Gene Summary

zinc finger protein 36
Nup475,  Zfp-36,  Tristetraprolin,  Tis11,  Ttp

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased leukocyte cell number Zfp36tm1(KOMP)Vlcg HET Early adult 9.69×10-05
increased fasting circulating glucose level Zfp36tm1(KOMP)Vlcg HET Early adult 2.21×10-07
decreased mean corpuscular volume Zfp36tm1(KOMP)Vlcg HET Early adult 5.64×10-10

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zfp36 mutations

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

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

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

The table below shows human diseases predicted to be associated to Zfp36 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Recurrent skin infections, Lymphadenopathy, Infl... ORPHA:499
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Jaundice, Hepatomegal... OMIM:603552
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media, Defective T ce... OMIM:615615
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Knee flexion co... OMIM:604416
Masp2 Deficiency
Systemic lupus erythematosus, Ulcerative colitis, Recurrent pneumonia OMIM:613791
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Thrombocytopenia, He... OMIM:603554
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Cellulitis, Chronic otitis media, Neutropenia, Weight loss, Throm... ORPHA:47
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Osteopetrosis, Hepatomegaly, Recurrent ski... OMIM:612840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Pneumo... OMIM:601457
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Colitis, Pancytopenia,... OMIM:300635
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Hepatomegaly, ... OMIM:608971
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Leukocytosis, Conjuncti... ORPHA:3392
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Eczema, Bone marrow hypocellu... OMIM:616871
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Hypothyroidism, Neut... OMIM:304790
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Omenn Syndrome
Pruritus, Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morph... ORPHA:39041
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Lymphopenia, Panniculitis, Flexion contracture, Lipodys... OMIM:617591
Muckle-Wells Syndrome
Skin rash, Camptodactyly of finger, Uveitis, Nephropathy, Hepatomegaly, Conjunctivitis, Delayed p... ORPHA:575
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Increased circulating lactate dehydrogenase concentr... OMIM:604173
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Wilson Disease
Acute hepatitis, Pruritus, Cirrhosis, Elevated hepatic transaminase, Joint swelling, Hepatic stea... ORPHA:905
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Adult-Onset Still Disease
Skin rash, Pruritus, Pericarditis, Elevated hepatic transaminase, Joint swelling, Leukocytosis, M... ORPHA:829
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormality of the nail, Abnormal eyelid morphology, Abnormal lymphocyte mor... ORPHA:2584
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Osteoarthritis Susceptibility 3
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthritis of the distal i... OMIM:607850
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Schnitzler Syndrome
Skin rash, Pruritus, Leukocytosis, Increased bone mineral density, Hepatomegaly, Anemia, Splenome... ORPHA:37748
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Isolated Agammaglobulinemia
Skin rash, Cellulitis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thr... ORPHA:229717
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Impaired lymphocyte transformation with p... OMIM:300400
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Follicular hype... OMIM:240500
Sézary Syndrome
Pruritus, Ectropion, Erythroderma, Abnormal lymphocyte morphology, Hepatomegaly, Nail dystrophy, ... ORPHA:3162
Autosomal Agammaglobulinemia
Skin rash, Cellulitis, Bronchiectasis, Chronic otitis media, Epicanthus, Neutropenia, Conjunctivi... ORPHA:33110
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Erythema n... OMIM:611762
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Farber Lipogranulomatosis
Joint swelling, Lipogranulomatosis, Hepatomegaly, Failure to thrive, Splenomegaly, Cherry red spo... OMIM:228000
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neu... ORPHA:381
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Conjunctivitis, Short stature, Polyarticular arthritis, Re... OMIM:191900
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Vexas Syndrome
Chondritis of pinna, Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration o... OMIM:301054
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Increased susceptibility to frac... ORPHA:231222
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Gastrointestinal hemorrhage, Maculopapular exanthema, Hepatomegaly, Conjunctivitis, Er... OMIM:142680
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Cellulitis, Chronic oral candidiasis, Autoimmune hemolytic a... OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Failure to thrive, Splenomegal... OMIM:618495
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Conjunctivitis, Anemia, Fai... OMIM:616740
Skin rash, Hemolytic anemia, Pericarditis, Thyroiditis, Abnormal lymphocyte morphology, Abnormali... ORPHA:99867
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Congenital Atransferrinemia
Hypothyroidism, Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Thrombocythemia 2
Thrombocytosis OMIM:601977
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia, Eczema OMIM:300988
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, C... OMIM:601495
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:617241
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Conjunctivitis, Arthritis OMIM:120100
Clouston Syndrome
Small nail, Onycholysis, Absent pubic hair, Absent axillary hair, Slow-growing hair, Nail dysplas... OMIM:129500
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia, Obesity OMIM:234350
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis, Abnormality of the endocrine system OMIM:114580
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Increased circulating... ORPHA:824
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Erythroderma, Decr... ORPHA:169160
Trichohepatoenteric Syndrome 2
Cirrhosis, Sparse hair, Uncombable hair, Colitis, Hepatomegaly, Hepatitis, Small for gestational ... OMIM:614602
Cinca Syndrome
Skin rash, Leukocytosis, Growth delay, Uveitis, Eosinophilia, Patellar overgrowth, Anemia, Hepato... OMIM:607115
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, Th... OMIM:233600
Immunodeficiency 40
Lymphopenia OMIM:616433
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Limitation of joint mobility, Eosinophilia, Arthritis ORPHA:2582
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Majeed Syndrome
Skin rash, Joint swelling, Microcytic anemia, Growth delay, Flexion contracture, Erythroid hyperp... OMIM:609628
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hyperlipoproteinemia, Type Id
Colitis, Hepatomegaly, Failure to thrive, Splenomegaly, Lipemia retinalis OMIM:615947
Chondrocalcinosis 2
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis OMIM:118600
Pfapa Syndrome
Weight loss, Hepatomegaly, Encephalitis, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:42642
Apolipoprotein A-I Deficiency
Corneal opacity, Anemia, Splenomegaly, Abnormality of the liver, Lymphadenopathy ORPHA:425
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Felty Syndrome
Pericarditis, Neutropenia, Weight loss, Anemia, Sinusitis, Lymphadenopathy, Osteolysis, Thrombocy... ORPHA:47612
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Interface hepatitis, Hematochezia, Autoimmune hemolytic anemia, Abnormal abdom... OMIM:243150
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Ascites, Anemia, Splenomegaly, Alopecia, Premature ovarian insufficie... ORPHA:100025
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Immunodeficiency 8
Lymphopenia OMIM:615401
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Cirrhosis, Erythroderma, Conjunctivitis, Short stature, Failure to thrive, Alopecia,... OMIM:242150
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Joint hypermobility, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic... OMIM:618282
Graft Versus Host Disease
Maculopapular exanthema, Pneumonia, Stiff interphalangeal joints, Limited shoulder movement, Chro... ORPHA:39812
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Cellulitis, Abnormal hair morphology ORPHA:345
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Recurrent... OMIM:259710
Mixed Connective Tissue Disease
Skin rash, Osteolysis, Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Joint swellin... ORPHA:809
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circu... OMIM:615934
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Immunodeficiency 19
Lymphopenia, Recurrent otitis media OMIM:615617
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Sparse hair, Long eyelashes, Severe short stature, Delayed... OMIM:275400
Dermatitis, Atopic
Keratoconus, Pruritus, Allergic rhinitis, Atopic dermatitis, Conjunctivitis, Cataract, Eczema, Re... OMIM:603165
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Abnormal hip joint morphology, Joint swelling, Hip osteoarthritis, Flexion contrac... ORPHA:85408
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Growth delay, Hepatomegaly, Ptosis, Failure to thrive, Dilated car... OMIM:615895
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... OMIM:269200
Hypocomplementemic Urticarial Vasculitis
Skin rash, Pruritus, Small vessel vasculitis, Hematuria, Proteinuria, Uveitis, Hepatomegaly, Conj... ORPHA:36412
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Prostatitis, Lung abscess, Cutaneous abscess, Cellulitis, Unusual skin infection, Splenic abscess... ORPHA:31202
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Osteopenia, Acute myel... ORPHA:486
Congenital Bile Acid Synthesis Defect Type 3
Pruritus, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver ... ORPHA:79302
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Folliculitis, Scarring alopecia of scalp, Nail dysplasia, Cataract, Conjunctiv... OMIM:612843
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Neutropenia, Hypertension, Splenomegaly, Tachycardia, Anemia, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Abnormality of the nail, Ectropion, Corneal erosion, Erythroderma, Keratitis, Short sta... ORPHA:79394
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Reduced bone minera... ORPHA:848
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Proteinuria, Leukocytosis, Congenital hypoplastic anemia,... ORPHA:77297
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Autoimmunity, Allergic rhinitis OMIM:131430
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Decreased circulating parathyroid hormone level, Decreased ... OMIM:240300
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Patent ductus arteriosus, Neutropenia, Hypoplasia... OMIM:612541
Thrombocythemia 3
Thrombocytosis OMIM:614521
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Holocarboxylase Synthetase Deficiency
Organic aciduria, Growth delay, Perioral eczema, Weight loss, Thrombocytopenia, Alopecia, Eczema,... ORPHA:79242
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia ORPHA:505
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Anemia, Leukopenia, Eczema, Recurrent otitis media, Panniculitis, Portal... OMIM:615688
Juvenile Idiopathic Arthritis
Skin rash, Nail pits, Abnormality of the nail, Abnormal sacroiliac joint morphology, Joint swelli... ORPHA:92
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Gastrointestinal hemorrhage, Proteinuria, Viral hepatitis, Hepato... ORPHA:91138
Cogan Syndrome
Thrombocytosis, Scleritis, Aortic regurgitation, Leukocytosis, Large vessel vasculitis, Uveitis, ... ORPHA:1467
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropenia, Pneumonia, Failure to ... ORPHA:37042
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Hepatomegaly, Conjunctivitis, Decreased biotinidase level, Alop... OMIM:253260
Osteochondrosis Of The Tarsal Bone
Chondritis, Abnormal tarsal ossification, Tarsal sclerosis, Tarsal stippling, Osteochondritis Dis... ORPHA:563991
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Immunodeficiency 55
Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth retardation, Eczema... OMIM:617827
Porphyria, Congenital Erythropoietic
Osteolysis, Hemolytic anemia, Atypical scarring of skin, Pink urine, Absent eyebrow, Cholelithias... OMIM:263700
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Abnormality of the nail, Ectropion, Scarring alopecia of scalp, Nail dysplasia, Con... OMIM:308800
Hemochromatosis, Type 2A
Cirrhosis, Arrhythmia, Hypogonadotropic hypogonadism, Hepatomegaly, Congestive heart failure, Spl... OMIM:602390
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Systemic lupus erythematosus, Antinuclear antibody positivity OMIM:178610
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Pruritus, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Ne... ORPHA:79301
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Joint swelling, Hepatomegaly, Juvenile rheumatoid arthritis, Anterior uv... ORPHA:85414
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Growth delay, Colitis, B lymphocytopenia, Sp... OMIM:619164
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Conjunctivitis, Recurrent otitis media, Re... OMIM:613493
Galactose Epimerase Deficiency
Growth delay, Aminoaciduria, Weight loss, Hepatomegaly, Cataract, Jaundice, Splenomegaly ORPHA:79238
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypo... ORPHA:227990
Legionnaires Disease
Arrhythmia, Endocarditis, Pericarditis, Hematuria, Cellulitis, Hypotension, Myocarditis, Lymphope... ORPHA:549
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Growth delay, Osteopetrosis, Pancytopenia, Thrombocytopenia, Hepato... OMIM:259720
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arthritis, Enterovi... OMIM:300755
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jo... ORPHA:100024
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Growth delay, Polyarticular arthritis, Uveitis, Punctat... OMIM:617388
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Pericarditis, Pneumonia, Increased circulating IgG level, Anemia, Hypersplenism, Leukopenia, Myoc... ORPHA:1304
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Skin rash, Elevated hepatic transaminase, Erythroder... ORPHA:540
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Hyperglycemia, Hyperinsulinemia OMIM:616214
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Vasculitis, Abnormal sacroiliac joint morphology, Pericarditis, Celluliti... ORPHA:32960
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Pruritus, Osteoporosis, Elevated total serum... ORPHA:98848
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Extramedullary hematopoiesis, Hirsutism,... ORPHA:313855
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Proteinuria, Type I diabetes mellitus, Myositis, ... ORPHA:69126
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Autoimmune Polyendocrinopathy Type 3
Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomatosis, Autoimm... ORPHA:227982
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Pulmonary insufficiency, Lymphopenia, Recurrent otitis media, ... ORPHA:277
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia, Cardiomyopathy, Arthritis OMIM:604250
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:104000
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Peritonitis, Acute kidney injury, Pneumonia, Failure to thrive in infancy, Hypovolemic shock, Myo... ORPHA:810
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Cirrhosis, Spider hemangioma, Elevated hepa... ORPHA:2137
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Pneumonia, Failure to thrive, Otiti... OMIM:602450
Lassa Fever
Skin rash, Gastrointestinal hemorrhage, Chemosis, Palpebral edema, Thrombocytopenia, Conjunctivit... ORPHA:99824
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Enlarged tonsils, Neutropenia, Stomatitis, T... OMIM:308230
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Rickets, Intrahepatic cholestasis... OMIM:607765
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyelashes, Absent eyebrow ORPHA:701
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Sparse scalp hair, Alopecia universalis, Sparse body ... ORPHA:1008
Eng-Strom Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Short stature, Arthritis ORPHA:1937
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Osteoporosis, Seborrheic dermatitis, Osteolysis, Elevated circulating growth hormone concentratio... ORPHA:2796
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Erythrokeratodermia Variabilis
Skin rash, Abnormality of the nail, Abnormal hair morphology, Abnormal testis morphology, Corneal... ORPHA:317
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Cubitus valgus, Brushfield spots, Palpebral edema, Upslanted palpebral fissure, C... OMIM:214110
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Hurler-Scheie Syndrome
Corneal opacity, Hepatomegaly, Rhinitis, Hernia, Short stature, Splenomegaly, Generalized hirsuti... ORPHA:93476
Skin rash, Pruritus, Cellulitis, Flexion contracture, Recurrent cutaneous abscess formation, Limi... ORPHA:231
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... OMIM:152700
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Failure to thrive, Splenomegaly, Cherry red spot of the m... ORPHA:796
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Recurrent skin infections OMIM:610680
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Alopecia, Nail dys... OMIM:601705
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Lymphopenia, Chronic at... OMIM:616100
Alopecia-Mental Retardation Syndrome 4
Erythroderma, Bilateral cryptorchidism, Alopecia, Hypospadias, Micropenis OMIM:618840
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Lymphadenitis, Lipoatrophy, Absence of subcutaneous fat, Alopeci... ORPHA:90156
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Hypertens... ORPHA:494424
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Pyoderma, Abnormal T c... OMIM:242700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Skin rash, Chronic oral candidiasis, Lymph node hypoplasia, Decreased proportion ... ORPHA:276
Zika Virus Disease
Skin rash, Pruritus, Myelitis, Iris coloboma, Maculopapular exanthema, Thrombocytopenia, Conjunct... ORPHA:448237
Syndromic Diarrhea
Small for gestational age, Cirrhosis, Hypoplasia of the thymus, Trichorrhexis nodosa, Hepatoblast... ORPHA:84064
Q Fever
Hematuria, Pericarditis, Abnormal left ventricular function, Pneumonia, Maculopapular exanthema, ... ORPHA:781
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Aminoaciduria, Hepatome... ORPHA:417
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Hypertension, Cholestasis, Hepatomegaly, Nephropathy, Nephrotic syndrome, S... OMIM:105200
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Growth delay, Hepatomegaly, Cataract, Erysipelas, Delayed puberty, Nail dysplasia, Alopecia OMIM:615704
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Conjunctivitis, Chronic sinusitis OMIM:612692
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Weight loss, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Kawasaki Disease
Skin rash, Arrhythmia, Pericarditis, Proteinuria, Leukocytosis, Cholecystitis, Cheilitis, Abnorma... ORPHA:2331
Mueller-Weiss Syndrome
Chondritis, Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteo... ORPHA:566943
Bullous Impetigo
Pustule, Abnormality of the lymphatic system, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Short eyelashes, Curly hair, Chronic irritative conjunctivitis, Chronic neutropeni... OMIM:258360
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Restrictive cardiomyopathy, Hepatomegaly, Splenomegaly, Myeloproliferative disorder, Eo... OMIM:607685
Copper Deficiency, Familial Benign
Seborrheic dermatitis, Curly hair, Early balding, Failure to thrive, Anemia OMIM:121270
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, Chronic atrophic gastritis, Thr... OMIM:616576
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Cellulitis, Bronchiecta... OMIM:615513
Netherton Syndrome
Brittle scalp hair, Allergic rhinitis, Erythroderma, Sparse scalp hair, Hypereosinophilia, Sparse... OMIM:256500
Rat-Bite Fever
Skin rash, Pustule, Endocarditis, Pericarditis, Morbilliform rash, Abdominal aseptic abscess, Lym... ORPHA:31205
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Immunodeficiency 61
Obesity, Recurrent otitis media, Recurrent sinusitis, Arthritis OMIM:300310
Porphyria Cutanea Tarda
Cutaneous abscess, Hepatic lobular inflammation, Recurrent bacterial skin infections, Hirsutism, ... ORPHA:101330
Diffuse Cutaneous Mastocytosis
Pruritus, Gastrointestinal hemorrhage, Hypotension, Erythroderma, Hepatomegaly, Leukemia, Cutaneo... ORPHA:79456
Cronkhite-Canada Syndrome
Hypoplastic toenails, Hepatomegaly, Cataract, Splenomegaly, Cachexia, Anemia, Aplasia/Hypoplasia ... ORPHA:2930
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Trichothiodystrophy 3, Photosensitive
Erythroderma, Tiger tail banding, Cataract, Brittle hair, Short stature, Joint contracture of the... OMIM:616395
Roifman Syndrome
Recurrent pneumonia, Noncompaction cardiomyopathy, Prominent eyelashes, Recurrent otitis media, P... OMIM:616651
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Quinquaud Folliculitis Decalvans
Pustule, Abnormal hair morphology, Scarring, Scarring alopecia of scalp, Patchy alopecia, Recurre... ORPHA:346
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, He... OMIM:619126
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Sparse hair, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Absent eyebr... ORPHA:436252
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Hypotension, Neutropenia, Fetal ascites,... ORPHA:292
Idiopathic Hypereosinophilic Syndrome
Pruritus, Joint swelling, Intracranial hemorrhage, Vasculitis in the skin, Generalized lymphadeno... ORPHA:3260
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Reduced bone mineral density, Short stature, Splenomegaly, F... ORPHA:172
Takayasu Arteritis
Arterial stenosis, Increased inflammatory response, Hypertensive crisis, Hypertension, Vascular d... ORPHA:3287
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hemochromatosis, Type 1
Osteoporosis, Cirrhosis, Arrhythmia, Arthropathy, Elevated hepatic transaminase, Hepatocellular c... OMIM:235200
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Alopecia, Woolly scalp hair, Decreased testicular size, Woolly ha... OMIM:601217
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Reticulocytosis, Growth delay, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jau... OMIM:615631
Pseudoprogeria Syndrome
Absent eyelashes, Sparse hair, Growth delay, Absent eyebrow, Decreased body weight, Sparse and th... ORPHA:2985
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Arthralgia/arthritis ORPHA:411593
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Osteochondrosis Of The Metatarsal Bone
Chondritis, Progressive joint destruction, Joint stiffness, Sclerosis of foot bone, Osteochondros... ORPHA:564003
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthritis, Severe sho... ORPHA:2619
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Epicanthus, Cholelithiasis, Normocytic anemia, Ja... OMIM:611881
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Atrophic scars, Growth delay, Flexion contracture, Corneal scarring, Cataract,... OMIM:226600
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Sagittal craniosynostosis, Epicanthus, Osteopenia, Umbilical her... OMIM:610199
Trichothiodystrophy 1, Photosensitive
Abnormality of hair texture, Small nail, Sparse hair, Erythroderma, Flexion contracture, Absence ... OMIM:601675
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Inflammatory abnormality of the skin ORPHA:79099
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Keloids, Alopecia ... ORPHA:2890
Caspase 8 Deficiency
Pneumonia, Decreased CD4:CD8 ratio, Short stature, Splenomegaly, Failure to thrive, Eczema, Lymph... OMIM:607271
Ulerythema Ophryogenesis
Abnormal eyebrow morphology, Alopecia, Inflammatory abnormality of the skin ORPHA:3406
Acrodermatitis Enteropathica
Pustule, Abnormal eyebrow morphology, Abnormality of the nail, Abnormal eyelid morphology, Cornea... ORPHA:37
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Neutropenia OMIM:613501
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chron... ORPHA:79303
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus, Limitation of joint mobility ORPHA:399180
Widow'S Peak Syndrome
Cryptorchidism, Mild short stature, Hip osteoarthritis, Widow's peak, Inguinal hernia, Ptosis, Re... OMIM:314570
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Short stature, ... OMIM:614480
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Epicanthus, Fair hair, Hepatomegaly, Nephrotic syndrome, Ptosis, Congesti... OMIM:269920
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Scarring alopecia of scalp, Cholestasis, Hepatomegaly, Jaundic... ORPHA:59303
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Failure to thrive, Splenomegaly OMIM:230350
Lichen Planopilaris
Pruritus, Onycholysis, Hepatitis, Pterygium, Alopecia, Abnormal fingernail morphology ORPHA:525
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Osteoarthritis, Anemia OMIM:606069
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Pruritus, Osteolysis, Abnormal sacroiliac joint m... ORPHA:324964
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus, Cutaneous mastocytosis ORPHA:280785
Peritonitis, Pericarditis, Pneumonia, Myocarditis, Hepatic granulomatosis, Osteomyelitis, Endocar... ORPHA:533
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Elevated circulating thyroid-stimulating hormone concentration, Sparse... OMIM:256040
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Pericarditis, Weight loss, Keratoconjunctivitis ... OMIM:617321
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Pruritus, Camptodactyly of finger, Giant cell hepatitis, Cholelithiasis, Jaundice, Bilateral ptosis OMIM:214980
Netherton Syndrome
Skin rash, Abnormal hair morphology, Erythroderma, Aminoaciduria, Sparse scalp hair, Sparse and t... ORPHA:634
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Renal insufficiency, Arthrogryposis multiplex congenita, Flexion c... ORPHA:440713
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hernia of the abdominal wall, Obesity, Short stature, Hypoplasia of penis, Eczema... ORPHA:3055
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Pneumonia, Shock, Sinusitis, Myositis, Myocarditis, Renal insufficiency, ... ORPHA:36234
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Bronchiectasis, Decreased proportion of CD4-positive helper T cells,... OMIM:300853
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, B lymphoc... OMIM:612260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Scrub Typhus
Skin rash, Hypotension, Splenomegaly, Encephalitis, Anterior uveitis, Myocarditis, Renal insuffic... ORPHA:83317
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Intrauterine growth retardation, Hepatomegaly, Short stature, Splenomegaly OMIM:618541
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Synovitis, Hypertension, Glomerulonephritis, Microsc... ORPHA:567544
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Recurrent otitis media... OMIM:615607
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hirsutism, Lipodystrophy, Hepatomegaly, Short stature, Splenomegaly, Reduced s... OMIM:612526
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Rickets... ORPHA:882
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypertension, Sudden cardiac death, Myocardial infarction, Gout OMIM:610947
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Ectropion, Erythroderma, Flexion contracture, Nail dysplasia, Alopecia, Nail dystrophy OMIM:242300
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Hypothyroidism, Camptodactyly, Acute hepatic failure, Neutropenia in pres... ORPHA:228426
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Nephropathy, Gout, Renal cyst, Chronic kidney di... OMIM:617056
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Sparse hair, Alopecia, Dystrophic toenail OMIM:614928
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Eczema, Otitis media, ... ORPHA:906
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenome... OMIM:612714
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains, Elevated hepatic transaminase OMIM:610329
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Budd-Chiari syndrom... OMIM:226300
Pediatric Systemic Lupus Erythematosus
Skin rash, Microangiopathic hemolytic anemia, Renal insufficiency, Hematuria, Proteinuria, Lympho... ORPHA:93552
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Primary adrenal insufficiency, Rheumatoid arthritis, Has... ORPHA:589
American Trypanosomiasis
Skin rash, Arrhythmia, Cardiomyopathy, Hepatomegaly, Splenomegaly, Congestive heart failure, Ence... ORPHA:3386
Enamel hypoplasia, Cryptorchidism, Craniosynostosis, Ridged nail, Neutropenia, Increased bone min... ORPHA:33364
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Arthritis ORPHA:3165
African Iron Overload
Peritonitis, Micronodular cirrhosis, Osteoporosis, Increased circulating cortisol level, Viral he... ORPHA:139507
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia... OMIM:618935
Refractory Anemia
Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Thro... ORPHA:98826
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Erythroderma, Scarring alopecia of scalp, Punctate keratitis, Sparse and thin e... OMIM:602540
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Prolidase Deficiency
Recurrent pneumonia, Elevated circulating aspartate aminotransferase concentration, Diffuse telan... OMIM:170100
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Thrombocytopenia, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Intrauterine... OMIM:615846
Letterer-Siwe Disease
Seborrheic dermatitis, Neutropenia, Stomatitis, Thrombocytopenia, Jaundice, Anemia, Hepatosplenom... OMIM:246400
H Syndrome
Bronchiectasis, Camptodactyly, Histiocytosis, Delayed puberty, Hypertrichosis, Decreased testicul... ORPHA:168569
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Growth delay, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpu... OMIM:615234
Hodgkin Lymphoma
Pruritus, Weight loss, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Reduced level of N-a... OMIM:224120
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Hypothyroidism, Camptodactyly, Hashimoto thyroiditis, Failure to thrive ... OMIM:613385
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Delayed puberty, Pulmonary arterial hypertension, Eczema, Renal arte... ORPHA:391487
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Colitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatospl... OMIM:613101
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Biliary... ORPHA:2552
Wilson Disease
Osteoporosis, Joint hypermobility, Cirrhosis, Hemolytic anemia, Hyperphosphaturia, Chondrocalcino... OMIM:277900
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Paronychia, Failure to thrive, Blepharitis, Onychogryposis OMIM:614328
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Conjunctival telangiectasia, T lymphocytopenia, Bronchiectasis, Abnormal hair morphology, Decreas... OMIM:208900
Symptomatic Form Of Hemochromatosis Type 1
Joint swelling, Stiff interphalangeal joints, Weight loss, Joint stiffness, Cardiomegaly, Cardiom... ORPHA:465508
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tricuspid regurgitation, Hypertrichosis, Joint stiffness, Anemia, Leukopenia, Pulmonary arterial ... ORPHA:505248
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Ectopic ossification in muscle tissue, Ectopic ossification in ligament tis... ORPHA:337
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Peripheral arterial stenosi... ORPHA:71493
Lamellar Ichthyosis
Pruritus, Abnormality of the nail, Sparse hair, Ectropion, Erythroderma, Chronic otitis media, Sh... ORPHA:313
Hepatoerythropoietic Porphyria
Pruritus, Red-brown urine, Purple urine, Recurrent bacterial skin infections, Seborrhoeic blephar... ORPHA:95159
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Kikuchi-Fujimoto Disease
Lymphocytosis, Skin rash, Pruritus, Vasculitis in the skin, Generalized lymphadenopathy, Neutrope... ORPHA:50918
Albers-Schönberg Osteopetrosis
Genu valgum, Mandibular osteomyelitis, Generalized osteosclerosis, Recurrent fractures, Joint dis... ORPHA:53
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia OMIM:613502
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Roifman Syndrome
Noncompaction cardiomyopathy, Delayed proximal femoral epiphyseal ossification, Prominent eyelash... ORPHA:353298
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia OMIM:616022
Thumb Deformity And Alopecia
Alopecia, Short stature OMIM:188150
Nicolaides-Baraitser Syndrome
Cryptorchidism, Curly eyelashes, Highly arched eyebrow, Sparse hair, Blepharophimosis, Abnormal t... ORPHA:3051
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Hypothyroidism, Membranous nep... OMIM:618999
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Hypogonadism, C... OMIM:608540
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Chronic otitis media, Aplasia/Hypoplasia of the thymus, We... ORPHA:33355
Classic Hodgkin Lymphoma
Skin rash, Pruritus, Osteolysis, Weight loss, Hepatomegaly, Splenomegaly, Bone marrow hypocellula... ORPHA:391
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Anemia, Splenom... OMIM:613313
Immunodeficiency 54
Postnatal growth retardation, Adrenocorticotropic hormone excess, Reduced natural killer cell cou... OMIM:609981
Aggressive Systemic Mastocytosis
Pruritus, Neutropenia, Maculopapular exanthema, Weight loss, Pancytopenia, Decreased liver functi... ORPHA:98850
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Pneum... OMIM:618806
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Hematuria, Proteinuria, Large vessel va... ORPHA:728
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Pityriasis Rubra Pilaris
Pustule, Pruritus, Abnormality of the nail, Erythroderma, Subungual hyperkeratosis, Eczema ORPHA:2897
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Discoid lupus rash, Rheumatoid factor positive, Malar ra... ORPHA:90280
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Congenital finger flexion contractures, Wrist flexion contracture, Gen... OMIM:208250
Neonatal Lupus Erythematosus
Skin rash, Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, A... ORPHA:398124
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Elevated hepatic transaminase... OMIM:613404
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Pericarditis, Malar rash, Antinuclear antibody positivity, Arthritis OMIM:609939
Primary Sclerosing Cholangitis
Pruritus, Thyroiditis, Weight loss, Jaundice, Palmar telangiectasia, Renal insufficiency, Osteopo... ORPHA:171
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Bronchiectasis, Pneumonia, Lymphocytic interstitial p... ORPHA:2968
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Premature graying of hair, Pterygium of nails, Ridged nail, Pancytopenia, Bone ma... OMIM:305000
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Crusting erythematous dermatitis, Inflammato... ORPHA:79147
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Joint stiffness, Osteoart... ORPHA:1345
Immunodeficiency 72 With Autoinflammation
Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, Increased B cell count, Increased ... OMIM:618982
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Skin rash, Chronic hepatitis due to cryptosporidium in... ORPHA:572
Synostosis of joints, Chronic otitis media, Corneal opacity, Hepatomegaly, Cataract, Inguinal her... ORPHA:61
Elevated hepatic transaminase, Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombo... ORPHA:507
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Synovitis, Reduced bone mineral density, Rheumatoid factor positive, Symmetric po... ORPHA:85435
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Increased circulating cortisol level, Hirsutism, Primary hypercortisolism, Hyperten... OMIM:615830
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly OMIM:226990
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Hypothyroidism, Uveitis, Hepatomegaly, My... ORPHA:3452
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Psoriasis 14, Pustular
Pustule, Leukocytosis, Polyarticular arthritis, Cholangitis, Oligoarthritis, Neutrophilia, Psoria... OMIM:614204
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613779
Familial Cold Urticaria
Conjunctivitis, Pruritus, Arthritis ORPHA:47045
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Short stature, Rhizomelia, Splenomegaly OMIM:602271
Chondrodysplasia Punctata 2, X-Linked Dominant
Epiphyseal stippling, Sparse hair, Erythroderma, Postnatal growth retardation, Tarsal stippling, ... OMIM:302960
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Absent eyelashes, Erythroderma, Unilateral renal agenesis, Absent eyebrow, Umbili... OMIM:308205
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia ORPHA:1010
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Lacrimal duct atresia, Absent eyelashes, Anonychia, Ankyloblepharon, Hyperconvex nail, Conjunctiv... OMIM:106260
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Corneal opacity, Synophrys, Conjunctivitis, Thick eyebrow, Ker... OMIM:602562
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Joint hemorrhage, Impaired platelet adhesion, Autoimmune thrombocytopenia, Gastro... ORPHA:324636
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Eczema, Psoriasiform dermatitis, Alopecia OMIM:617443
Avian Influenza
Myelitis, Acute kidney injury, Elevated hepatic transaminase, Lymphopenia, Increased circulating ... ORPHA:454836
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Renal angiomyolipoma, Molluscum... OMIM:260920
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Hematuria, Growth delay, Pulmonary arterial hypertension, Biliary tract ob... ORPHA:77259
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Flexion contracture, Severe short stature, Telecanthus, ... OMIM:203550
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Hepatomeg... OMIM:616828
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Upslanted palpebral fissure, Epicanthus, Hepatomegaly, Brittle hair, Short stature, Failure to th... ORPHA:50812
Crandall Syndrome
Aplasia/Hypoplasia of the eyebrow, Abnormal testis morphology, Brittle hair, Alopecia, Hypoplasia... ORPHA:202
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Moynahan Syndrome
Sparse hair, Cachexia, Alopecia, Short stature, Hypogonadism ORPHA:2574
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar he... OMIM:616050
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Failure to thrive, Intrauterine growth retardation, Nail dystrophy OMIM:616353
Cholestasis, Progressive Familial Intrahepatic, 1
Pruritus, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Severe short stature, Hepat... OMIM:211600
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Paronychia, Hepatomegaly, Alopecia of scalp, Decreased serum testostero... OMIM:201100
Generalized Eruptive Keratoacanthoma
Pruritus, Ectropion, Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology ORPHA:411777
Mucoepithelial Dysplasia, Hereditary
Hematuria, Pneumonia, Coarse hair, Melena, Nail dysplasia, Cataract, Nail dystrophy, Opacificatio... OMIM:158310
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Myocardial infarction, Congestive hea... ORPHA:108
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Alstrom Syndrome
Subcapsular cataract, Renal insufficiency, Otitis media, Hypergonadotropic hypogonadism, Tubuloin... OMIM:203800
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Failure to thrive, Anemia OMIM:615085
Farber Disease
Joint swelling, Abnormality of the elbow, Corneal opacity, Anemia, Lymphadenopathy, Osteoporosis,... ORPHA:333
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Short stature, Splenomegaly OMIM:607616
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Intracranial hemorrhage, Chronic otitis media, Weight ... ORPHA:3226
Agel Amyloidosis
Pruritus, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Sparse hair, Lattice ... ORPHA:85448
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Leukopenia, Hypersplenism, Pulmonary arterial hypertension, Anemia, Bone-... OMIM:278000
Reactive Arthritis
Inflammation of the large intestine, Pustule, Abnormality of the nail, Pericarditis, Aortic regur... ORPHA:29207
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Intracranial hemorrhage, ... ORPHA:340
Corneodermatoosseous Syndrome
Onycholysis, Erythroderma, Hypomature dental enamel, Short stature, Corneal dystrophy OMIM:122440
Eec Syndrome
Abnormal dental enamel morphology, Nail pits, Coarse hair, Slow-growing hair, Vesicoureteral refl... ORPHA:1896
Poems Syndrome
Acrocyanosis, Thrombocytosis, Sclerosis of hand bone, Increased circulating antibody level, Polyc...