Gene Summary

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

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 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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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, Inflammatory abnormality of the skin, Alopecia, Recurrent ... ORPHA:499
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Inflammation of the large intestine, Polyarticular... OMIM:619281
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Erythroid hypoplasia, Anemia OMIM:618312
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Skin rash, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, C... OMIM:603552
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Autoimmunity, Arthritis OMIM:216950
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... OMIM:615615
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Anti-dsDNA antibody positivity, Lupus nephritis, ... OMIM:614420
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Cystic acne, Knee flexion contracture, Sterile arthritis, Colitis, Arthritis,... OMIM:604416
Immunodeficiency 42
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly, Chronic oral candidiasis, ... OMIM:616622
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Failure to thriv... OMIM:615285
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Thrombocythemia 3
Ischemic stroke, Thrombocytosis OMIM:614521
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Anemia, Skin rash, Alopecia, Short s... ORPHA:47
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Agammaglobulinemia, Monocytosis, Dec... OMIM:615592
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Polycythemia Vera
Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Splenomegaly, Gastrointestinal ... OMIM:263300
Leukocytosis, Cervical lymphadenopathy, Tachycardia, Anemia, Skin rash, Abnormal nasopharyngeal a... ORPHA:3392
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Recurrent s... OMIM:612840
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Colitis, Ac... OMIM:300635
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Refractory anemia, Monocytosis, Eczema, Acute myeloid le... OMIM:616871
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Skin rash, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Neutropenia, Alopecia, Arthritis, Eosino... OMIM:304790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... OMIM:601457
Omenn Syndrome
Leukocytosis, Anemia, Abnormal lymphocyte morphology, Alopecia, Hepatomegaly, Eosinophilia, Eryth... ORPHA:39041
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Increased circulating antibody level, Leukemia, Autoimmune thrombocytopenia, Pa... OMIM:614470
Muckle-Wells Syndrome
Delayed puberty, Camptodactyly of finger, Vasculitis, Anemia, Recurrent aphthous stomatitis, Skin... ORPHA:575
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Hepatomegaly, T lymphocytopenia, Recurrent o... OMIM:608971
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Anemia, Skin rash, Myositis, Hepatomegaly, Lymphopenia, Elevated hepatic transamin... OMIM:617591
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
C1Q Deficiency 1
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity OMIM:613652
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Alopecia, Erythroderma,... OMIM:603554
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, ... OMIM:300400
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnor... ORPHA:2688
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... OMIM:209950
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Wilson Disease
Acute hepatic failure, Acute hepatitis, Jaundice, Joint swelling, Pathologic fracture, Anemia, He... ORPHA:905
Adult-Onset Still Disease
Myocarditis, Generalized lymphadenopathy, Leukocytosis, Joint swelling, Skin rash, Bone marrow hy... ORPHA:829
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Recurrent pneumonia, Follicular hyperplasia, Bronchiectasis... OMIM:240500
Dysplasia Of Head Of Femur, Meyer Type
Congenital hip dislocation, Leukocytosis, Multicentric femoral head ossification, Delayed femoral... ORPHA:168621
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentration, Al... OMIM:615559
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Macrocyti... ORPHA:86841
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Anemia, Skin rash, Abnormality of neutrophils, Abnormal ly... ORPHA:229717
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
Classic Mycosis Fungoides
Skin rash, Abnormality of the nail, Hepatomegaly, Alopecia, Abnormal lymphocyte morphology, Pruri... ORPHA:2584
Immunodeficiency 46
Intermittent thrombocytopenia, Anemia, Chronic oral candidiasis, Failure to thrive, Conjunctiviti... OMIM:616740
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Abnormal lymphocyte morphology, Chronic oral candidiasis, Recu... OMIM:613953
Hyperglycemia, Hyperinsulinemia OMIM:616214
Schnitzler Syndrome
Increased bone mineral density, Vasculitis, Leukocytosis, Anemia, Skin rash, Hepatomegaly, Arthri... ORPHA:37748
Autosomal Agammaglobulinemia
Chronic otitis media, Epicanthus, Skin rash, Arthritis, Failure to thrive, Hepatitis, Sinusitis, ... ORPHA:33110
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Skin rash, Recurrent aphthous stomatitis, Arthritis, Lymphadenopathy, Splenomegaly,... OMIM:611762
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Recurrent otitis media, Re... OMIM:617585
Sézary Syndrome
Ectropion, Hepatomegaly, Alopecia, Abnormal lymphocyte morphology, Erythroderma, Pruritus, Lympha... ORPHA:3162
Muckle-Wells Syndrome
Maculopapular exanthema, Leukocytosis, Polyarticular arthritis, Recurrent aphthous stomatitis, Re... OMIM:191900
Juvenile Temporal Arteritis
Vasculitis, Leukocytosis, Eosinophilia, Allergic rhinitis, Cerebral ischemia, Conjunctivitis ORPHA:26137
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Jaundice, Extramedullary hematopoiesis, Renal cyst, Cholestasis, Hepatomegaly, Prolonged... ORPHA:79303
Beta-Thalassemia Intermedia
Leukocytosis, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Proximal tubulopathy, Increase... ORPHA:231222
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Acute hepatic failure, Cardiac arrest, Tubulointerstitial nephritis, Skin rash, Rena... ORPHA:139402
Griscelli Syndrome
Jaundice, Iris hypopigmentation, Leukopenia, Abnormal eyelash morphology, Abnormal eyebrow morpho... ORPHA:381
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Maculopapular exanthema, Polyarticular arthritis, Skin rash, Erysipelas, Cervical... OMIM:142680
Immunodeficiency 92
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence... OMIM:619652
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Skin rash OMIM:619175
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Macrocytic anemia, Thrombocyto... OMIM:301054
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Small for gestational age, Failure to thrive in infancy, Decreased prop... OMIM:617241
Poikiloderma With Neutropenia
Leukopenia, Joint stiffness, Skin rash, Low posterior hairline, Blepharitis, Short stature, Incre... OMIM:604173
Congenital Atransferrinemia
Hypothyroidism, Abnormality of the pancreas, Arthritis, Anemia ORPHA:1195
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, B lymphocytopenia, Hypothyroidism, Erythema nodosum, Recurrent pneumonia, Thrombocytopen... OMIM:614700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Alopecia universalis, Decreased CD4:CD8 ratio, Hemolytic anemia, Patchy alope... OMIM:606367
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... ORPHA:232
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Knee osteoarthritis, Joint subluxation, Autoimmunity, Stiff shoulder... ORPHA:2619
Farber Lipogranulomatosis
Ulnar deviation of the wrist, Osteolysis involving bones of the feet, Joint swelling, Hyperextens... OMIM:228000
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Thrombocythemia 2
Thrombocytosis OMIM:601977
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Failure to thrive secondary to ... ORPHA:169160
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Cholestasis, Cardiomyopathy, Hepatomegaly, Nail dystrophy, Lymphadenitis, Splenomeg... OMIM:615895
Clouston Syndrome
Cataract, Nail dysplasia, Absent axillary hair, Onycholysis, Fine hair, Brittle hair, Blepharitis... OMIM:129500
Dominant Beta-Thalassemia
Delayed puberty, Hypopituitarism, Chronic hepatitis, Diabetes mellitus, Hypoparathyroidism, Upsla... ORPHA:231226
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Maculopapular exanthema, Extramedullary hematopoiesis, Increased mean ... ORPHA:822
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Increased c... ORPHA:824
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Lymphopenia, Arthritis, Eosinophilia ORPHA:2582
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Uveitis, Arthritis, Conjunctivitis OMIM:120100
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Skin rash, Uveitis, Arthritis, Eosinophilia, Patellar o... OMIM:607115
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Hemophagocytosis, Chronic hepatiti... ORPHA:39812
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, Type I diabetes mellitus, T-cell acute lymphobla... OMIM:620044
Pfapa Syndrome
Hepatomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:42642
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Felty Syndrome
Chronic otitis media, Abnormal joint morphology, Hepatomegaly, Episcleritis, Synovitis, Osteolysi... ORPHA:47612
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent aphthous stomatitis, Leukemia, Acute lymphoblastic leukemia, Neutropen... ORPHA:486
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Majeed Syndrome
Hepatosplenomegaly, Delayed puberty, Inflammatory abnormality of the skin, Joint swelling, Skin r... OMIM:609628
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Elevated circulating aspartate aminotransferase concentration, Elevated... ORPHA:158061
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Alopecia, Lymphadenopathy, Growth delay, Splenomegaly, Ascites ORPHA:100025
Mixed Connective Tissue Disease
Myocarditis, Pulmonary arterial hypertension, Osteolysis, Leukopenia, Hemolytic anemia, Skin rash... ORPHA:809
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Oliver-Mcfarlane Syndrome
Delayed puberty, Small for gestational age, Long eyelashes, Cryptorchidism, Severe short stature,... OMIM:275400
Hypocomplementemic Urticarial Vasculitis
Proteinuria, Small vessel vasculitis, Skin rash, Uveitis, Renal insufficiency, Hepatomegaly, Join... ORPHA:36412
Heinz Body Anemias
Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia OMIM:140700
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Knee osteoarthritis, Oligoarthritis, Joint swelling, Enthesitis, Anemia, Join... ORPHA:85408
Dermatitis, Atopic
Cataract, Atopic dermatitis, Pruritus, Recurrent skin infections, Keratoconus, Allergic rhinitis,... OMIM:603165
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Zika Virus Disease
Maculopapular exanthema, Iris coloboma, Skin rash, Intrauterine growth retardation, Arthritis, Pr... ORPHA:448237
Sting-Associated Vasculopathy, Infantile-Onset
Raynaud phenomenon, Increased circulating IgA level, Malar rash, Leukopenia, Joint stiffness, Ski... OMIM:615934
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Keratitis, Nail dysplasia, Blepharitis, Enamel hypoplasia, Alopecia, Sparse eyebrow, Sc... OMIM:612843
Beta-Thalassemia Major
Delayed puberty, Hypopituitarism, Diabetes mellitus, Hypoparathyroidism, Hepatomegaly, Upslanted ... ORPHA:231214
Congenital Ichthyosiform Erythroderma
Corneal erosion, Ectropion, Abnormality of the nail, Short stature, Alopecia, Failure to thrive, ... ORPHA:79394
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Failure to thrive, Pneumonia, Absence of CD8-p... OMIM:269840
Lung abscess, Liver abscess, Abnormal parotid gland morphology, Osteoarthritis, Parotitis, Hepati... ORPHA:31202
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Majeed Syndrome
Abnormal inflammatory response, Increased bone mineral density, Proteinuria, Microscopic hematuri... ORPHA:77297
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Short stature, Cirrhosis, Conjunctivitis, Fragile nails,... OMIM:242150
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair ORPHA:55654
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... OMIM:259710
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Malar rash, Optic neuritis, Leukopenia, Mitral regurgitation, Autoimmune thro... OMIM:301080
Biotinidase Deficiency
Skin rash, Hepatomegaly, Alopecia, Seborrheic dermatitis, Recurrent skin infections, Decreased ci... OMIM:253260
Reduced bone mineral density, Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepat... ORPHA:848
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Lipodystrophy, Cholestatic liver disease, Proteinuria, Hemophagocytosis, Arth... OMIM:619858
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Conjunctivitis, Recurrent otitis media, Re... OMIM:613493
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Monocytosis, Recurrent pneumonia, ... OMIM:619644
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Oligoarthritis, Failure to thrive in infancy, Lymphopenia... OMIM:619510
Autoimmune Polyendocrine Syndrome, Type Ii
Keratoconjunctivitis, Cataract, Thymoma, Asplenia, Chronic hepatitis, Chronic mucocutaneous candi... OMIM:269200
Talo-Patello-Scaphoid Osteolysis
Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Enlarged joints, Synovitis ORPHA:50809
Myocarditis, Leukocytosis, Granuloma, Increased circulating IgM level, Transient ischemic attack,... ORPHA:1304
Hypotrichosis 4
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair OMIM:146550
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, B lymphocytopenia, Conjunctivitis... OMIM:612692
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Alopecia, Growth delay, Thrombocytopenia, Perioral eczema, Eczema, Organic ... ORPHA:79242
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Hematochezia, Elevated circulating aspartate aminotransferase concen... OMIM:613812
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Nephrocalcinosis, Asplenia, Chronic active hepatitis, Hypoparathyroidism, C... OMIM:240300
Alopecia Universalis Congenita
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair OMIM:203655
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Failure to... OMIM:617514
Trimethylaminuria, Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Splenomegaly, Neutropenia OMIM:602079
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Pruritus, Sparse pubic hair, Sparse scalp hair ORPHA:505
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Stroke, Leukocytosis, Erythema nodosum, Hepatosplenomegaly, Vasculitis, Renal artery aneurysm, Le... OMIM:615688
Juvenile Idiopathic Arthritis
Abnormal joint morphology, Nail pits, Joint swelling, Joint stiffness, Skin rash, Uveitis, Abnorm... ORPHA:92
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Allergic rhinitis, Autoimmunity OMIM:131430
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Cryoglobulinemic Vasculitis
Vasculitis, Proteinuria, Abnormality of the liver, Viral hepatitis, Renal insufficiency, Keratoco... ORPHA:91138
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Cachexia, Gastritis, Nail d... ORPHA:37042
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Granuloma, Colitis, Foam cells, Hepatosplenomegaly, Lymphopenia, Thrombocytopen... OMIM:619802
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Stroke, Vasculitis, Arteriosclerosis, Arterial fibromuscular dysplasia, ... ORPHA:494424
Peeling Skin Syndrome 1
Onycholysis, Brittle hair, Short stature, Eosinophilia, Pruritus, Nail dystrophy, Erythroderma OMIM:270300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Conjunctival icterus, Increased mean corpu... OMIM:194380
Osteochondrosis Of The Tarsal Bone
Chondritis, Osteochondritis dissecans, Abnormal tarsal ossification, Arthritis, Tarsal sclerosis,... ORPHA:563991
Porphyria, Congenital Erythropoietic
Jaundice, Osteolysis, Pink urine, Hemolytic anemia, Pathologic fracture, Red urine, Corneal scarr... OMIM:263700
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Elevated leukocyte alkaline phosphatase OMIM:162830
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Arthritis, Congestive heart failure, Hypogon... OMIM:602390
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails,... ORPHA:2722
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Vasculitis, Leukocytosis, Orchitis, Skin rash, Erysipelas, Uveitis, Myositis, Abnorm... ORPHA:32960
Cogan Syndrome
Vasculitis, Keratitis, Leukocytosis, Anemia, Large vessel vasculitis, Scleritis, Uveitis, Aortic ... ORPHA:1467
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Hepatomegaly, Lymphadenopathy, Anterior... ORPHA:85414
Legionnaires Disease
Myocarditis, Jaundice, Proteinuria, Endocarditis, Hypotension, Pancreatitis, Bone marrow hypocell... ORPHA:549
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhos... OMIM:607765
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Maculopapular exanthema, Abnormal renal physiology, Hemophag... ORPHA:540
Immunodeficiency 7
Hypereosinophilia, Patchy alopecia, Autoimmune hemolytic anemia, Hepatomegaly, Chronic oral candi... OMIM:615387
Neutropenia, Severe Congenital, X-Linked
Eczema, Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Dystrophic fingernails, Blepharitis, Ectropion, Corneal dystrophy, Sparse eyebrow, Sca... OMIM:308800
Autoimmune Polyendocrinopathy Type 4
Thymoma, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocytic an... ORPHA:227990
Hypotrichosis 11
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... OMIM:615059
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Hypertension, Thrombocytosis, Nephritis,... OMIM:614034
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Lymphopenia, Reduced natural killer cell count, B lymp... OMIM:614172
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids OMIM:609655
Autoimmune Polyendocrinopathy Type 3
Thymoma, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocytic an... ORPHA:227982
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Polyarticular arthritis, Uveitis, Autoimmune hemolytic anemia, Keratoconjuncti... OMIM:617388
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Pulmonary arterial hypertension, Small for gestational age, Extramedullary hematopoiesis, Anemia,... OMIM:617021
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Hypotension, Abnormality of the liver, Hepatomegaly, Pruritus, Gastr... ORPHA:79456
Trichohepatoenteric Syndrome 2
Small for gestational age, Chronic hepatitis, Trichorrhexis nodosa, Uncombable hair, Brittle hair... OMIM:614602
Copper Deficiency, Familial Benign
Anemia, Curly hair, Early balding, Failure to thrive, Seborrheic dermatitis OMIM:121270
Ichthyosis With Confetti
Hypoplastic nipples, Ectropion, Short stature, Pruritus, Hypertrichosis, Decreased body weight, E... OMIM:609165
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Alopecia universalis, Abnormal eyelash morphology, Periodontitis, Sparse scalp ... ORPHA:1008
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Delayed puberty, Nail dysplasia, Erysipelas, Hepatomegaly, Alopecia, Sparse eyebrow, Gr... OMIM:615704
Papa Syndrome
Proteinuria, Increased inflammatory response, Pustule, Arthritis, Acne, Lymphadenopathy, Crohn's ... ORPHA:69126
Immunodeficiency 76
Colitis, Lymphopenia, Recurrent pneumonia, B lymphocytopenia, Lymphadenopathy, Growth delay, Sple... OMIM:619164
Peritonitis, Myocarditis, Leukocytosis, Cholestasis, Urethritis, Splenic abscess, Microangiopathi... ORPHA:810
Alopecia Areata 1
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis OMIM:104000
Kid Syndrome
Onychogryposis, Keratoconjunctivitis sicca, Punctate keratitis, Trichilemmoma, Sparse eyebrow, Na... ORPHA:477
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Sinusitis, Thromb... OMIM:226990
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Kawasaki Disease
Myocarditis, Jaundice, Vasculitis, Leukocytosis, Cervical lymphadenopathy, Proteinuria, Skin rash... ORPHA:2331
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Enteroviral hepatitis, Short stature, Decreased response to growth hormone stimu... OMIM:307200
Netherton Syndrome
Hypereosinophilia, Brittle hair, Chronic rhinitis, Failure to thrive, Recurrent skin infections, ... OMIM:256500
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Osteoporosis, Hepatomega... ORPHA:79301
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... OMIM:247800
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Pulmonic stenosis, Chronic mucocutaneous candidiasis, Alopecia, Chronic oral c... OMIM:618282
Galactose Epimerase Deficiency
Cataract, Jaundice, Hepatomegaly, Aminoaciduria, Growth delay, Splenomegaly, Weight loss ORPHA:79238
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Short stature, Arthritis ORPHA:1937
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Diffuse hepatic steatosi... ORPHA:2137
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Alopecia Universalis
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes ORPHA:701
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Failure to thrive, ... OMIM:614480
Erythrokeratodermia Variabilis
Cataract, Skin rash, Diabetes mellitus, Abnormal testis morphology, Abnormality of the nail, Alop... ORPHA:317
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Lupus nephritis, Arthritis, Thrombocytopenia, Nephritis... OMIM:152700
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Alopecia, Nail dystrophy, Decreased helper T cell proportion, T lymphocyt... OMIM:601705
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Chronic hepatitis, Hemolytic anemia, Ankle clonus, Hepatomegaly, Enteroviral encephal... OMIM:308230
Abnormal hair quantity, Eczematoid dermatitis, Elevated circulating growth hormone concentration,... ORPHA:2796
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Cataract, Camptodactyly, Jaundice, Cryptorchidism, Epicanthus, Brushfie... OMIM:214110
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 59 And Hypoglycemia
Acne inversa, Decreased proportion of class-switched memory B cells, Complete or near-complete ab... OMIM:233600
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Interface hepatitis, Hematochezia, Impaired lymphocyte transformation w... OMIM:243150
Sea-Blue Histiocyte Disease
Absent axillary hair, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Cholestasis... OMIM:620010
Hemochromatosis, Type 3
Anemia, Cardiomyopathy, Lymphopenia, Arthritis, Neutropenia OMIM:604250
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lipoatrophy, Absence of subcutaneous fat, Lymphadenitis, Al... ORPHA:90156
Recurrent cutaneous abscess formation, Skin rash, Arthritis, Pruritus, Cellulitis, Limitation of ... ORPHA:231
Q Fever
Myocarditis, Maculopapular exanthema, Granuloma, Hepatomegaly, Hepatosplenomegaly, Vasculitis, En... ORPHA:781
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Arthritis, A... OMIM:616100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Alopecia, Bilateral cryptorchidism, Erythroderma, Hypospadias OMIM:618840
Bullous Impetigo
Septic arthritis, Recurrent bacterial skin infections, Pustule, Abnormality of the lymphatic system ORPHA:36237
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Skin rash, Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infec... ORPHA:276
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... OMIM:261000
Mu-Heavy Chain Disease
Abnormal B cell count, Osteolysis, Bence Jones Proteinuria, Anemia, Osteoporosis, Hepatomegaly, N... ORPHA:100024
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Eczematoid dermatitis, Lymphopenia, Failure to thrive, Recurrent pneumonia, B... OMIM:242700
X-Linked Dominant Chondrodysplasia Punctata
Hip dislocation, Patellar dislocation, Anterior rib punctate calcifications, Sparse eyebrow, Epip... ORPHA:35173
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Reduced natural killer cell a... OMIM:308240
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Inguinal hernia, Intermittent thrombocytopenia, Hepatomegaly, Perianal abscess, Hepatosplenomegal... OMIM:612541
Syndromic Diarrhea
Polycystic kidney dysplasia, Inguinal hernia, Brittle hair, Hepatomegaly, Colitis, Gastritis, Hyp... ORPHA:84064
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Coronary Artery Disease, Autosomal Dominant 2
Gout, Osteoporosis, Hypertension, Premature coronary artery atherosclerosis, Sudden cardiac death... OMIM:610947
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Sandhoff Disease
Hepatomegaly, Failure to thrive, Cherry red spot of the macula, Congestive heart failure, Splenom... ORPHA:796
Immunodeficiency 9
Hypoplasia of the thymus, Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta, Fai... OMIM:612782
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Leukopenia, Joint stiffness, Hepatomegaly, Short stature, Lymphopen... OMIM:620210
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Absent tonsils, Lymphopenia, Failure to thrive, Pulmonary i... ORPHA:277
Hurler-Scheie Syndrome
Cardiomyopathy, Hepatomegaly, Short stature, Abnormality of the tonsils, Hernia, Limitation of jo... ORPHA:93476
Mueller-Weiss Syndrome
Knee osteoarthritis, Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Arth... ORPHA:566943
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Osteoporosis, Abnormal mast cell morphology, Hepatomegaly, Pr... ORPHA:98848
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Intrauterine growth retardation, Chilblains, Thrombocytopenia, Sp... OMIM:615010
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Thick hair, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Alope... OMIM:607626
Takayasu Arteritis
Pulmonary arterial hypertension, Vasculitis, Anemia, Hypertension, Arthritis, Ascending tubular a... ORPHA:3287
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Rheumatoid arthritis OMIM:270150
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Jaundice OMIM:206400
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Trichorrhexis nodosa, Chronic neutropenia, Curly hair, Short eyelashes, Concave ... OMIM:258360
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Systemic lupus erythematosus, Antinuclear antibody positivity, Pericarditis OMIM:609939
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Quinquaud Folliculitis Decalvans
Patchy alopecia, Recurrent skin infections, Scarring alopecia of scalp, Scarring, Abnormal hair m... ORPHA:346
Peritonitis, Stroke, Myocarditis, Hepatic granulomatosis, Splenic abscess, Stiff neck, Liver absc... ORPHA:533
Porphyria Cutanea Tarda
Chronic hepatitis, Diabetes mellitus, Hirsutism, Cutaneous abscess, Elevated hepatic iron concent... ORPHA:101330
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Hashimoto thyroiditis, Abnormality of the ductus choledochus, Autoimmun... ORPHA:436252
Wiskott-Aldrich Syndrome
Chronic otitis media, Hemolytic anemia, Intracranial hemorrhage, Internal hemorrhage, Epistaxis, ... ORPHA:906
Cronkhite-Canada Syndrome
Cataract, Sparse body hair, Patchy alopecia, Anemia, Dystrophic fingernails, Hepatomegaly, Alopec... ORPHA:2930
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Inflammatory abnormality of the skin, Chronic hepatitis, Intracranial hemorrhage, C... ORPHA:3260
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Rat-Bite Fever
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Anemia, Sk... ORPHA:31205
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Acne, Hirsutism, Obesity OMIM:604931
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Cheilitis, Pustule, Corneal erosion, Blepharitis, Abnor... ORPHA:37
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Lymph node hypoplasia, T lymphocytopenia... OMIM:300755
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Decreased circulating I... OMIM:619773
Congenital Enterovirus Infection
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hypotension, Anemia, Chole... ORPHA:292
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Nail dysplasia, Anemia, Corneal scarring, Alopecia, Enamel hypoplasia, Growth delay, Na... OMIM:226600
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Short stature, Failure to thrive, Lymphadenopathy, Pneumonia, Eczema, Sp... OMIM:607271
Hepatocellular Carcinoma
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis OMIM:114550
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid factor positive, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the thyroid gland, Hepatomegaly, Short stature, Abnormal calcium-phosphate regulat... ORPHA:417
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney disease, Diabetes m... ORPHA:79147
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Arthropathy, Arrhythmia, Osteoporosis, Cardiomyopat... OMIM:235200
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Congenital onychodystrophy, Alopecia universalis, Brittle hair, Alopecia, Absen... ORPHA:2890
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Ectopia lentis, Anemia, Hypoplastic toenails, Alopecia, Abnormal fingernail mo... ORPHA:2325
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Inguinal hernia, Cholestatic liver disease, Anemia, Severe postnatal growth ... ORPHA:440713
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Chondritis, Osteochondrosis, Progressive joint destructi... ORPHA:564003
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Pruritus, Restrictive cardiomyopathy, Sp... OMIM:607685
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... OMIM:616329
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Pruritus, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:86893
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Alopecia, Atrophic gastritis, Recurrent skin infections, Thrombocyto... OMIM:616576
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... ORPHA:859
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Vasculitis... OMIM:601859
Lichen Planopilaris
Onycholysis, Alopecia, Abnormal fingernail morphology, Hepatitis, Pruritus, Pterygium ORPHA:525
Primary Sjögren Syndrome
Chronic active hepatitis, Chronic hepatitis, Keratoconjunctivitis sicca, Decreased proportion of ... ORPHA:289390
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Abnormal T cell morphology, Decreased circula... OMIM:613502
Pseudoprogeria Syndrome
Joint stiffness, Alopecia, Short stature, Absent eyelashes, Failure to thrive, Absent eyebrow, Sp... ORPHA:2985
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Netherton Syndrome
Hydronephrosis, Trichorrhexis nodosa, Skin rash, Fine hair, Ectopic kidney, Short stature, Sparse... ORPHA:634
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Anti-dsDNA antibody positivity, Anti-La/SS-B an... ORPHA:90283
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteolysis, Inflammation of the large intestine, Vasculitis, Anemia,... ORPHA:324964
Trichothiodystrophy 1, Photosensitive
Cataract, Trichoschisis, Small for gestational age, Tiger tail banding, Trichorrhexis nodosa, Hyp... OMIM:601675
Roifman Syndrome
Noncompaction cardiomyopathy, Eczema, Downslanted palpebral fissures, Intrauterine growth retarda... OMIM:616651
Nicolaides-Baraitser Syndrome
Long eyelashes, Curly eyelashes, Severe short stature, Cryptorchidism, Downslanted palpebral fiss... ORPHA:3051
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail OMIM:614928
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, Nephrolit... OMIM:617321
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Galactosemia Iii
Jaundice, Galactosuria, Hepatomegaly, Failure to thrive, Decreased beta-galactosidase activity, A... OMIM:230350
Amyloidosis, Familial Visceral
Proteinuria, Skin rash, Cholestasis, Hypertension, Hepatomegaly, Nephropathy, Nephrotic syndrome,... OMIM:105200
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Increased circulating metamyelocyte count, Hypotension, Increased circu... ORPHA:36234
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Arthralgia/arthritis ORPHA:411593
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Progressive Familial Intrahepatic Cholestasis
Jaundice, Reduced bone mineral density, Cholestasis, Hepatomegaly, Short stature, Failure to thri... ORPHA:172
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum... OMIM:615214
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Pulmonary embolism, Thrombocytosis, Iron deficiency anemia, Decreased circulating antibod... OMIM:226300
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Eczematoid dermatitis, Atypical or prolonged hepatitis, Coombs-positive hem... ORPHA:83471
Immunodeficiency 68
Abscess, Lymphadenitis, Septic arthritis, Abnormal natural killer cell count, Recurrent skin infe... OMIM:612260
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Punctate opacification of the cornea, Hepatomegaly, Flexion contracture ... OMIM:256040
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Diabetes mellitus, Hepatic bridging fibrosis, Osteoporosis... ORPHA:139507
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse body hair, Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Sparse eyebrow, Scarr... ORPHA:59303
Familial Thrombocytosis
Pulmonary arterial hypertension, Acute myeloid leukemia, Syncope, Chronic myelogenous leukemia, T... ORPHA:71493
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Camptodactyly, Hashimoto thyroiditis, Failure to thrive in infancy, Hepa... OMIM:613385
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Proteinuria, Malar rash, Microangiopathic hemolytic anemia, Leukopenia, Skin ... ORPHA:93552
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Inflammatory abnormality of the skin, B lymphocytopenia, Hepatosplenomegaly, Gen... ORPHA:391487
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Punctate keratitis, Sparse eyebrow, Scarring alopecia of scalp, Sparse eyelashe... OMIM:602540
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent otit... OMIM:300853
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Stomatitis, Anemia, Seborrheic dermatitis, Thrombocytopenia, Neutro... OMIM:246400
Eosinophilic Fasciitis
Acrocyanosis, Arthritis, Eosinophilia, Fasciitis, Myositis, Abnormal eosinophil morphology ORPHA:3165
Parc Syndrome
Absent eyebrow, Alopecia, Absent eyelashes OMIM:600331
Epicanthus, Brittle hair, Keratoconjunctivitis sicca, Cardiomyopathy, Joint dislocation, Fragile ... ORPHA:33364
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse body hair, Anonychia, Hyperconvex nail, Patchy alopecia, Micropenis, Supernumerary nipple,... OMIM:106260
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Increased bone mineral density, Mydriasis, Leukocytosis, Extramedullary hemat... OMIM:259720
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Epicanthus, Hepatomegaly, Osteopenia, Nephrotic syndrome, Failure to thri... OMIM:269920
Alpha-1-Antitrypsin Deficiency
Jaundice, Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure ORPHA:60
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Camptodactyly, Acute he... ORPHA:228426
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Myasthenia Gravis
Raynaud phenomenon, Hemolytic anemia, Hashimoto thyroiditis, Pure red cell aplasia, Glycosuria, H... ORPHA:589
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Skin rash, Colitis, ... OMIM:301074
Scrub Typhus
Myocarditis, Hypotension, Skin rash, Renal insufficiency, Infectious encephalitis, Lymphadenopath... ORPHA:83317
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, S... OMIM:615631
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Vasculitis, Leukopenia, Alopecia, Abnormal lymph node morphology, Thro... ORPHA:50918
Aggressive Systemic Mastocytosis
Leukocytosis, Maculopapular exanthema, Pathologic fracture, Abnormal mast cell morphology, Elevat... ORPHA:98850
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Refractory Anemia
Normocytic anemia, Abnormal cardiac ventricular function, Bone marrow hypocellularity, Anemia of ... ORPHA:98826
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus OMIM:606176
Inflammatory Skin And Bowel Disease, Neonatal, 1
Onychogryposis, Blepharitis, Failure to thrive, Paronychia, Pustule, Erythroderma OMIM:614328
Lamellar Ichthyosis
Chronic otitis media, Ectropion, Renal insufficiency, Abnormality of the nail, Short stature, Pru... ORPHA:313
Generalized Eruptive Histiocytosis
Hypereosinophilia, Maculopapular exanthema, Leukemia, Histiocytosis, Pruritus, Lymphadenopathy, E... ORPHA:157991
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Colitis, Gastritis, Decreased proportion of CD4-positive helper T cells, Vasculitis... ORPHA:3261
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Enlarged kidney, Skin rash, Abnormality of connective tissue, Keratoconjuncti... ORPHA:79128
Cholestasis-Lymphedema Syndrome
Jaundice, Erysipelas, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transami... OMIM:214900
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Hepatomegaly, Congestive heart failure, Pericarditis, Splenomegaly ORPHA:163596
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Chronic kidney disease, Anemia, Renal cyst, Intrauterine growth retardation, Short stature,... OMIM:617056
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Osteoarthritis, Short stature, Arthritis, Joint dislocation, ... ORPHA:53
American Trypanosomiasis
Myocarditis, Skin rash, Arrhythmia, Cardiomyopathy, Hepatomegaly, Infectious encephalitis, Lympha... ORPHA:3386
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Cholestatic liver disease, Proteinuria, Nephrocalcinosis, Glycosuria, Nephrogenic diabe... OMIM:613404
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Ectropion, Alopecia, Nail dystrophy, Sparse hair, Flexion contracture, Erythroderma OMIM:242300
Symptomatic Form Of Hfe-Related Hemochromatosis
Stiff interphalangeal joints, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Hypothyroidism, De... ORPHA:465508
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Molluscum contagiosum, Herpes simplex encephalitis, Recurrent otitis media, I... OMIM:618982
H Syndrome
Delayed puberty, Enlarged kidney, Abnormal eyebrow morphology, Diabetes mellitus, Facial telangie... ORPHA:168569
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Epicanthus, Cholestasis, Diabetes mellitus, Hepatomegaly, Elevated c... OMIM:610199
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Recurrent aphthous stomatitis, Abscess, Chronic oral candidiasis, ... OMIM:150550
Avian Influenza
Acute kidney injury, Leukopenia, Elevated hepatic transaminase, Lymphopenia, Increased circulatin... ORPHA:454836
Hemochromatosis, Type 4
Cataract, Anemia, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Hepatomegaly, Osteoarthritis, Ci... OMIM:606069
Crimean-Congo Hemorrhagic Fever
Myocarditis, Leukocytosis, Hepatomegaly, Acute pancreatitis, Bundle branch block, Neutrophilia, B... ORPHA:99827
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Epicanthus, Enlarged kidney, Heavy proteinuria, Tricuspid regurgitation, Hypertrophic cardiomyopa... ORPHA:505248
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Skin rash, Renal ins... ORPHA:567544
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Synophrys, Downslanted palpebral fissures, Ectropion, Thick eyebrow, Conjunctivitis, Recurrent ot... OMIM:602562
Myocarditis, Peritonitis, Urethritis, Cachexia, Abnormality of the spleen, Decreased proportion o... ORPHA:2552
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Chilblains, Hypertrophic cardiomyopathy, Hypothyroidism, Vasculit... OMIM:615846
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Coronal craniosynostosis, Metopic depression, Extramedullary hematopoiesis, M... ORPHA:313855
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Cholestatic liver disease, Small for gestational age, Nephrocalcinosis, Reduced renal c... OMIM:208085
Thumb Deformity And Alopecia
Short stature, Alopecia OMIM:188150
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Limitation of joint mobility, Rheumatoid arthritis ORPHA:399180
Reticular Dysgenesis
Chronic otitis media, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anemia, Abnormalit... ORPHA:33355
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Pityriasis Rubra Pilaris
Abnormality of the nail, Pruritus, Subungual hyperkeratosis, Eczema, Pustule, Erythroderma ORPHA:2897
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Failure to thrive, Absent circulating B cells, Seborrheic dermatitis, Thro... OMIM:619693
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Red urine, Red-brown urine, Osteolysis, Recurrent bacter... ORPHA:95159
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Generalized morning stiffness, Arthropathy, Arthritis, Congenital finger flexion contractures, Wr... OMIM:208250
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Skin rash, Hepatomegaly, Anemia of inadequate production, Osteopenia, Failure to thrive... OMIM:612714
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Recurrent ... OMIM:613501
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Fibrodysplasia Ossificans Progressiva
Anemia, Synostosis of joints, Alopecia, Failure to thrive, Ectopic ossification in ligament tissu... ORPHA:337
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... OMIM:619658
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Relapsing Polychondritis
Myocarditis, Cataract, Keratitis, Proteinuria, Chondritis, Recurrent aphthous stomatitis, Sclerit... ORPHA:728
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Nail dystrophy, Abnormally low T cell receptor excision circle leve... OMIM:618806
Tyrosinemia Type 1
Hepatocellular carcinoma, Rickets of the lower limbs, Acute hepatic failure, Hepatomegaly, Spleno... ORPHA:882
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Hepatom... OMIM:618495
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Hyperconvex nail, Eczema, Intrauterine growth r... ORPHA:353298
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Increased circulating cortisol lev... OMIM:615830
Cataract, Chronic otitis media, Inguinal hernia, Hepatomegaly, Synostosis of joints, Arthritis, T... ORPHA:61
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Diabetes mellitus, Hepatomegaly, Sh... OMIM:612526
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Abscess, G... OMIM:618935
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Spider hemangioma, C... ORPHA:171
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Cherry red spot of the macula, Hepatosplenomegal... ORPHA:333
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Vasculitis... OMIM:603909
Hodgkin Lymphoma
Hepatomegaly, Pruritus, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:98293
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Anemia, Diffuse telangiectasia, Hy... OMIM:170100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Acute otitis media, Skin rash, Autoimmune t... ORPHA:572
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Arrhythmia, Hypertension, Pulmonary embolism, Osteoarthritis, Congestive heart f... ORPHA:1345
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Hip dislocation, Severe short stature, Severe postnatal growth retardation, Alopecia, Flexion con... OMIM:203550
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Short stature, Nephrotic ... OMIM:618999
Familial Cold Urticaria
Pruritus, Conjunctivitis, Arthritis ORPHA:47045
Gaucher Disease Type 1
Delayed puberty, Increased bone mineral density, Osteolysis, Pulmonary arterial hypertension, Leu... ORPHA:77259
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Porphyria Cutanea Tarda
Hepatocellular carcinoma, Facial hypertrichosis, Reduced uroporphyrinogen decarboxylase activity,... OMIM:176100
Immunodeficiency 54
Intrauterine growth retardation, Short stature, Reduced natural killer cell count, Hepatomegaly, ... OMIM:609981
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Chronic active hepatitis, Recurrent sinusitis OMIM:614379
Hypoplasia of the thymus, Delayed puberty, Abnormal hair morphology, Leukemia, Acute lymphoblasti... OMIM:208900
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Polyarticular arthritis, Joint swelling, Rheumatoid factor positive... ORPHA:85435
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Psoriasis 14, Pustular
Cholangitis, Oligoarthritis, Leukocytosis, Polyarticular arthritis, Psoriasiform dermatitis, Nail... OMIM:614204
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Stomatitis, Skin rash, Autoimmune thrombocytopenia, Recurrent bacterial skin ... ORPHA:911
Dyskeratosis Congenita, X-Linked
Horseshoe kidney, Pterygium of nails, Nail dystrophy, Acute myeloid leukemia, Cryptorchidism, Leu... OMIM:305000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto... OMIM:619375
Whipple Disease
Myocarditis, Hypotension, Anemia, Uveitis, Hepatomegaly, Cachexia, Arthritis, Infectious encephal... ORPHA:3452
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Wolff-Par... OMIM:619705
Classic Hodgkin Lymphoma
Osteolysis, Skin rash, Bone marrow hypocellularity, Hepatomegaly, Pruritus, Lymphadenopathy, Sple... ORPHA:391
Alstrom Syndrome
Chronic active hepatitis, Truncal obesity, Hepatomegaly, Hyperinsulinemia, Hypothyroidism, Insuli... OMIM:203800
Crandall Syndrome
Sparse body hair, Hypogonadism, Fine hair, Brittle hair, Alopecia, Hypoplasia of penis, Abnormal ... ORPHA:202
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Epicanthus, Brittle hair, Intrauterine growth retardation, Short stature, Alopecia, Hepatomegaly,... ORPHA:50812
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Renal angiomyolipoma, Skin rash, Molluscum contagiosum, Lymphad... OMIM:260920
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Severe short stature, Alopecia totalis OMIM:302000
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Cardiomyopathy, Hepatomegaly, Intrauterine growth retardation, Flexion contracture,... OMIM:608540
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Maculopapular exanthema, Hemolytic anemia, ... ORPHA:398124
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Generalized Eruptive Keratoacanthoma
Ectropion, Keratoconjunctivitis sicca, Pruritus, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 lev... OMIM:300310
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Epicanthus, Elevated circulating aspartate aminotransferase concentration, F... OMIM:611182
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Thrombocytopenia, Lymphadenopathy, Splenom... OMIM:613101
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Deep derma... OMIM:212050
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... OMIM:619707
Bleeding Disorder, Platelet-Type, 21
Alopecia, Thrombocytopenia, Psoriasiform dermatitis, Increased mean platelet volume, Eczema OMIM:617443
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Osteopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Ptosis OMIM:610539
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Cataract, Nail dysplasia, Chronic monilial nail infection, Alopecia, Eosino... OMIM:158310
Leukocyte Adhesion Deficiency
Peritonitis, Leukocytosis, Polycythemia, Chronic oral candidiasis, Perianal abscess, Hyperinsulin... ORPHA:2968
Raynaud phenomenon, Vasculitis, Proteinuria, Chronic kidney disease, Skin rash, Autoimmune thromb... ORPHA:1855
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ... ORPHA:507
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Short stature, Os... OMIM:259730
Gamma-Heavy Chain Disease
Osteolysis, Anemia, Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal... ORPHA:100026
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Diffuse mesangial sclerosis, Reduced red cell adenosine dea... OMIM:102700
Moynahan Syndrome
Hypogonadism, Cachexia, Alopecia, Short stature, Sparse hair ORPHA:2574
Felty Syndrome
Rheumatoid arthritis OMIM:134750
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Reactive Arthritis
Inflammation of the large intestine, Joint swelling, Enthesitis, Pustule, Recurrent aphthous stom... ORPHA:29207
Monosomy 22
Hepatosplenomegaly, Narrow palpebral fissure, Epicanthus, Joint swelling, Micropenis, Synophrys, ... ORPHA:96123
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Short stature, Arthritis, Failure to thrive, Septic arthritis, Osteomyelitis, Hypoc... OMIM:619423
Agel Amyloidosis
Cataract, Proteinuria, Corneal ulceration, Stage 5 chronic kidney disease, Bilateral ptosis, Abno... ORPHA:85448
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Cockayne Syndrome Type 2
Cryptorchidism, Uveitis, Hepatomegaly, Intrauterine growth retardation, Enamel hypoplasia, Scarri... ORPHA:90322
Autoimmune Hypoparathyroidism
Cataract, Increased bone mineral density, Abnormal left ventricular function, Calcium nephrolithi... ORPHA:36913
Cockayne Syndrome Type 1
Cataract, Proteinuria, Cryptorchidism, Anemia, Uveitis, Hypertension, Hepatomegaly, Enamel hypopl... ORPHA:90321
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Chondrodysplasia Punctata 2, X-Linked Dominant
Stippled calcification in carpal bones, Cataract, Hydronephrosis, Patchy alopecia, Rhizomelia, Do... OMIM:302960
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Chronic hepatitis, Hepatomegaly, Increased hepatic glycogen content, Hydronephro... OMIM:614921
Takayasu Arteritis