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Gene: Cish MGI:103159

Gene Summary

Name:

cytokine inducible SH2-containing protein

Synonyms:

CIS1, Cis, F23, cytokine-inducible SH2 protein

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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 circulating chloride level		Cish^{tm1a(KOMP)Wtsi}	HOM		Early adult	6.02×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	homozygote	100% (2 of 2)
Aorta	N/A	homozygote	Not available
Blood vessel	N/A	homozygote	100% (2 of 2)
Bone	N/A	homozygote	0.0% (0 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Brainstem	N/A	homozygote	Not available
Brown adipose tissue	N/A	homozygote	100% (2 of 2)
Cartilage tissue	N/A	homozygote	100% (2 of 2)
Cerebellum	N/A	homozygote	Not available
Cerebral cortex	N/A	homozygote	Not available
Eye	N/A	homozygote	100% (2 of 2)
Gall bladder	N/A	homozygote	100% (2 of 2)
Heart	N/A	homozygote	100% (2 of 2)
Hippocampus	N/A	homozygote	Not available
Hypothalamus	N/A	homozygote	Not available
Kidney	N/A	homozygote	100% (2 of 2)
Large intestine	N/A	homozygote	100% (2 of 2)
Liver	N/A	homozygote	100% (2 of 2)
Lower urinary tract	N/A	homozygote	100% (2 of 2)
Lung	N/A	homozygote	100% (2 of 2)
Lymph node	N/A	homozygote	100% (2 of 2)
Mammary gland	N/A	homozygote	50% (1 of 2)
Esophagus	N/A	homozygote	100% (2 of 2)
Olfactory lobe	N/A	homozygote	Not available
Ovary	N/A	homozygote	50% (1 of 2)
Oviduct	N/A	homozygote	50% (1 of 2)
Pancreas	N/A	homozygote	100% (2 of 2)
Parathyroid gland	N/A	homozygote	100% (2 of 2)
Peripheral nervous system	N/A	homozygote	100% (2 of 2)
Peyer's patch	N/A	homozygote	100% (2 of 2)
Pituitary gland	N/A	homozygote	100% (2 of 2)
Prostate gland	N/A	homozygote	50% (1 of 2)
Skeletal muscle tissue	N/A	homozygote	100% (2 of 2)
Skin	N/A	homozygote	100% (2 of 2)
Small intestine	N/A	homozygote	100% (2 of 2)
Spinal cord	N/A	homozygote	100% (2 of 2)
Spleen	N/A	homozygote	100% (2 of 2)
Stomach	N/A	homozygote	100% (2 of 2)
Striatum	N/A	homozygote	Not available
Testis	N/A	homozygote	50% (1 of 2)
Thymus	N/A	homozygote	100% (2 of 2)
Thyroid gland	N/A	homozygote	100% (2 of 2)
Trachea	N/A	homozygote	100% (2 of 2)
Uterus	N/A	homozygote	50% (1 of 2)
White adipose tissue	N/A	homozygote	50% (1 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Cish^{tm1a(KOMP)Wtsi}
head, HOM, Female, WTSI

Cish^{tm1a(KOMP)Wtsi}
body, HOM, Female, WTSI

Cish^{tm1a(KOMP)Wtsi}
head, HOM, Female, WTSI

Cish^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

Cish^{tm1a(KOMP)Wtsi}
body, HOM, Female, WTSI

View all 57 images

Cish^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Cish^{tm1a(KOMP)Wtsi}
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Cish 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.

Human diseases associated with Cish (0 diseases)
Human diseases predicted to be associated with Cish (607 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ...	ORPHA:60026
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy...	OMIM:613953
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy...	ORPHA:133
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating tota...	OMIM:619510
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva...	OMIM:178500
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho...	OMIM:603909
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,...	OMIM:612387
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz...	OMIM:243700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve...	OMIM:618523
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Hepatomegaly, Thrombocyt...	ORPHA:47612
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology	ORPHA:2582
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Usual interstitial...	OMIM:614742
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Hepatomegaly, Autoimmune thromb...	OMIM:614470
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,...	OMIM:618282
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect...	ORPHA:1163
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec...	OMIM:147060
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormal pleura morphology, Crackles, Portal hypertension, Dyspnea, Nodular regenerative hyperpla...	ORPHA:210136
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, ...	ORPHA:2902
Roifman Syndrome	Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Lym...	ORPHA:353298
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h...	OMIM:619767
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent pneumonia, Recurrent upper respiratory tract infections, ...	OMIM:615518
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli...	OMIM:617241
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Lymphopenia, Decr...	OMIM:102700
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De...	ORPHA:397596
Immunodeficiency 88	Asthma, Eosinophilia	OMIM:619630
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Idiopathic Pulmonary Fibrosis	Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f...	ORPHA:2032
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod...	ORPHA:79126
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenom...	OMIM:607616
Immunodeficiency 7	Chronic oral candidiasis, Autoimmune hemolytic anemia, Recurrent respiratory infections, Hepatome...	OMIM:615387
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ...	ORPHA:3261
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Skin rash, Increased circulating IgA level, Follicula...	OMIM:615934
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec...	OMIM:619126
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia	ORPHA:517
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Ichthyosis-Prematurity Syndrome	Neonatal respiratory distress, Eosinophilia	ORPHA:88621
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu...	OMIM:178550
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ...	ORPHA:39041
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A...	OMIM:607115
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Increase...	OMIM:304790
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar h...	ORPHA:99931
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Asbestos Intoxication	Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Mediastinal lymphaden...	ORPHA:2302
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ...	OMIM:618459
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Pulmonary fibrosis, Cirrhos...	OMIM:614743
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng...	ORPHA:3392
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Roifman Syndrome	Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent...	OMIM:616651
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu...	OMIM:616371
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis...	OMIM:616373
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Increased...	ORPHA:277
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Eosinophi...	ORPHA:400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Thyroiditis, Hepatitis, Lymphadeno...	ORPHA:139402
Peeling Skin Syndrome 1	Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, I...	OMIM:256500
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepatomegaly, Splenomegaly, Media...	ORPHA:809
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem...	OMIM:618999
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ...	OMIM:618165
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportio...	OMIM:606367
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eos...	OMIM:615816
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic intersti...	OMIM:618495
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Anemia...	ORPHA:90060
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,...	ORPHA:79128
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv...	ORPHA:724
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, He...	OMIM:616100
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, De...	ORPHA:90045
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Re...	OMIM:619644
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Reduced natural killer ce...	OMIM:608233
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Acne, Recurrent sk...	OMIM:300635
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Diabetes mellitus, Pneumonia, Osteomyelitis, Bronc...	ORPHA:449280
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Acute Lung Injury	Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu...	ORPHA:178320
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Asthma, Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Spl...	OMIM:612852
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i...	OMIM:614699
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab...	ORPHA:229717
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Hepatomegaly, Anisocytosis, ...	OMIM:618278
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c...	OMIM:610978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor...	ORPHA:420741
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc...	ORPHA:2969
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronch...	OMIM:616005
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Asthma, Increased circulating ...	ORPHA:449400
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency	ORPHA:2111
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Restrictive ventilatory defect, Pulmonary fibrosis, Delayed puberty, Erysipelas	OMIM:615704
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In...	ORPHA:2314
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu...	OMIM:613179
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko...	ORPHA:293173
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Atopic dermatitis, Ascites, Anemia	ORPHA:2070
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa...	OMIM:605258
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, ...	ORPHA:284
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Pulmonary fibrosis, Type I diabetes mellitus, Emphys...	OMIM:620365
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo...	OMIM:619752
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia	OMIM:253600
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Thymus hyperplasia, Chylothorax	OMIM:619036
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug...	ORPHA:3260
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti...	OMIM:127550
Immunodeficiency 11A	Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased...	OMIM:615206
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Fetal ascites, Splenomegaly,...	OMIM:607625
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In...	ORPHA:98813
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Nasal polyposis, R...	ORPHA:183
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie...	OMIM:620233
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog...	ORPHA:449427
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarthritis, Abnorm...	ORPHA:77259
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis	OMIM:613412
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l...	ORPHA:37748
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Recurrent respiratory infections, Hepatomegaly, Recurrent skin infections, Splenomeg...	OMIM:620210
Q Fever	Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He...	ORPHA:781
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio...	OMIM:613490
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary interstitial morphology, Ar...	OMIM:616414
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Absent outer dynein arms, Bronchiectasis, Decrea...	OMIM:612444
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Cholangitis, Abnormality of the thyroid gland, Re...	ORPHA:449432
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni...	OMIM:613807
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts	OMIM:617425
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Autoimmune t...	ORPHA:227990
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmona...	OMIM:613989
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis, Goiter	OMIM:617175
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatic steatosis, Microcytic anemia, Abnormal pulmonary interstitial morphology, Hepatosplenomeg...	OMIM:619013
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Leukopenia, Tubulointerstitial nephritis, Hash...	ORPHA:227982
Typhoid	Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou...	ORPHA:99745
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Diabetes mellitus, Sinusitis, Re...	ORPHA:169105
Interstitial Lung And Liver Disease	Hepatic steatosis, Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory in...	OMIM:615486
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,...	OMIM:613011
Sarcoidosis	Abnormal nasal mucosa morphology, Increased T cell count, Abnormal lung morphology, Uveitis, Leuk...	ORPHA:797
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti...	ORPHA:81
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath...	OMIM:301078
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatomegaly,...	ORPHA:158061
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Increased circulating IgG level, Tubulointerstitial neph...	ORPHA:449395
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Pulmonary...	OMIM:613990
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Orchitis, Keratitis, Abno...	ORPHA:449563
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic...	OMIM:242860
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Abnormality of the lymphat...	ORPHA:2035
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter...	ORPHA:70578
Hermansky-Pudlak Syndrome 4	Restrictive ventilatory defect, Absent platelet dense granules, Epistaxis, Pulmonary fibrosis	OMIM:614073
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Diabetes mellitus, Neutrophilia, Pneumonia, Cough, Nonproductive cough, Leu...	ORPHA:36238
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Pulmonary fibrosis	ORPHA:220402
Wells Syndrome	Eosinophilia	ORPHA:901
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo...	ORPHA:101096
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i...	OMIM:230800
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Polymyositis	Hepatomegaly, Pericarditis, Abnormal pulmonary interstitial morphology, Respiratory insufficiency...	ORPHA:732
Loeffler Endocarditis	Pericarditis, Eosinophilia, Dyspnea, Cough, Left ventricular hypertrophy	ORPHA:75566
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin ra...	ORPHA:540
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Decreased response to growth hormone stimulation test, Pulmonary fibrosis	ORPHA:457240
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Hypothyroidis...	ORPHA:83471
Sézary Syndrome	Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno...	ORPHA:3162
Microlissencephaly	Pneumonia	ORPHA:1083
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmonary fibrosis,...	OMIM:224230
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne...	ORPHA:37042
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immo...	OMIM:244400
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Abno...	ORPHA:1304
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, P...	ORPHA:60025
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Abnormality of the hypothal...	ORPHA:900
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Neonatal resp...	ORPHA:209905
Idiopathic Achalasia	Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough	ORPHA:930
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti...	OMIM:307200
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes	ORPHA:464370
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc...	OMIM:616433
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash...	ORPHA:572
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis	ORPHA:52047
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni...	ORPHA:289390
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Respiratory i...	ORPHA:355
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Adrenoco...	OMIM:609981
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Dyspnea, Abnor...	ORPHA:35687
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe...	ORPHA:31202
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Hepatomegaly, Apnea, Splenomegaly, Abnormal pulmonary interstit...	OMIM:617050
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Splenomegaly, L...	ORPHA:829
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Female hypogonadism, Sinusitis, ...	OMIM:208900
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Macrocytic anemia, E...	ORPHA:199299
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ...	ORPHA:75564
46,Xx Gonadal Dysgenesis	Streak ovary, Increased circulating gonadotropin level, Decreased serum estradiol, Pulmonary fibr...	ORPHA:243
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory...	OMIM:615505
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro...	OMIM:619381
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Splenomegaly, Abnormal pulmonary in...	ORPHA:77261
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas...	OMIM:612649
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Arthritis, P...	OMIM:617591
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Thrombocytopenia, Cervical lymphad...	ORPHA:50918
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:613808
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple...	ORPHA:2072
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Neoplasm of the thymus, Splenomegaly...	ORPHA:744
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi...	OMIM:615451
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Abno...	ORPHA:221
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc...	ORPHA:514
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Crusting e...	OMIM:170100
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch...	OMIM:615500
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the liver, Mye...	ORPHA:79456
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Nasal polyposis, Abdominal situs ambiguus, Productive cough, Recur...	OMIM:617092
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Pulmonary fibrosis	OMIM:612199
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp...	OMIM:614868
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Skin rash, Autoimmun...	ORPHA:100026
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis	ORPHA:79087
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T...	ORPHA:169090
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja...	ORPHA:39812
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc...	OMIM:616037
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
Al Amyloidosis	Hepatomegaly, Howell-Jolly bodies, Nonproductive cough, Dyspnea, Abnormal pulmonary interstitial ...	ORPHA:85443
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Diffuse Cutaneous Systemic Sclerosis	Dyspnea, Arthritis, Pulmonary fibrosis, Pulmonary arterial hypertension	ORPHA:220393
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Immunodeficiency 58	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti...	OMIM:618131
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Legionnaires Disease	Pericarditis, Abnormal pleura morphology, Splenomegaly, Myocarditis, Abnormal lung morphology, Re...	ORPHA:549
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Incontinentia Pigmenti	Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Keratitis, Leukocytosis, Uveitis, Br...	OMIM:308300
Reactive Arthritis	Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth...	ORPHA:29207
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, ...	OMIM:274000
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Myocarditis, Dyspnea,...	ORPHA:90291
Ciliary Dyskinesia, Primary, 13	Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin...	OMIM:613193
Hermansky-Pudlak Syndrome 1	Epistaxis, Restrictive ventilatory defect, Inflammation of the large intestine, Colitis, Pulmonar...	OMIM:203300
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Overlap Myositis	Diabetes mellitus, Abnormal pulmonary interstitial morphology, Leukopenia, Arthritis, Rheumatoid ...	ORPHA:206572
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ...	OMIM:614935
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,...	OMIM:615444
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Immunodeficiency 77	Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess	OMIM:619223
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr...	OMIM:617091
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukopenia, Restrictive v...	OMIM:305000
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Autoimmune ...	OMIM:614162
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ...	OMIM:614679
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e...	ORPHA:85414
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Dyspnea, Arthritis, Restrictive ventilatory defect, Pulmonary ...	ORPHA:93672
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro...	OMIM:620032
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusiti...	OMIM:604571
Hermansky-Pudlak Syndrome	Dyspnea, Epistaxis, Pulmonary fibrosis, Neutropenia	ORPHA:79430
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg...	ORPHA:171
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect...	OMIM:611884
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci...	OMIM:618801
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Incontinentia Pigmenti	Skin rash, Eosinophilia, Supernumerary nipple, Keratitis, Uveitis, Pulmonary arterial hypertensio...	ORPHA:464
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat...	ORPHA:2552
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Recurrent pharyngit...	ORPHA:2331
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Abnormality of the endoc...	ORPHA:391487
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Asthma...	OMIM:612714
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Ciliary Dyskinesia, Primary, 16	Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot...	OMIM:614017
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ...	ORPHA:158048
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab...	OMIM:618063
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp...	OMIM:607944
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta...	ORPHA:542323
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis...	ORPHA:2137
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow...	ORPHA:293978
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Decreased cir...	OMIM:615688
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Atrophic gastritis, Chilblains, Pneu...	OMIM:615846
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia	OMIM:618253
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi...	OMIM:606763
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Diabetes mellitus, Increased circulating interleukin 6 concentra...	ORPHA:544482
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Decreased lymph...	ORPHA:221139
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo...	ORPHA:662
Tropical Endomyocardial Fibrosis	Orthopnea, Increased circulating interleukin 6 concentration, Hepatomegaly, Eosinophilia, Cardiom...	ORPHA:75565
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Immune-Mediated Necrotizing Myopathy	Myocarditis, Myositis, Skin rash, Abnormal pulmonary interstitial morphology	ORPHA:206569
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A...	ORPHA:2357
Syndromic Diarrhea	Hepatomegaly, Gastritis, Increased mean platelet volume, Hypothyroidism, Splenomegaly, Abnormalit...	ORPHA:84064
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased circulating IgG level, Leukopenia, Abnormal s...	ORPHA:2298
Wild Type Attr Amyloidosis	Hepatomegaly, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary edema	ORPHA:330001
Shigellosis	Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Uveitis, Ulcerative co...	ORPHA:810
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Immunodeficiency 9	Stomatitis, Respiratory insufficiency due to muscle weakness, Hypoplasia of the thymus, Recurrent...	OMIM:612782
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia	OMIM:620326
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, ...	ORPHA:70588
Mirage Syndrome	Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Thrombocytopenia, Leukopenia,...	OMIM:617053
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,...	OMIM:300972
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia	ORPHA:30
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn...	OMIM:230900
Chronic Visceral Acid Sphingomyelinase Deficiency	Respiratory failure requiring assisted ventilation, Decreased serum insulin-like growth factor 1,...	ORPHA:77293
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Cough, Nephritis, Infecti...	ORPHA:73263
Timothy Syndrome	Pneumonia, Bronchitis, Cardiomegaly, Pulmonary arterial hypertension, Hypothyroidism	OMIM:601005
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Wolcott-Rallison Syndrome	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Central hypothyroidism, Iro...	ORPHA:1667
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ...	ORPHA:32960
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Thrombocytopeni...	OMIM:603467
Congenital Tracheomalacia	Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distr...	ORPHA:95430
Farber Disease	Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona...	ORPHA:333
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth hormone stimul...	ORPHA:1855
Cystic Fibrosis	Hepatomegaly, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:219700
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le...	ORPHA:29073
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth...	OMIM:249100
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Glomeruloneph...	ORPHA:340
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Viss Syndrome	Chronic gastritis, Eczema, Dyspnea, Asthma, Increased circulating IgE level, Hypereosinophilia, A...	OMIM:619472
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy	OMIM:253700
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Normochromic ...	ORPHA:247691
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respira...	OMIM:613658
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen...	OMIM:612132
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus,...	OMIM:613177
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy...	ORPHA:567983
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Hypoplasia of the...	OMIM:214110
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti...	ORPHA:354
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo...	ORPHA:98905
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Rectal...	ORPHA:436252
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cryptorchidism, Decreased testicular size	ORPHA:1867
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Hennekam-Beemer Syndrome	Mastocytosis, Pneumonia, Respiratory insufficiency	ORPHA:2135
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Digeorge Syndrome	Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t...	OMIM:188400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Chops Syndrome	Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomal...	OMIM:616368
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly	OMIM:617022
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ...	OMIM:301072
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Episodic tac...	ORPHA:26793
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Cough, Elevated ...	OMIM:619991
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ...	OMIM:253200
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis	ORPHA:3337
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Urinary bladder inflammation, Dyspnea, Pneumothorax, Wheezing, Bronchiec...	ORPHA:99921
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
Plague	Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Splenomegaly, Lymph...	ORPHA:707
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Acne, Impaired T cell function, Abnormality of the tonsils, ...	ORPHA:567
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Adenoiditis, Respiratory tract infection, Splen...	ORPHA:581
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Granuloma, Abnormality of the adrenal...	ORPHA:68
Gm1 Gangliosidosis Type 1	Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Increased circula...	ORPHA:90790
Monosomy 22	Seborrheic dermatitis, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly	ORPHA:309282
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular hypertrophy, Hepatomegaly, Aspiration pneumonia	OMIM:619167
Tay-Sachs Disease	Precocious puberty, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Abnormal lung morphology, Jaun...	ORPHA:646
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly	OMIM:617809
Degcags Syndrome	Hepatomegaly, Pancytopenia, Chronic lung disease, Pneumonia, Congenital hypoplastic anemia, Crypt...	OMIM:619488
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxemia, Rest...	ORPHA:747
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Pulmonary artery ste...	ORPHA:3384
Cornelia De Lange Syndrome 1	Pneumonia, Cryptorchidism, Hypoplastic nipples, Otitis media, Duplication of internal organs, Thr...	OMIM:122470
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Neuroleptic Malignant Syndrome	Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia	ORPHA:94093
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin...	ORPHA:79404
Eec Syndrome	Decreased response to growth hormone stimulation test, Keratitis, Inflammatory abnormality of the...	ORPHA:1896
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure...	ORPHA:95455
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Goodpasture Syndrome	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restr...	OMIM:233450
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration...	ORPHA:1018
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Combined Oxidative Phosphorylation Deficiency 25	Reduced circulating growth hormone concentration, Aspiration pneumonia	OMIM:616430
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Knobloch Syndrome 2	Recurrent respiratory infections, Abnormal pulmonary interstitial morphology	OMIM:618458
Fraser Syndrome 2	Respiratory failure, Hypoplasia of the thymus	OMIM:617666
Treacher-Collins Syndrome	Cryptorchidism, Respiratory insufficiency, Abnormality of the adrenal glands, Hypoplasia of the t...	ORPHA:861
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St...	OMIM:602535
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p...	OMIM:614748
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism...	OMIM:620186
Cholera	Tachypnea, Aspiration pneumonia, Hyperventilation	ORPHA:173
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Hypoplasia of the thymus, Increased ...	OMIM:264090
Coffin-Siris Syndrome	Cryptorchidism, Recurrent upper respiratory tract infections, Papillary thyroid carcinoma, Aspira...	ORPHA:1465
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Breathing dysregulation, Abnormality of the endocrine system, Cryptorchid...	ORPHA:438213
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Asthma, Aspiration pneumonia, Tracheomalac...	ORPHA:444077
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Semilobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:93924
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Otitis media	ORPHA:353281
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Aplasia of the sweat glands, Septic arthritis, Recurrent aspir...	ORPHA:642
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Congenital hypothyroidism, Aspiration pneumonia, Throm...	ORPHA:79500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med...	ORPHA:353277
Kabuki Syndrome 1	Hemolytic anemia, Premature thelarche, Autoimmune thrombocytopenia, Cryptorchidism, Congenital hy...	OMIM:147920
Pmm2-Cdg	Respiratory distress, Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth ho...	ORPHA:79318
Yunis-Varon Syndrome	Absent nipple, Cryptorchidism, Hypoplastic nipples, Aspiration pneumonia, Pulmonary arterial hype...	OMIM:216340

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 Cish

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 Cish.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The Role of Cytokine-Inducible SH2 Domain-Containing Protein (CISH) in the Regulation of Basal and Cytokine-Mediated Myelopoiesis.	International journal of molecular sciences (August 2023)	Cish^{tm1a(KOMP)Wtsi}	PMC10454631
Hepatic cytokine-inducible SH2-containing protein (CISH) regulates gluconeogenesis via cAMP-responsive element binding protein (CREB).	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (October 2022)	Cish^{tm1c(KOMP)Wtsi}	36083102
Cytokine-inducible SH2 domain containing protein contributes to regulation of adiposity, food intake, and glucose metabolism.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (May 2022)	Cish^{tm1a(KOMP)Wtsi}	35470501
CISH constrains the tuft-ILC2 circuit to set epithelial and immune tone.	Mucosal immunology (July 2021)	Cish^{tm1a(KOMP)Wtsi}	34290377
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cish^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cish^{tm1a(KOMP)Wtsi}	PMC6459510

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
Cish^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cish^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cish^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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