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Gene: Stat1 MGI:103063

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lymphocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.56×10-10
increased monocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.69×10-07
increased neutrophil cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.01×10-12
decreased circulating alkaline phosphatase level Stat1tm2b(EUCOMM)Wtsi HOM Early adult 5.25×10-06
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
increased eosinophil cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 2.78×10-09
increased large unstained cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.54×10-07
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 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
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

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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

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X-ray

XRay Images Whole Body Lateral Orientation

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Gross Pathology and Tissue Collection

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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 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Generalized osteoporosis, Lymphopenia, Recurrent Aspergill... ORPHA:391487
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Osteopenia, Hepatomegaly, Impaired lymphoc... OMIM:614162

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
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ... ORPHA:723
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of... ORPHA:1486
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia, Neutropenia OMIM:616949
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Lymphadenopathy ORPHA:139402
Schnitzler Syndrome
Anemia, Lymphadenopathy, Increased bone mineral density, Leukocytosis, Splenomegaly ORPHA:37748
Aspergillosis
Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Pleuritis, Increased circulating ... ORPHA:1163
Scedosporiosis
Unusual skin infection, Sepsis, Pulmonary tuberculosis, Pleuritis, Opportunistic fungal infection... ORPHA:449280
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ... OMIM:301074
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Avian Influenza
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:454836
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Bidirectional shunt, Recurrent infections, Pulmonary hypoplas... OMIM:619351
Ethylene Glycol Poisoning
Hyperkalemia, Pulmonary edema, Renal tubular epithelial necrosis, Congestive heart failure, Gastr... ORPHA:31826
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent CMV viremia, Persistent EBV viremia, Chr... OMIM:616005
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:611762
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Diarrhea, Dehydration, ... ORPHA:33110
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233710
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenome... OMIM:612840
Felty Syndrome
Anemia, Arthritis, Abnormal lymphocyte morphology, Limitation of joint mobility, Synovitis, Throm... ORPHA:47612
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Pneumocystis jirovecii ... OMIM:615207
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Congestive heart failure, Bradycardia, ST segment elevation, Pleural effusion, A... OMIM:261740
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Pneumo... OMIM:620321
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Diaphyseal sclerosis, Pancytopenia, Rec... OMIM:259710
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating C-reactive protein co... ORPHA:54251
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Persistent CMV viremia, Diarrh... OMIM:618495
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci... OMIM:620481
Malignant Atrophic Papulosis
Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Pleural effusion, Telangiectasia of the ... ORPHA:679
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Osteopetrosis, Autosomal Recessive 9
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture OMIM:620366
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Beta-Thalassemia
Reduced bone mineral density, Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Splenome... ORPHA:848
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Elevated circulating hepatic transaminase concentration, Recurre... ORPHA:1572
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Immunodeficiency 10
Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Recurrent infections, Recurrent... OMIM:612783
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... OMIM:102700
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Urachal Cyst
Elevated circulating C-reactive protein concentration, Leukocytosis, Peritonitis, Neoplasm, Absce... ORPHA:488
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233690
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, ... OMIM:616100
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Impaired vibratory sensation, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom... OMIM:611490
Cocaine Intoxication
Prolonged QT interval, Hypertension, Increased circulating lactate dehydrogenase concentration, P... ORPHA:90068
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Chronic diarrhea, Abnormally low T cell re... OMIM:242700
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex OMIM:176920
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Aspiration pneumonia ORPHA:141152
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatosplenomegaly, Splenomegaly, Enlarged platelet dense granule... OMIM:608233
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Cystic Echinococcosis
Splenic cyst, Bone cyst, Hyperbilirubinemia, Peritoneal abscess, Eosinophilia, Abscess ORPHA:400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Delayed ossification of carpal bones, Lymphopenia OMIM:617425
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Melioidosis
Lung abscess, Unusual skin infection, Sepsis, Prostatitis, Shock, Liver abscess, Acute infectious... ORPHA:31202
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:241530
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Joint hypermobility, Recurren... OMIM:617952
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Episodic vomiting, Diarrhea, Cardiomyopathy, Constipation, Orthostatic hypotensi... OMIM:105210
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Lymphocytosis, Neutropenia in presence of anti-neut... ORPHA:3261
Lymphedema, Primary, With Myelodysplasia
Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Pancytopenia OMIM:614038
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis ORPHA:220393
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Systemic Lupus Erythematosus 17
Chorea, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Splenomegaly, Abnormal b... ORPHA:37042
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Limitation of joint mobility, Acroosteoly... ORPHA:90153
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Japanese Encephalitis
Pulmonary edema, Increased circulating antibody level, Diarrhea, Vomiting, Hyponatremia, Increase... ORPHA:79139
Scorpion Envenomation
Prominent U wave, Hypertension, Premature ventricular contraction, Increased circulating lactate ... ORPHA:466677
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Alveolar Echinococcosis
Liver abscess, Anemia, Bone cyst, Abnormal spleen morphology, Ataxia, Eosinophilia, Cutaneous abs... ORPHA:284
Gaucher Disease Type 1
Osteopenia, Anemia, Pancytopenia, Splenic infarction, Osteoporosis, Splenic rupture, Erlenmeyer f... ORPHA:77259
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the eye, Jau... ORPHA:39812
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Chronic diarrhea, T lymphocytopenia, Recurrent sinusitis, Bronchioliti... OMIM:300755
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Rigid Spine Syndrome
Pneumonia, Cardiac conduction abnormality ORPHA:97244
Whim Syndrome
Severe periodontitis, Abnormal neutrophil morphology, Cervix cancer, Sinusitis, Lymphopenia, Neut... ORPHA:51636
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Progressive clavicular acroosteolysis, Osteolytic defects of the distal p... OMIM:614008
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con... OMIM:617243
Tumor Predisposition Syndrome 2
Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa... OMIM:619975
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Bronchiectasis, Decreased proportion of CD4-positive T cells, Recurrent infections, Lymphoma ORPHA:477814
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Chorea, Hyperammonemia, Dystonia, Thrombocytopenia, Choreoathetosis, Neutropenia ORPHA:289916
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia OMIM:620443
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Abnormal circulating cytokine concentration, Increased circulating interleu... ORPHA:540
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Bloom Syndrome
Cheilitis, Bronchitis, Skin rash, Neoplasm of the skin, Malignant genitourinary tract tumor, Seve... ORPHA:125
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal femur morphology, Anemia, Fractures of the long bones, Abno... ORPHA:464329
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal ... OMIM:116920
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Mucolipidosis Type Iii Alpha/Beta
Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis ORPHA:423461
Subacute Inflammatory Demyelinating Polyneuropathy
Steppage gait, Difficulty walking, Distal sensory impairment, Positive Romberg sign, Tremor, Leuk... ORPHA:206594
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Increased skull ossification ORPHA:85179
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased... OMIM:618048
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Atelectasis, Bronchiectasis, Lissencephaly, Recurrent respiratory infections OMIM:619466
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Generalized bone demineralization, Macrocytic anemia, Hyperuricemia, Hyponatre... ORPHA:199299
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow hypocellula... OMIM:127550
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis OMIM:618042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Hyperammonemia, Dystonia, Thrombocytopenia, Splenomegaly, Choreoathetosis, Neutropenia ORPHA:79312
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Anemia of inadequate p... ORPHA:231222
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Ogden Syndrome
Premature ventricular contraction, Dysphagia, Fine hair, Oligohydramnios, Jaundice, Pulmonary art... OMIM:300855
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Eosinophilia, Craniosynostosis ORPHA:2314
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer ce... ORPHA:221139
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:264700
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative disorder, Leukocyt... ORPHA:3226
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Osteopor... ORPHA:2169
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:300009
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia, Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent upper respi... OMIM:619446
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Idiopathic Hypereosinophilic Syndrome
Somatic sensory dysfunction, Anemia, Generalized lymphadenopathy, Myeloproliferative disorder, Le... ORPHA:3260
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... OMIM:614878
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, Myelofibrosis,... OMIM:301078
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... ORPHA:198
Histiocytoid Cardiomyopathy
Pulmonary edema, Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Hepato... ORPHA:137675
Sapho Syndrome
Hyperostosis, Arthritis, Abnormal sacroiliac joint morphology, Synovitis, Enthesitis, Osteolysis,... ORPHA:793
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Rec... ORPHA:169090
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b... OMIM:277440
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Paresth... ORPHA:3318
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Tafro Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Myelofibrosis, Le... ORPHA:457077
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Hypoxemia, Pneumonia, Recurrent respirator... OMIM:610910
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Hypoxemia, Thrombocytopenia, Pneumonia, Pulmonary he... ORPHA:238459
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... OMIM:307800
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Abnormal circul... ORPHA:48435
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Leukopenia, Splenomegaly, Lymphopenia OMIM:620210
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Timothy Syndrome
Prolonged QT interval, Bradycardia, Recurrent infections, Bronchitis, Hypocalcemia, Pulmonary art... OMIM:601005
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Netherton Syndrome
Hypereosinophilia OMIM:256500
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase... OMIM:620603
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Flared metaphysis, Increased bon... OMIM:259700
Myopathy With Extrapyramidal Signs
Hypervalinemia, Difficulty walking, Chorea, Tremor, Leukocytosis, Hyperlysinemia, Elevated circul... OMIM:615673
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... OMIM:617021
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Bronchiolitis Obliterans
Pneumonia, Hypoxemia, Respiratory tract infection, Bronchiectasis, Bronchiolitis obliterans ORPHA:1303
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenital thr... OMIM:618886
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Crohn's disease, Skin rash, Bronchitis, B-cell lymphoma, T lymphocyt... OMIM:619381
Immunodeficiency 58
Chronic otitis media, Seborrheic dermatitis, Chronic diarrhea, Onychomycosis, Molluscum contagios... OMIM:618131
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... OMIM:127300
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Leishmaniasis
Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, ... ORPHA:507
Igg4-Related Pachymeningitis
Somatic sensory dysfunction, Eosinophilia, Lymphadenitis, Elevated circulating C-reactive protein... ORPHA:449427
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Necrotizing enterocolitis, Hepatocell... OMIM:201475
Angiostrongyliasis
Hypereosinophilia, Hyperesthesia, Paresthesia ORPHA:74
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Decreased specific anti-polysaccharide antibody level, Recurrent respir... OMIM:606367
Trichothiodystrophy 6, Nonphotosensitive
Broad-based gait, Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemogl... OMIM:616943
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Arachnodactyly, Liver abscess, Osteolysis ORPHA:678
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl... OMIM:112910
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia OMIM:250800
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Increased circulating lactate dehydrogenase conce... ORPHA:158061
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Carcinoid Syndrome
Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Small intestine carcin... ORPHA:100093
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular patte... ORPHA:2032
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Ataxia-Telangiectasia
Tremor, Gait disturbance, Ataxia, Lymphopenia, Aplasia/Hypoplasia of the thymus ORPHA:100
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Meier-Gorlin Syndrome 7
Meconium peritonitis, Heart block, Breast aplasia, Wide anterior fontanel, Pulmonary hypoplasia, ... OMIM:617063
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Lymphade... OMIM:267700
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Mixed Connective Tissue Disease
Arthritis, Joint stiffness, Leukopenia, Splenomegaly, Hemolytic anemia, Osteolysis ORPHA:809
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Methemoglobinemia ORPHA:621
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Hepatosplenom... OMIM:618935
Primary Myelofibrosis
Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis... ORPHA:824
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Polyhydramnios, Gastroesophageal reflux, Osteoporosis, Recurrent aspiratio... OMIM:619971
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Inability to walk, Craniosynostosis, T lymphocytope... ORPHA:508533
Griscelli Syndrome Type 2
Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra... ORPHA:3035
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Gastroesophageal reflux, Chronic rhinitis, Recurrent pneumonia, Recurrent... OMIM:615482
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... OMIM:602111
Cinca Syndrome
Reduced bone mineral density, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein co... ORPHA:1451
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Osteoporosis, Neutropenia OMIM:612562
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C... OMIM:617099
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
H Syndrome
Camptodactyly, Hepatosplenomegaly, Microcytic anemia, Hallux valgus, Histiocytosis, Recurrent fra... ORPHA:168569
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Wolcott-Rallison Syndrome
Difficulty walking, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hy... ORPHA:1667
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Gait disturbance ORPHA:183
Erdheim-Chester Disease
Abnormal metaphysis morphology, Anemia, Increased bone mineral density, Osteolysis, Abnormal epip... ORPHA:35687
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Infection-Related Hemolytic Uremic Syndrome
Hypertension, Hypertensive crisis, Edema, Myocarditis, Increased circulating interleukin 6 concen... ORPHA:544482
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Yellow Nail Syndrome
Renal neoplasm, Yellow nails, Pleuritis, Lymphedema, Neoplasm of the lung, Pulmonary arterial hyp... ORPHA:662
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Patent ductus arteriosus ORPHA:2978
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Mirage Syndrome
Hyperkalemia, Sepsis, Anemia, Radial club hand, Gastroesophageal reflux, Recurrent urinary tract ... OMIM:617053
Acute Interstitial Pneumonia
Peripheral edema, Reduced hematocrit, Atelectasis, Elevated circulating creatinine concentration,... ORPHA:79126
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Congestive heart failure, Hypocalcemia, Pericardial effusion, Hypomagnesemia, Hy... ORPHA:73224
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis OMIM:608644
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:306400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Hip... ORPHA:464321
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin... ORPHA:2035
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Subperiosteal bone resorption, Delayed epiphyseal ossification, Femoral bowing, Tibial b... ORPHA:289157
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Gastroparesis, Recurrent tonsillitis, Bronchiec... OMIM:619223
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Acute infectious pneumonia, Elevated circulating carc... ORPHA:264675
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Dysphagia, Aspiration pneumonia ORPHA:90117
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Elevated circulating... ORPHA:829
Chime Syndrome
Acute leukemia, Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/... ORPHA:3474
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Genu valgum, Pancytopenia, Bilateral coxa valga, Cortical thick... ORPHA:309282
Cowden Syndrome 7
Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Papillary thyroid carcinoma, Heman... OMIM:616858
Specific Granule Deficiency 2
Sepsis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media OMIM:617475
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Aortic regurgitation, Pulmonary artery atresia, Hypoplas... ORPHA:3384
Sneddon Syndrome
Tremor, Impaired distal tactile sensation, Lymphopenia OMIM:182410
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Polyhydramnios ORPHA:596
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:120100
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Lymphadenopathy, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Acrocyanosis, Atrichia, Decreased testicular size, Congenital abnormal hair patte... ORPHA:1867
Anterior Cutaneous Nerve Entrapment Syndrome
Impaired tactile sensation, Hyperesthesia, Leukocytosis, Allodynia, Somatic sensory dysfunction ORPHA:51890
Good Syndrome
Anemia, Diarrhea, Recurrent urinary tract infections, Abnormal leukocyte morphology, Decreased ci... ORPHA:169105
Shwachman-Diamond Syndrome
Aplastic anemia, Osteopenia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia... ORPHA:811
Kniest Dysplasia
Rhizomelia, Tracheomalacia, Delayed epiphyseal ossification, Splayed epiphyses, Flared metaphysis... OMIM:156550
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Brucellosis
Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Inc... ORPHA:1304
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615505
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... OMIM:259730
Muckle-Wells Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:191900
Osteogenesis Imperfecta, Type Viii
Osteopenia, Slender long bone, Femoral retroversion, Wide anterior fontanel, Femoral bowing, Tibi... OMIM:610915
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal peritoneum morphology, Dysphagia, Abnormal pleura morpho... ORPHA:2357
Porphyria, Congenital Erythropoietic
Osteopenia, Thrombocytopenia, Splenomegaly, Pathologic fracture, Hemolytic anemia, Reduced erythr... OMIM:263700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis, Gastrointestinal hemorrhage, Normocytic anemia, Elevated circulating alkaline phosphatase... ORPHA:247691
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:620032
Anal Fistula
Leukocytosis ORPHA:228113
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Diarrhea, Arthritis,... ORPHA:420741
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Alpha-Mannosidosis, Adult Form
Osteopenia, Aortic regurgitation, Pancytopenia, Recurrent infections, Hepatosplenomegaly, Pneumon... ORPHA:309288
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Tibial bowing, Bowing of the long bones, Mic... OMIM:613848
Sweet Syndrome
Small vessel vasculitis, Pustule, Neoplasm, Abnormality of tumor necrosis factor secretion, Incre... ORPHA:3243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Generalized osteoporosis, Lymphopenia, Recurrent Aspergill... ORPHA:391487
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro... OMIM:613021
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Hajdu-Cheney Syndrome
Osteopenia, Partial absence of toe, Decreased skull ossification, Osteoporosis, Bowing of the lon... ORPHA:955
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ... OMIM:617718
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Recurrent sinusitis, Psoriasiform dermatitis, Decreased response to growth hormon... ORPHA:293978
Incontinentia Pigmenti
Spina bifida occulta, Finger syndactyly, Abnormal hand morphology, Absent hand, Deviation of fing... ORPHA:464
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Gaucher Disease Type 3
Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, Splenomegaly, Osteolysis,... ORPHA:77261
Bone Marrow Failure Syndrome 3
Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leukemia, Pancytopenia, Incr... OMIM:617052
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Progressive cerebellar ataxia, Elevated circulating C-reactive ... OMIM:610377
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ... OMIM:612649
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Elbow... ORPHA:3206
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Thrombocytopenia, Anemia, Lymphopenia OMIM:620365
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Limb ataxia, Truncal ataxia, Persistence of hemoglobin F, Broad-based gait OMIM:617101
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Vasculitis in the skin, Splenomegaly, Recurrent upper respiratory tract inf... OMIM:620296
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Clinodactyly of the 5th finger OMIM:617306
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis OMIM:618801
Osteogenesis Imperfecta, Type Iii
Slender long bone, Wide anterior fontanel, Tibial bowing, Decreased calvarial ossification, Multi... OMIM:259420
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Skin rash, Hypertension, Synovitis, Elevated circulating creatinine concentration, Ser... ORPHA:567544
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Lymphadenopathy, Tremor, Gait disturbance, Leukopenia, Splenomegaly, Im... OMIM:214500
Mitochondrial Complex I Deficiency, Nuclear Type 33
Aspiration pneumonia, Hyperammonemia, Dysphagia, Simplified gyral pattern, Sparse hair, Bronchiec... OMIM:618253
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Hepatosplenomegaly, Neutropenia OMIM:301081
Hyper-Igd Syndrome
Chronic oral candidiasis, Recurrent infections, Arthritis, Skin rash, Chronic diarrhea, Diarrhea,... OMIM:260920
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Prolonged QT interval, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:26793
Ciliary Dyskinesia, Primary, 24
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis OMIM:615481
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Atelis Syndrome 1
Anemia, Recurrent infections, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Bronchiectasis... OMIM:620184
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, ... ORPHA:90362
Aicardi-Goutieres Syndrome 7
Hematemesis, Increased circulating antibody level, Skin rash, Hypertension, Chilblains, Hematoche... OMIM:615846
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615500
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis ORPHA:2768
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... ORPHA:99103
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Hepatomegaly, Hypotension, Tricuspid regurgitation, P... ORPHA:97287
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Recurrent viral infections, Recurrent gastroenteritis, Bronchiectasis OMIM:618648
Meconium Aspiration Syndrome
Pneumothorax, Pulmonary insufficiency, Atelectasis, Aspiration pneumonia, Pulmonary arterial hype... ORPHA:70588
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
Kikuchi-Fujimoto Disease
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Abnormal lymph no... ORPHA:50918
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Prolonged QTc interval... ORPHA:231111
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Hypoplasia of the t... OMIM:208900
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... OMIM:618213
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:614679
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Bone cyst, Narrow iliac wing, Hip contracture, Flexion contracture, Osteolysis ORPHA:3042
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, Spina bifida occulta, Increased bone mineral densi... ORPHA:2780
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Dysphagia, Abnormal circulating enzyme concentration or activity ORPHA:2590
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:26791
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Emphysema, Panniculitis, Hepatomegaly, Bronchitis, Hepatocellular carcinoma,... ORPHA:60
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone ... OMIM:166210
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Pulmonary insufficiency, Chronic rhinitis, Bronchiectasis, Chronic sinusitis OMIM:614017
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Cyanosis, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Synco... ORPHA:99104
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Reticulocytop... OMIM:275350
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:616481
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Ciliary Dyskinesia, Primary, 14
Polysplenia, Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent respiratory infections,... OMIM:613807
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Vomiting, Secretory diarrhea, Respiratory tract infection, Bronchiectasis OMIM:619445
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Short phalanx of finger,... OMIM:608612
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk... OMIM:615934
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:608647
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis media, Bronchiectasis OMIM:613193
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chronic... OMIM:612650
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Pathologic fracture, Tibial bowing, Abnorm... ORPHA:352540
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Hypoplastic ... OMIM:605274
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambi... OMIM:617092
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Thin bony cortex, Limb undergrowth, Splenomegaly, Coxa v... OMIM:230600
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Thrombocytopenia, Leukocytosis ORPHA:83601
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Pneumothorax, Diarrhea, Pleural effusion, Pericardia... ORPHA:411703
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Pulmonary edema, Highly arched eyebrow, Microvesicular hepatic steatosis, Hypertension, Hirsutism... OMIM:220111
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Hypoxemia, Neoplasm ORPHA:140896
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Recurrent bacterial infections OMIM:603585
Gaucher Disease
Osteopenia, Anemia, Pancytopenia, Increased bone mineral density, Abnormal bone structure, Spleni... ORPHA:355
Sarcoidosis
Anemia, Lymphadenopathy, Abnormal lymph node morphology, Bone cyst, Increased T cell count, Leuko... ORPHA:797
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated circulating hepatic transami... ORPHA:71212
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Elbow flexio... OMIM:248370
Igg4-Related Submandibular Gland Disease
Eosinophilia, Lymphadenopathy ORPHA:449432
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Bradycardia, Hypertension, Hypertensive ... ORPHA:94093
Hypocomplementemic Urticarial Vasculitis
Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleritis, Conjunctivitis, Meningit... ORPHA:36412
Encephalocraniocutaneous Lipomatosis
Bone cyst, Craniofacial hyperostosis, Osteolysis ORPHA:2396
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Bronchiectasis, Asplen... OMIM:244400
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis ORPHA:90060
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Recurrent respiratory infections, Elevated circulating creatinine concentration OMIM:619468
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Hypoxemia, Respiratory tract infection, ... ORPHA:79127
Thrombocytopenia-Absent Radius Syndrome
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis OMIM:611884
Igg4-Related Kidney Disease
Decreased liver function, Sclerosing cholangitis, Pericarditis, Lymphocytoma cutis, Increased cir... ORPHA:449395
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Monoclonal elevation of circulating IgA, Reduced circulating complem... ORPHA:91139
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Pancytopenia,... ORPHA:1855
Sickle Cell Disease
Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Increased red cell sickling tendenc... OMIM:603903
Cleft Velum
Oral-pharyngeal dysphagia, Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:613808
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Hyperostosis, Abnormal eosinophil morphology, Hypoplasia of the thymus, A... ORPHA:906
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Hepatoerythropoietic Porphyria
Osteopenia, Osteoporosis, Hemolytic anemia, Splenomegaly, Erythroid hyperplasia, Osteolysis ORPHA:95159
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia, Lymphopenia OMIM:617575
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:614935
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Majeed Syndrome
Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Splenomegaly, Congen... ORPHA:77297
Chikungunya
Periostitis, Arthritis, Synovitis, Joint stiffness, Enthesitis, Stiff interphalangeal joints, Ost... ORPHA:324625
Lenz-Majewski Hyperostotic Dwarfism
Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph... ORPHA:2658
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Recurrent infections, Microvesicular hepatic steatosis, Hepatocellular necrosis, De... OMIM:618278
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ... OMIM:620233
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Metaphyseal widening, Erlenmeyer flask deformity of the femu... OMIM:618476
Congenital Erythropoietic Porphyria
Osteopenia, Osteoporosis, Reticulocytosis, Poikilocytosis, Hemolytic anemia, Anisocytosis, Leukop... ORPHA:79277
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Multiple pulmonary cysts, Eczematoid dermatitis, Rheumatoid arthritis, H... ORPHA:79128
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... ORPHA:2502
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre... OMIM:618699
Congenital Syphilis
Myocarditis, Periostitis, Hydrops fetalis, Pancreatitis, Anemia, Diarrhea, Synovitis, Prolonged n... ORPHA:499009
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Osteopenia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Bone marrow h... OMIM:613990
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior rib ends, Persis... OMIM:260400
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... ORPHA:231214
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hip subluxation, Anemia, Hypochromic microcytic anemia, Flar... OMIM:259720
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hamartoma OMIM:300484
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge... ORPHA:2769
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Sepsis, Recurrent aspiration pneumonia ORPHA:204
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Sparse bone trabeculae, Metaphyseal... ORPHA:1652
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Recurrent respiratory infections, T lymphocytopenia, Rheumatoid arthritis... OMIM:607944
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Osteopenia, Hepatomegaly, Impaired lymphoc... OMIM:614162
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Igg4-Related Ophthalmic Disease
Eosinophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration ORPHA:449563
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Clinodactyly of the 5th finger, Osteolysis ORPHA:1052
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Legionnaires Disease
Lymphadenopathy, Hyponatremia, Bone marrow hypocellularity, Ataxia, Splenomegaly, Lymphopenia ORPHA:549
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:615577
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis OMIM:616084
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Clinodac... ORPHA:2710
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia, Cerebral edema OMIM:608033
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Lymphadenopathy, Hypoproteinemia, Leukocytosis, Elevated circulating creatine kinase conc... OMIM:615895
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Broad eyebrow, Chronic diarrhea, Recurrent pne... OMIM:301220
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Abnormality of exocrine pancreas physiology, Chronic bronchitis OMIM:211400
Acute Radiation Syndrome
Diarrhea, Hypotension, Vomiting, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphope... ORPHA:454831
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis, Chro... OMIM:616037
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Osteopenia, Anemia, Pancytopenia, Waddling gait, Thrombocytopenia, Ly... OMIM:242900
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615444
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Dysphagia, Aspiration pneumonia, Abnormal circulating enzyme concentration or activity ORPHA:79264
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:66628
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, Rhabdomyosarcoma, Diar... OMIM:251260
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Lead Poisoning
Abnormal T cell morphology, Cranial hyperostosis, Decreased HDL cholesterol concentration, Anemia... ORPHA:330015
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat... ORPHA:329918
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Genu valgum, Iron deficiency anemia, Co... ORPHA:93315
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Biliary cirrhosis, Hodg... ORPHA:2298
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin... ORPHA:244
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp... ORPHA:93322
Immunodeficiency 22
Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia, Abscess OMIM:615758
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pancytopenia, Leu... OMIM:615688
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Recurrent infections, Polymicrogyria, Increased serum pyruvate, Recurren... ORPHA:79243
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Jaundice, Neonatal sepsis, Adrenal hyperplasia, Vomiting, Hyponatremia, Breast carc... ORPHA:90790
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Anemia, Leukocytosis, Hypoalbuminemia ORPHA:67
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:179494
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Lymphopenia, Long fibula ORPHA:935
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Gastroesophageal reflux, Hirsutism, Cardiomyopathy, As... ORPHA:354
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Recurrent aspiration pneumonia, Oral-pharyngeal dysphagia ORPHA:98897
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Polyhydramnios, Anemia, Bone marrow hypoce... OMIM:603467
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Anemia, Broad-based gait, Dysdiadochokinesis, Gait dist... OMIM:616541
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ... OMIM:601559
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Fe... ORPHA:140
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Pneumonia, Recurrent respiratory infections, Cryptorchidism, Edema ORPHA:98905
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Hypoxemia, Splenomegaly, Enlarged lacrimal glands, Pancytop... OMIM:181000
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Decreased circulating carnitine concentration, Decreased activity of NADPH oxidase,... ORPHA:431361
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Polycythemia Vera
Acute leukemia, Myelofibrosis, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis, Paresthesia ORPHA:729
Bloom Syndrome
Squamous cell carcinoma, Malar rash, Leukemia, Lymphoma, Cryptorchidism, Facial telangiectasia in... OMIM:210900
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Short finger, Rhizomelia, Cone-shaped epiphyses of the phalanges of... OMIM:250220
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Pneumothorax, Renal tubular epithelial necrosis, Sepsis, Pyoderma,... ORPHA:79404
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Rhinitis, Chronic sinusitis, Bronchiectasis OMIM:618063
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:620197
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Carney Complex
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor... ORPHA:1359
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Increased proportion of CD25+ mast cells, Periodontitis, Recurrent infectio... ORPHA:167
Lissencephaly Due To Lis1 Mutation
Polyhydramnios, Dysgyria, Posterior predominant thick cortex pachygyria, Agyria, Aspiration pneum... ORPHA:95232
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Fibroma, Gastroesophageal reflux, Diffuse leiomyomatosis, Aspiration pneumon... ORPHA:1018
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Wide anterior fontanel, Short long bone, Bowing of the long bones,... OMIM:249420
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Limited elbow extension, Distal symphalangism, Clinodactyly of the 5th finger, Ulnar bowing, Flar... OMIM:210720
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Faciocardiomelic Syndrome
Osteopenia, Polydactyly, Slender long bone, Hypoplastic pelvis, Thin bony cortex OMIM:612731
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Recurrent bacterial infections OMIM:244460
Cystic Fibrosis
Pneumothorax, Nontuberculous mycobacterial pulmonary infection, Steatorrhea, Cirrhosis, Recurrent... ORPHA:586
Roifman-Chitayat Syndrome
Pneumonia, Arthritis, Osteopenia OMIM:613328
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Femoral bowing, Tibial bowing, Camptodactyly... OMIM:231070
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Joint stiffness, Brachydactyly,... OMIM:277600
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
Ciliary Dyskinesia, Primary, 2
Sinusitis, Recurrent respiratory infections, Otitis media, Bronchiectasis OMIM:606763
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... OMIM:250250
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Craniosynostosis, Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess OMIM:147060
Pulmonary Alveolar Microlithiasis
Pneumothorax, Peripheral edema, Pleural thickening, Hepatomegaly, Bronchitis, Testicular microlit... ORPHA:60025
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Abnormal hip bone morphology, Tibial bowing, Abnormally ossified vert... ORPHA:175
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Bronchitis, Biliary ci... ORPHA:289390
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C... ORPHA:1830
Congenital Tracheomalacia
Pneumothorax, Partial anomalous pulmonary venous return, Emphysema, Cyanosis, Gastroesophageal re... ORPHA:95430
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration OMIM:615010
Kasabach-Merritt Phenomenon
Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Thrombocytopenia, Micr... ORPHA:2330
Acute Liver Failure
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, H... ORPHA:90062
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Dysphagia, Aspiration pneumonia ORPHA:52368
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia ORPHA:93552
Spondyloocular Syndrome
Osteopenia, Femur fracture, Arachnodactyly, Long fingers, Overlapping toe, Long toe, Thin bony co... OMIM:605822
Patent Urachus
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections ORPHA:431341
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Aspiration pneumonia, Tricuspid regurgitatio... OMIM:619167
Mercury Poisoning
Episodic vomiting, Hypokalemia, Hypertension, Hypotension, Nausea, Tachycardia, Interstitial pneu... ORPHA:330021
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Bronchiectasis, Recurrent infections OMIM:615434
Chops Syndrome
Gastroparesis, Gastroesophageal reflux, Thick hair, Aspiration pneumonia, Curly hair, Constipatio... OMIM:616368
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia OMIM:605309
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Talipes equinovarus, Hyperextensibility of the finger joints, Osteoporosis, Long fingers, Long ha... OMIM:309583
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Flat acet... OMIM:211350
Pseudoaminopterin Syndrome
Limited elbow movement, Clinodactyly of the 5th toe, Short 4th metacarpal, Hip subluxation, Clubb... ORPHA:221120
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia, Chronic constipati... OMIM:300472
Mucopolysaccharidosis, Type Vi
Pulmonary insufficiency, Hepatomegaly, Reduced leukocyte arylsulfatase B activity, Sinus tachycar... OMIM:253200
Craniotubular Dysplasia, Ikegawa Type
Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Sclero... OMIM:619727
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating copper concentration, Recurrent infections... OMIM:300972
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
17Q11 Microdeletion Syndrome
Osteopenia, Diaphyseal dysplasia, Leukemia, Osteoporosis, Large hands, Thickened cortex of long b... ORPHA:97685
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Increased red blood cell count, Myocardial necrosis, Sinusitis, Nausea, P... ORPHA:68
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Hennekam-Beemer Syndrome
Hypotension, Mastocytosis, Vomiting, Telangiectasia of the skin, Arrhythmia, Pneumonia ORPHA:2135
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Goiter, Chronic rhinitis OMIM:617577
Cholera
Abnormal blood ion concentration, Hypokalemia, Diarrhea, Hypocalcemia, Dehydration, Hypovolemic s... ORPHA:173
Panbronchiolitis, Diffuse
Bronchiectasis, Hypoxemia OMIM:604809
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Recurrent bacterial infections OMIM:241410
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:319218
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Rothmund-Thomson Syndrome Type 2
Osteopenia, Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplastic anemia, Aplasia/... ORPHA:221016
Desmosterolosis
Osteopetrosis, Increased bone mineral density, Micromelia, Metatarsus adductus, Splenomegaly ORPHA:35107
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Elevated circulating creatine ... OMIM:242840
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Intention tremor, Head titubation, Dystonia, Ataxia, Lymphopenia, Dysmetria OMIM:619708
Cushing Disease
Lymphopenia, Leukocytosis, Osteoporosis, Decreased eosinophil count ORPHA:96253
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated... ORPHA:666
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl... OMIM:608328
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... OMIM:608940
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatic hemangioma, Abnormal bone ossification, Hepatomegaly, Generalized bone demineralization, ... ORPHA:73230
Rothmund-Thomson Syndrome Type 1
Osteopenia, Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplastic anemia, Anemia, ... ORPHA:221008
Tropical Endomyocardial Fibrosis
Eosinophilia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Bowing of th... ORPHA:667
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia OMIM:620005
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis ORPHA:764
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Plague
Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras... ORPHA:707
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating antibody lev... ORPHA:470
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c... ORPHA:297
Cystic Fibrosis
Steatorrhea, Cirrhosis, Pancreatitis, Hepatomegaly, Diarrhea, Meconium ileus, Dehydration, Biliar... OMIM:219700
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Aspiration pneumonia ORPHA:216866
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreas... ORPHA:77293
Leukocyte Adhesion Deficiency Type Ii
Anemia, Leukocytosis, Neutrophilia, Ataxia, Impaired tandem gait, Microcytic anemia ORPHA:99843
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:652
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Aplastic anemia, Reduced bone mineral density, Neutropenia, A... ORPHA:2909
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Gastroesophageal reflux, Bronchiolitis, Recurrent aspiration pneumonia, Spl... OMIM:230900
Hypermobile Ehlers-Danlos Syndrome
Limitation of joint mobility, Arachnodactyly, Osteoarthritis, Joint hypermobility, Osteolysis, Hi... ORPHA:285
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Sparse lateral eyebrow, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Infantile Neuroaxonal Dystrophy
Constipation, Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia ORPHA:35069
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Resting tremor, Leukocytosis, Thrombocytop... ORPHA:319213
Atelosteogenesis, Type I
Fibular aplasia, Short finger, Fused cervical vertebrae, Rhizomelia, Short metatarsal, Multinucle... OMIM:108720
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level, Recurrent bacterial infections OMIM:248500
Mucopolysaccharidosis Type 3
Chronic otitis media, Intermittent diarrhea, Hepatomegaly, Reduced bone mineral density, Recurren... ORPHA:581
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:620040
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Glycogen Storage Disease Ib
Pancreatitis, Hyperuricemia, Hyperlipidemia, Inflammation of the large intestine, Gout, Recurrent... OMIM:232220
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Prolonged G2 phase of cell cycle, Leuk... OMIM:600901
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Hirsutism, Cardiomyopathy, Aspiration pneumonia, Hepatosplenomegaly, Decreased b... ORPHA:79255
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia OMIM:618223
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Multiple carpal ossification centers, Generalized bone demineralization, Dislocated radial head, ... OMIM:143095
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Joint hypermobility, Hip dislocation, Fi... ORPHA:1106
Proximal Spinal Muscular Atrophy
Gastroparesis, Bradycardia, Gastroesophageal reflux, Constipation, Recurrent aspiration pneumonia... ORPHA:70
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Severe cytomegalovirus infection, Sepsis, Elevated circulating C-reactive p... OMIM:619573
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Coffin-Siris Syndrome
Patent ductus arteriosus, Recurrent infections, Hirsutism, Sparse scalp hair, Aspiration pneumoni... ORPHA:1465
Degcags Syndrome
Premature graying of hair, Cholestasis, Abnormal spleen morphology, Low posterior hairline, Pulmo... OMIM:619488
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypoplastic iliac win... OMIM:114290
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Geleophysic Dysplasia 3
Pneumonia, Polyhydramnios, Mitral regurgitation, Hepatomegaly OMIM:617809
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Prolonged G2 phase of cell cycle, Leuk... OMIM:227650
Marburg Hemorrhagic Fever
Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Dysesthesia, Abnormal lympho... ORPHA:99826
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Abnormal circulating IgG le... OMIM:620376
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Down Syndrome
Impaired pain sensation, Leukemia, Abnormality of the lymphatic system, Gait disturbance, Polycyt... ORPHA:870
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hamartoma OMIM:258865
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Talipes eq... OMIM:309350
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Trichiasis, Renal tubular epithelial necrosis, Sepsis, Nail dystro... ORPHA:95455
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Chronic constipation, Aspiration pneumonia OMIM:616430
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:607143
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase... OMIM:256040
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia ORPHA:53351
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Prolonged G2 phase of cell cycle, Leuk... OMIM:227645
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Postaxial hand ... OMIM:304120
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Decreased eosinophil count, Leukocytosis, Osteoporosis, Neoplasm ... ORPHA:99889
Caroli Syndrome
Liver abscess, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated hyperbi... ORPHA:480520
Marshall-Smith Syndrome
Large sternal ossification centers, Patent ductus arteriosus, Brittle hair, Highly arched eyebrow... OMIM:602535
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Pancreatitis, Hyperuricemia, Periodontitis, Thyroiditis, Hyperlipidemia, In... ORPHA:79259
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 level ORPHA:79078
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Patent ductus arteriosus, Prolonged G2... OMIM:227646
Bickerstaff Brainstem Encephalitis
Severe infection, Respiratory tract infection, Pneumonia, Hypercapnia, Recurrent gastroenteritis ORPHA:79138
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Atelectasis, Pulmonary arterial hypertension, Pulmonary artery stenosis, ... OMIM:615067
Hennekam Syndrome
Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopeni... ORPHA:2136
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis, Splenomegaly, Lymphopenia OMIM:613471
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Pathologic fracture, Tibial bowing, Osteoporosis, Metaphyseal widening, Joint hypermo... OMIM:259770
Lassa Fever
Increased circulating IgM level ORPHA:99824
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Ascites, Aspiration pneumonia, Thrombocytopenia, Splenomegal... OMIM:301072
Mesomelia-Synostoses Syndrome
Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti... OMIM:600383
Chronic Graft Versus Host Disease
Pneumothorax, Nail dystrophy, Elevated circulating hepatic transaminase concentration, Gastroesop... ORPHA:99921
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Spinal cord tumor, Gastroesophageal reflux, Recurrent urinary tract infections, Pilomatrixoma, Pu... ORPHA:353281
Cornelia De Lange Syndrome 1
Curly eyelashes, Gastroesophageal reflux, Highly arched eyebrow, Hirsutism, Hypoplastic nipples, ... OMIM:122470
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Early ossification of capital femoral ep... ORPHA:397715
Atypical Werner Syndrome
Rocker bottom foot, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand... ORPHA:79474
Khan-Khan-Katsanis Syndrome
Neutropenia, Anemia, Lymphopenia OMIM:618460
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Agyria, Gray matter heterotopia, Recurrent aspiration pneumonia, Pachygyria, Liss... OMIM:247200
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Aspartylglucosaminuria
Abnormal cortical bone morphology, Arthritis, Joint stiffness, Abnormal morphology of ulna, Splen... ORPHA:93
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Dysphagia, Aspiration pneumonia, Abnormal circulating enzyme... ORPHA:845
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating transferrin conc... ORPHA:90363
Syndromic Diarrhea
Abnormality of iron homeostasis, Hypoplasia of the thymus, Increased mean platelet volume, Spleno... ORPHA:84064
Viss Syndrome
Hypereosinophilia OMIM:619472
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Severe B lymphocytopenia ORPHA:83617
Mgat2-Cdg
Impaired platelet aggregation, Decreased circulating IgG level, Decreased circulating antibody le... ORPHA:79329
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Hutchinson-Gilford Progeria Syndrome
Reduced bone mineral density, Short clavicles, Osteolytic defects of the distal phalanges of the ... ORPHA:740
Niemann-Pick Disease Type C
Hydrops fetalis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Ascites, Aspiration pneumonia, A... ORPHA:646
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Recurrent urinary tract infections, Aspiration pneumonia, Constipation, ... ORPHA:99027
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hypermobility, Talipes equinovarus ORPHA:286
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Sinus bradycar... OMIM:619482
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Joint hypermobility, Thi... OMIM:613658
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro... ORPHA:97214
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Anemia, Pancytopenia, Elliptocytosis, Leukopenia, Thrombocytopenia, Recurrent frac... ORPHA:2785
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Scleromyxedema
Paraproteinemia ORPHA:167635
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Recurrent respiratory infections, Aspiration pneumonia, Hypoxemia, Dysphagia, Hyp... ORPHA:2020
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili... ORPHA:99829
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Gastroesophageal reflux, Pulmonary arterial hypertension, Increased nuchal translucency, Synophry... ORPHA:280633
Fontaine Progeroid Syndrome
Low posterior hairline, Recurrent aspiration pneumonia, Craniosynostosis, Oligohydramnios, Gray m... OMIM:612289
Systemic Lupus Erythematosus
Cheilitis, Malar rash, Arthritis, Discoid lupus rash, Hypertension, Alopecia, Leukopenia, Raynaud... ORPHA:536
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, Bronchiectasis, ... OMIM:123700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Gastroesophageal... ORPHA:444077
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Recurrent infections, Episcleritis, Eczematoid dermatitis, Blepharitis, Keratitis, Con... ORPHA:2273
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... OMIM:617062
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level OMIM:617303
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Patent ductus arteriosus, Gastroesophageal reflux, ... OMIM:616268
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Anemia, Syncope, Tooth abscess, Recurrent aspiration ... ORPHA:642
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Trichiasis, Polyhydramnios, Gastroesophageal reflux, Highly arched eyebrow, Recurrent urinary tra... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Trichiasis, Polyhydramnios, Gastroesophageal reflux, Highly arched eyebrow, Recurrent urinary tra... ORPHA:353277
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Impaired neutrophil chemotaxis, Decreased circulating... ORPHA:3132
Dermatomyositis
Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration ORPHA:221
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Dysphagia, Patent ductus arteriosus, Craniosynostosis, Enlarged o... ORPHA:2745
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Alkaptonuria
Reduced bone mineral density, Hemolytic anemia, Methemoglobinemia ORPHA:56
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, High anterior hairline, Anemia, Gastroesophageal reflux, Aspiration pneumonia, Osteop... ORPHA:438213
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulating IgG level ORPHA:505248
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Alopecia of scalp, Broad eyebrow, Absent eyelashes, Sparse scalp hair, Hypo... OMIM:264090
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Panhypopituitaris... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Panhypopituitaris... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Panhypopituitaris... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Panhypopituitaris... ORPHA:220386
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Pmm2-Cdg
Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding globulin, Peric... ORPHA:79318
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Trichinellosis
Increased circulating IgE level ORPHA:863
Doors Syndrome
Polyhydramnios, Gastroesophageal reflux, Spina bifida occulta, Capillary hemangioma, Polymicrogyr... ORPHA:79500
Kabuki Syndrome 1
Recurrent otitis media, Recurrent infections, Highly arched eyebrow, Hirsutism, Cryptorchidism, S... OMIM:147920
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Lafora Disease
Recurrent aspiration pneumonia, Hepatic failure ORPHA:501
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Absent sternal ossification, Hypoplastic nipples, Cardiomyopathy... OMIM:216340
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Digeorge Syndrome
Impaired T cell function OMIM:188400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Stat1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Stat1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Molecular dissection of plasmacytoid dendritic cell activation in vivo during a viral infection. The EMBO journal (August 2018) Stat1tm1d(EUCOMM)Ciphe PMC6166132

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MGI Allele Allele Type Produced
Stat1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Stat1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Stat1tm2b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Stat1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Stat1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Stat1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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