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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

Order Alleles

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
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria,... ORPHA:536

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Decreased circula... OMIM:619281
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Estrogen Resistance
Increased circulating osteocalcin level, Acne, Impaired glucose tolerance, Hyperinsulinemia, Incr... OMIM:615363
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... OMIM:615767
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br... OMIM:617638
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid derm... OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... OMIM:613101
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pri... OMIM:604367
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... OMIM:604416
Estrogen Resistance Syndrome
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro... ORPHA:785
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Low anterior hairline, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic... OMIM:616033
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Nephritis, Eleva... OMIM:603909
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Fe... ORPHA:98813
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Pancreatitis ORPHA:79084
Autoinflammatory-Pancytopenia Syndrome
Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Int... OMIM:619858
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Insulin resis... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Splenomegaly, Insulin resistance, Primary amenorrhea, Hepatosplenomegaly, Hirs... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-resistant diabet... ORPHA:79085
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Congenital Atransferrinemia
Arthritis, Anemia, Abnormality of the pancreas ORPHA:1195
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Elevated circulating creatine kinase concent... ORPHA:435660
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... ORPHA:79083
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Hepato... ORPHA:169160
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... OMIM:619126
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... ORPHA:567544
Graft Versus Host Disease
Myositis, Fasciitis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Acute hepat... ORPHA:39812
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... OMIM:301074
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased circulating IgG level, Leukopenia, Glucose in... ORPHA:2298
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... OMIM:152700
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Chronic d... OMIM:304790
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Increased circulating lactate dehydrogenase concen... ORPHA:158061
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ... OMIM:607594
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal diabetes, Reactive hypoglyce... ORPHA:324575
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... OMIM:620282
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio... OMIM:618459
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia OMIM:616941
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Dysmenorrhea, Splenomegaly, Insulin resistance, Secondary amenorrhea, Polycyst... ORPHA:2348
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Oligomenorrhea OMIM:613877
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Abdominal pai... ORPHA:829
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal... ORPHA:100025
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Abnormal testis m... ORPHA:791
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ... ORPHA:182050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Skin rash, Feeding difficulties in infancy, Splenomegaly, Secretor... OMIM:616050
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin ra... ORPHA:540
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Lymphadeni... OMIM:618935
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Galactokinase Deficiency
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, ... ORPHA:79237
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Flexion contract... ORPHA:231
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... ORPHA:397596
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Recurr... ORPHA:47
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Type I diab... ORPHA:276580
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T ly... OMIM:616433
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia ORPHA:3327
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... ORPHA:2619
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Lymph... OMIM:209950
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... ORPHA:37042
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Fasting hypoglycemia, Type I d... ORPHA:276575
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi... ORPHA:2686
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Vomiting, Nephritis, Abdominal pain, Nephrotic syndrome, Microangiopathic h... ORPHA:93552
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aph... OMIM:611762
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... ORPHA:91138
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diar... OMIM:618495
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep... ORPHA:36234
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy... ORPHA:77297
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul... OMIM:228000
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... OMIM:209920
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Acquired Partial Lipodystrophy
Insulin resistance, Lymphocytosis, Generalized hirsutism ORPHA:79087
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Perlman Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Cortisone Reductase Deficiency 1
Alopecia, Acne, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei... OMIM:614034
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Absence of pubertal deve... OMIM:212840
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Splenome... ORPHA:47612
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem... OMIM:617780
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Diarrhea,... ORPHA:277
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hemochromatosis, Type 3
Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner... ORPHA:848
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Legionnaires Disease
Nausea and vomiting, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, Sp... ORPHA:549
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis... OMIM:616005
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Arthritis, A... ORPHA:37748
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... ORPHA:314478
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Tube feeding, Villous atrophy, Eczema, Chronic diarrhea, Oligoar... OMIM:619510
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Limitation of joint mobili... ORPHA:69126
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cholestasis, Ane... ORPHA:292
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Bloom Syndrome
Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-positive T ce... ORPHA:125
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Alstrom Syndrome
Alopecia, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to growth ... OMIM:203800
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoar... OMIM:614204
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Ost... ORPHA:139507
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Primary amenorrhea, Hypogonadism, Micropenis, Decrea... OMIM:614962
Junctional Epidermolysis Bullosa Inversa
Abnormality of the urinary system, Palmoplantar keratoderma, Anemia, Gastrointestinal inflammation ORPHA:79405
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis OMIM:120100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomegaly, Arthriti... OMIM:607115
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Abdominal pain, Diarrhea, Hepatitis, Leukopenia, Conjun... ORPHA:454836
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concentration, Arthri... OMIM:602390
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic hypoglycemia, H... ORPHA:276556
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... OMIM:601492
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... OMIM:246200
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious... ORPHA:391487
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Dysmenorrhea, Splenomegal... ORPHA:280365
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro... OMIM:617056
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... OMIM:308240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P... OMIM:249100
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... ORPHA:99429
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... ORPHA:769
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Le... ORPHA:381
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Flexion contracture, Hepatitis, Hypochromic microcytic ... ORPHA:440713
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Late-Onset Junctional Epidermolysis Bullosa
Abnormality of the urinary system, Palmoplantar keratoderma, Anemia, Gastrointestinal inflammation ORPHA:79406
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis... OMIM:240500
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia OMIM:614493
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Palmoplantar hyperkeratosis ORPHA:363523
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia OMIM:620195
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Vomiting, A... ORPHA:2552
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Arthritis, Infect... ORPHA:42642
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, I... ORPHA:227990
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Splenomegaly, Diarrhea, Hepatitis, Chro... OMIM:308230
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... OMIM:307200
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephrop... OMIM:613404
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout, Anemia ORPHA:510
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Abnormality of the kidney, Keratitis, Bronchie... ORPHA:1163
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent ... OMIM:619705
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... ORPHA:85435
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Acne, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Fa... ORPHA:247768
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neo... ORPHA:171
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Whipple Disease
Pericarditis, Myositis, Myocarditis, Splenomegaly, Mediastinal lymphadenopathy, Insulin resistanc... ORPHA:3452
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the urinary system, Palmoplantar keratoderma, Anemia, Gastrointestinal inflammation ORPHA:79411
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis ORPHA:3165
Werner Syndrome
Sparse scalp hair, Abnormal hair whorl, Insulin resistance, Decreased fertility, Secondary amenor... ORPHA:902
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Recurrent sinusitis, Chronic ... OMIM:615207
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone st... ORPHA:3464
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati... ORPHA:180229
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, I... ORPHA:227982
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Palmoplantar keratoderma ORPHA:2206
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Co... OMIM:614602
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior hairline, Hypogonadism ORPHA:73272
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Fulminant hepatitis, Jaundice... OMIM:618549
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Insulin resistance, Diabetes mellitus, Cryptorchidism OMIM:615381
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Uve... ORPHA:575
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash, An... OMIM:620321
Lichen Planopilaris
Hyperkeratosis, Pterygium, Abnormal intestine morphology, Hepatitis ORPHA:525
Immunodeficiency 61
Frequent Giardia lamblia infestation, Malabsorption, Arthritis, Colon cancer, Recurrent sinusitis... OMIM:300310
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... ORPHA:2614
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis, Anemia ORPHA:375
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating f... OMIM:235200
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoar... ORPHA:85408
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Prima... OMIM:600955
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... OMIM:618986
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Decreased fertility in femal... OMIM:269700
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ... ORPHA:53
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Androgen Insensitivity Syndrome
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... OMIM:300068
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Insulin resistance, Recurrent pneumonia, Hirsutism OMIM:214150
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent skin infections, Splenomegaly, Cleft pal... OMIM:620210
Hereditary Xanthinuria
Arthropathy, Crystalluria, Reduced xanthine dehydrogenase level, Recurrent urinary tract infectio... ORPHA:3467
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... ORPHA:93308
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia OMIM:615010
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis, Glomerulopathy ORPHA:36237
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Aplasia of ... ORPHA:83471
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Polycy... OMIM:268020
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties ORPHA:79238
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Wilson Disease
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hemolytic anem... OMIM:277900
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype... OMIM:615387
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Vomiting, Hepatic steatosis OMIM:614480
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Generalized hirsutism ORPHA:363400
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Viral hepatitis, Pericarditis, Membranoproliferative g... ORPHA:91139
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... ORPHA:228426
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Abnormal sacroiliac joint... ORPHA:324964
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... OMIM:617718
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,... ORPHA:67
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... ORPHA:276
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Insulin ... ORPHA:813
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis,... OMIM:300755
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Prader-Willi Syndrome
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro... OMIM:176270
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... OMIM:232800
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Dysphagia, Rheumatoid arthritis, Gl... ORPHA:589
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Abnormality of the kidney, Arthritis, Malar rash, Abnormal renal physiology OMIM:609939
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Acquired Generalized Lipodystrophy
Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Po... ORPHA:79086
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Liver abscess, Cholangitis, Pneumoni... ORPHA:183675
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, Sp... OMIM:608594
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... OMIM:600969
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Splenomegaly, Leukocytosis, Jaun... ORPHA:90051
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... ORPHA:75233
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Retrograde ejaculation, Rhinitis, Anemia ORPHA:230
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Elevated circulating creatine kinase concentration OMIM:615980
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Feeding difficultie... OMIM:613385
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoimmune thromboc... ORPHA:1855
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development... OMIM:610628
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Listeriosis
Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv... ORPHA:533
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Recurrent pneumonia, Enlarged kidne... OMIM:617303
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Vomiting OMIM:230350
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Abdomina... OMIM:142680
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... ORPHA:507
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Ankle swelling, Ab... ORPHA:3260
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Ameno... ORPHA:2795
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Proteinuria, Abdominal pain, Myocarditis, Leukocyto... ORPHA:2331
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... OMIM:617253
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Decreased liver function, Acute hepatitis, Episodic vomiting, Ho... OMIM:238970
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophili... ORPHA:183
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Primary Biliary Cholangitis
Portal hypertension, Celiac disease, Abdominal distention, Jaundice, Osteoporosis, Hepatitis, Bil... ORPHA:186
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Flexio... OMIM:617591
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Sapho Syndrome
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... ORPHA:793
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Inflammation of the large intestine, Absent microvilli on the surface of ... OMIM:301000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Splenomegaly, Insulin resistance, Recurrent p... OMIM:613327
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... ORPHA:750
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Glomerulopathy... ORPHA:727
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Esophageal varix, Cirrhosis,... ORPHA:75234
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Recessive Dystrophic Epidermolysis Bullosa Inversa
Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Abnormality of the urina... ORPHA:79409
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabetic ketoacidosi... OMIM:615238
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Skin rash, Feeding difficulties in infancy, Cheilitis, Hepati... ORPHA:1334
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Episcleritis, Hepatomegaly, Glomerulopathy, Skin rash, Renal insufficiency, Pr... ORPHA:36412
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... ORPHA:809
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic ... OMIM:214900
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... OMIM:619693
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... ORPHA:79124
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Renal insufficiency, Pustule, Leukocytosis, Cheilitis, Uveitis, Ar... ORPHA:247353
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Leukocytosis, Schistocyto... ORPHA:90038
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, Vo... ORPHA:448237
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita... ORPHA:90794
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Anorexia, Leukocytosis, Oliguria, Lymphocytosis, Hypoch... ORPHA:514
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Wild Type Abeta2M Amyloidosis
Arthropathy, Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Arthritis, Abnormal inte... ORPHA:85446
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Hypoglycemia, Frontal balding, Preco... ORPHA:786
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep... ORPHA:411536
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Nephrocalcinosis, Osteoarthritis, Recurr... OMIM:616833
Brucellosis
Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Vomiting, Inf... ORPHA:1304
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Abdominal pain, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarrhea... OMIM:615895
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarr... OMIM:260920
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:102700
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Increased circulating insulin-like... ORPHA:99725
Fusariosis
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... ORPHA:228119
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Insulin resistance, Sparse hair, Micropenis, Lymphopenia, Hypo... OMIM:616541
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation, Abnormality of the urinary system, Palmoplantar keratoderma, Hyper... ORPHA:79410
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna... ORPHA:728
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Arthritis, Urinary incontinence ORPHA:320365
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hepatomegal... OMIM:615846
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal... OMIM:618078
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... OMIM:606367
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... OMIM:269880
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... ORPHA:166002
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity OMIM:616414
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinem... OMIM:151660
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Splenomegaly, Chronic diarrhea, Decreased specific anti-polysaccharid... OMIM:614576
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... ORPHA:289390
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... ORPHA:730
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... ORPHA:1809
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul... ORPHA:263455
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Anorexia, Ab... ORPHA:77259
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Cryptorchidism, Low anterior hairline, Acute lymphoblastic... OMIM:606593
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphad... ORPHA:3226
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr... OMIM:278300
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophageal reflux, Neutropenia, Chro... ORPHA:443811
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Gastric varix, Cirrhosis OMIM:613490
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Dependency on intravenous nutrition, Gastritis, Increased mean pla... ORPHA:84064
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Eosinophilia, Anorexia, Abdominal pain... ORPHA:199299
Severe Hemophilia A
Gastrointestinal hemorrhage, Limb joint contracture, Limitation of joint mobility, Synovitis, Joi... ORPHA:169802
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Feeding difficulties, ... ORPHA:79312
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Abdominal distention, Hypochromic microcytic anemia, Arthritis, Sept... OMIM:619423
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car... OMIM:232220
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa... ORPHA:85450
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Hypoglycemia, Adrenal hypoplasia, Hypothyroidis... ORPHA:95496
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Monosomy 13Q34
Insulin resistance, Metrorrhagia, Horizontal eyebrow ORPHA:96168
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Uveitis, An... ORPHA:319251
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Mandibuloacral Dysplasia
Alopecia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose into... ORPHA:2457
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feeding difficulties, Thrombocytopenia OMIM:610333
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance,... OMIM:209900
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc... ORPHA:824
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Melorheostosis
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Spastic Paraplegia 84, Autosomal Recessive
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Ankle clonus, Urinary urgen... OMIM:619621
Takayasu Arteritis
Increased inflammatory response, Anorexia, Arthritis, Gastrointestinal infarctions, Inflammatory ... ORPHA:3287
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue ORPHA:2762
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithiasis, I... ORPHA:411543
Babesiosis
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Leukopenia... ORPHA:108
Familial Mediterranean Fever
Acute hepatic failure, Osteoarthritis, Nephrocalcinosis, Gastrointestinal infarctions, Nephropath... ORPHA:342
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Fasciitis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S... ORPHA:32960
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin co... ORPHA:465508
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste... OMIM:132400
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra... OMIM:158330
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans OMIM:165800
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Hepatic st... OMIM:278000
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Sagittal craniosynostosis, Portal hypertension, Pancreatic cysts, Splen... OMIM:610199
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis,... ORPHA:39041
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum ORPHA:85198
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... OMIM:615862
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Abdominal distentio... ORPHA:436252
Leprechaunism
Facial hypertrichosis, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Lo... ORPHA:508
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Seborrheic dermatit... ORPHA:2796
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis OMIM:105200
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly, Arthritis, Chronic otitis media, Synostosis of joints ORPHA:61
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne... OMIM:603860
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh... ORPHA:2930
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Abdo... OMIM:615688
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Reynolds Syndrome
Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Ker... ORPHA:779
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Pyloric stenosis ORPHA:664
Lead Poisoning
Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Increased circulating IgE... ORPHA:330015
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intoleranc... OMIM:608612
Mccune-Albright Syndrome
Pancytopenia, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Hepatitis, Cholestasis, Hepat... ORPHA:562
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulatin... ORPHA:370348
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... ORPHA:1414
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Splenomeg... ORPHA:79240
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... OMIM:301220
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... OMIM:251000
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia ORPHA:99927
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Urinary incontinence, Osteoarthritis, Diarrhea, ... OMIM:608654
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridocyclitis, Diarrhea, C... OMIM:240300
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Alopecia... ORPHA:79474
Overlap Myositis
Elevated hepatic transaminase, Subluxation of the small joints of the hand, Abnormality of the ki... ORPHA:206572
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... OMIM:607078
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Mucopolysaccharidosis Type 7
Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Mucopolysacchariduria ORPHA:584
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... ORPHA:96182
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Diarrhea, Increased hepatic glycogen content OMIM:261750
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
H Syndrome
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Psoriasiform dermatitis, Microcytic ane... ORPHA:168569
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Abnormal erythroc... ORPHA:264580
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Crohn's disease, Bronchiectasis, Hypochromic microcytic anemia OMIM:619632
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha... ORPHA:79477
Gaucher Disease
Osteopenia, Joint dislocation, Feeding difficulties in infancy, Osteoarthritis, Hepatomegaly, Inc... ORPHA:355
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho... OMIM:619313
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... ORPHA:99642
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Satoyoshi Syndrome
Alopecia, Hypoplasia of the uterus, Mildly elevated creatine kinase, Alopecia universalis, Amenor... OMIM:600705
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Lujo Hemorrhagic Fever
Stiff neck, Fulminant hepatitis, Odynophagia, Leukopenia, Vomiting, Nausea, Maculopapular exanthe... ORPHA:319213
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Hypochondroplasia
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum ORPHA:429
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Mpi-Cdg
Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Enlarged tonsils, Abnormal circulating insulin concentration, Hypoglycem... ORPHA:293964
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ... ORPHA:93126
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Joint stiffness, Pustule, Abdomi... ORPHA:29207
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatos... ORPHA:79259
Dowling-Degos Disease
Penile freckling, Hyperkeratosis, Arthritis, Anal margin squamous cell carcinoma, Hyperkeratotic ... ORPHA:79145
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, L... ORPHA:343
Familial Cold Urticaria
Nausea and vomiting, Arthritis, Conjunctivitis, Abdominal pain ORPHA:47045
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... ORPHA:379
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Jaundice... ORPHA:1667
Occipital Horn Syndrome
Osteopenia, Gastroesophageal reflux, Abnormality of the wrist, Osteomalacia, Hiatus hernia, Osteo... ORPHA:198
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph... ORPHA:90291
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... ORPHA:85414
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness ORPHA:1345
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenome... ORPHA:1572
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Renal insufficiency, Malabsorption, Flexion contracture, Xerostomia, Osteoly... ORPHA:220393
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Impaired T cell function, Pure red cell aplasi... OMIM:613179
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Cirrhosis,... OMIM:601847
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Splenom... OMIM:257200
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ... ORPHA:158048
Farber Disease
Elevated hepatic transaminase, Abnormality of the knee, Abnormal circulating enzyme concentration... ORPHA:333
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... ORPHA:92050
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Acne, Paradoxical increased cortisol secretion on dex... ORPHA:189427
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphadenopathy, Bone marrow hypo... ORPHA:391
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Hyperinsulinemic hypog... ORPHA:71212
Rheumatic Fever
Nausea and vomiting, Pericarditis, Sinusitis, Anorexia, Abdominal pain, Myocarditis, Endocarditis... ORPHA:3099
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Periodontitis, Abnormal fallopian tube morphology, Ab... ORPHA:722
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Immunodeficiency 54
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia,... OMIM:603553
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Jaundice, Leukocytosi... OMIM:603903
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Short Syndrome
Sparse hair, Alopecia, Insulin resistance, Diabetes mellitus ORPHA:3163
Sitosterolemia 1
Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stom... OMIM:210250
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... OMIM:259100
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hepatoblastoma, Chronic pancr... OMIM:232240
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea, Hepatic fa... OMIM:235555
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Anemia OMIM:620296
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis OMIM:618618
Moderate Hemophilia A
Arthropathy, Hip contracture, Gastrointestinal hemorrhage, Limitation of joint mobility, Synoviti... ORPHA:169805
Vertical Talus, Congenital
Arthritis OMIM:192950
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki... ORPHA:79233
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Solitary Fibrous Tumor
Hypoglycemia, Vaginal neoplasm, Reduced C-peptide level, Recurrent hypoglycemia, Prostate cancer,... ORPHA:2126
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficien... ORPHA:79408
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash... ORPHA:398124
Leptospirosis
Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, Anorexia, Abdominal pain, Cellular ur... ORPHA:509
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrob... ORPHA:1451
Plasminogen Deficiency, Type I
Duodenal ulcer, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal renal tubule morphology, Anorex... ORPHA:732
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Episodic vomiting, Hepatocellular necrosis... OMIM:201475
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi... ORPHA:85410
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... ORPHA:166011
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm... ORPHA:95455
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Hepatic steatosis, Decreased proportion ... OMIM:619573
Hemophilia B
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage OMIM:306900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Breast aplasia ORPHA:90153
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria,... ORPHA:536
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Abdominal pain, Biliary hyperplasia, Splenome... ORPHA:567983
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Abnormal renal morpholog... ORPHA:449280
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum OMIM:271650
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... OMIM:208500
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Prolidase Deficiency
Hepatomegaly, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Anemia... OMIM:170100
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Oroticaciduria, Hepatitis, Feedin... ORPHA:415
Lyme Disease
Nausea and vomiting, Uveitis, Arthritis, Joint swelling, Infectious encephalitis ORPHA:91546
Senior-Loken Syndrome 9
Osteopenia, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fi... OMIM:616629
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis, Joint hypermobility OMIM:620080
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth... ORPHA:85438
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... ORPHA:273
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ... OMIM:211600
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis ORPHA:90653
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, I... ORPHA:99413
Mosaic Monosomy X
Alopecia, Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, I... ORPHA:99228
Monosomy X
Alopecia, Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, I... ORPHA:99226
Turner Syndrome
Alopecia, Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, I... ORPHA:881
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy, Ane... OMIM:267700
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Peritonitis, Metrorrhagia ORPHA:168816
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl... ORPHA:90340
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Recurrent urinary tract infections, Psoriasiform dermatitis, Unilateral renal agenesi... ORPHA:221139
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Vomiting, Nausea, Myelitis ORPHA:83597
Alkaptonuria
Arthropathy, Vertebral fusion, Elevated urinary homogentisic acid, Nephrolithiasis, Limited shoul... OMIM:203500
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Placental Insufficiency
Insulin resistance ORPHA:439167
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Fo... OMIM:232200
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... ORPHA:309031
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Nausea and vomiting, Skin rash, Proteinuria, A... ORPHA:761
Lysinuric Protein Intolerance
Osteopenia, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis, Vomiting, Decreased glomeru... ORPHA:470
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Acute Liver Failure
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Skin rash, Jaundice, Diarrhea, Hepati... ORPHA:90062
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Glucose intolera... OMIM:219090
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Vesicoureteral reflux, Horseshoe kidney, Increased m... OMIM:612562
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ... ORPHA:178320
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Urinary bladder infla... ORPHA:37202
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyp... OMIM:248370
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia, Ectopic kidney OMIM:613328
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Adiposis Dolorosa
Recurrent skin infections, Diarrhea, Xerostomia, Arthritis, Constipation ORPHA:36397
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Wolfram Syndrome 2
Diabetes mellitus, Primary amenorrhea, Decreased circulating antibody level, Oligomenorrhea, Impa... OMIM:604928
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist ORPHA:1657
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, High palate, Recurrent otitis m... OMIM:605309
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... ORPHA:93311
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Joint laxity, Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatospl... ORPHA:541423
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Infectious encephalitis, Hypospadias ORPHA:1194
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... ORPHA:96253
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Esophageal atre... ORPHA:391641
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis OMIM:270150
Catastrophic Antiphospholipid Syndrome
Abnormality of the kidney, Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Gastrointest... ORPHA:464343
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, I... OMIM:215600
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Ovarian Fibroma
Gonadal calcification, Peritonitis, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Insulin resistance, Nail dystrophy, Delayed puberty ORPHA:90154
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Gout, Diabetic ketoacidosis, Tub... ORPHA:358
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpho... ORPHA:99826
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Abscess, Pneumonia, Erythema nodosum, Abnor... ORPHA:228123
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Laron Syndrome
Osteoarthritis, Abnormality of the elbow, Hypoplasia of penis ORPHA:633
Hand-Foot-Genital Syndrome
Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Pyelonephritis, Chordee, De... OMIM:140000
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Nausea and vomiting, Renal insufficiency, Deep dermal perivascular inflammator... ORPHA:49041
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
Plague
Glossitis, Chapped lip, Hepatomegaly, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Sple... ORPHA:707
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Behçet Disease
Myositis, Anorexia, Infectious encephalitis, Glomerulopathy, Acne, Abdominal pain, Retrobulbar op... ORPHA:117
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, D... OMIM:300972
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... ORPHA:542323
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Bowel... OMIM:130000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Renal phosphate wasting, Renal tubular dysfun... OMIM:307800
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Vomiting, Nausea, Decre... ORPHA:340
Localized Scleroderma
Fasciitis, Abnormality of the kidney, Flexion contracture, Uveitis, Arthritis, Gastroesophageal r... ORPHA:90289
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p... OMIM:608233
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megac... OMIM:619351
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Acne, Osteoporosis ORPHA:77296
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Metrorrhagia, Albinism, Impaired ADP-induced platelet aggregation... OMIM:614074
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T... ORPHA:169090
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Dysphagia ORPHA:397744
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Microcytic anemia, Elevated circulating th... OMIM:256040
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... ORPHA:556
Hereditary Hyperekplexia
Joint dislocation, Joint stiffness, Hiatus hernia, Hip dislocation, Gastroesophageal reflux, Esop... ORPHA:3197
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine ORPHA:331
Atelis Syndrome 2
Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi... OMIM:620185
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Panniculitis, Inflammatory abnor... ORPHA:33577
Pseudoachondroplasia
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... OMIM:177170
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Infectious encephalitis ORPHA:83317
Chikungunya
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Diarrhea, Crusting erythem... ORPHA:324625
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymp... OMIM:181000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Stomatitis OMIM:612852
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Phalangeal dislocation, Osteoarthritis, Osteoporosis, Advanced o... OMIM:251450
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Lymphocytosis, Pancreatic hypoplasi... OMIM:619991
Tenorio Syndrome
Hypoglycemia, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Hyp... OMIM:616260
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Anorexia, Joint stiffness, Abdominal pain, Hematuria, Arthriti... ORPHA:397
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility OMIM:108300
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... OMIM:257220
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn... OMIM:214500
Fabry Disease
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, ... ORPHA:324
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... ORPHA:93360
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis, Decreased level of D-mannose in... OMIM:109650
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Osteoarthritis, In... ORPHA:740
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Hiatus hernia, Abnormal joint morph... ORPHA:1901
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocation, Knee disloca... OMIM:618000
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Typhoid
Skin rash, Splenomegaly, Infectious encephalitis ORPHA:99745
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Recurrent urinary tract infections, Pyloric stenosis, Recurrent pneumonia, Hip disl... ORPHA:90349
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Skin rash... ORPHA:50918
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Microcytic anemia ORPHA:90308
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Nausea, Abdominal ... ORPHA:99921
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Gm1 Gangliosidosis
Splenomegaly, Hepatosplenomegaly, Abnormality of the scrotum, Aspiration pneumonia, Infectious en... ORPHA:354
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Fumarase Deficiency
Necrotizing enterocolitis, Intrahepatic cholestasis, High palate, Hepatic failure, Ascites, Polyc... OMIM:606812
Alkaptonuria
Joint dislocation, Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density... ORPHA:56
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Feeding difficulties in infancy, Splenomegaly, Micronodular ci... OMIM:251880
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis OMIM:238600
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Cryptorchidism, Male pseudohermaph... ORPHA:847
Oculocerebrorenal Syndrome Of Lowe
Feeding difficulties in infancy, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontit... ORPHA:534
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... ORPHA:157
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Hypospadias, Esophagitis, Feeding difficulties ORPHA:79350
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, ... OMIM:612132
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Pmm2-Cdg
Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, I... ORPHA:79318
Gaisböck Syndrome
Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephrocalc... ORPHA:90041
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria, Sagittal craniosynostosis OMIM:616901
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab... OMIM:230900
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Hepatic calcification,... ORPHA:228308
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Abdominal pain, Limitation of joi... ORPHA:93672
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... ORPHA:1427
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitial nephritis, Nephrotic syndrom... ORPHA:488627
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Renal hypopla... ORPHA:2538
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Abdominal distention, Delayed epiphyseal ossification, Premature osteoarthritis, He... ORPHA:93352
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Lymph node hypoplasia, Absence of... ORPHA:90186
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Feeding difficulties, Tubu... OMIM:617595
Incontinentia Pigmenti
Alopecia, Skin rash, Eosinophilia, Supernumerary nipple, Keratitis, Abnormal hair morphology, Uve... ORPHA:464
Meningococcal Meningitis
Skin rash, Infectious encephalitis, Elevated circulating C-reactive protein concentration ORPHA:33475
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent... OMIM:606721
Nipah Virus Disease
Infectious encephalitis ORPHA:99825
Riddle Syndrome
Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Enuresis nocturna, Arthritis, Otitis me... ORPHA:420741
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Tubul... ORPHA:33001
African Trypanosomiasis
Pericarditis, Alopecia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, ... ORPHA:3385
Familial Thrombocytosis
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly ORPHA:71493
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anorexia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephrit... ORPHA:91500
Cerebral Visual Impairment
Infectious encephalitis, Neonatal hypoglycemia ORPHA:447788
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Genu recurvatum, Unilateral renal agenesis, Hip dislocation, Bronchiect... ORPHA:90348
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... OMIM:612301
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis ORPHA:1320
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Renal steatosis, Gout, Hepatic steatosis ORPHA:412
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Multiple Epiphyseal Dysplasia Type 4
Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif... ORPHA:93307
Alexander Disease
Precocious puberty, Diabetes mellitus, Hypothyroidism, Infectious encephalitis ORPHA:58
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Chilblains, Neonatal alloim... ORPHA:51
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirr... OMIM:613471
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Sagittal craniosynostosis, Tubulointerstitial nephritis, Enuresis, Cam... ORPHA:459061
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal re... ORPHA:567
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Anemia, Leukopenia... OMIM:222700
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Uric acid nephrolithiasis,... OMIM:300661
Neurocutaneous Melanocytosis
Infectious encephalitis, Generalized hirsutism ORPHA:2481
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia OMIM:215150
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... ORPHA:93314
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Sarcoidosis
Increased T cell count, Uveitis, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemo... ORPHA:797
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Decreased mitochondrial complex III activity in liver tissue, Chol... OMIM:124000
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Hepatic failure, ... OMIM:276700
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P... ORPHA:31204
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Crimean-Congo Hemorrhagic Fever
Anorexia, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbillifor... ORPHA:99827
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Intermediate Uveitis
Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis ORPHA:279914
Japanese Encephalitis
Neutrophilia, Increased circulating IgM level, Increased circulating antibody level, Inappropriat... ORPHA:79139
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Chronic kidney disease, Feeding diffi... ORPHA:642
Loeys-Dietz Syndrome 5
Eosinophilic infiltration of the esophagus, Hiatus hernia, Osteoarthritis, Congenital finger flex... OMIM:615582
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Feeding difficulties in infancy, Myocarditis, Gastr... ORPHA:221
Esophageal Atresia
Barrett esophagus, Renal agenesis, Intestinal malrotation, Feeding difficulties in infancy, Pylor... ORPHA:1199
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Multiple Osteochondromas
Abnormality of the knee, Intestinal obstruction, Limitation of joint mobility, Abnormal carpal mo... ORPHA:321
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal u... ORPHA:913
Marshall Syndrome
Osteoarthritis, Genu valgum ORPHA:560
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Mucopolysaccharidosis Type 2, Severe Form
Abnormal circulating enzyme concentration or activity, Camptodactyly of finger, Heparan sulfate e... ORPHA:217085
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Arthri... OMIM:161700
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal circulating enzyme concentration or activity, Camptodactyly of finger, Heparan sulfate e... ORPHA:217093
Osteogenesis Imperfecta
Osteopenia, Intestinal obstruction, Recurrent fractures, Protrusio acetabuli, Joint hypermobility... ORPHA:666
Cranioectodermal Dysplasia 1
Joint laxity, Hepatomegaly, Sagittal craniosynostosis, Malformation of the hepatic ductal plate, ... OMIM:218330
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration OMIM:619656
Poliomyelitis
Infectious encephalitis, Absent tonsils, Myelitis ORPHA:2912
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Nausea and vomiting, Malabsorption, Elbow dislocation, Osteoarthritis, Limitat... ORPHA:285
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Tetrasomy 9P
Joint dislocation, Absent gallbladder, Myositis, Pericarditis, Recurrent urinary tract infections... ORPHA:3310
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder ORPHA:70591
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Pustule, Abnormality of the adrenal glands, Granuloma, Infectious encephali... ORPHA:68
Classical Ehlers-Danlos Syndrome
Osteopenia, Phalangeal dislocation, Hiatus hernia, Osteoarthritis, Generalized joint laxity, Hip ... ORPHA:287
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Feeding difficul... OMIM:163950
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Joint stiffness, Malabsorption, Splenomegaly, Arthritis, Ch... ORPHA:93
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... ORPHA:2388
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Recurrent urinary tract infections, Recurrent skin infections, Camptodactyly of finge... ORPHA:3455
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Insulinoma, Zollinger-Ellison syndrome, Es... OMIM:131100
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Feeding difficulties in infancy, Osteoarthritis, Hip disl... ORPHA:828
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Hunter-Macdonald Syndrome
Hypospadias, Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the ha... OMIM:611962
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Tubulointerstitial nephritis, Kerato... ORPHA:79078
Mucopolysaccharidosis Type 2
Hepatomegaly, Splenomegaly, Limitation of joint mobility, Chronic diarrhea, Abnormal epiphyseal o... ORPHA:580
Lacrimoauriculodentodigital Syndrome
Xerostomia, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Dyspha... ORPHA:2363
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gastrointestinal dysmotili... ORPHA:2152
Cysticercosis
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Acromegaly
Acne, Dysuria, Osteoarthritis, Wide penis, Long penis, Joint swelling ORPHA:963
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, ... OMIM:613795
Marfan Syndrome
Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl... OMIM:154700
Somatomammotropinoma
Joint swelling, Osteoarthritis, Dysuria ORPHA:314769
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Hypospadias, Osteoarthritis, Cystocele, Osteolysis... 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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