Gene Summary

Name:
signal transducer and activator of transcription 1
Synonyms:
2010005J02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 2.83×10-06
increased leukocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 5.16×10-10
decreased mean corpuscular volume Stat1tm2b(EUCOMM)Wtsi HOM Early adult 8.67×10-19
increased large unstained cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.54×10-07
abnormal gait Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.12×10-05
increased lymphocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.56×10-10
increased neutrophil cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.01×10-12
increased monocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.69×10-07
increased eosinophil cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 2.78×10-09
decreased circulating alkaline phosphatase level Stat1tm2b(EUCOMM)Wtsi HOM Early adult 5.25×10-06
enlarged lymph nodes Stat1tm2b(EUCOMM)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin Stat1tm2b(EUCOMM)Wtsi HOM Early adult 2.49×10-12
decreased bone mineral content Stat1tm2b(EUCOMM)Wtsi HOM   Early adult 4.71×10-05
decreased lymphocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 2.37×10-10
impaired righting response Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.12×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

3 Images

Human diseases caused by Stat1 mutations

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

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

The table below shows human diseases associated to Stat1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Stat1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ... OMIM:614372
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Dysplasia Of Head Of Femur, Meyer Type
Waddling gait, Leukocytosis, Enlarged tonsils, Delayed femoral head ossification, Antalgic gait, ... ORPHA:168621
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency 20
BCGitis, Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract i... OMIM:615707
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones OMIM:174810
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Impaired pain sensation, Eosinophilia, Lymphopenia ORPHA:2582
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u... ORPHA:3416
Immunodeficiency 48
Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... OMIM:269840
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections OMIM:615561
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t... ORPHA:564003
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... ORPHA:53697
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:618108
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decreased circulating total IgM,... OMIM:613500
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Pancreatitis, Abnormal blood gas level, Increased circulating interleuki... ORPHA:70578
Juvenile Hyaline Fibromatosis
Joint stiffness, Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis ORPHA:2028
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurrent mycobacteri... OMIM:615978
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... ORPHA:3152
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi... ORPHA:79106
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Decreased circulating IgE, Decreased circulating IgG level, Recurrent p... OMIM:300400
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Edema, Elevated circulating creatinine c... ORPHA:36234
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Osteosarcoma
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Pathologic fracture, Abno... ORPHA:668
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Hyaline Fibromatosis Syndrome
Osteopenia, Osteoporosis, Flexion contracture, Progressive flexion contractures, Osteolysis OMIM:228600
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Chronic decreased circulating total IgG, Reduced isohemagglutinin level, ... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati... OMIM:613502
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep... OMIM:607115
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio... OMIM:114000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating hepatic transaminase concentration, Skin rash, Hypoxemia, Elevated circulati... ORPHA:542323
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level OMIM:619773
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Cyclic Neutropenia
Perianal abscess, Sepsis, Recurrent tonsillitis, Periodontitis, Decreased eosinophil count, Lymph... ORPHA:2686
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ... ORPHA:73
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Mu-Heavy Chain Disease
Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis ORPHA:100024
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Hypo... ORPHA:70587
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity OMIM:608898
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Failure to thrive secondary to recurrent infections, Gastro... OMIM:608971
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:253600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio... OMIM:613501
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent bacterial infections, Re... OMIM:613779
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Recurrent infection of the gastrointestinal tract, Recurr... OMIM:608184
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaph... ORPHA:50809
Fusariosis
Onychomycosis, Sinusitis, Granuloma, Unusual CNS infection, Lymphopenia, Neutropenia, Hypersensit... ORPHA:228119
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni... OMIM:612692
Myeloma, Multiple
Paraproteinemia OMIM:254500
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Unsteady gait OMIM:618092
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
B-cell lymphoma, Severe varicella zoster infection, Hodgkin lymphoma, Recurrent sinusitis, Chroni... OMIM:300853
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Ollier Disease
Abnormal metaphysis morphology, Anemia, Micromelia, Joint stiffness, Osteolysis ORPHA:296
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Splenomegaly... ORPHA:2204
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Neutropenia in presence of ... OMIM:603909
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Immunodeficiency 7
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, E... ORPHA:486
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h... OMIM:618849
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Carpal osteolysis, Slender long bone, Limitation of joint mobility, Campto... ORPHA:2774
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Splenomegaly, Decreased proporti... OMIM:615513
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Decreased proportion of class-switched memory B cells, Diar... OMIM:607594
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, Squamous cell carcinoma, Squamous cell carcin... ORPHA:217390
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Recurr... ORPHA:275
Shigellosis
Cholestasis, Abnormal blood ion concentration, Paralytic ileus, Myocarditis, Splenic abscess, Nau... ORPHA:810
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections OMIM:609536
Preeclampsia
Pulmonary edema, Elevated circulating creatinine concentration, Elevated circulating hepatic tran... ORPHA:275555
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Ovarian Fibroma
Basal cell carcinoma, Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Pleur... ORPHA:314473
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Neutrop... OMIM:619644
Necrotizing Enterocolitis
Neonatal sepsis, Neutropenia, Bradycardia, Diarrhea, Bloody diarrhea, Ascites, Hypotension, Leuko... ORPHA:391673
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex... OMIM:607634
Cranio-Osteoarthropathy
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati... ORPHA:1525
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Pleuritis, Diarrhea, Crohn's... OMIM:249100
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Bone cyst, Abnormal bo... ORPHA:93160
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t... ORPHA:169160
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Diarrhea, Pleural effusion, Hypotension, Leukocytosis... ORPHA:188
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Decreased circulating antibod... OMIM:613101
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Osteolysis ORPHA:494
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Chronic diarrhea, Complete or near-complete absence of specific antibody... OMIM:607271
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Decreased circulating antibody level, Recurrent fungal infections, Re... OMIM:616873
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent ur... OMIM:209920
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Tarsal synostosis, Abnormal diaphysis morphology, Osteoarthritis,... ORPHA:1657
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Immunodeficiency 81
Recurrent infections, Reduced antigen-specific T cell proliferation, Impaired collagen-induced pl... OMIM:619374
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... OMIM:602450
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Cirrhotic Cardiomyopathy
Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Elevated pulmonary artery pressure... ORPHA:57777
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Pneumonia, Lissenc... ORPHA:1083
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Microsporidiosis
Intermittent diarrhea, Bronchitis, Chronic diarrhea, Sinusitis, Biliary tract abnormality, Myocar... ORPHA:2552
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgG level, Decreased c... OMIM:617765
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Metaphyseal widening, Metaphy... OMIM:265900
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Pneumonia, Chronic diarrhea, Increased circulating IgE level, A... OMIM:617638
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Congestive heart failure, Myocardial... ORPHA:330001
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis OMIM:619986
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, He... ORPHA:397596
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones... OMIM:602080
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Increased circulating IgA level, Reduced ... OMIM:300291
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Omenn Syndrome
Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia ORPHA:39041
Ataxia-Pancytopenia Syndrome
Anemia, Distal sensory impairment, Pancytopenia, Impaired vibration sensation in the lower limbs,... OMIM:159550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:619707
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Osteoporosis OMIM:620532
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Minimal change glomerulonephritis... ORPHA:567548
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Syncope, Hypertr... ORPHA:75249
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Skin rash, Pericarditis, Splenomegaly, Vasculitis, Conjunctivitis, Uveiti... ORPHA:32960
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Recurrent aphthous stomatitis,... ORPHA:343
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... ORPHA:158057
Caffey Disease
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... ORPHA:1310
Ovarian Fibrothecoma
Fibrosarcoma, Ovarian fibroma, Hirsutism, Pleural effusion, Ascites, Abnormality of the ovary, Pe... ORPHA:314478
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Paresthesia ORPHA:3165
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Immunodeficiency 110 With Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Persistent E... OMIM:614868
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Listeriosis
Pericarditis, Pustule, Unusual CNS infection, Cholecystitis, Granulomatosis, Myocarditis, Jaundic... ORPHA:533
Immunodeficiency 115 With Autoinflammation
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Ele... OMIM:620632
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... OMIM:618459
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Elevated ... ORPHA:131
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Craniosynostosis OMIM:618523
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Anemia, Hyperostosis, Arthritis, Abnormal sacroiliac joint morpho... ORPHA:324964
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor ORPHA:99965
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
High Altitude Pulmonary Edema
Pulmonary edema, Leukocytosis, Hypoxemia, Tachycardia, Cyanosis ORPHA:330012
Coccidioidomycosis
Skin rash, Cerebral ischemia, Granuloma, Pericarditis, Unusual CNS infection, Erythema nodosum, O... ORPHA:228123
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Ramon Syndrome
Osteolysis ORPHA:3019
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Respiratory tract infection, Peritonitis, Periorbital edema, E... ORPHA:656
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger... ORPHA:2635
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Frank-Ter Haar Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Joint stiffness, Camptodactyly of... ORPHA:137834
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co... OMIM:619638
Immunodeficiency 64 With Lymphoproliferation
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgA level,... OMIM:618534
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Peritonitis, Pleuritis OMIM:134610
Nocardiosis
Pericarditis, Unusual CNS infection, Thyroiditis, Endocarditis, Conjunctivitis, Pneumonia, Scleri... ORPHA:31204
Leukocyte Adhesion Deficiency
Perianal abscess, Nail dystrophy, Severe periodontitis, Impaired platelet aggregation, Sinusitis,... ORPHA:2968
Familial Mediterranean Fever
Intestinal obstruction, Skin rash, Ascites, Pericarditis, Acute hepatic failure, Splenomegaly, Va... ORPHA:342
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glutathione Synthetase Deficiency
Intention tremor, Ataxia, Hemolytic anemia, Neutropenia OMIM:266130
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Decreased circulatin... OMIM:308240
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy, Delayed proximal femoral epiphyseal ossification ORPHA:353298
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Cryptococcosis
Sepsis, Prostatitis, Cirrhosis, Osteolysis, Lymphoid leukemia, Pleural effusion, Vomiting, Cerebr... ORPHA:1546
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormal shoulder morphology, Limitation of joint mobility, Joint stiffne... ORPHA:66627
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Diarrhea, Arthritis, Skin ra... ORPHA:727
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Chronic m... ORPHA:98813
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Malignant Peritoneal Mesothelioma
Ascites, Peritonitis, Neoplasm, Ileus, Pedal edema ORPHA:168811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, Diarrhea, B lymphocytopenia, Decreased circul... OMIM:614069
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Infantile Myofibromatosis
Abnormal metaphysis morphology, Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2902
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... OMIM:603552
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... OMIM:620430
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Persistent EBV viremia, Compl... OMIM:620282
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Hypertension, Epistaxis, El... ORPHA:340
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Acute Lung Injury
Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Sepsis, ... ORPHA:178320
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Chronic diarrhea, Recurrent vulvov... ORPHA:331235
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells OMIM:619126
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... OMIM:144750
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating interleuk... OMIM:618944
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Roifman Syndrome
Eosinophilia, Splenomegaly, Lymphadenopathy OMIM:616651
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukemia, Leukocytosis, Osteoporo... ORPHA:98850
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio... OMIM:615559
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Intraalveolar... OMIM:620565
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, Sinusitis, Opportunistic infect... ORPHA:83471
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... ORPHA:371428
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hypokalemia, Acute colitis, Diarrhea, Hypertension, Dehydration, Bloody diarrhea, L... ORPHA:90038
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Decreased circulating prealbumin concentration, Recurrent as... ORPHA:930
Transcobalamin Deficiency
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... ORPHA:859
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis OMIM:619693
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Pedal e... ORPHA:199241
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Recurrent candida infections, Recurrent Staphylococcus aureus infections, Scl... ORPHA:572
Immunodeficiency 92
Recurrent oral herpes, Hepatomegaly, Cholangitis, Sclerosing cholangitis, Persistent CMV viremia,... OMIM:619652
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis ORPHA:391
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Congestive heart failure, Hepatomegaly, Left bundle branch block, Reduced left v... OMIM:115197
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... OMIM:615952
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Hepatomegaly, Decreased circulating antibody level, Hirsutism, L... ORPHA:79330
Primary Peritoneal Carcinoma
Constipation, Peritonitis, Neoplasm ORPHA:168829
Grant Syndrome
Abnormal cortical bone morphology, Decreased skull ossification, Bowing of the long bones, Abnorm... ORPHA:2097
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Rheumatoid arthritis, Thromb... ORPHA:100026
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Absence Of The Pulmonary Artery
Pulmonary edema, Congestive heart failure, Atrial flutter, Pedal edema, Reduced left ventricular ... ORPHA:980
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal long bone morphology, Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased... ORPHA:52430
Liver Disease, Severe Congenital
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoprote... OMIM:619991
Acute Peripheral Arterial Occlusion
Leukocytosis, Impaired distal tactile sensation, Paresthesia ORPHA:90064
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Athetosis, Thrombocytopenia, Leukopenia, Ataxia, Neutropenia OMIM:229050
Neonatal Alloimmune Neutropenia
Sepsis, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Meningitis, Se... ORPHA:464370
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutro... OMIM:615816
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Neutrophilia, Splenomegaly, Osteolysis, Absces... OMIM:612852
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Hepatic fibrosis, H... OMIM:231100
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Elevated circulating hepatic transaminase concentration, Panhypogamm... ORPHA:79124
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle... OMIM:619632
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Anemia, Inflammatory abnormality of the eye, Diarrhea, Arthritis, Skin rash, A... ORPHA:229717
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:600081
Fibrous Dysplasia Of Bone
Rickets, Abnormal femur morphology, Abnormal tibia morphology, Pathologic fracture, Abnormal bone... ORPHA:249
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Polymicrogyria, Aspiration pneumonia, Pachygyria OMIM:609528
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Chronic ... OMIM:618282
Hemochromatosis, Type 3
Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I... OMIM:604250
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Elevated circulating C-reactive pro... OMIM:617388
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Decreased res... OMIM:307200
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Tac... ORPHA:3392
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Immunodeficiency 40
Chronic oral candidiasis, Intermittent diarrhea, Recurrent otitis media, Macrovesicular hepatic s... OMIM:616433
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Lymphatic Malformation 7
Pulmonary edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal tra... OMIM:617300
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur... OMIM:614700
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Capillary leak, Hemorrhagic ovarian cyst, Hirsutism, Pleural effusion, Ascites, ... ORPHA:64739
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Panhypogammaglobulinemia, Decreased cir... OMIM:601495
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Sepsis, Elevated circulating C-reactive protein concentrati... ORPHA:36238
Peritoneal Cystic Mesothelioma
Constipation, Peritonitis, Neoplasm ORPHA:168816
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Hellp Syndrome
Pulmonary edema, Elevated circulating hepatic transaminase concentration, Decreased mean corpuscu... ORPHA:244242
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:300554
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Pachydermoperiostosis
Abnormal cortical bone morphology, Anemia, Arthritis, Limitation of joint mobility, Osteoporosis,... ORPHA:2796
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Pneumocystosis