Clitoral hypertrophy, Long penis, Hypertrichosis,... OMIM:246200
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Increased serum estradiol, Primary amenorrhea, Ab... ORPHA:99429
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti... OMIM:601492
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Immunodeficiency 13
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:615518
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Nephrotic syndrome, P... ORPHA:60
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Gout, Renal cyst, Neutro... OMIM:617056
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:610247
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Premature graying of hair, Splenomegaly, Dysmeno... ORPHA:280365
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Abdomina... OMIM:620376
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Azoospermia, Splenomegaly, Hypogonadotropic hypogon... OMIM:602390
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Familial Mediterranean Fever
Renal amyloidosis, Diarrhea, Erysipelas, Vomiting, Stage 5 chronic kidney disease, Leukocytosis, ... OMIM:249100
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthrit... ORPHA:227990
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... ORPHA:90795
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Palmoplantar hyperkeratosis, Hepatitis ORPHA:363523
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Premature graying of hair, Postprandia... ORPHA:769
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Protracted diarrhea, Lymph... ORPHA:331206
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... OMIM:612964
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... ORPHA:3243
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Abno... ORPHA:440713
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Giant cell hepatitis, Aminoaciduria, Nephrocalcinosis, Elevated gamma-glutamyltransf... OMIM:208085
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia OMIM:614493
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Diabetes mellitus, Cryptorchidism OMIM:615381
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Arthritis, Hepatomegal... ORPHA:42642
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Griscelli Syndrome
Hepatitis, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia OMIM:620195
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Whipple Disease
Insulin resistance, Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Hypothyroidism, Ere... ORPHA:3452
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... ORPHA:391487
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Lesch-Nyhan Syndrome
Anemia, Hematuria, Gout, Renal insufficiency ORPHA:510
Wolman Disease
Vomiting, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly OMIM:620151
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Shigellosis
Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Abscess, Anorexia, Abdominal pain, In... ORPHA:810
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... ORPHA:169154
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Giant cell hepatitis, Nephrocalcinosis, Aminoaciduria, Elevated circulating hepatic ... OMIM:613404
Werner Syndrome
Insulin resistance, Abnormal hair whorl, Premature graying of hair, Hypogonadism, Thyroid carcino... ORPHA:902
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Hepatitis, Hemolytic anemia, Enteroviral encephalitis, Sclerosing cholangitis, Ankle cl... OMIM:308230
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis ORPHA:3165
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased... ORPHA:3464
Immunodeficiency 68
Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Polyembryoma
Irregular menstruation, Increased serum serotonin, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... OMIM:619381
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Absent circulating B cells, Decreased proportion of class-switched memory B cell... OMIM:619705
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... ORPHA:73263
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Recurrent otitis media, Recurrent infection of the gastroin... OMIM:615207
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism, Low anterior hairline, Low posterior hairline ORPHA:73272
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemia, Bronchiect... OMIM:620321
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno... ORPHA:93308
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Muckle-Wells Syndrome
Nephropathy, Nephrotic syndrome, Renal amyloidosis, Camptodactyly of finger, Recurrent aphthous s... ORPHA:575
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Arthritis, Crypt hyperplasia OMIM:613217
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthrit... ORPHA:227982
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... OMIM:615607
Ankylosing Vertebral Hyperostosis With Tylosis
Palmoplantar keratoderma, Osteoarthritis ORPHA:2206
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia ORPHA:375
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Hypoglycemia, Increased circulating... OMIM:615962
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Abnormal circ... ORPHA:79124
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Lichen Planopilaris
Pterygium, Hyperkeratosis, Hepatitis, Abnormal intestine morphology ORPHA:525
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,... OMIM:614602
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Decreased serum leptin, Hyperinsulinemia, Labial hypertrophy, Decreased fer... OMIM:269700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hepatic failur... ORPHA:158057
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... ORPHA:168563
Nail-Patella Syndrome
Thickened glomerular basement membrane, Contracture of the distal interphalangeal joint of the fi... ORPHA:2614
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, L... OMIM:615387
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... ORPHA:85408
Hemochromatosis, Type 1
Alopecia, Increased circulating ferritin concentration, Azoospermia, Glucose intolerance, Splenom... OMIM:235200
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatic failure, Hematochezia, Intrahepatic cholestasis, Elevated circulati... OMIM:214950
Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Elevated... OMIM:300068
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Decreased circulating IgA level, Psoriasiform dermatitis, Decrea... OMIM:617765
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... ORPHA:217390
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... ORPHA:1416
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Bullous Impetigo
Pustule, Glomerulopathy, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hyperte... ORPHA:228426
Hereditary Xanthinuria
Decreased urinary urate, Rheumatoid arthritis, Acute kidney injury, Sulfite oxidase deficiency, R... ORPHA:3467
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat... OMIM:620514
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Coproporphyria, Hereditary
Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... OMIM:121300
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Polycystic ovaries, Sparse hair, Secondary amenorrhea, Hyper... OMIM:268020
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia... OMIM:615122
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Abnormal leukocyte morph... ORPHA:53
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Generalized hirsutism ORPHA:363400
Galactose Epimerase Deficiency
Nausea and vomiting, Splenomegaly, Hepatomegaly, Jaundice, Feeding difficulties ORPHA:79238
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal obstruction, Constrictive ... ORPHA:67
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Recurrent urinary tract infections, Malabsorption, De... ORPHA:83471
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Alstrom Syndrome
Irregular menstruation, Nephritis, Alopecia, Recurrent pneumonia, Insulin-resistant diabetes mell... OMIM:203800
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo... OMIM:610628
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Renal insufficiency, Mesangial hypercellularity, Chronic ... ORPHA:91139
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Glycogen Storage Disease Vii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Reduced erythrocyte 2,... OMIM:232800
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Splenomegaly, Hepatomegaly, Arthritis, Juvenile rheumatoid arthritis, ... ORPHA:85414
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea, Hirsutism OMIM:184700
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Clitoral hypertrophy, Decreased serum leptin, Hyperinsulinemia, Labial hypert... OMIM:608594
Sepsis In Premature Infants
Diarrhea, Increased circulating interleukin 6 concentration, Abdominal distention, Vomiting, Decr... ORPHA:90051
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Pancytopenia, Hypersplenism, Limited elbow extension, Splenom... OMIM:613385
Classic Galactosemia
Hypoglycemia, Cryptorchidism, Abnormal erythrocyte enzyme concentration or activity, Decreased fe... ORPHA:79239
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node OMIM:604864
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia, Retrograde ejaculation, Anemia, Rhinitis ORPHA:230
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:324964
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... OMIM:617718
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Ge... ORPHA:79086
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Recurrent pneumonia, Cryptorchidism, Hirsutism OMIM:214150
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent urinary tract infections, Recurrent otitis media, ... OMIM:300755
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Wolman Disease
Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Abdomina... ORPHA:75233
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Osteomy... ORPHA:781
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Omenn Syndrome
Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ... OMIM:603554
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Abnormality of the kidney, Arthritis, Pericarditis, Abnormal renal physiology OMIM:609939
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ... OMIM:600969
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Glycosuria, Myositis, Hashimoto thyroiditis, Dysphagia, Pure red... ORPHA:589
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... ORPHA:3260
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,... OMIM:620603
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Elevated circulating creatine kinase concentration OMIM:615980
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypog... ORPHA:300373
Spondyloenchondrodysplasia
Pneumonia, Chronic kidney disease, Granuloma, Hepatitis, Pancytopenia, Skin rash, Autoimmune hemo... ORPHA:1855
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... ORPHA:91349
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Polyarticular arthritis, Hepatic amyloidosis, ... OMIM:142680
Tafro Syndrome
Increased circulating interleukin 6 concentration, Ascites, Hepatosplenomegaly, Leukocytosis, Spl... ORPHA:457077
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Periodontitis, Central adrenal insufficiency, Cryptorchidism... ORPHA:739
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonadal dysgenesi... ORPHA:243
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Cranio-Osteoarthropathy
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... ORPHA:1525
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Leukopenia, Acetabular dyspla... OMIM:617303
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormal hair morphology, Abnormality of the ova... ORPHA:3130
Listeriosis
Arteritis, Diarrhea, Abscess, Pustule, Abdominal pain, Jaundice, Endocarditis, Acute kidney injur... ORPHA:533
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Hirsutism, Amenorrhea, Oligomenorrhea, Acne, Menorr... ORPHA:2795
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... ORPHA:98848
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Malabsorption, Renal insufficiency, Skin rash, Nausea and vomiting, Inte... ORPHA:183
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Galactosemia Iii
Hepatomegaly, Jaundice, Vomiting, Splenomegaly OMIM:230350
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Decreased response to growth hormone stimulation test, Hyperin... OMIM:176270
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Neonatal cholestatic liver disease, Splenomegaly, Bil... ORPHA:79301
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Absence of secondary sex characteristics, Non-obstructive az... ORPHA:432
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Protein avoidance, Episodic vomiting, Acute hepatitis, Ho... OMIM:238970
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Joint dislocation, Episcleritis, Skin rash, Splenomegaly, Renal insufficiency, Hematuri... ORPHA:36412
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatic fibrosis, Biliary cirrhosis, H... ORPHA:186
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia OMIM:606069
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Skin rash, Splenomegaly, My... OMIM:617591
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Decreased circulating IgA level, Hyperinsulinemia, Splen... OMIM:613327
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Increased phosphoribosylpyrophosphate synthe... ORPHA:411536
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Harderoporphyria
Increased fecal harderoporphyrin, Vomiting, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonge... OMIM:618892
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Elevated total serum tryptase, Malnutrition, Abn... ORPHA:79456
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Abnormal male external genitalia mo... ORPHA:813
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... OMIM:618213
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Microscopic Polyangiitis
Uveitis, Oliguria, Diarrhea, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Episcleri... ORPHA:727
Wilson Disease
Osteomalacia, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine a... OMIM:277900
Chronic Mucocutaneous Candidiasis
Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Feeding difficulties in infa... ORPHA:1334
Recessive Dystrophic Epidermolysis Bullosa Inversa
Abnormality of the urinary system, Urethral stricture, Gastrointestinal inflammation, Anemia, Eso... ORPHA:79409
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Cutaneous abscess, Eczematoid dermatitis,... OMIM:618131
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive T cells, Lymp... OMIM:301000
Pseudoachondroplasia
Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas... ORPHA:750
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis OMIM:616414
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:793
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency, Arthritis ORPHA:320365
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Cholestasis, Villous atrophy, Malabsorption, Abnormal... ORPHA:95427
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ... ORPHA:75234
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Lymphopenia, Leukocytosis, Renal insuffi... ORPHA:247353
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia ORPHA:99928
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit... ORPHA:2114
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Joint stiffness, L... ORPHA:809
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Vomiting, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:614921
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos... ORPHA:90038
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Dominant Beta-Thalassemia
Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of he... ORPHA:231226
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Neonatal hypogl... ORPHA:90794
Zika Virus Disease
Myelitis, Ankle swelling, Vomiting, Wrist swelling, Skin rash, Infectious encephalitis, Arthritis... ORPHA:448237
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Decreased adiponectin level, Increased C-peptide level, Decreased serum l... OMIM:615238
Alport Syndrome
Thickened glomerular basement membrane, Nephritis, Focal segmental glomerulosclerosis, Glomerular... ORPHA:63
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Arthropathy, Abnormal intestine morph... ORPHA:85446
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Oliguria, Increased circulating lac... ORPHA:514
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Nephrolithiasis, ... OMIM:617321
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Malnutrition, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inade... OMIM:612714
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Neutrophilic infiltration... OMIM:618048
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Apl... OMIM:102700
Familial Mediterranean Fever
Nephropathy, Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdomi... ORPHA:342
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Fusariosis
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple... ORPHA:228119
Hyper-Igd Syndrome
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Ele... OMIM:260920
Paget Disease Of Bone 6
Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Recurrent fractures, O... OMIM:616833
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Diarrhea, Hematochezia, Hepatitis, Pancytopenia... OMIM:615846
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Type II diabetes mellitus, Cryptorchidism, Chronic sinusit... OMIM:606593
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Classic Mycosis Fungoides
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ... ORPHA:2584
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia... ORPHA:1304
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Eczematoid de... OMIM:615895
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Gastric varix, Bronchiectasis, Hepatocellular carcinoma OMIM:613490
Relapsing Polychondritis
Uveitis, Limitation of joint mobility, Hepatitis, Keratitis, Recurrent aphthous stomatitis, Chond... ORPHA:728
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... ORPHA:31205
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea OMIM:614858
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Hydrocolpos, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:620010
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Hemochromatosis, Type 2B
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia OMIM:613313
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperglycemia, Hyperinsulinemia, T... OMIM:151660
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the ankle, Genu valgum, Abnormality of the epiphyses of the elbow, Osteoarthritis,... ORPHA:166002
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Neph... OMIM:104200
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Hypothyroidism, Delayed puberty, Adren... ORPHA:95496
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Cholestasis-Lymphedema Syndrome
Erysipelas, Malabsorption, Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomeg... OMIM:214900
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Supernumerary nipple, Sparse body hair, Absent eyelashes, Trichodysplasia... ORPHA:1809
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Diarrhea, Hepatitis, Celiac disease, Nausea and vomiting, Macrocytic anemia, H... ORPHA:199299
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperi... ORPHA:263455
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Severe Hemophilia A
Gastrointestinal hemorrhage, Limitation of joint mobility, Progressive joint destruction, Joint s... ORPHA:169802
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Absent natural killer cells, Rectovaginal f... ORPHA:35078
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... OMIM:614817
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Ovar... OMIM:269880
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Chole... OMIM:614576
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Bardet-Biedl Syndrome 1
Insulin resistance, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Hirsutism,... OMIM:209900
Rift Valley Fever
Melena, Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious... ORPHA:319251
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... OMIM:618187
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Lym... ORPHA:3226
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Malabsorption, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Monosomy 13Q34
Insulin resistance, Horizontal eyebrow, Metrorrhagia ORPHA:96168
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv... OMIM:269200
Babesiosis
Hepatic failure, Leukopenia, Nausea and vomiting, Splenomegaly, Thrombocytopenia, Anorexia, Hepat... ORPHA:108
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Nausea and vomiting, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutro... ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Osteomyelitis, Hepatomegaly, Hypochromic microcytic anemia, Arthritis, Sept... OMIM:619423
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility OMIM:130020
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal... ORPHA:85450
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Osteochondritis dissecans, Premature osteoarthritis OMIM:165800
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Cirrhosis, Anorexia, Hepatomegaly, Ab... ORPHA:77259
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose into... ORPHA:2457
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Feeding difficulties OMIM:610333
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Gout, Renal insufficiency, ... OMIM:618061
Syndromic Diarrhea
Hepatic fibrosis, Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the... ORPHA:84064
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Ascites, Malabs... ORPHA:131
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Increased phosphoribosylpyrophosphate synthetase level, Renal insufficiency,... ORPHA:411543
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy OMIM:314300
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Takayasu Arteritis
Gastrointestinal infarctions, Increased inflammatory response, Anemia, Arthritis, Anorexia, Infla... ORPHA:3287
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Kawasaki Disease
Diarrhea, Hepatitis, Sterile pyuria, Leukocytosis, Skin rash, Cholecystitis, Nausea and vomiting,... ORPHA:2331
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis ORPHA:2762
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He... OMIM:278000
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Lymphopenia, Cryptorchidism, Hypothyroidism, Micropenis, Anemia, Sparse hair,... OMIM:616541
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Cel... OMIM:301068
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Hip osteoarthritis, Limited hip movement, Joint stiffness, Genu ... OMIM:132400
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Xanthinuria, Type I
Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithiasis, Reduced ... OMIM:278300
Sheehan Syndrome
Central adrenal insufficiency, Decreased serum estradiol, Sparse pubic hair, Breast hypoplasia, D... ORPHA:91355
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchit... ORPHA:32960
Spastic Paraplegia 84, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Crohn's disease, Hip contracture, Ankle clon... OMIM:619621
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome... OMIM:615688
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... OMIM:158330
Melorheostosis
Increased bone mineral density, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis ORPHA:2485
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... ORPHA:39041
Dysspondyloenchondromatosis
Joint dislocation, Genu valgum, Generalized joint hypermobility, Osteoarthritis, Enlarged joints ORPHA:85198
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension,... OMIM:610199
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Clitoral hypertrophy, Cent... ORPHA:508
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... ORPHA:543
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c... OMIM:615862
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Lead Poisoning
Decreased male libido, Imbalanced hemoglobin synthesis, Reduced sperm motility, Abnormality of th... ORPHA:330015
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Pachydermoperiostosis
Gastrointestinal hemorrhage, Peptic ulcer, Limitation of joint mobility, Eczematoid dermatitis, P... ORPHA:2796
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Abdominal distention, Hepatitis, Jejunoileal ulceration, Intestinal malrotati... ORPHA:436252
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina... ORPHA:65681
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti... OMIM:603860
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Skin rash, Abnormal gastric mucosa morphology, Infectious en... ORPHA:779
Gaucher Disease
Pancytopenia, Hematuria, Feeding difficulties in infancy, Cirrhosis, Hepatomegaly, Abdominal pain... ORPHA:355
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... OMIM:608612
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Pyloric stenosis ORPHA:664
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility ORPHA:63442
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Splenomegaly, Portal hypertension, Abnormality ... ORPHA:1414
Alpha-Mannosidosis
Synostosis of joints, Splenomegaly, Arthritis, Hepatomegaly, Chronic otitis media ORPHA:61
Mucopolysaccharidosis Type 7
Hepatitis, Joint stiffness, Epiphyseal stippling, Splenomegaly, Mucopolysacchariduria ORPHA:584
Mccune-Albright Syndrome
Renal phosphate wasting, Gastroesophageal reflux, Hepatitis, Osteomalacia, Cholestasis, Pancytope... ORPHA:562
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Neuropathy, Hereditary Sensory And Autonomic, Type V
Urinary incontinence, Diarrhea, Painless fractures due to injury, Osteomyelitis, Arthropathy, Con... OMIM:608654
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Recurrent hypoglycemia, Splenomegaly, Dysmenorrhea, Elevated circulating ... ORPHA:79240
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Nephrocalcinosis, Diarrhea, Cholelithiasis, Chronic mucocutaneous candidiasis... OMIM:240300
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Neutropenia, ... ORPHA:79477
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Hypergl... ORPHA:79474
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Increased circu... OMIM:617388
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
H Syndrome
Alopecia, Hypertrichosis, Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Azoospermia, Abnor... ORPHA:168569
Overlap Myositis
Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Subluxation of the... ORPHA:206572
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Chronic diarrhea, Recurren... OMIM:601495
Lujo Hemorrhagic Fever
Diarrhea, Lymphopenia, Dysphagia, Increased circulating lactate dehydrogenase concentration, Rena... ORPHA:319213
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Genu valgum, Delayed tarsal ossification, Delayed ossification of carpa... OMIM:607078
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormality of the ankle, Joint hypermobility, Knee osteoarthritis, Oligoar... ORPHA:85410
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha... ORPHA:3162
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Hypoplasia of the thymus, Impaired lymphocyte transf... OMIM:619313
Hydatidiform Mole
Anemia, Enlarged uterus, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Hepatomeg... OMIM:251000
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ... ORPHA:499009
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Amenorrhea, Hypoplasia of the uterus, Mildly elevated creatine ki... OMIM:600705
Amyloidosis, Hereditary Systemic 2
Skin rash, Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia,... ORPHA:906
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal ... OMIM:616828
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Genu valgum, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu varum ORPHA:1822
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Malabsorption, Splenomegal... ORPHA:2930
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Elevated carcinoma antigen 125 lev... ORPHA:370348
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... ORPHA:99867
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Anorexia, Orchitis, Incr... ORPHA:48435
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Limited hip movement, Hip contracture, Abnormality of the knee, Hip subluxati... ORPHA:99642
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hypoglycemia, Splenomegaly, Dysmenorrhea, Elevated circulating creatine k... ORPHA:264580
Hypochondroplasia
Abnormality of the elbow, Genu varum, Osteoarthritis, Joint hypermobility ORPHA:429
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Tubulointerstiti... ORPHA:79259
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly, Po... ORPHA:391
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Dowling-Degos Disease
Hyperkeratotic papule, Acne inversa, Penile freckling, Anal margin squamous cell carcinoma, Arthr... ORPHA:79145
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Osteomyelitis,... ORPHA:29207
Familial Cold Urticaria
Conjunctivitis, Abdominal pain, Nausea and vomiting, Arthritis ORPHA:47045
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Glycogen Storage Disease Ixb
Hepatomegaly, Diarrhea, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Limitation of joint mobility, Recurrent aphthous stomatiti... ORPHA:343
Wolcott-Rallison Syndrome
Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Acute hepatic fa... ORPHA:1667
Wolfram Syndrome 2
Diabetes insipidus, Oligomenorrhea, Primary amenorrhea, Decreased circulating antibody level, Imp... OMIM:604928
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Xerostomia, Gastroesophageal reflux, Malabsorption, Renal insufficiency, Nausea and vom... ORPHA:220393
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Lymphangiectasis OMIM:602579
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Precocious puberty, Premature adrenarche, Decreased response to growth hormon... ORPHA:96182
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Diarrhea, Portal fibrosis, Portal inflammation, Ascites, Malabsorption,... OMIM:602347
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Mildly elevated creatine kinase, Hypoketotic hypoglycemia, Hyperinsulin... ORPHA:71212
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album... ORPHA:90291
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol... ORPHA:92050
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Cholestasis, Genu valgum, Eso... ORPHA:198
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Lymphopenia, Abnormality of the liver, Decreased circulating antibody ... ORPHA:1572
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis ORPHA:1345
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Bardet-Biedl Syndrome
Irregular menstruation, Insulin resistance, Inflammation of the large intestine, Aplasia/Hypoplas... ORPHA:110
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,... OMIM:601847
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Reduced natural ... OMIM:603553
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Gout, Renal insufficiency, Hyperuricosuria, Macroscopic hematur... ORPHA:79233
Chronic Granulomatous Disease
Pyloric stenosis, Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Hepatomegaly,... ORPHA:379
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly OMIM:620296
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux... OMIM:301111
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnor... ORPHA:333
Niemann-Pick Disease, Type A
Vomiting, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Feeding... OMIM:257200
Rheumatic Fever
Anorexia, Nausea and vomiting, Abdominal pain, Constipation, Arthritis, Sinusitis, Myocarditis, N... ORPHA:3099
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal... OMIM:208230
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy OMIM:609981
Sitosterolemia 1
Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Retic... OMIM:210250
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroe... ORPHA:189427
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr... OMIM:232240
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Decreased level of plasminogen, Abnormal fallopian tube ... ORPHA:722
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis OMIM:618398
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... ORPHA:93111
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste... OMIM:259100
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Splenomegaly, Hepatomegaly, Steatorrhea, Jau... OMIM:235555
Short Syndrome
Insulin resistance, Alopecia, Sparse hair, Diabetes mellitus ORPHA:3163
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Increased circulating antibody level, C... OMIM:170100
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Eosinophilia, Pancreatitis, Sinusitis, Dysphagia ORPHA:449427
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis OMIM:301108
American Trypanosomiasis
Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Aganglionic megacolon, Hepatomegaly, ... ORPHA:3386
Moderate Hemophilia A
Gastrointestinal hemorrhage, Limitation of joint mobility, Joint swelling, Hip contracture, Arthr... ORPHA:169805
Vertical Talus, Congenital
Arthritis OMIM:192950
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:614582
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Leptospirosis
Acute kidney injury, Diarrhea, Hepatitis, Nausea and vomiting, Skin rash, Elevated serum transami... ORPHA:509
Polymyositis
Gastrointestinal hemorrhage, Chondrocalcinosis, Gastroesophageal reflux, Elevated circulating ald... ORPHA:732
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Osteomyelitis, Sinusitis, Abnormal renal morphology, Arth... ORPHA:449280
Cinca Syndrome
Leukocytosis, Splenomegaly, Nausea and vomiting, Inflammatory abnormality of the eye, Hepatomegal... ORPHA:1451
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Impaired T cell function, Lymphopenia, Lymph node hypoplasia, Abnormality of B cell ph... OMIM:613179
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Jaundice, Atr... OMIM:619573
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Nephrolithiasis, Conjunctivitis, Duodenal ulcer OMIM:217090
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... ORPHA:98849
Neonatal Lupus Erythematosus
Hepatic failure, Aplastic anemia, Pancytopenia, Malar rash, Abnormality of the liver, Splenomegal... ORPHA:398124
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Hematuria,... ORPHA:95455
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Osteopenia, Renal amyloidosis, Foot joint contracture, IgA deposition in ... ORPHA:79408
Caroli Disease
Cholestasis, Cirrhosis, Anorexia, Hepatomegaly, Jaundice, Abdominal pain, Esophageal varix, Intra... ORPHA:53035
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Joint stiffness, Genu valgum, Abnormal acetabulum morphology, Abnor... ORPHA:166011
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Limited elbow extension, Osteoarthritis, Capitate-hamate fusion OMIM:271650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes ORPHA:90153
Steinert Myotonic Dystrophy
Insulin resistance, Early balding, Male hypogonadism, Cholelithiasis, Alopecia, Decreased respons... ORPHA:273
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hepatic steatosis, Cardiom... OMIM:201475
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urethriti... ORPHA:449395
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Constipa... ORPHA:99745
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi... ORPHA:231222
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Recu... ORPHA:79404
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Early ossification of capital femoral epiphy... OMIM:208500
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, L... OMIM:614162
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormality of the ankle, Anterior uveitis, IgA deposition in the glomerulus,... ORPHA:85438
Gastroesophageal Reflux
Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm OMIM:109350
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Leukopenia, Sple... OMIM:267700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bronchiectasis, Osteoarthritis, Joint hypermobility OMIM:620080
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Inflammation of the large intestine, Female infertility, Abnormality of the ovary, Recu... ORPHA:99413
Mosaic Monosomy X
Alopecia, Inflammation of the large intestine, Female infertility, Abnormality of the ovary, Recu... ORPHA:99228
Monosomy X
Alopecia, Inflammation of the large intestine, Female infertility, Abnormality of the ovary, Recu... ORPHA:99226
Turner Syndrome
Alopecia, Inflammation of the large intestine, Female infertility, Abnormality of the ovary, Recu... ORPHA:881
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased circulating prol... ORPHA:95613
Lyme Disease
Nausea and vomiting, Joint swelling, Infectious encephalitis, Arthritis, Uveitis ORPHA:91546
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis OMIM:619183
Senior-Loken Syndrome 9
Osteopenia, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubu... OMIM:616629
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... ORPHA:199310
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling... OMIM:186580
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Episcleritis, Skin rash, Renal insuffi... ORPHA:761
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Gastroesophageal reflux, Splenomegaly ORPHA:2414
Stickler Syndrome Type 1
Osteoarthritis, Joint hypermobility ORPHA:90653
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Hepatic failure, Cholelithiasis, Villous atrophy, Portal hypertension, Splenome... ORPHA:567983
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... ORPHA:71272
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Reduced natural killer cell count, Unilateral renal agenesis, Diarrhea, Gastroesophag... ORPHA:221139
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Blau Syndrome
Posterior uveitis, Nephropathy, Limitation of joint mobility, Keratitis, Polyarticular arthritis,... ORPHA:90340
Peritoneal Cystic Mesothelioma
Peritonitis, Dyspareunia, Metrorrhagia, Menorrhagia ORPHA:168816
Ulnar Hemimelia
Abnormality of the humeroulnar joint, Carpal synostosis, Limited elbow flexion, Elbow flexion con... ORPHA:93320
Acute Disseminated Encephalomyelitis
Myelitis, Vomiting, Herpes simplex encephalitis, Optic neuritis, Nausea, Viral hepatitis ORPHA:83597
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Hypoglycemia, Ectopic anterior pituitary gland, Hypopituitarism, Dec... ORPHA:90695
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Amenorrhea,... OMIM:110100
Kid Syndrome
Posterior blepharitis, Folliculitis, Acne inversa, Keratitis, Patellar hypoplasia, Palmoplantar k... ORPHA:477
Interstitial Cystitis
Abnormal vagina morphology, Urinary bladder inflammation, Abnormality of the menstrual cycle, Abn... ORPHA:37202
Antisynthetase Syndrome
Joint dislocation, Xerostomia, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocar... ORPHA:81
Placental Insufficiency
Insulin resistance ORPHA:439167
Acute Liver Failure
Acute kidney injury, Diarrhea, Gastrointestinal hemorrhage, Hepatitis, Vomiting, Hepatocellular n... ORPHA:90062
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Keratoconjunctiviti... ORPHA:309031
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Lysinuric Protein Intolerance
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Tubulointerstitial... ORPHA:470
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Splenomegaly, Hepatomegaly, High palate, Decreased circulati... OMIM:605309
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Recurrent otitis media, Horseshoe kidney, Esophagi... OMIM:612562
Acute Lung Injury
Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr... ORPHA:178320
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Alkaptonuria
Elevated urinary homogentisic acid, Limited hip movement, Decreased glomerular filtration rate, D... OMIM:203500
Adiposis Dolorosa
Diarrhea, Xerostomia, Constipation, Arthritis, Recurrent skin infections ORPHA:36397
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Limitation of joint mobility, Polyarticular arthritis, Sacroiliac arthritis, Abnormality... ORPHA:85436
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Abdom... OMIM:215600
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Rickets, Osteomalacia, Hepatosplenomegaly, Genu valgum, Hypophosphatemic... OMIM:307800
Multiple Epiphyseal Dysplasia Type 5
Premature osteoarthritis, Limited hip movement, Genu valgum, Joint stiffness, Intervertebral disk... ORPHA:93311
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Dermatoosteolysis, Kirghizian Type
Keratitis, Abnormality of the wrist, Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Roifman-Chitayat Syndrome
Pneumonia, Osteopenia, Ectopic kidney, Arthritis OMIM:613328
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi... ORPHA:371428
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Gastrointestinal infarctions, Coombs-positive hemolytic anemia... ORPHA:464343
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... OMIM:619708
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circulating interfe... ORPHA:542323
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Anorexia, Abdominal pain, Jaundice,... ORPHA:99826
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Glucose intolerance, Hirsutism, Oligomenorrh... OMIM:219090
Systemic Lupus Erythematosus
Discoid lupus rash, Anorexia, Leukopenia, Malar rash, Hematuria, Proteinuria, Lupus nephritis, Ar... ORPHA:536
Feingold Syndrome Type 1
Nephritis, Duodenal atresia, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Jejuna... ORPHA:391641
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Sparse scalp hair, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia... OMIM:248370
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Graves disease, Glucose intolerance, Type II diabet... ORPHA:358
Coccidioidomycosis
Pneumonia, Folliculitis, Granuloma, Morbilliform rash, Osteomyelitis, Abnormality of the spleen, ... ORPHA:228123
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis ORPHA:314473
Cushing Disease
Acne, Sparse scalp hair, Increased circulating cortisol level, Pituitary corticotropic cell adeno... ORPHA:96253
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... ORPHA:228302
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca OMIM:270150
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Laron Syndrome
Hypoplasia of penis, Osteoarthritis, Abnormality of the elbow ORPHA:633
Hand-Foot-Genital Syndrome
Pyelonephritis, Renal insufficiency, Ureteropelvic junction obstruction, Vesicoureteral reflux, C... OMIM:140000
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Rheumatoid arthritis, Psoriasiform dermatitis, Renal insu... ORPHA:49041
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ... ORPHA:556
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... ORPHA:2908
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Bowel diverticulosis, Recurrent sinusitis, Joint hypermobility, Osteoarthritis... OMIM:130000
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Localized Scleroderma
Gastroesophageal reflux, Fasciitis, Sclerosis of finger phalanx, Esophagitis, Hashimoto thyroidit... ORPHA:90289
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Scleri... ORPHA:93126
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, Duodenal ulc... OMIM:147060
Behçet Disease
Nausea and vomiting, Anorexia, Abdominal pain, Endocarditis, Gastrointestinal hemorrhage, Malabso... ORPHA:117
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Alopecia, Abnormal hair morphology, Nail dystrophy, Delayed puberty ORPHA:90154
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Increased circulating procalcitonin concen... ORPHA:33475
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... OMIM:300972
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix OMIM:616589
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Cryptorchidism, Infectious encephalitis ORPHA:1194
Scrub Typhus
Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Anterior uveitis ORPHA:83317
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Diarrhea, Hematuria, Acute tubulointerstitial nephritis, Glomerulonephrit... ORPHA:340
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged platelet dens... OMIM:608233
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Joint subluxation, Multiple bladder diverticula, Urethral diverticulum, Smal... ORPHA:90349
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... OMIM:137920
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Acne, Osteoarthritis ORPHA:77296
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Metrorrhagia, Absent platelet dense granules, Thromboc... OMIM:614074
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Ascites... OMIM:306400
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Splenomegaly, Increased circulating antibody l... OMIM:181000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Microcolon, Anuria, Megacystis, Ileal atresia, Pyelonephritis, ... OMIM:619351
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu recurvatum, Ulnar deviation of the wrist, Genu valgum, Limi... OMIM:177170
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Increased circulating cortisol level, Abnormal lymph node morphology, Increase... ORPHA:99889
Hereditary Hyperekplexia
Gastroesophageal reflux, Joint dislocation, Joint stiffness, Esophagitis, Hiatus hernia, Hip disl... ORPHA:3197
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Abdominal p... ORPHA:33577
Polycythemia Vera
Early satiety, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomeg... ORPHA:729
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Multiple joint dislocation, Hip subluxation, Elbow flexion contr... ORPHA:93360
Chikungunya
Diarrhea, Vomiting, Joint stiffness, Skin rash, Maculopapular exanthema, Joint swelling, Crusting... ORPHA:324625
Atelis Syndrome 2
Anemia, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Thrombo... OMIM:620185
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Microcytic anemia, Recurrent otitis media, Increased circulating antib... OMIM:256040
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230800
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chron... ORPHA:169090
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Arteritis, Acne inversa, Hypoglycemia, Herpes simplex encephalitis, Recur... OMIM:233600
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, Hepatomegaly, Stomatitis OMIM:612852
Desbuquois Dysplasia 1
Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal dislocation, Ost... OMIM:251450
Giant Cell Arteritis
Hepatic failure, Gastrointestinal infarctions, Joint stiffness, Renal insufficiency, Hematuria, A... ORPHA:397
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Stickler Syndrome, Type I
Joint stiffness, Joint hypermobility, Arthropathy, Osteoarthritis, Arthritis OMIM:108300
Hemophilia B
Gastrointestinal hemorrhage, Hematuria, Hematemesis, Osteoarthritis, Melena, Joint hemorrhage OMIM:306900
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Hermansky-Pudlak Syndrome 1
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia OMIM:203300
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J... OMIM:618000
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Pancytopenia, Hematuria, Anorexia, Abdominal pain, Dysphagia, Gastroesophag... ORPHA:99921
Gray Platelet Syndrome
Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia OMIM:139090
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Fabry Disease
Nephropathy, Malabsorption, Renal insufficiency, Nausea and vomiting, Hematuria, Proteinuria, Glo... ORPHA:324
Behcet Syndrome
Iridocyclitis, Erythema nodosum, Arthritis, Decreased level of D-mannose in urine, Epididymitis, ... OMIM:109650
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Gastroesophageal reflux, Joint dislocation, Rickets, Osteomalacia, Abnormal joint mor... ORPHA:1901
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal... OMIM:214500
Liver Disease, Severe Congenital
Dry hair, Recurrent otitis media, Hypospadias, Hypoproteinemia, Eczematoid dermatitis, Chronic ga... OMIM:619991
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria, Limitation of joint mobility, Rickets, Sacroiliac joint s... ORPHA:89936
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Dystrophic toenail, Delayed menarche, Alopecia totalis, Loss of eyelashes, Dy... ORPHA:740
Alström Syndrome
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hepatosplenomegaly,... ORPHA:64
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased proporti... OMIM:208900
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormality of the menstrual cycle ORPHA:90308
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:50918
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Alkaptonuria
Aminoaciduria, Joint dislocation, Elevated urinary homogentisic acid, Joint stiffness, Hemolytic ... ORPHA:56
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Ascites, High palate, Necrotizing entero... OMIM:606812
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Abnormal scrotum morphology, Splenomegaly, Hirsutism, G... ORPHA:354
Beta-Thalassemia Major
Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of he... ORPHA:231214
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Erythroid hypoplasia, Hy... OMIM:612541
Otospondylomegaepiphyseal Dysplasia
Limitation of joint mobility, Abnormal joint morphology, Enlarged joints, Osteoarthritis, Abnorma... ORPHA:1427
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... OMIM:277000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Hypoglycemia, Ectopic anterior pituitar... ORPHA:95494
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Hepatic failure, Stage 5 chronic kidney disease, Hepatic calcification, Episodic... ORPHA:157
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Osteomalacia, Genu valgum, Hematuria, Feeding difficulties in infancy, Patellar di... ORPHA:534
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Vomiting, Periportal fibrosis, Micronod... OMIM:251880
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Hypospadias, Gastroesophageal reflux, Feeding difficulties ORPHA:79350
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Pmm2-Cdg
Hypoalbuminemia, Insulin resistance, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:79318
Gaucher Disease, Type Ii
Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Protuberant abdomen, Anemi... OMIM:230900
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... OMIM:208540
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Abnormal hemoglobin, Cryptorchidism, Infectious encephalitis, ... ORPHA:847
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Hemophilia A
Joint hemorrhage, Hematemesis, Osteoarthritis, Melena OMIM:306700
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective production of NFKB1-de... OMIM:612132
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Hepatic failure, Dicarboxylic aciduria, Feeding difficulties, Renal insufficienc... ORPHA:228308
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Hematuria, Sagittal craniosynostosis, Proteinuria OMIM:616901
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Genu valgum, Proteinuria, Tubuloint... ORPHA:488627
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Peptic ulcer, Increased mean corpuscular hemogl... ORPHA:90041
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Limitation of joint mobility, Skin rash, Myositis, Constipation, Art... ORPHA:93672
Achalasia, Familial Esophageal
Rheumatoid arthritis, Xerostomia, Achalasia, Keratoconjunctivitis sicca OMIM:200400
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Joint hypermobilit... ORPHA:93352
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Elbow dislocation, Renal age... ORPHA:2538
Hyperlipoproteinemia, Type I
Vomiting, Hepatosplenomegaly, Splenomegaly, Episodic abdominal pain, Jaundice, Nausea, Acute panc... OMIM:238600
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Osteoarthritis OMIM:602111
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Incontinentia Pigmenti
Alopecia, Keratitis, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, Skin ras... ORPHA:464
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Ascites, Cholecystitis, Jaundice, Abdominal pain,... ORPHA:69665
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Sparse scalp hair, Glucose intolerance, Recurrent p... OMIM:606721
Meige Disease
Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infections, Absence of... ORPHA:90186
Nipah Virus Disease
Infectious encephalitis ORPHA:99825
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Riddle Syndrome
Pneumonia, Enuresis nocturna, Recurrent pneumonia, Diarrhea, Otitis media, Recurrent sinusitis, C... ORPHA:420741
Dermatomyositis
Abnormal eosinophil morphology, Chondrocalcinosis, Increased circulating lactate dehydrogenase co... ORPHA:221
Familial Thrombocytosis
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis ORPHA:71493
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme... OMIM:263200
Cerebral Visual Impairment
Neonatal hypoglycemia, Infectious encephalitis ORPHA:447788
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomeg... OMIM:613471
Dysbetalipoproteinemia
Gout, Hepatic steatosis, Renal steatosis, Hepatomegaly, Acute pancreatitis ORPHA:412
Tubulointerstitial Nephritis And Uveitis Syndrome
Scleritis, Anorexia, Tubulointerstitial nephritis, Abdominal pain, Aminoaciduria, Beta 2-microglo... ORPHA:91500
Autosomal Dominant Cutis Laxa
Genu recurvatum, Osteopenia, Hip dislocation, Unilateral renal agenesis, Vomiting, Small bowel di... ORPHA:90348
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Idiopathic Camptocormia
Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response ORPHA:1320
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Stiff ankle, Elbow flexion contracture, Premature osteoarthritis, D... ORPHA:93307
Alexander Disease
Precocious puberty, Hypothyroidism, Diabetes mellitus, Infectious encephalitis ORPHA:58
African Trypanosomiasis
Alopecia, Myelitis, Keratitis, Abnormality of the menstrual cycle, Hepatosplenomegaly, Splenomega... ORPHA:3385
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, He... ORPHA:51
Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Urolithiasis, Gout, Renal insufficiency, ... OMIM:300661
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Esophagitis ORPHA:3348
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Patellar dislocation, Hypospadias, Polycystic kidney dysplasia, ... ORPHA:567
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Camptodactyly, Sagittal craniosynostosis, Abnormality of the kidney, Tubulointerstitial nephritis... ORPHA:459061
Neurocutaneous Melanocytosis
Generalized hirsutism, Infectious encephalitis ORPHA:2481
Lysinuric Protein Intolerance
Diarrhea, Vomiting, Hemophagocytosis, Malnutrition, Leukopenia, Splenomegaly, Hepatomegaly, Prote... OMIM:222700
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Flexion contracture, Recurrent pneumonia, Enlarged joints OMIM:215150
Isolated Biliary Atresia
Periportal fibrosis, Decreased liver function, Cholestasis, Atretic gallbladder, Splenomegaly, Pr... ORPHA:30391
Sarcoidosis
Erythema nodosum, Tubulointerstitial nephritis, Hepatomegaly, Renal insufficiency, Increased T ce... ORPHA:797
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Splenomegaly, Increased circulating IgA lev... ORPHA:29073
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal enchondral ossification, Premature osteoarthritis, Abno... ORPHA:93314
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Nocardiosis
Pneumonia, Lymphadenitis, Brain abscess, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious ... ORPHA:31204
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin... OMIM:124000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Anorexia, Neutr... ORPHA:99827
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Abnormality of alkaline phosphatase level, Osteoarthritis, Ivory epiphyses of the dis... OMIM:190350
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatic failure, Acute hepatic failure, Ascites, Splenomegaly, Pancr... OMIM:276700
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly OMIM:231005
Japanese Encephalitis
Increased circulating antibody level, Infectious encephalitis, Neutrophilia, Inappropriate antidi... ORPHA:79139
Loeys-Dietz Syndrome 5
Joint hypermobility, Hiatus hernia, Eosinophilic infiltration of the esophagus, Osteoarthritis, C... OMIM:615582
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Os... ORPHA:642
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Abnormality of the urinary system, Gastroesophagea... ORPHA:1199
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Pyelonephritis, Renal insufficiency, Renal hypoplasia OMIM:181270
Multiple Osteochondromas
Limitation of joint mobility, Urinary retention, Talipes valgus, Limited hip movement, Genu valgu... ORPHA:321
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Marshall Syndrome
Genu valgum, Osteoarthritis ORPHA:560
Mucopolysaccharidosis Type 2, Severe Form
Limitation of joint mobility, Camptodactyly of finger, Heparan sulfate excretion in urine, Hepato... ORPHA:217085
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Increased urinary cortisol lev... ORPHA:913
Mucopolysaccharidosis Type 2, Attenuated Form
Limitation of joint mobility, Camptodactyly of finger, Heparan sulfate excretion in urine, Hepato... ORPHA:217093
Osteogenesis Imperfecta
Osteopenia, Fractures of the long bones, Genu valgum, Reduced bone mineral density, Increased sus... ORPHA:666
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Gastric hypertrophy, Osteolytic defects of the phalanges of the hand, Arthri... OMIM:161700
Cranioectodermal Dysplasia 1
Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic failure, Hepatic fibros... OMIM:218330
Tetrasomy 9P
Joint dislocation, Recurrent urinary tract infections, Horseshoe kidney, Glue ear, Absent gallbla... ORPHA:3310
Poliomyelitis
Absent tonsils, Myelitis, Infectious encephalitis ORPHA:2912
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Inflammation of the large intestine, Myeloproliferative disorder ORPHA:70591
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hypermobil... OMIM:619656
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... OMIM:617137
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Classical Ehlers-Danlos Syndrome
Osteopenia, Gastroesophageal reflux, Vomiting, Shoulder dislocation, Joint swelling, Chronic cons... ORPHA:287
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Granuloma, Infectious encephalitis, Pustule, Abnormali... ORPHA:68
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Synovitis, Cubitus valgus, Feeding difficulties in infancy, Ame... OMIM:163950
Choreoacanthocytosis
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... ORPHA:2388
Hypermobile Ehlers-Danlos Syndrome
Gastroesophageal reflux, Limitation of joint mobility, Elbow dislocation, Joint dislocation, Oste... ORPHA:285
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Camptodactyly of finger, Recurrent otitis media, Recurrent urinary tract infections, ... ORPHA:3455
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Insulinoma, Esophagitis, Zollinger-Ellison syndrome, Pancreatic islet cel... OMIM:131100
Aspartylglucosaminuria
Joint stiffness, Aspartylglucosaminuria, Malabsorption, Splenomegaly, Arthritis, Hepatomegaly, Ch... ORPHA:93
Hunter-Macdonald Syndrome
Joint contracture of the hand, Delayed cranial suture closure, Premature osteoarthritis, Cubitus ... OMIM:611962
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper... ORPHA:284984
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr... ORPHA:580
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Myositis, Keratoconjunctivitis sicca, Thrombocytopenia, Tubulointerstitial nephritis,... ORPHA:79078
Stickler Syndrome
Gastroesophageal reflux, Joint dislocation, Genu valgum, Joint hypermobility, Feeding difficultie... ORPHA:828
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Xerostomia, Vesicoureteral reflux, Hydronephrosis, Keratoconjunctivitis, Kerato... ORPHA:2363
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Cysticercosis
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... ORPHA:1560
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion... ORPHA:2152
Loeys-Dietz Syndrome 3
Osteopenia, Hip osteoarthritis, Cystocele, Osteochondritis dissecans, Intervertebral disk degener... OMIM:613795
Acromegaly
Acne, Long penis, Wide penis, Joint swelling, Osteoarthritis, Dysuria ORPHA:963
Marfan Syndrome
Genu recurvatum, Premature osteoarthritis, Limited elbow extension, Joint hypermobility, Camptoda... OMIM:154700
Somatomammotropinoma
Dysuria, Joint swelling, Osteoarthritis ORPHA:314769
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Periodontitis, Joint dislocation, Gastrointestinal infarctions, Cysto... ORPHA:286

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 Tnfaip3

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 Tnfaip3.

No publications found that use IMPC mice or data for Tnfaip3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tnfaip3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tnfaip3tm39957(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tnfaip3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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