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

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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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia OMIM:614162
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Generalized osteoporosis, Autoimmune hemolytic anemia, Hepatitis, Oropharyngeal squamous cell car... ORPHA:391487
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent meningococcal diseas... 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 40
Lymphopenia OMIM:616433
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... 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
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 53
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections OMIM:617585
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Leukocytosis, Delayed femoral head ossification, Enlarged tonsils, Multicentric fe... ORPHA:168621
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Acne Inversa, Familial, 3
Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... ORPHA:1802
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Immunodeficiency 20
Recurrent oral herpes, Recurrent otitis media, BCGitis, Reduced natural killer cell activity, Rec... OMIM:615707
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Bowing of the long bones, Pathologic fracture OMIM:174810
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Foll... OMIM:614470
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 19
Lymphopenia OMIM:615617
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Foot acroosteo... ORPHA:970
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... OMIM:300310
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 88
Eosinophilia OMIM:619630
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... OMIM:611497
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Impaired pain sensation ORPHA:2582
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Hyaline Fibromatosis Syndrome
Osteolysis, Osteopenia, Osteoporosis, Progressive flexion contractures OMIM:228600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Flattened metatarsal heads, Sclerosis of foot bone, Thi... ORPHA:564003
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, B lymphocytopenia, Perianal abscess, Reduced natural killer cell count OMIM:618108
Caffey Disease
Cortical irregularity, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Juvenile Hyaline Fibromatosis
Abnormal diaphysis morphology, Osteolysis, Progressive flexion contractures, Joint stiffness ORPHA:2028
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurr... OMIM:615978
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Bacterial Toxic-Shock Syndrome
Nausea, Elevated circulating creatinine concentration, Severe infection, Increased circulating my... ORPHA:36234
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Panhypogammaglobulinemia, Eczematoid dermatitis, Recurrent... OMIM:269840
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Infant Acute Respiratory Distress Syndrome
Cyanosis, Cardiac arrest, Pneumonia, Hypoxemia, Tachypnea, Hypotension, Respiratory tract infecti... ORPHA:70587
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Osteosarcoma
Abnormality of the metaphysis, Osteolysis, Abnormality of the femoral metaphysis, Pathologic frac... ORPHA:668
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent mycobact... ORPHA:319552
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Car T Cell Therapy-Associated Cytokine Release Syndrome
Nausea, Hypoxemia, Elevated circulating creatinine concentration, Tachypnea, Hyperbilirubinemia, ... ORPHA:542323
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:300400
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Cholangitis, Recurrent bacterial inf... OMIM:242850
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Cinca Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentra... OMIM:607115
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Generalized osteosclerosi... ORPHA:2790
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Dermatoosteolysis, Kirghizian Type
Split hand, Flexion contracture, Osteolysis, Joint contracture of the hand OMIM:221810
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synov... OMIM:609655
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:612692
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hypertriglyceridemia OMIM:608898
Mu-Heavy Chain Disease
Osteoporosis, Splenomegaly, Abnormal B cell count, Anemia, Osteolysis ORPHA:100024
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Severe infection, Decreased eosinophil count, Peritonitis, ... ORPHA:2686
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormal bone ossification, A... ORPHA:73
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia, Difficulty walking OMIM:253600
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent bacterial infections, Impaired Ig class s... OMIM:608184
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Recurrent opportunistic infections, Ecz... OMIM:608971
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia,... OMIM:603554
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis OMIM:300455
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synov... ORPHA:50809
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Fusariosis
Maculopapular exanthema, Invasive fungal infection, Productive cough, Fasciitis, Keratitis, Lymph... ORPHA:228119
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Myeloma, Multiple
Paraproteinemia OMIM:254500
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent bacterial infections OMIM:613779
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Congestive hear... ORPHA:139507
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Squamous cell carcinoma, Recurrent viral infections, Asthma, Onycho... ORPHA:217390
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Lymphoma, Decreased proportion of CD4-positive helper T cells, Hodgkin ly... OMIM:300853
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level,... OMIM:300636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Meningitis, ... OMIM:601457
Ollier Disease
Joint stiffness, Micromelia, Anemia, Abnormality of the metaphysis, Osteolysis ORPHA:296
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent viral infections, Recurrent mycobacterial infections, ... ORPHA:275
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... OMIM:607634
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:607594
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Increased bone mineral density, Splenomegaly, Limb undergrow... ORPHA:2204
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, ... OMIM:618849
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Systemic Capillary Leak Syndrome
Leukocytosis, Multiple myeloma, Arrhythmia, Myocarditis, Hypotension, Pleural effusion, Pancreati... ORPHA:188
Halothane Hepatitis
Eosinophilia OMIM:234350
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormality of epiphysis morphology, Carpal osteolysis, Metacarpal osteolysis, Osteolysis, Slende... ORPHA:2774
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Necrotizing Enterocolitis
Bloody diarrhea, Leukocytosis, Hyponatremia, Peritonitis, Hypotension, Thrombocytopenia, Neutrope... ORPHA:391673
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leukemia, Neutropenia, Aplastic an... ORPHA:486
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Splenomegaly, Increased... OMIM:615513
Shigellosis
Nausea, Hepatic failure, Uveitis, Cholestasis, Bloody mucoid diarrhea, Ulcerative colitis, Thromb... ORPHA:810
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Recurrent pneumonia, Recurrent infections, Decreased circulating IgG... ORPHA:169160
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Mesenteric cyst, Abnormality of the ovary, Peritonitis, Pleur... ORPHA:314473
Cranio-Osteoarthropathy
Joint stiffness, Deviation of finger, Arthritis, Osteoarthritis, Abnormality of tibia morphology,... ORPHA:1525
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Neutrophilia, Elevated circulating C-reactive ... OMIM:619644
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Abnormal bone structure, Osteomala... ORPHA:93160
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Hep... OMIM:249100
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Abnormal natural killer cell physiology, Decreased ... OMIM:613101
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Wild Type Attr Amyloidosis
Intermittent diarrhea, Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyo... ORPHA:330001
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Cholan... OMIM:209920
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Osteolysis ORPHA:494
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Dermatoosteolysis, Kirghizian Type
Brachydactyly, Osteoarthritis, Abnormality of the metaphysis, Osteolysis, Tarsal synostosis, Abno... ORPHA:1657
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Lymphoma, Abnormal... ORPHA:276
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Unsteady gait OMIM:618092
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Recurrent infections, Impaired neutrophil chemotax... OMIM:619374
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Hepatomegaly, ... ORPHA:75249
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia, Autoimmune hemolyti... ORPHA:911
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Tenosynovial Giant Cell Tumor
Joint stiffness, Abnormal hip joint morphology, Localized osteoporosis, Osteolysis, Limitation of... ORPHA:66627
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619707
Microsporidiosis
Nausea, Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis,... ORPHA:2552
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... ORPHA:75508
Wells Syndrome
Eosinophilia ORPHA:901
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Microlissencephaly
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... ORPHA:1083
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Uveitis, Constipation, Fasciitis, Diarrhea, Conjunctivitis, Skin rash, Vasculitis, Pe... ORPHA:32960
Listeriosis
Nausea, Arteritis, Liver abscess, Conjunctivitis, Diarrhea, Pyelonephritis, Unusual skin infectio... ORPHA:533
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Ataxia-Pancytopenia Syndrome
Pancytopenia, Dysmetria, Hypoplastic anemia, Ataxia, Impaired vibration sensation in the lower li... OMIM:159550
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Pulmonary embolism, Abnormal circulating lipid concentration, ... ORPHA:567548
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Increased circulating IgA level, Peritonitis, Hepatomegaly, Recurren... ORPHA:343
Nocardiosis
Severe infection, Scleritis, Productive cough, Liver abscess, Keratitis, Conjunctivitis, Emphysem... ORPHA:31204
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:39041
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Craniosynostosis, Osteopenia, Cutaneous abscess OMIM:147060
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Severe Epstein Barr virus infection, Reduced natural killer cell... OMIM:308240
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Ovarian Fibrothecoma
Abnormality of the ovary, Peritonitis, Pleural effusion, Diffuse leiomyomatosis, Ascites, Ovarian... ORPHA:314478
Eosinophilic Fasciitis
Paresthesia, Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Fractures of the long bones, Abnormality of pelvic girdle bone morpholo... OMIM:602080
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Immunodeficiency 52
Recurrent infections, Recurrent pneumonia, Persistent CMV viremia, Coombs-positive hemolytic anem... OMIM:617514
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Cholecystitis, Peritonitis, Splenomegaly, Hepat... ORPHA:131
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Edema, Pulm... OMIM:267450
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormality of epiphysis morphology, Craniofacial osteosclerosis, Anemia, Abnormal sacroiliac joi... ORPHA:324964
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Cirrhotic Cardiomyopathy
Abnormal A-type atrial natriuretic peptide level, Third heart sound, Ascites, Global systolic dys... ORPHA:57777
Coccidioidomycosis
Invasive fungal infection, Pancreatitis, Coccidioidal meningitis, Exudative pleural effusion, Ski... ORPHA:228123
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... ORPHA:331206
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia of the thymus... OMIM:612541
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Invasive fungal infection, Hematemesis, Hepatitis, Pancreati... ORPHA:73263
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor ORPHA:99965
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Clinodactyly of the 5th finger, Micromelia, Ab... ORPHA:2635
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Cryptococcosis
Cerebral edema, Pneumonia, Peritonitis, Prostatitis, Pleural effusion, Meningitis, Cough, Dyspnea... ORPHA:1546
Intrinsic Factor Deficiency
Somatic sensory dysfunction, Megaloblastic anemia, Paresthesia, Increased mean corpuscular volume... OMIM:261000
Ramon Syndrome
Osteolysis ORPHA:3019
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Respiratory tract infection, Periorbital edema, Edema, Hypoalbuminemia, Minimal chan... ORPHA:656
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Neoplasm, Dyspnea, Pedal edema, Ascites ORPHA:168811
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Calvarial hyperostosis, Perios... ORPHA:1310
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of the distal phalange... OMIM:259610
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Recurre... OMIM:618495
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary ve... ORPHA:199241
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Craniosynostosis OMIM:618523
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Nausea, Acute tubulointerstitial nephritis, Elevated circulating crea... ORPHA:340
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Familial Mediterranean Fever
Erysipelas, Arrhythmia, Orchitis, Ascites, Peritonitis, Constipation, Myocardial infarction, Panc... ORPHA:342
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia, Ataxia, Intention tremor OMIM:266130
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... OMIM:166600
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Short 4th metacarpal, Rhizomelia, Thin bony cortex, Broad thumb, Femoral bo... OMIM:619638
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Frank-Ter Haar Syndrome
Brachydactyly, Joint stiffness, Clinodactyly of the 5th finger, Osteolysis, Camptodactyly of fing... ORPHA:137834
Immunoglobulin A Deficiency 1
Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infections, Recurren... OMIM:137100
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy, Delayed proximal femoral epiphyseal ossification ORPHA:353298
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Immunodeficiency 32B
Sinusitis, Recurrent infections, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Pleuritis OMIM:134610
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absen... OMIM:600802
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... OMIM:603552
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Idiopathic Achalasia
Decreased prealbumin level, Gastroesophageal reflux, Cough, Dysphagia, Recurrent aspiration pneum... ORPHA:930
Microscopic Polyangiitis
Sinusitis, Uveitis, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Peritoniti... ORPHA:727
Pneumocystosis
Nonproductive cough, Increased circulating lactate dehydrogenase concentration, Respiratory failu... ORPHA:723
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Infantile Myofibromatosis
Limitation of joint mobility, Bone cyst, Osteolysis, Abnormality of the metaphysis ORPHA:2591
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Lymphatic Malformation 7
Facial edema, Nonimmune hydrops fetalis, Anemia, Lymphedema, Respiratory distress, Edema, Pericar... OMIM:617300
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Hashimoto thyroiditis, Rheumatoid... ORPHA:331235
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Absence Of The Pulmonary Artery
Cyanosis, Nonproductive cough, Recurrent pneumonia, Atrial flutter, Reduced ejection fraction, Pa... ORPHA:980
Mogs-Cdg
Apnea, Decreased circulating IgG level, Decreased circulating total IgM, Fair hair, Hepatosplenom... ORPHA:79330
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Staphylococcal Necrotizing Pneumonia
Pulmonary pneumatocele, Hypoxemia, Severe infection, Tachypnea, Acute infectious pneumonia, Leuko... ORPHA:36238
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangitis, Severe inf... ORPHA:183675
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Leukoc... OMIM:619652
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Recurrent viral in... ORPHA:572
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgG level OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent infections, Reduc... OMIM:615559
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Increased circulating lactate dehydrogenase concentration, Schistocytosis, Leukocytosis, Hypokale... ORPHA:90038
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:600081
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased circulating Ig... OMIM:607676
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Roifman Syndrome
Eosinophilia, Splenomegaly, Lymphadenopathy OMIM:616651
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly OMIM:619126
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaph... OMIM:166260
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis, Recurrent bacterial infections OMIM:619693
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating ino... OMIM:613179
Thymic Aplasia
Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Recurrent urinary t... ORPHA:83471
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2902
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
Scedosporiosis
Abnormal respiratory system physiology, Severe infection, Invasive fungal infection, Fungal menin... ORPHA:449280
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Ataxia, Unsteady ... ORPHA:2585
Primary Peritoneal Carcinoma
Constipation, Peritonitis, Neoplasm ORPHA:168829
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Osteopor... ORPHA:98850
Ethylene Glycol Poisoning
Cyanosis, Cerebral edema, Nausea, Congestive heart failure, Hyperkalemia, Hypocalcemia, Tachypnea... ORPHA:31826
Immunodeficiency 27A
Hepatosplenomegaly, Increased circulating IgG level, Pneumonia, Increased circulating IgM level, ... OMIM:209950
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... OMIM:307200
Acute Peripheral Arterial Occlusion
Impaired distal tactile sensation, Leukocytosis, Paresthesia ORPHA:90064
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Grant Syndrome
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... ORPHA:2097
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Hypovolemia, Nausea, Peripheral edema, Pleural effusion, Capillary leak... ORPHA:64739
Aspergillosis
Hepatitis, Keratitis, Intracranial hemorrhage, Hypersensitivity pneumonitis, Invasive pulmonary a... ORPHA:1163
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Tularemia
Pneumonia, Erythema nodosum, Leukocytosis, Inflammatory abnormality of the eye, Cutaneous abscess... ORPHA:3392
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of long bone morphology, Increased susceptibility to fractures, Osteolysis, Calvarial... ORPHA:52430
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis OMIM:176670
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteoporosis, Incre... ORPHA:371428
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Isolated Agammaglobulinemia
Sinusitis, Abnormal lymphocyte morphology, Pneumonia, Inflammatory abnormality of the eye, Thromb... ORPHA:229717
Hemochromatosis, Neonatal
Hepatic failure, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Cirrhosis, He... OMIM:231100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent infections, Hypoproteinemia, Pneumonia, Thrombocytosis, Pulmonary embolism, Decreased c... OMIM:226300
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Calvarial hyperostosis, Fibu... OMIM:112350
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenom... ORPHA:100026
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Polymicrogyria, Pachygyria OMIM:609528
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Lymphoma, Chronic... OMIM:614700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Recurrent abscess formation, Anemia, Ascites, Thrombocytopenia, Diarrhea, Chronic m... ORPHA:79124
Fibrous Dysplasia Of Bone
Bowing of the long bones, Cortical irregularity, Abnormality of the ulna, Abnormal pelvis bone mo... ORPHA:249
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Neutropenia, Anemi... OMIM:604250
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia... OMIM:616576
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentra... OMIM:617388
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:601495
Cocaine Intoxication
Increased circulating lactate dehydrogenase concentration, Nausea, Tachypnea, Hypertension, Prolo... ORPHA:90068
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis ORPHA:391
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the metaphysis, Osteopetrosis ORPHA:1522
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia, Ataxia OMIM:616949
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Dyspnea, Upper airway obstruction, Respiratory distress, Aspiration pneumonia ORPHA:141152
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:300554
Hellp Syndrome
Increased circulating lactate dehydrogenase concentration, Nausea, Decreased mean corpuscular hem... ORPHA:244242
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Congenital Disorder Of Glycosylation, Type Iic
Widow's peak, Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Pneumonia,... OMIM:266265
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Immunodeficiency 23
Eosinophilia, Somatic sensory dysfunction, Ataxia, Abscess, Neutropenia, Hemolytic anemia, Lympho... OMIM:615816
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Peritoneal Cystic Mesothelioma
Constipation, Peritonitis, Neoplasm ORPHA:168816
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Recurrent infections, Respiratory failure requiring assisted ventilation, Pyelonephritis, Patent ... OMIM:619351
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Neutrophilia, Splenomegaly, Osteomyelitis, Osteolysis, Fused cervical ve... OMIM:612852
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Hepatosplenomegaly, Absent natural killer cells, Impaired lymphocyte transform... ORPHA:35078
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Hypoxemia, Tachypnea, Productive cough... ORPHA:454836
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Airway obstruction, Hypoxemia, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... ORPHA:93323
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Recurrent fractures, Slender long bone, Abnormal cortical bone morp... ORPHA:1486