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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Gross Pathology and Tissue Collection

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3 Images

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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
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Recurrent herpes, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectiou... ORPHA:391487
Immunodeficiency 31C
Osteopenia, Recurrent respiratory infections, Lymphopenia, Impaired lymphocyte transformation wit... 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
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease 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 herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent 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
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... 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
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Dysplasia Of Head Of Femur, Meyer Type
Waddling gait, Multicentric femoral head ossification, Antalgic gait, Leukocytosis, Delayed femor... ORPHA:168621
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... OMIM:614470
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... OMIM:605258
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Recurrent bacterial infections, Increased c... OMIM:608106
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Impaired pain sensation ORPHA:2582
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Short distal phalanx of finger ORPHA:2776
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,... ORPHA:70578
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... OMIM:613500
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Juvenile Hyaline Fibromatosis
Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... ORPHA:79106
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pneumonia, Agamma... OMIM:300400
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Kimura Disease
Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Nasal... ORPHA:70587
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol... ORPHA:668
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Heart block, Tachypnea, Increased circulating ... ORPHA:542323
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... OMIM:613502
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:607115
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:601859
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chro... OMIM:608971
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity OMIM:608898
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia ORPHA:100024
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... OMIM:608184
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... ORPHA:73
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... OMIM:612692
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Rosaï-Dorfman Disease
Osteolysis, Anemia ORPHA:158014
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... ORPHA:50809
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Chronic infection, Congestive heart fail... ORPHA:139507
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Myeloma, Multiple
Paraproteinemia OMIM:254500
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... OMIM:300636
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent viral infections, Severe varicella zoster infection, Decreased proportion of CD4-positi... OMIM:300853
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Ollier Disease
Micromelia, Joint stiffness, Osteolysis, Abnormal metaphysis morphology, Anemia ORPHA:296
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... ORPHA:2204
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... ORPHA:486
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, P... ORPHA:330012
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:603909
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ... ORPHA:2774
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... OMIM:615513
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia OMIM:615387
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Necrotizing Enterocolitis
Shock, Hyponatremia, Neonatal sepsis, Apnea, Edema, Leukocytosis, Diarrhea, Peritonitis, Bloody d... ORPHA:391673
Intrinsic Factor Deficiency
Somatic sensory dysfunction, Increased RBC distribution width, Megaloblastic anemia, Increased me... OMIM:261000
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Diarrhea, Pedal edema, Cardiorespiratory arr... ORPHA:188
Complement Component 5 Deficiency
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease OMIM:609536
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Shigellosis
Sepsis, Abnormal blood ion concentration, Dehydration, Uveitis, Paralytic ileus, Hypovolemic shoc... ORPHA:810
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... OMIM:240500
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Basal cell car... ORPHA:314473
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Hepatosplen... OMIM:619644
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis,... ORPHA:169160
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Cranio-Osteoarthropathy
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... ORPHA:1525
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, T lymphocytopenia, Pa... OMIM:601457
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b... ORPHA:93160
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Abnormal natural killer cell ... OMIM:613101
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Osteolysis ORPHA:494
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... ORPHA:330001
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Ort... ORPHA:75249
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Chronic diarrhea, Bronchiectasi... OMIM:617638
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Abnormal metaphysis... ORPHA:1657
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... OMIM:602080
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Limited e... OMIM:265900
Microlissencephaly
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... ORPHA:1083
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali... ORPHA:2552
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Tenosynovial Giant Cell Tumor
Joint stiffness, Limitation of joint mobility, Osteolysis, Abnormal shoulder morphology, Abnormal... ORPHA:66627
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Global systolic dysfunction, Hepatomegaly, Abnorma... ORPHA:57777
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Acute myelo... OMIM:159550
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, ... ORPHA:397596
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Cutaneous abscess OMIM:147060
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Edema, Pulmonary embolism, Periorbital edema, Respiratory tract infection, ... ORPHA:567548
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Periorbital edema, Uv... ORPHA:32960
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Paresthesia, Eosinophilia ORPHA:3165
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma, Pleural effusion, Ascites, Ab... ORPHA:314478
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp... ORPHA:324964
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... ORPHA:31204
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade... ORPHA:331206
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Vomiting, Neutropen... ORPHA:73263
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Eosinophilia ORPHA:99965
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Craniosynostosis OMIM:618523
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... OMIM:308240
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Ramon Syndrome
Osteolysis ORPHA:3019
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Wells Syndrome
Eosinophilia ORPHA:901
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Malignant Peritoneal Mesothelioma
Dyspnea, Peritonitis, Ileus, Pedal edema, Neoplasm, Ascites ORPHA:168811
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Genetic Steroid-Resistant Nephrotic Syndrome
Edema, Minimal change glomerulonephritis, Respiratory tract infection, Periorbital edema, Periton... ORPHA:656
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Acute Lung Injury
Shock, Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatiti... ORPHA:178320
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Halberd-s... ORPHA:2635
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane... OMIM:304790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... OMIM:619638
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... OMIM:619795
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... OMIM:137100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Frank-Ter Haar Syndrome
Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morphology, Clinodactyl... ORPHA:137834
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... OMIM:166600
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Glutathione Synthetase Deficiency
Intention tremor, Hemolytic anemia, Ataxia, Neutropenia OMIM:266130
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Intestinal obstruction, Skin rash, Myocardial infarction, Or... ORPHA:342
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Pleuritis, Erysipelas OMIM:134610
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infecti... ORPHA:98813
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Infantile Myofibromatosis
Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Roifman Syndrome
Eosinophilia, Delayed proximal femoral epiphyseal ossification, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... ORPHA:727
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recu... ORPHA:930
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:603552
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial ef... ORPHA:199241
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... OMIM:614069
Mogs-Cdg
Respiratory distress, Hepatomegaly, Generalized edema, Pulmonary edema, Apnea, Hypoventilation, E... ORPHA:79330
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac dea... OMIM:115197
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Recurrent respiratory infections,... ORPHA:980
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly OMIM:619126
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Persistent EB... OMIM:620282
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... ORPHA:75564
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Reduced natural killer cell activity, Recurrent upper respira... OMIM:615559
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Roifman Syndrome
Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... ORPHA:83471
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Non-Hodgkin lymphoma, Recurrent staphylococcal infections, Severe va... ORPHA:331235
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... ORPHA:36238
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Acute colitis, Myocardial infarction, Leukocytosis, Schistocytosis... ORPHA:90038
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... ORPHA:98850
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Biliary hyperplasia, Sepsis, Abnormal left ventricular function, Leu... OMIM:619991
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... ORPHA:371428
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... ORPHA:572
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Primary Peritoneal Carcinoma
Peritonitis, Neoplasm, Constipation ORPHA:168829
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4... ORPHA:443811
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia OMIM:229050
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... ORPHA:60033
Grant Syndrome
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... ORPHA:2097
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia ORPHA:293173
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Pneumonia, Cholangiti... OMIM:619652
Acute Peripheral Arterial Occlusion
Leukocytosis, Paresthesia, Impaired distal tactile sensation ORPHA:90064
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, Calvarial hyper... ORPHA:52430
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Tularemia
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombo... ORPHA:3392
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Widow's peak, Recurrent otitis media, Periodontitis, Reduction of neutro... OMIM:266265
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chro... ORPHA:1163
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis ORPHA:391
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Gastritis, Abnormal pat... ORPHA:31826
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... OMIM:612852
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Seps... ORPHA:464370
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... ORPHA:249
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... ORPHA:64739
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Immunodeficiency 23
Hemolytic anemia, Somatic sensory dysfunction, Ataxia, Eosinophilia, Abscess, Neutropenia, Lympho... OMIM:615816
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro... OMIM:617388
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Pachygyria, Polymicrogyria, Aspiration pneumonia OMIM:609528
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... OMIM:308230
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur... ORPHA:79124
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ... OMIM:261740
Peritoneal Cystic Mesothelioma
Peritonitis, Neoplasm, Constipation ORPHA:168816
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma ORPHA:141152
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eosinophili... OMIM:618282
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ... ORPHA:2796
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Patent ductus arteriosus, Peritonitis, Recurr... OMIM:619351
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia, Neutropenia OMIM:616949
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Immunodeficiency 12
Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Recurrent bacterial infections,... OMIM:615468
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... ORPHA:1486
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:615139
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233710
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema... OMIM:613490
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Lymphadenopathy ORPHA:139402
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... ORPHA:66529
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Ck Syndrome
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility OMIM:300831
Felty Syndrome
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Neutropenia... ORPHA:47612
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... OMIM:612840
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Resp... ORPHA:679
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... ORPHA:1572
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intr... OMIM:610910
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, B-cell lymphoma, A... OMIM:102700
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia OMIM:620366
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233690
Urachal Cyst
Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Severe infection, P... ORPHA:488
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex OMIM:176920
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti... ORPHA:97244
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia OMIM:610738
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor... ORPHA:848
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno... ORPHA:77259
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Japanese Encephalitis
Hyponatremia, Respiratory distress, Irregular respiration, Neutrophilia, Meningitis, Diarrhea, In... ORPHA:79139
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... OMIM:617780
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Hepatomegaly, Psoriasiform dermatit... OMIM:616100
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia... ORPHA:3261
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Delayed ossification of carpal bones, Eosinophilia OMIM:617425
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... OMIM:617952
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Cystic Echinococcosis
Eosinophilia, Abscess, Bone cyst, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess ORPHA:400
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... ORPHA:2484
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:241530
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Tachypnea, Vomiting, P... ORPHA:466677
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Osteolysis, Osteolytic defects of the distal phalanges of the hand... ORPHA:90154
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Iro... ORPHA:37042
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Melioidosis
Shock, Brain abscess, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Foot osteom... ORPHA:31202
Amyloidosis, Hereditary, Transthyretin-Related
Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension due to autonom... OMIM:105210
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p... ORPHA:90153
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased mean corpuscular volume, Stomatocytosi... OMIM:185000
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis ORPHA:220393
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia OMIM:616744
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, St... ORPHA:206594
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... ORPHA:69736
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural killer c... ORPHA:540
Bloom Syndrome
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Neoplasm, Gastroesophag... ORPHA:125
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory distress, Tachycardia, Respiratory failur... ORPHA:264675
Whim Syndrome
Sinusitis, Severe periodontitis, Lymphadenitis, Sepsis, Abnormal neutrophil morphology, Papilloma... ORPHA:51636
Alveolar Echinococcosis
Liver abscess, Ataxia, Eosinophilia, Bone cyst, Abnormal spleen morphology, Anemia, Cutaneous abs... ORPHA:284
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Chorea, Hyperammonemia, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:289916
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Patent ductus arteriosus, Malabsorption, Recurrent infections ORPHA:99811
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Pneumonia ORPHA:85179
Ogden Syndrome
Apnea, Lymphedema, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency ane... OMIM:300855
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent... OMIM:618048
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Hypercalcemia, Hyperkalemia, Hy... ORPHA:199299
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Splenomegaly, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Thrombocytopenia ORPHA:79312
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... OMIM:127550
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu... ORPHA:464329
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... ORPHA:793
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Lymphoma, Bronchiectasis, Recurrent infections ORPHA:477814
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... ORPHA:3226
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... ORPHA:2169
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Dent Disease 1
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Eosinophilia, Craniosynostosis ORPHA:2314
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bon... OMIM:301078
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:277440
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia, Chronic diarrhea, Recurrent upper respiratory tract infections, Bronchiectasis, Recur... OMIM:619446
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Somatic sensory dysfunction, Generalized lymphadenopathy, Neutrophilia, Eosinophil... ORPHA:3260
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Craniosynostosis, Th... OMIM:259700
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Elevated circulating C-reactive protein concentration, Crackle... ORPHA:79126
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph... ORPHA:2032
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Lymphopenia, Leukopenia, Reduced bone mineral density OMIM:620210
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... ORPHA:48435
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, H... OMIM:615673
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... OMIM:617021
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... ORPHA:1972
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Netherton Syndrome
Hypereosinophilia OMIM:256500
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenital thrombocyto... OMIM:618886
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bronchitis, Patent ductus arteriosus, Ventricular tachycardia, ... OMIM:601005
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Hepatocellular necrosis, Periportal fibrosis, Gastroesop... OMIM:201475
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro... OMIM:619381
Igg4-Related Pachymeningitis
Lymphadenitis, Somatic sensory dysfunction, Eosinophilia, Elevated circulating C-reactive protein... ORPHA:449427
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le... ORPHA:507
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Recurrent viral infections, Se... OMIM:606367
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly, Osteolysis ORPHA:678
Angiostrongyliasis
Hypereosinophilia, Paresthesia, Hyperesthesia ORPHA:74
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pul... OMIM:612387
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Lymphopenia, Aplasia/Hypoplasia of the thymus ORPHA:100
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... ORPHA:88630
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Mixed Connective Tissue Disease
Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Leukopenia, Arthritis ORPHA:809
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... ORPHA:91547
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Lymphedema, Biliary tract neoplasm, ... ORPHA:662
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... OMIM:618935
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophi... ORPHA:508533
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Meier-Gorlin Syndrome 7
Craniosynostosis, Sagittal craniosynostosis, Heart block, Wide anterior fontanel, Cryptorchidism,... OMIM:617063
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... ORPHA:158048
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Cinca Syndrome
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:1451
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal fi... ORPHA:3035
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Polyhydramnios, Osteoporosis, Gastroesophageal reflux, Intermittent diarrhea, Recurrent aspiratio... OMIM:619971
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Carcinoid Syndrome
Elevated hepatic transaminase, Small intestine carcinoid, Intestinal carcinoid, Hepatic necrosis ORPHA:100093
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:617099
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... OMIM:619375
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia OMIM:612562
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Adult-Onset Still Disease
Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:829
H Syndrome
Hallux valgus, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Camptodact... ORPHA:168569
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... OMIM:613807
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell m... ORPHA:760
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Edema, Secretory diarrhea, Bloody diarrhea, Vo... ORPHA:544482
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f... OMIM:603553
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Eosinophilia ORPHA:183
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad... ORPHA:824
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati... ORPHA:97287
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Immunodeficiency 77
Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic p... OMIM:619223
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Riddle Syndrome
Conjunctival telangiectasia, Bronchitis, Recurrent viral infections, Otitis media, Decreased circ... ORPHA:420741
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend... ORPHA:3384
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... ORPHA:35687
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic in... ORPHA:2357
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Chime Syndrome
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... ORPHA:3474
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Sneddon Syndrome
Tremor, Lymphopenia, Impaired distal tactile sensation OMIM:182410
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... ORPHA:309282
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Myelodysplasia, Thrombocytopenia, Patent ductus... OMIM:617053
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:306400
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... ORPHA:70588
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... ORPHA:2035
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Pericardial effusion... ORPHA:411703
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:120100
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy ORPHA:79456
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr... ORPHA:1304
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... ORPHA:464321
Muckle-Wells Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:191900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Hyperammonemia, Dysphagia, Respiratory insufficiency, Simplified gyral pat... OMIM:618253
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Leukocytosis, Impaired tactile sensation, Hyperesthesia, Allodynia ORPHA:51890
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Heart murmur, Atrichia, Na... ORPHA:1867
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati... OMIM:156550
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... OMIM:613808
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... OMIM:608940
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... ORPHA:2590
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Osteopenia, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infectio... ORPHA:309288
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... OMIM:263700
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... OMIM:617052
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Recurrent herpes, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectiou... ORPHA:391487
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... OMIM:617718
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Splenomegaly,... OMIM:214500
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1302
Incontinentia Pigmenti
Finger syndactyly, Eosinophilia, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, A... ORPHA:464
Hajdu-Cheney Syndrome
Osteopenia, Brachydactyly, Bowing of the long bones, Recurrent fractures, Splenomegaly, Short toe... ORPHA:955
Mevalonic Aciduria
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... OMIM:610377
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... OMIM:613848
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia OMIM:617101
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis OMIM:617306
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Camptodactyly of finger, Mic... ORPHA:3206
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... OMIM:616037
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hepatomegaly, Tricuspid regurgitation, Atelec... OMIM:620233
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... ORPHA:1427
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Edema, Bloody diarrhea, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Ch... OMIM:615846
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Raynaud phenomenon, Respirat... ORPHA:79128
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Hyperten... ORPHA:567544
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypomagnese... ORPHA:90362
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia ORPHA:88
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive protein concentration, Splen... ORPHA:50918
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, High iliac wing, Osteopetrosis, Large iliac wing, Facial hyperost... ORPHA:2780
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis,... OMIM:220111
Ataxia-Telangiectasia
Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Acute ly... OMIM:208900
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased liver function, Dyspha... ORPHA:26791
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Narrow iliac wing, Anemia ORPHA:3042
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult... OMIM:166210
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal... OMIM:608612
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Recurrent viral ... ORPHA:293978
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Down-sloping shoulders, Coxa valga, Joint stiffness, Flexion contracture, Elbow flexi... OMIM:248370
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis, ... OMIM:619468
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia ORPHA:520
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... OMIM:615934
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Thin bony co... OMIM:230600
Gaucher Disease
Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi... ORPHA:355
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... ORPHA:292
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Igg4-Related Submandibular Gland Disease
Eosinophilia, Lymphadenopathy ORPHA:449432
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase ORPHA:71212
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Sepsis, Dehydration, Vomi... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Sarcoidosis
Hemolytic anemia, Eosinophilia, Hypercalcemia, Thrombocytopenia, Increased T cell count, Bone cys... ORPHA:797
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice OMIM:231680
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular ... OMIM:618278
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... OMIM:300106
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia ORPHA:95159
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response ... ORPHA:1855
Reni Syndrome
Lymphopenia, Hypoalbuminemia, Ataxia, Hypertriglyceridemia OMIM:617575
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten... OMIM:603903
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Recurrent bacterial infect... ORPHA:36412
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... ORPHA:2658
Chikungunya
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... ORPHA:324625
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... ORPHA:79277
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... OMIM:618476
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im... OMIM:618063
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, T l... OMIM:607944
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... OMIM:260400
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, As... ORPHA:79264
Majeed Syndrome
Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypoch... ORPHA:77297
Cleft Velum
Recurrent otitis media, Aspiration pneumonia, Oral-pharyngeal dysphagia ORPHA:99772
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Igg4-Related Ophthalmic Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:449563
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... ORPHA:2769
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... ORPHA:1652
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Orofaciodigital Syndrome Viii
Hamartoma, Recurrent aspiration pneumonia OMIM:300484
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Immunodeficiency 31C
Osteopenia, Recurrent respiratory infections, Lymphopenia, Impaired lymphocyte transformation wit... OMIM:614162
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Cryptorchidism, Abnormal resp... ORPHA:98905
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia, Cerebral edema OMIM:608033
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Leukocytosis, Ly... OMIM:615895
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Edema, Abnormal blood ion concentration, Sepsis, Dehydration, Gastrointesti... ORPHA:79404
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteopetrosis, Anemia OMIM:612301
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Restrictive ventilat... ORPHA:98897
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:66628
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Legionnaires Disease
Hyponatremia, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia ORPHA:549
Schimke Immunoosseous Dysplasia
Osteopenia, Waddling gait, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphop... OMIM:242900
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Recurrent infections, Gastroesophageal r... ORPHA:79243
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Short lower limbs, Hypoplastic iliac wing, Avascular necrosis of the capital fe... ORPHA:93315
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Insulin-Resistance Syndrome Type B
Osteoarthritis, Increased circulating IgG level, Leukopenia, Hypoalbuminemia, Abnormal salivary g... ORPHA:2298
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... OMIM:615688
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia OMIM:615758
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration OMIM:253700
Lead Poisoning
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Cranial hyperostosis, Imbal... ORPHA:330015
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells ORPHA:179494
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin... ORPHA:454831
Sarcoidosis, Susceptibility To, 1
Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland morpholog... OMIM:181000
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sin... OMIM:251260
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Neonatal sepsis, Endometrial carcinoma, Adrenal hyperplasia, Pneumonia, Jaundice, H... ORPHA:90790
Gm1 Gangliosidosis
Recurrent respiratory infections, Congestive heart failure, Patent ductus arteriosus, Splenomegal... ORPHA:354
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Abnormal ... OMIM:616541
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Fanconi Anemia, Complementation Group F
Pneumonia, Polyhydramnios, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:603467
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... ORPHA:140
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia ORPHA:67
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Hypokalemia, ... ORPHA:330021
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia ORPHA:935
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar... ORPHA:1018
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo... OMIM:231070
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Chédiak-Higashi Syndrome
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... ORPHA:167
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Decreased activity of NADPH oxidase, Aspiration pne... ORPHA:431361
Bloom Syndrome
Hepatic steatosis, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract inf... OMIM:210900
Cystic Fibrosis
Osteopenia, Sinusitis, Reduced forced expiratory volume in one second, Abnormality of the liver, ... ORPHA:586
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Chronic diarrhea, Bronchi... OMIM:301220
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Stuve-Wiedemann Syndrome 1
Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Os... OMIM:601559
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Abnormal pulmonary i... ORPHA:217563
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Lissencephaly Due To Lis1 Mutation
Agyria, Polyhydramnios, Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Pachy... ORPHA:95232
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids OMIM:619769
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Osteoporosis, ... OMIM:249420
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... OMIM:210720
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex OMIM:612731
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia OMIM:613328
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... OMIM:277600
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Cholera
Hyponatremia, Tachycardia, Diarrhea, Tachypnea, Abnormal blood ion concentration, Dehydration, Hy... ORPHA:173
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa... ORPHA:2330
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Chops Syndrome
Curly hair, Thick eyebrow, Gastroparesis, Thick hair, Splenomegaly, Patent ductus arteriosus, Syn... OMIM:616368
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... ORPHA:1830
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vita... OMIM:219700
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Carney Complex
Pituitary growth hormone cell adenoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm o... ORPHA:1359
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis... ORPHA:90062
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Nausea, Respiratory tract infe... ORPHA:68
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
17Q11 Microdeletion Syndrome
Osteopenia, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large hands, Leuk... ORPHA:97685
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Neutropenia, Abnormal bone o... ORPHA:175
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Vomiting, Hypotension, Mastocyt... ORPHA:2135
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl... OMIM:253200
Spondyloocular Syndrome
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... OMIM:605822
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... OMIM:309583
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Sagittal craniosynostosis, Postaxial polydactyly, Asplenia, Short... ORPHA:221120
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Aplasia/hypop... ORPHA:221016
Immunodeficiency 47
Decreased circulating copper concentration, Decreased circulating antibody level, Decreased circu... OMIM:300972
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Aspiration p... OMIM:619167
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... OMIM:619727
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Anemia, Stridor, Gastroesophageal reflux, Dysphagia, Br... OMIM:230900
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Sparse l... ORPHA:314655
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia OMIM:605309
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Metaphyseal s... ORPHA:221008
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... OMIM:242840
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Dysmetria, Dystonia, Lymphopenia, Intention tremor OMIM:619708
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis ORPHA:96253
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia ORPHA:75565
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Elbow flexion contracture,... OMIM:608328
Plague
Respiratory distress, Chapped lip, Edema, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectiou... ORPHA:707
Desmosterolosis
Increased bone mineral density, Micromelia, Metatarsus adductus, Splenomegaly, Osteopetrosis ORPHA:35107
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner... ORPHA:667
Osteogenesis Imperfecta
Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal ... ORPHA:666
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Chronic constipation, Re... OMIM:300472
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respiratory failure OMIM:617809
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Hypoa... ORPHA:171
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Abnormal circulating serin... ORPHA:470
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Dysphagia, Hyperostosis, Gastroesophageal reflux, He... ORPHA:73230
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Dysphagia ORPHA:216866
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis ORPHA:764
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplastic anemia, Aplasia... ORPHA:2909
Hypermobile Ehlers-Danlos Syndrome
Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflexibility ORPHA:285
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:620005
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Impaired tandem gait, Anemia ORPHA:99843
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Constipati... ORPHA:35069
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density ORPHA:652
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Oral-pharyngeal dysphagia, Xerostomia, Sepsis, Gastrointestinal inflammatio... ORPHA:95455
Glycogen Storage Disease Ib
Hyperlipidemia, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Hyperu... OMIM:232220
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Degcags Syndrome
Osteopenia, Polyhydramnios, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Prematur... OMIM:619488
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Lujo Hemorrhagic Fever
Resting tremor, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, ... ORPHA:319213
Atelosteogenesis, Type I
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... OMIM:108720
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Fanconi Anemia, Complementation Group E
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... OMIM:600901
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of... OMIM:143095
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Mucopolysaccharidosis Type 3
Synophrys, Atrioventricular block, Reduced bone mineral density, Coarse hair, Aspiration pneumoni... ORPHA:581
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Decreased beta-galactosidase activity, Aspir... ORPHA:79255
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Fanconi Anemia, Complementation Group A
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... OMIM:227650
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Coffin-Siris Syndrome
Sparse scalp hair, Thick eyebrow, Cryptorchidism, Patent ductus arteriosus, Recurrent upper respi... ORPHA:1465
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circulating C-react... OMIM:619573
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ... OMIM:309350
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Marshall-Smith Syndrome
Brittle hair, Large sternal ossification centers, Apnea, Bilateral cryptorchidism, Synophrys, Asp... OMIM:602535
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Orofaciodigital Syndrome Ix
Hamartoma, Recurrent aspiration pneumonia OMIM:258865
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Chronic constipation, Aspiration pneumonia OMIM:616430
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Fanconi Anemia, Complementation Group C
Pancytopenia, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutropenia, Leukemia,... OMIM:227645
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Leukocytosis, Osteoporosis, Abnormal lymph node morphology, Decreased eos... ORPHA:99889
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S... OMIM:304120
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia ORPHA:53351
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Chronic constipation, Restrictive ventilator... OMIM:619482
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recur... ORPHA:79259
Caroli Syndrome
Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir... ORPHA:480520
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level ORPHA:79078
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Fanconi Anemia, Complementation Group D2
Pancytopenia, Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anem... OMIM:227646
Chronic Graft Versus Host Disease
Fasciitis, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Alopecia, Bronchiectasis, Bronchio... ORPHA:99921
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Supernumerary nipple, Tac... ORPHA:397715
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Hennekam Syndrome
Craniosynostosis, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lympha... ORPHA:2136
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... OMIM:301072
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... ORPHA:353281
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... OMIM:259770
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... ORPHA:2020
Reynolds Syndrome
Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia OMIM:613471
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Hepat... ORPHA:845
Lassa Fever
Increased circulating IgM level ORPHA:99824
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... ORPHA:79474
Cornelia De Lange Syndrome 1
Pneumonia, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Low post... OMIM:122470
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... ORPHA:646
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Lupus nephritis, Raynaud phenomenon, Discoid lupus rash, Cheilitis, H... ORPHA:536
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Abnormal cortical bone mor... ORPHA:93
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... ORPHA:84064
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Cryptorchidism, Gray matter heterotopia, Lissencephaly, Pachygyria, Recurrent asp... OMIM:247200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... ORPHA:90363
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio... ORPHA:79329
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Coxa valga, Joint stiffness, Limited wrist movement, Osteoarthr... ORPHA:740
Primary Sjögren Syndrome
Normocytic anemia, Somatic sensory dysfunction, Chorea, Lymphadenopathy, Leukopenia, Normochromic... ORPHA:289390
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, Thrombocyto... ORPHA:2785
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Recurrent urinary tract infections, Constipation, Aspiration pneumonia, ... ORPHA:99027
Viss Syndrome
Hypereosinophilia OMIM:619472
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility, Talipes equinovarus ORPHA:286
Eisenmenger Syndrome
Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... ORPHA:97214
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Thick eyebrow, Decreased response to growth hormone stimulation test, Highly arched e... ORPHA:444077
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Increased nuchal ... ORPHA:280633
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Thin bony cortex, Pancytopenia, Rickets, Reduced bone mineral density, ... OMIM:613658
Scleromyxedema
Paraproteinemia ORPHA:167635
Fontaine Progeroid Syndrome
Synophrys, Low anterior hairline, Coarse hair, Gastroesophageal reflux, Recurrent aspiration pneu... OMIM:612289
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... ORPHA:353277
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona... OMIM:616268
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... ORPHA:2273
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
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Bone marrow hypocellularity OMIM:617303
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Orthostatic hypotension due to autonomic dysfunction, Osteomyelitis, Abscess, Recurren... ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Cryptorchidism... ORPHA:438213
Opitz Gbbb Syndrome
Enlarged ovaries, Craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Widow's peak, Strid... ORPHA:2745
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity ORPHA:505248
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart r... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart r... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart r... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Dysphagia, Abnormal heart r... ORPHA:220386
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Sparse scalp hair, Hypertriglyceridemia, Absent eyebrow, Pneumo... OMIM:264090
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Pmm2-Cdg
Osteopenia, Respiratory distress, Lymphedema, Intracranial hemorrhage, Hypoalbuminemia, Hepatic f... ORPHA:79318
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Polyhydramnios, Sagittal craniosynostosis, Low anterio... ORPHA:79500
Trichinellosis
Increased circulating IgE level ORPHA:863
Cysticercosis
Increased circulating antibody level ORPHA:1560
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Kabuki Syndrome 1
Hemolytic anemia, Highly arched eyebrow, Autoimmune thrombocytopenia, Sparse eyebrow, Cryptorchid... OMIM:147920
Lafora Disease
Hepatic failure, Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Sparse scalp hair, Absent sternal ossification, Absent nipple, Sparse eyelashes, Polyhydramnios, ... 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Meningeal macrophages protect against viral neuroinfection. Immunity (November 2022) Stat1tm1c(EUCOMM)Wtsi 36323311
Molecular dissection of plasmacytoid dendritic cell activation in vivo during a viral infection. The EMBO journal (August 2018) Stat1tm1d(EUCOMM)Ciphe PMC6166132

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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