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Gene: Dusp1 MGI:105120

Gene Summary

Name:

dual specificity phosphatase 1

Synonyms:

3CH134, erp, mkp-1, Ptpn16, MKP1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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	Allele	Zyg	Life Stage	P Value
decreased body weight	Dusp1^{tm1(KOMP)Wtsi}	HOM	Early adult	1.34×10^-05
increased circulating magnesium level	Dusp1^{tm1(KOMP)Wtsi}	HOM	Early adult	6.47×10^-05
decreased total body fat amount	Dusp1^{tm1(KOMP)Wtsi}	HOM	Early adult	2.90×10^-05
thrombocytosis	Dusp1^{tm1(KOMP)Wtsi}	HOM	Early adult	8.50×10^-05

Download data as: TSV XLS

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

Dusp1^{tm1(KOMP)Wtsi}
forearm, WT, Male, WTSI

Dusp1^{tm1(KOMP)Wtsi}
body, WT, Male, WTSI

Dusp1^{tm1(KOMP)Wtsi}
head, WT, Female, WTSI

Dusp1^{tm1(KOMP)Wtsi}
forearm, WT, Female, WTSI

Dusp1^{tm1(KOMP)Wtsi}
body, WT, Male, WTSI

View all 128 images

Dusp1^{tm1(KOMP)Wtsi}
back skin, WT, Female, WTSI

Dusp1^{tm1(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Dusp1^{tm1(KOMP)Wtsi}
back skin, WT, Female, WTSI

Dusp1^{tm1(KOMP)Wtsi}
abnormal epidermal pigmentation, HOM, Female, WTSI

Human diseases caused by Dusp1 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 Dusp1 (0 diseases)
Human diseases predicted to be associated with Dusp1 (1210 diseases)

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

The table below shows human diseases predicted to be associated to Dusp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated...	OMIM:614372
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent...	OMIM:616022
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ...	OMIM:613495
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu...	OMIM:613501
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Hypotension, Abnormal circulating interleukin concentration, Abnormality o...	ORPHA:70578
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Recurrent u...	OMIM:617585
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Brad...	ORPHA:70587
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,...	OMIM:613494
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Fever, Recurrent bacterial skin infections	ORPHA:183713
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re...	ORPHA:319552
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Abnormal circulating interleukin concentration, Increased circulating interferon-gam...	ORPHA:542323
Immunodeficiency 61	Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent...	OMIM:300310
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Immunodeficiency 116	Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu...	OMIM:608957
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Pneumocystis carinii pneumonia, Abnormal T cell count...	OMIM:312863
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogamma...	OMIM:269840
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Pulmonary Blastoma	Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma	ORPHA:64741
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl...	OMIM:601457
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Elevated pulmonary artery pressure, Edema	OMIM:178400
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent...	OMIM:607594
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Ascites,...	ORPHA:57777
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Pulmonary ed...	ORPHA:66529
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
Immunodeficiency 32B	Pneumonia, Recurrent infections, Neutrophilia, Failure to thrive, BCGitis, Impaired oxidative bur...	OMIM:226990
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Multiple lipomas, Chondrocalcinosis, Hypercalcemia	OMIM:145981
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir...	OMIM:300400
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti...	OMIM:613860
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ...	OMIM:243700
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti...	OMIM:618459
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cellulitis, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee ...	OMIM:604416
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch...	OMIM:614868
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure...	OMIM:617514
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c...	OMIM:209920
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Panhypo...	OMIM:601495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ...	ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent infections, Hepatitis,...	ORPHA:169160
Primary Erythromelalgia	Leukemia, Hypothermia	ORPHA:90026
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Preeclampsia	Elevated systolic blood pressure, Elevated diastolic blood pressure, Elevated circulating creatin...	ORPHA:275555
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio...	OMIM:616873
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec...	ORPHA:2688
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Reticular Dysgenesis	Sepsis, Abnormality of neutrophils, Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia...	ORPHA:33355
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Edema, Atelectasis	OMIM:267450
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis med...	OMIM:240500
Systemic Capillary Leak Syndrome	Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Pancreatitis, Myocarditis, Pedal edem...	ORPHA:188
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Periphe...	ORPHA:75249
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,...	OMIM:608106
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida...	ORPHA:217390
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell...	OMIM:618806
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e...	ORPHA:199241
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint...	OMIM:608184
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Molluscum c...	OMIM:618982
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Abnorm...	ORPHA:178320
Complement Factor B Deficiency	Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis	OMIM:615561
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV...	OMIM:619437
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased c...	OMIM:607271
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss, Bronchitis	ORPHA:930
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:911
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Seborrh...	OMIM:619693
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Decreased circulating IgA level, Neutropenia, Recurrent bacteria...	OMIM:606843
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Shock, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Elevat...	ORPHA:36238
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus...	OMIM:601954
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, T lymphocytopenia, Anemia, Thrombocytopenia, B lymphocyt...	ORPHA:169079
High Altitude Pulmonary Edema	Pulmonary edema, Tachycardia, Hypoxemia, Cyanosis	ORPHA:330012
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane...	OMIM:209950
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,...	OMIM:618944
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia, Recurrent bacterial i...	OMIM:300299
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Nemaline Myopathy 2	Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Dysphagia, M...	OMIM:256030
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypophosphatemia, Hypercalcemia	OMIM:600740
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Asc...	OMIM:261740
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic inf...	ORPHA:83471
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent mycobacterial inf...	ORPHA:98813
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I...	OMIM:607676
Immunodeficiency 12	Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s...	OMIM:615468
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr...	OMIM:115197
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F...	OMIM:618848
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative...	OMIM:613779
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Lymphopenia, Hepatos...	ORPHA:331206
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Abnormality of neutrophils, Failure to thrive, Abnormal lymphocyte morphology,...	ORPHA:229717
Immunodeficiency 18	Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac...	OMIM:618108
Adult-Onset Nemaline Myopathy	Nemaline bodies, Increased variability in muscle fiber diameter, Neuromuscular dysphagia, Upper l...	ORPHA:171442
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas...	OMIM:613845
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Cachexia, Ac...	ORPHA:60033
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Irritability, Increased ...	ORPHA:238329
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Hyponatremia, Recurrent respiratory infections, Hyperkalemia, Dehydration	OMIM:264350
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Panhypogammaglobulinemia, Rec...	OMIM:307200
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Periodontitis, Aplastic anemia, Leukemia, Lymphopenia, Rec...	ORPHA:486
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level	OMIM:620125
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cel...	OMIM:615214
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Immunodeficiency 56	Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Failure to thrive, P...	OMIM:615207
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart...	ORPHA:85435
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, General...	ORPHA:171439
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Cardiogenic Shock	Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea...	ORPHA:97292
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media, Recurrent Haemophilus influen...	OMIM:300455
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Lipoma, Hypocalcemic seizures, Hyperc...	ORPHA:405
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Drug-Induced Lupus Erythematosus	Pericardial effusion, Malar rash, Elevated circulating creatine kinase concentration, Increased b...	ORPHA:231111
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Eleva...	OMIM:614399
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level	OMIM:203400
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Superficial d...	OMIM:620632
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Atrophic scars, Myopathy, Elevated circulating cr...	OMIM:616471
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s...	ORPHA:79083
Nipah Virus Disease	Recurrent pharyngitis, Hypotension, Infectious encephalitis	ORPHA:99825
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Failure to t...	OMIM:613752
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Fever, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granul...	OMIM:608898
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Pneumoc...	OMIM:614069
Pgm3-Cdg	Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ...	ORPHA:443811
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections, Monocytopenia, Neutropenia	ORPHA:86788
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex...	ORPHA:98848
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Hypocalcemia, Cyanosis, Pulmonary edema, Gastritis,...	ORPHA:31826
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia...	ORPHA:340
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i...	ORPHA:436159
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis m...	OMIM:618495
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp...	OMIM:614172
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Increased circulating IgE level, Hepatosplenomegaly, Psoriasiform der...	OMIM:606367
Bacterial Toxic-Shock Syndrome	Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Elevated circulating creatinin...	ORPHA:36234
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Fetal ascites, Hepatitis, Cardiomyopathy, Pleural effusion, Skin ra...	ORPHA:292
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Brain abscess, Severe ...	ORPHA:544482
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ...	OMIM:145600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253601
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Felty Syndrome	Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Chronic otitis media, Abnormal lympho...	ORPHA:47612
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Insulin resistance, Hepatic steatosis, Myopathy, Splenomegaly, Lipodystrophy, Pancrea...	ORPHA:2348
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Spontaneous Periodic Hypothermia	Hypothermia, Skin rash	ORPHA:29822
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:609
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Elevated...	OMIM:600969
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Early-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Dehydration, Increased circulat...	ORPHA:556030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Sepsis, Hepatitis, Failure to thrive, Osteomyeliti...	ORPHA:47
Pneumocystosis	Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Increased circulati...	ORPHA:723
Myopathy, Sarcoplasmic Body	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620286
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Ovarian Hyperstimulation Syndrome	Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ...	ORPHA:64739
Omenn Syndrome	Pneumonia, Severe B lymphocytopenia, Recurrent viral infections, Failure to thrive, Splenomegaly,...	OMIM:603554
Riboflavin Deficiency	Hypothermia	OMIM:615026
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating IgE level...	OMIM:102700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Absence Of The Pulmonary Artery	Recurrent pneumonia, Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventric...	ORPHA:980
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged QRS complex, Ischemic...	ORPHA:90068
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Abnormal c...	OMIM:618048
Hypomagnesemia 2, Renal	Hypokalemia, Chondrocalcinosis, Hypomagnesemia	OMIM:154020
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low...	OMIM:308230
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Neonatal Alloimmune Neutropenia	Pneumonia, Sepsis, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Mening...	ORPHA:464370
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri...	OMIM:300696
Interstitial Granulomatous Dermatitis With Arthritis	Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Inflammatory abnorma...	ORPHA:79099
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Immunodeficiency 108 With Autoinflammation	Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei, Recurrent fever, Impaired n...	OMIM:260570
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Angioedema, Cerebral ischemia, Hyponatremia, Tachycard...	ORPHA:449285
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media, Absent neutrophil specifi...	OMIM:617475
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end...	OMIM:619473
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurrent respiratory ...	OMIM:619126
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level	OMIM:177735
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous ab...	OMIM:618282
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-...	OMIM:615424
Myasthenic Syndrome, Congenital, 14	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:616228
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:619733
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly	OMIM:610539
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Autosomal Agammaglobulinemia	Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Failure to thrive, Osteomyelitis, Skin r...	ORPHA:33110
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:618940
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Recurrent infections due to aspiration, Increased ...	OMIM:223900
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Hypotension, Hypertension, Reduced circulating cortisol-binding globulin concentration	OMIM:611489
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Recurrent pne...	OMIM:620249
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Hyperammonemi...	OMIM:620300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:620402
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Mercury Poisoning	Hypotension, Interstitial pneumonitis, Hypokalemia, Tachycardia, Hypertension	ORPHA:330021
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233710
Immunodeficiency 23	Allergic rhinitis, Recurrent staphylococcal infections, Eczematoid dermatitis, Chronic mucocutane...	OMIM:615816
Late-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ...	ORPHA:79126
Dengue Fever	Epistaxis, Hypotension, Gastrointestinal hemorrhage, Ascites, Skin rash, Cerebral hemorrhage, Hyp...	ORPHA:99828
Bronchiolitis Obliterans	Pneumonia, Bronchiectasis, Respiratory tract infection, Bronchiolitis obliterans, Hypoxemia	ORPHA:1303
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Extractable nuclear antigen positivity, C...	OMIM:620321
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin...	OMIM:212138
Immunodeficiency 27B	Osteomyelitis, Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurr...	OMIM:615978
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Eleva...	OMIM:160565
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Mantle Cell Lymphoma	Weight loss, Splenomegaly	ORPHA:52416
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Elevated circulating carcinoembryonic antigen concentration, Abnormal circu...	ORPHA:264675
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy...	ORPHA:1878
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly	OMIM:608776
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re...	OMIM:300718
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Legionnaires Disease	Hypotension, Hepatitis, Abnormal pleura morphology, Infectious encephalitis, Hyponatremia, Arrhyt...	ORPHA:549
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Cutaneous Mastocytoma	Hypotension, Telangiectasia macularis eruptiva perstans, Angioedema, Telangiectasia of the skin, ...	ORPHA:79455
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia	OMIM:175500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Scedosporiosis	Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Bronchitis, Invasive fungal inf...	ORPHA:449280
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co...	ORPHA:159
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis	ORPHA:1164
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seps...	ORPHA:51636
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ...	OMIM:620542
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty...	OMIM:619042
Hellp Syndrome	Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Cerebral ...	ORPHA:244242
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac...	OMIM:605637
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I...	ORPHA:85410
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233690
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Failure to ...	OMIM:600802
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Coombs-positive hemolytic anemia, Thrombocytosis, E...	OMIM:614034
Renal Tubular Dysgenesis	Hypotension, Oligohydramnios, Pulmonary hypoplasia	OMIM:267430
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to t...	OMIM:613179
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, ST segment de...	ORPHA:466677
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phospholipid accumul...	OMIM:620565
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective...	ORPHA:353
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Amyloidosis, Hereditary Systemic 1	Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy	OMIM:105210
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, P...	ORPHA:2032
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Hypotension, Tachycardia, Stomatitis	ORPHA:79155
Bronchial Neuroendocrine Tumor	Pneumonia, Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Pa...	ORPHA:97287
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Squalene Synthase Deficiency	Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra...	OMIM:618156
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Abnormal EKG, Elevated circulating creatinine concentration, Syncope, Increa...	ORPHA:230
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Potocki-Lupski Syndrome	Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hyperactivity, Motor stereotyp...	OMIM:610883
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split...	OMIM:253700
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Anemia	ORPHA:100024
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic ...	OMIM:212065
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ...	ORPHA:169090
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Sarcoidosis, Susceptibility To, 2	Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Pulmonary arterial hypertension, Erythema n...	OMIM:612387
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Rhabdomyolysis, Susceptibility To, 1	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:620235
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Maternal Uniparental Disomy Of Chromosome 4	Limb-girdle muscular dystrophy, Type I diabetes mellitus, Depression, Hypocholesterolemia, Dysmet...	ORPHA:96180
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs...	OMIM:619374
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Increased...	ORPHA:3392
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont...	ORPHA:536516
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Ataxia,...	OMIM:266510
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
Rigid Spine Syndrome	Pneumonia, Cardiac conduction abnormality	ORPHA:97244
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Microlissencephaly	Pneumonia	ORPHA:1083
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Abnor...	ORPHA:133
Gitelman Syndrome	Hypermagnesemia, Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia,...	ORPHA:358
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased body weight, Recurrent infections, Bronchiectasis, Decreased proportion of CD4-positive...	ORPHA:477814
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Reduced circulating alpha-1-antitrypsin concentration, Panacinar emphysema, Chron...	OMIM:613490
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Idiopathic Congenital Hypothyroidism	Hypothermia	ORPHA:95717
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia	OMIM:614654
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	ORPHA:75840
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity, Crescenti...	OMIM:616414
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Bronchiol...	OMIM:300755
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypotension, Recurrent otitis ...	ORPHA:293978
Whipple Disease	Uveitis, Gastrointestinal hemorrhage, Hypotension, Infectious encephalitis, Hyponatremia, Myositi...	ORPHA:3452
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Skin rash, Joint swelling, Arthritis, Elevated circulating C-reactive protein conce...	ORPHA:85414
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye...	ORPHA:1163
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Hypomagnesemia, Congestive heart failure, Hypocalcemic tetany, Hypocalcem...	ORPHA:73224
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren...	OMIM:614878
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Mogs-Cdg	Decreased circulating IgG level, Generalized edema, Decreased circulating IgA level, Polyhydramni...	ORPHA:79330
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Relapsing Fever	Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,...	ORPHA:91547
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Congenital Isolated Acth Deficiency	Hyponatremia, Hypotension, Hepatitis	ORPHA:199296
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Depression, Skeletal muscle atrophy, Mildly eleva...	OMIM:258450
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre...	OMIM:611615
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese...	ORPHA:231154
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Infant Botulism	Hypotension, Xerostomia, Hyponatremia, Keratoconjunctivitis sicca, Cardiac arrest, Hypertension, ...	ORPHA:178478
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Necrotizing Enterocolitis	Hypotension, Shock, Ascites, Cyanosis, Hyponatremia, Peritonitis, Bradycardia, Edema	ORPHA:391673
Colchicine Poisoning	Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Hypokalem...	ORPHA:31824
Cholera	Hypovolemic shock, Hypotension, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponatremia, Ab...	ORPHA:173
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Increased blood urea...	OMIM:614817
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Dehydration, Hypomagnese...	ORPHA:94093
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:306400
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Celiac Disease, Susceptibility To, 1	Failure to thrive, Hypocalcemia, Macrocytic anemia, Weight loss, Iron deficiency anemia, Enamel h...	OMIM:212750
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Elevated circulating C-reactive protein concentration...	OMIM:615934
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform	OMIM:302045
Lujo Hemorrhagic Fever	Facial edema, Periorbital edema, Hypotension, Generalized edema, Atelectasis, Shock, Skin rash, M...	ORPHA:319213
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev...	OMIM:613204
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:619790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev...	OMIM:608807
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Myopathy, Cirrhosis, Ataxia, Hepatomegal...	ORPHA:14
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Rec...	OMIM:612840
Kenny-Caffey Syndrome, Type 1	Anemia, Hypocalcemia, Hypomagnesemia	OMIM:244460
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen	OMIM:612926
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:117000
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen	OMIM:612924
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory...	OMIM:610910
Rheumatoid Arthritis	Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo...	OMIM:180300
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Recurrent pharyngitis	ORPHA:42642
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Facial pals...	OMIM:300580
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmona...	ORPHA:70589
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen...	ORPHA:79127
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level,...	OMIM:242860
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Pleural effus...	ORPHA:2902
Meningococcal Meningitis	Hypotension, Shock, Skin rash, Infectious encephalitis, Elevated circulating C-reactive protein c...	ORPHA:33475
Orthostatic Hypotension 1	Hypomagnesemia, Orthostatic hypotension, Increased blood urea nitrogen, Elevated circulating dihy...	OMIM:223360
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen...	OMIM:616834
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Increased variability in muscle fiber diameter, Increased intramyoc...	OMIM:619065
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre...	OMIM:151800
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Recurrent gram-neg...	OMIM:116920
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction...	OMIM:617228
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia	OMIM:226300
Perry Syndrome	Hypotension	ORPHA:178509
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Failure to thrive, Type 1 fibers relatively smaller t...	OMIM:255310
Obesity	Decreased resting energy expenditure, Obesity, Increased waist to hip ratio	OMIM:601665
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Complement Factor I Deficiency	Recurrent meningitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis,...	OMIM:610984
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen	OMIM:612925
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,...	ORPHA:411703
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis	OMIM:619466
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu...	OMIM:254090
Neurodevelopmental Disorder With Language Delay And Seizures	Hypomagnesemia	OMIM:619908
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Increased connecti...	OMIM:226670
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:620246
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, H...	ORPHA:52430
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Melioidosis	Pneumonia, Unusual skin infection, Sepsis, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Paro...	ORPHA:31202
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Recurrent cutaneous abscess formation, Chr...	OMIM:618131
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Acute Radiation Syndrome	Telangiectasia, Hypotension, Inflammatory abnormality of the skin, Interstitial pneumonitis	ORPHA:454831
Common Variable Immunodeficiency	Pneumonia, Recurrent respiratory infections, Emphysema, Lymphopenia, Failure to thrive in infancy...	ORPHA:1572
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617066
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Fa...	ORPHA:79324
Familial Hypoaldosteronism	Hypotension, Increased circulating renin level, Hyponatremia, Orthostatic hypotension, Hyperkalem...	ORPHA:427
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Decreased specific antibody response to polysac...	OMIM:241600
Papa Syndrome	Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula...	ORPHA:69126
Sepsis In Premature Infants	Hypotension, Increased circulating interleukin 6 concentration, Cyanosis, Enterocolitis, Bradycar...	ORPHA:90051
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Skin rash, Arthritis, Erythema nodosum, Elevated circulating C-rea...	OMIM:611762
Follicular Lymphoma	Meningitis, Weight loss, Pleural effusion, Splenomegaly	ORPHA:545
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Beta-Ketothiolase Deficiency	Hypotension, Dehydration, Hyperammonemia, Hyperuricemia, Hypertension, Edema	ORPHA:134
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large ...	ORPHA:49041
Immunodeficiency 65, Susceptibility To Viral Infections	Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis	OMIM:618648
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Intersti...	OMIM:615952
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis	OMIM:300991
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ...	ORPHA:70588
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co...	ORPHA:3226
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Fanconi Renotubular Syndrome 5	Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Hypophosphatemia, Pulmonary fibrosis, H...	OMIM:618913
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Otitis media, Recurrent sinusitis	OMIM:618781
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas...	OMIM:243150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Tubulointerstiti...	OMIM:174000
Optic Atrophy 11	Increased variability in muscle fiber diameter, Stereotypical body rocking, Facial diplegia, Sple...	OMIM:617302
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Depression, Difficulty walking...	OMIM:617675
Scrub Typhus	Hypotension, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis	ORPHA:83317
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, S...	ORPHA:98905
Pyomyositis	Sepsis, Leukocytosis, Myositis, Weight loss, Recurrent infections, Recurrent cutaneous abscess fo...	ORPHA:764
Timothy Syndrome	Pneumonia, Hypothermia	OMIM:601005
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Diffi...	ORPHA:401768
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Hepatitis, Congestive heart failure, Pleural effusion, Elev...	ORPHA:454836
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypothermia	OMIM:245400
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Hypothermia	OMIM:614498
Japanese Encephalitis	Increased circulating antibody level, Hyponatremia, Pulmonary edema, Infectious encephalitis, Cer...	ORPHA:79139
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Elevated circulating creatine kinase concentration	ORPHA:90117
Chromosome 5Q12 Deletion Syndrome	Hypotension, Increased nuchal translucency	OMIM:615668
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Acute Adrenal Insufficiency	Hypotension, Recurrent acute respiratory tract infection, Hyperuricemia, Hyponatremia, Hypovolemi...	ORPHA:95409
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617072
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615482
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Unusual CNS infection, Granuloma, Osteomyeli...	ORPHA:228119
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Omenn Syndrome	Pneumonia, Sepsis, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly,...	ORPHA:39041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618992
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb...	ORPHA:238459
Diffuse Cutaneous Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Erythroderma, Peau d'orange	ORPHA:79456
Immunodeficiency 77	Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuberculous mycobacterial pulmonary ...	OMIM:619223
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Depression, Dysdiadochokinesis, Difficulty walkin...	ORPHA:502423
Poems Syndrome	Polycythemia, Splenomegaly, Lipodystrophy, Weight loss, Thrombocytosis	ORPHA:2905
Complement Component 5 Deficiency	Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
Hereditary Angioedema Type 1	Facial edema, Hypotension, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, Intestina...	ORPHA:100050
Pleural Mesothelioma	Abnormal lung morphology, Abnormal pleura morphology, Weight loss, Pleural effusion	ORPHA:50251
Ciliary Dyskinesia, Primary, 16	Chronic sinusitis, Chronic rhinitis, Pulmonary insufficiency, Chronic otitis media, Bronchiectasis	OMIM:614017
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L...	ORPHA:139402
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,...	OMIM:616867
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, Conjunctivitis, Uveitis	OMIM:120100
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Inability to walk, Gait ataxia, Enamel hypoplasia...	OMIM:617915
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Increased proportion of CD25+ mast cells, Pancytopenia, Hypersplenism, Leukoc...	ORPHA:98850
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis	OMIM:613021
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Athetosis, Dysphagia, Impaired oral bolus formation	OMIM:617235
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Failure to thrive,...	OMIM:222470
Truncus Arteriosus	Aortic regurgitation, Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous or...	ORPHA:3384
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Recurrent pneumonia, Abnormality of temperature regulation, Hypothermia	OMIM:618493
Congenital Disorder Of Glycosylation, Type Iif	Pulmonary hemorrhage, Thrombocytopenia, Neutropenia, Recurrent bacterial infections, Macrothrombo...	OMIM:603585
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Anemia	ORPHA:20
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis	ORPHA:251004
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis	ORPHA:729
Asbestos Intoxication	Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ...	ORPHA:2302
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal...	ORPHA:77297
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo...	ORPHA:171436
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea...	OMIM:235400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Weight loss, Neutrophilia, Anemia, Abnormal lung morphology, Liver abscess	ORPHA:54251
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Recurrent lower respiratory tract infections, Otiti...	OMIM:612541
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Broad...	OMIM:607459
Congenital Myopathy 12	Joint contracture of the hand, Abnormal circulating creatine kinase concentration, Akinesia, Camp...	OMIM:612540
Immunodeficiency 31C	Recurrent infections, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis, Ly...	OMIM:614162
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl...	ORPHA:2593
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	ORPHA:35708
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Erythema nodosum, Tachycardia, Epididymitis, Diffuse alveolar hemorrhage, Bund...	ORPHA:99827
Congenital Myopathy 15	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac...	OMIM:620161
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Hypobetalipoproteinemia, Familial, 1	Ataxia, Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Hyper...	OMIM:615558
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Pedal edema, Systolic heart murmur, Right ventricular failure, ...	ORPHA:99103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Pneumonia, Inability to walk, Weakness of facial musc...	ORPHA:596
Galactose Epimerase Deficiency	Weight loss, Splenomegaly	ORPHA:79238
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Ogden Syndrome	Peripheral pulmonary artery stenosis, Eczematoid dermatitis, Lymphedema, Recurrent otitis media, ...	OMIM:300855
Interstitial Lung And Liver Disease	Anemia, Hyperammonemia, Failure to thrive, Thrombocytosis	OMIM:615486
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Menkes Disease	Hypothermia	OMIM:309400
Marburg Hemorrhagic Fever	Increased circulating antibody level, Tachycardia, Shock, Elevated circulating creatinine concent...	ORPHA:99826
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia	ORPHA:226313
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,...	OMIM:266600
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ...	ORPHA:35078
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Atr...	ORPHA:26793
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Arthrogryposis multipl...	OMIM:619334
Neuroendocrine Tumor Of The Colon	Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta...	ORPHA:100080
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Bloom Syndrome	Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemi...	ORPHA:125
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Recurrent respiratory infections, Bronchiectasis	OMIM:619468
Familial Thyroid Dyshormonogenesis	Hypothermia	ORPHA:95716
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating...	ORPHA:48435
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa...	OMIM:301220
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Mania, Hypoproteinemia, ...	ORPHA:247585
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Hemochromatosis, Type 3	Elevated transferrin saturation, Increased circulating iron concentration, Arthritis, Increased c...	OMIM:604250
Glycogen Storage Disease Vii	Increased variability in muscle fiber diameter, Cholelithiasis, Increased total bilirubin, Gout, ...	OMIM:232800
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Fever, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic ly...	ORPHA:98849
Bartter Syndrome, Type 3	Hypotension, Hyperchloriduria, Hypokalemia, Dehydration, Increased circulating renin level	OMIM:607364
Spinocerebellar Ataxia Type 27	Depression, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Gait dis...	ORPHA:98764
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Failure to thrive in infancy, Increased variability in muscle fiber diameter, Flexion contracture	OMIM:619026
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612649
Late-Onset Isolated Acth Deficiency	Hypotension, Hepatitis, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Orthostatic hypotensi...	ORPHA:199299
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R...	ORPHA:221139
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Chronic Hiccup	Weight loss	ORPHA:396
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci...	ORPHA:100082
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Obesity, Weight loss, Transient hypophosphatemia, Hyperkale...	ORPHA:79102
Aceruloplasminemia	Ataxia, Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circula...	ORPHA:48818
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:615481
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, E...	ORPHA:119
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Liver Disease, Severe Congenital	Pneumonia, Eczematoid dermatitis, Increased circulating ferritin concentration, Recurrent otitis ...	OMIM:619991
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Cystic Echinococcosis	Unusual infection, Pulmonary cyst, Peritoneal abscess, Invasive parasitic infection, Abscess, Spl...	ORPHA:400
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Gait disturbance, Myopathy, Ataxia	OMIM:125250
Gitelman Syndrome	Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Hypokalemia, Increased circulating renin level	OMIM:263800
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary s...	ORPHA:244
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Transient ischemic attack, Increased blood urea ni...	OMIM:274150
Manganese Poisoning	Depression, Inappropriate laughter, Akinesia, Emotional lability, Irritability, Aggressive behavi...	ORPHA:306682
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Hypothermia, Normochromic anemia	OMIM:618775
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Combined Oxidative Phosphorylation Deficiency 51	Small for gestational age, Aspiration pneumonia	OMIM:619057
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Hennekam-Beemer Syndrome	Pneumonia, Hypotension, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation...	ORPHA:99104
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Inguinal hernia, Hypoplasia of the thymus, Thrombocytosis, Abnormality...	ORPHA:84064
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c...	ORPHA:449400
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Leukocytosis, Eosinophilia, Weight loss, Anemia	ORPHA:2070
Mirage Syndrome	Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia, Leukopenia, Decrea...	OMIM:617053
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Autosomal Dominant Hypocalcemia	Hypotension, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Congestive heart failure, ...	ORPHA:428
Bartter Syndrome, Type 1, Antenatal	Chondrocalcinosis, Hyperchloriduria, Failure to thrive, Increased serum prostaglandin E2, Hypomag...	OMIM:601678
Isaacs Syndrome	Weight loss	ORPHA:84142
Bullous Pemphigoid	Recurrent infections, Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
N-Acetylglutamate Synthase Deficiency	Hypothermia	OMIM:237310
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Good Syndrome	Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morphology, Thr...	ORPHA:169105
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Failure to thrive, Subpleura...	ORPHA:79128
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:616481
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ...	ORPHA:811
Q Fever	Pneumonia, Unusual infection, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural ef...	ORPHA:781
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Pearson Syndrome	Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hypokalemia, Hypophosp...	ORPHA:699
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Elevated c...	OMIM:615688
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Bartter Syndrome Type 4	Failure to thrive, Hypomagnesemia, Increased circulating renin level, Hypokalemia, Severe failure...	ORPHA:89938
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia	OMIM:618810
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi...	ORPHA:3077
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Leptospirosis	Uveitis, Hypotension, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Optic neuriti...	ORPHA:509
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Splenomegaly	ORPHA:86893
Vexas Syndrome	Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Nasal cho...	OMIM:301054
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level	ORPHA:90791
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Hyperphenylalaninemia, Abnormal circulating neopter...	ORPHA:1578
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Failure to thrive, Fasciitis, ...	ORPHA:39812
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Bronchitis, Hepatitis, Emphysema, Pannicul...	ORPHA:60
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta, Abnormal circulating calcium concentration, Hypomagnesemia	OMIM:248190
Polymyositis	Chondrocalcinosis, Abnormal muscle fiber morphology, Elevated circulating creatine kinase concent...	ORPHA:732
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Aa Amyloidosis	Hypotension	ORPHA:85445
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Portal hypertension	OMIM:210050
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:324964
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat...	ORPHA:397744
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Bron...	ORPHA:420741
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis	OMIM:617092
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Autoimmune Hepatitis	Antineutrophil antibody positivity, Inflammation of the large intestine, Increased total bilirubi...	ORPHA:2137
Gaucher Disease, Perinatal Lethal	Hepatic failure, Hepatosplenomegaly, Akinesia, Splenomegaly, Decreased body weight, Dysphagia, He...	OMIM:608013
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis	OMIM:613193
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Severe cytomegalovir...	OMIM:300291
Perry Syndrome	Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Disinhibition, Weight...	OMIM:168605
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Hypocomplementemic Urticarial Vasculitis	Emphysema, Episcleritis, Pleural effusion, Skin rash, Recurrent bacterial infections, Splenomegal...	ORPHA:36412
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Reduced blood ...	OMIM:300539
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Elevated circulating aspartate...	OMIM:615595
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent...	ORPHA:17
Cinca Syndrome	Patellar overgrowth, Skin rash, Arthritis, Elevated circulating C-reactive protein concentration,...	OMIM:607115
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Weight loss, Gl...	ORPHA:99867
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:611884
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe...	OMIM:618699
Rat-Bite Fever	Sepsis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Anemia, Oli...	ORPHA:31205
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Dpagt1-Cdg	Elevated circulating hepatic transaminase concentration, Head-banging, Failure to thrive, Inabili...	ORPHA:86309
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Pancytopenia, Chronic infection, Leukopenia, Leukocytosis, Weight lo...	ORPHA:520
Kaposi Sarcoma	Abnormality of the spleen, Skin rash, Weight loss, Abnormal lung morphology, Recurrent herpes	ORPHA:33276
Congenital Myopathy 9A	Akinesia, Obesity, EMG: myopathic abnormalities	OMIM:618822
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis	OMIM:617091
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Difficulty walking, Limb m...	ORPHA:100924
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Polyhydramnios, Recurrent aspiration pneumonia	OMIM:619971
Inflammatory Pseudotumor Of The Liver	Weight loss, Increased hepatitis B virus antibody level	ORPHA:90003
Mulibrey Nanism	Cachexia	ORPHA:2576
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Polyarticu...	ORPHA:85436
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss...	OMIM:617321
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res...	OMIM:613808
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Distal lower lim...	ORPHA:240094
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Chondrocalcinosis, Failure to thrive, Increased serum prostaglandin E2, Hypomag...	OMIM:241200
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Depression, Akinesia, Agitation, Low frustration tolerance, Weight loss, Hypomimi...	ORPHA:411602
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyelitis, Pustule, W...	ORPHA:171876
Adult-Onset Still Disease	Neutrophilia, Hepatitis, Interstitial pneumonitis, Skin rash, Leukocytosis, Splenomegaly, Anemia,...	ORPHA:829
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Cockayne Syndrome Type 1	Conjunctivitis, Hypertension, Increased blood urea nitrogen, Uveitis	ORPHA:90321
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Leukocytosis, Failure to thrive, Thrombocytosis	OMIM:618213
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Weight loss, Recurrent sk...	OMIM:619381
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Edema, Palpitation...	ORPHA:100078
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Pde4D Haploinsufficiency Syndrome	Hypotension	ORPHA:439822
Cryptogenic Organizing Pneumonia	Pneumothorax, Leukocytosis, Weight loss, Neutrophilia	ORPHA:1302
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:614935
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Heart murmur, Acrocyanosis	ORPHA:1867
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ...	OMIM:613807
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612650
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb...	OMIM:619461
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Leg muscle stiffness, Inability to walk, Akinesia, ...	ORPHA:391411
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Hirschsprung Disease	Failure to thrive in infancy, Sepsis, Weight loss	ORPHA:388
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Gastrointestinal hemorrhage, Macular edema, Cardiomyopathy, Elevated circulating creat...	ORPHA:247691
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo...	ORPHA:466650
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy	OMIM:616816
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Neuroendocrine Tumor Of Stomach	Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,...	ORPHA:100075
Overlap Myositis	Rheumatoid arthritis, Abnormal circulating lipid concentration, Systemic lupus erythematosus, Sub...	ORPHA:206572
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Ciliary Dyskinesia, Primary, 51	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:620438
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Increased variability in muscle fiber diameter, Increased serum pyruvate, Myopathy	OMIM:604377
Nocardiosis	Lymphadenitis, Scleritis, Weight loss, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous...	ORPHA:31204
Diffuse Alveolar Hemorrhage	Leukocytosis, Weight loss, Irregular septal thickening on pulmonary HRCT, Thrombocytopenia, Anemi...	ORPHA:90060
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Hypomethioninemia, Pulmonary arterial hypertension, Hyperhomocysti...	OMIM:277400
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Dec...	ORPHA:90363
Psoriasis 14, Pustular	Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Elevated circulating C...	OMIM:614204
Poliomyelitis	Hypovolemic shock, Hypotension, Myelitis, Infectious encephalitis, Hypertension	ORPHA:2912
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto...	ORPHA:167
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypertrophic cardiomyopathy, Mitral regurgitation, Hyperammonemia, Pulmonary edema, Hypertension	OMIM:220111
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Familial Glucocorticoid Deficiency	Hyponatremia, Hypotension, Hyperkalemia, Hypertrophic cardiomyopathy	ORPHA:361
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Kufor-Rakeb Syndrome	Leg muscle stiffness, Akinesia, Aggressive behavior, Gait disturbance, Torticollis, Ataxia, Dysph...	OMIM:606693
Idiopathic Hypereosinophilic Syndrome	Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ...	ORPHA:3260
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Hypercapnia, Distal amyotrophy, ...	OMIM:164310
Amoebiasis Due To Entamoeba Histolytica	Pleural effusion, Leukocytosis, Constrictive pericarditis, Weight loss, Lung abscess, Anemia, Acu...	ORPHA:67
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Failure to thrive, Hypomagnesemia, Failure to thri...	OMIM:219800
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis	ORPHA:86884
Bone Dysplasia, Lethal Holmgren Type	Anemia, Recurrent respiratory infections, Weight loss, Failure to thrive	ORPHA:1842
Glycogen Storage Disease Xii	Increased variability in muscle fiber diameter, Cholelithiasis, Hyperbilirubinemia, Cholecystitis...	OMIM:611881
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi...	OMIM:616866
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac...	OMIM:616470
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s...	OMIM:214500
Serotonin Syndrome	Tachycardia, Hypotension, Hypertension	ORPHA:43116
Yellow Nail Syndrome	Recurrent respiratory infections, Lymphedema, Pulmonary arterial hypertension, Sinusitis, Rhiniti...	ORPHA:662
Combined Oxidative Phosphorylation Deficiency 53	Elevated circulating C-reactive protein concentration, Osteomyelitis, Septic arthritis, Arthritis	OMIM:619423
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti...	OMIM:608710
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Severe Acute Respiratory Syndrome	Hypoxemia, Acute infectious pneumonia	ORPHA:140896
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ...	OMIM:620278
Hypomagnesemia 3, Renal	Hyperphosphatemia, Failure to thrive, Increased circulating beta-C-terminal telopeptide concentra...	OMIM:248250
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypothermia, Splenomegaly, Thrombocytopenia	OMIM:251880
Aregenerative Anemia	Abnormal circulating interleukin concentration, Pancytopenia, Decreased proportion of CD4-positiv...	ORPHA:101096
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology	ORPHA:2357
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal...	OMIM:614302
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anemia	ORPHA:514
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Plague	Inflammation of the large intestine, Hypotension, Lymphadenitis, Chapped lip, Skin rash, Arrhythm...	ORPHA:707
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de...	ORPHA:391487
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Akinesia, Skeletal muscle atrophy	OMIM:607598
Erythrokeratodermia Variabilis	Weight loss, Skin rash	ORPHA:317
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya...	OMIM:233450
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Addison Disease	Hypotension, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Orthostatic hypotension, Hyperka...	ORPHA:85138
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Mitochondrial Complex I Deficiency, Nuclear Type 33	Oligohydramnios, Bronchiectasis, Hyperammonemia, Aspiration pneumonia	OMIM:618253
Classic Progressive Supranuclear Palsy Syndrome	Neuromuscular dysphagia, Falls, Axial muscle stiffness, Akinesia, Gait imbalance, Impulsivity	ORPHA:240071
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Pemphigus Vulgaris	Recurrent infections, Weight loss, Recurrent cutaneous abscess formation	ORPHA:704
Genetic Transient Congenital Hypothyroidism	Hypothermia	ORPHA:226316
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Vici Syndrome	Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, F...	OMIM:242840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Depression, Skeletal muscle atrophy, Limb muscle ...	OMIM:157640
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Failure to thrive, Leu...	OMIM:615895
Lysosomal Acid Lipase Deficiency	Hypotension, Ascites, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Hypert...	ORPHA:275761
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Akinesia, Multiple joint contractures, Arthrogryposis multiplex congenit...	ORPHA:994
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Moynahan Syndrome	Cachexia	ORPHA:2574
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Malar rash, Antiphospholipid antibody positivity, Antinu...	OMIM:152700
Pituitary Apoplexy	Hyponatremia, Hypotension, Hypertension	ORPHA:95613
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Recurrent otitis media, Increased circulating ...	OMIM:256040
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H...	ORPHA:168558
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:69665
Dubowitz Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Hypocholesterolemia, Decreased circulatin...	OMIM:223370
Wilson Disease	Hepatitis, Failure to thrive, Splenomegaly, Increased body weight, Anemia, Weight loss, Arthritis...	ORPHA:905
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Huntington Disease-Like 2	Weight loss	OMIM:606438
Desmoplastic Small Round Cell Tumor	Anemia, Cachexia, Weight loss, Neoplasm of the lung	ORPHA:83469
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H...	ORPHA:289548
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Difficulty walking, Rhab...	OMIM:255125
Spinocerebellar Ataxia 21	Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Ataxia, Impulsivity, Progressive cerebel...	OMIM:607454
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ...	OMIM:616037
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615444
Pseudomyxoma Peritonei	Inflammation of the large intestine, Weight loss	ORPHA:26790
Polyarteritis Nodosa	Abnormal lung morphology, Weight loss, Pleuritis, Pericarditis	ORPHA:767
Combined Oxidative Phosphorylation Deficiency 37	Hypothermia	OMIM:618329
Cystic Fibrosis	Decreased body mass index, Failure to thrive, Recurrent Burkholderia cepacia infections, Recurren...	ORPHA:586
Acute Liver Failure	Gastrointestinal hemorrhage, Hypotension, Hepatitis, Shock, Skin rash, Hyperammonemia, Hypocapnia...	ORPHA:90062
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circula...	OMIM:619424
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Keratoconjunctivitis, Weight loss, Thrombocytopenia	ORPHA:79242
Tbck-Related Intellectual Disability Syndrome	Hypothermia, Eczematoid dermatitis	ORPHA:488632
Cap Myopathy	Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Abnorma...	ORPHA:171881
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypothermia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Stomatitis	ORPHA:79282
Takayasu Arteritis	Increased inflammatory response, Anemia, Weight loss, Arthritis, Inflammatory abnormality of the eye	ORPHA:3287
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Akinesia, Hyperalaninemia, Increased serum pyruvate, Small for gestational age	OMIM:619147
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Generalized Pustular Psoriasis	Hypoalbuminemia, Hypocalcemia, Palmoplantar pustulosis, Pustule, Hyponatremia, Erythroderma, Arth...	ORPHA:247353
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Recurrent infections	ORPHA:309288
Hypothyroidism Due To Tsh Receptor Mutations	Hypothermia	ORPHA:90673
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Multiple Pterygium Syndrome, Lethal Type	Amyoplasia, Flexion contracture, Akinesia	OMIM:253290
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Vasculitis, Hematochezia, Hepatitis, Increased ...	OMIM:615846
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Stomatitis	OMIM:618307
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Ciliary Dyskinesia, Primary, 38	Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis	OMIM:618063
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th...	ORPHA:60025
Adult-Onset Autosomal Dominant Leukodystrophy	Temperature instability, Hypothermia, Aspiration pneumonia	ORPHA:99027
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypoalbuminemia, Failure to thrive, Eczematoid dermatitis, Recurrent o...	OMIM:270400
Classic Hodgkin Lymphoma	Splenomegaly, Weight loss, Skin rash	ORPHA:391
Alexander Disease	Hypothermia, Infectious encephalitis	ORPHA:58
Ménétrier Disease	Helicobacter pylori infection, Weight loss, Hypochromic microcytic anemia, Giant hypertrophic gas...	ORPHA:2494
Eosinophilic Granulomatosis With Polyangiitis	Abnormal pleura morphology, Skin rash, Increased inflammatory response, Myositis, Myocarditis, Eo...	ORPHA:183
Shigellosis	Pneumonia, Sepsis, Microangiopathic hemolytic anemia, Ulcerative colitis, Failure to thrive in in...	ORPHA:810
Netherton Syndrome	Eczematoid dermatitis, Emphysema, Increased circulating IgE level, Skin rash, Erythroderma, Recur...	ORPHA:634
Postencephalitic Parkinsonism	Akinesia, Depression, Dysphagia, Abnormal aggressive, impulsive or violent behavior	ORPHA:97349
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the musculature, Akinesia, Joint contracture	OMIM:225790
Panbronchiolitis, Diffuse	Hypoxemia, Bronchiectasis	OMIM:604809
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Central Diabetes Insipidus	Weight loss, Failure to thrive	ORPHA:178029
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Recurrent viral infections, Sepsis, Small for gestational age, Lymphopenia, D...	OMIM:619573
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Abnormal circulating carnitine concentration, Aspi...	ORPHA:431361
Rhabdoid Tumor	Anemia, Weight loss, Thrombocytopenia	ORPHA:69077
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Akinesia, Gait ataxia, Hypomimic face, Ataxia, Dysphagia, Dysdiadochokinesis	ORPHA:247234
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell...	OMIM:603903
Proteasome-Associated Autoinflammatory Syndrome 3	Skin rash, Hypertriglyceridemia, Increased circulating antibody level, Myositis, Arthritis, Sinus...	OMIM:617591
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Chronic otitis media, Type 1 muscle fiber predomi...	OMIM:612949
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:620197
Hypophosphatasia	Emphysema, Hypercalcemia	ORPHA:436
Sporadic Creutzfeldt-Jakob Disease	Recurrent infections, Recurrent aspiration pneumonia, Sepsis	ORPHA:204
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o...	ORPHA:85408
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
Reactive Arthritis	Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Abnormal ...	ORPHA:29207
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Abnormal fear-induced behavior, Obesity, Glucose intolerance, Emotional ...	OMIM:219090
Mitochondrial Complex I Deficiency, Nuclear Type 28	Failure to thrive, Akinesia, Hyperalaninemia, Truncal ataxia, Choreoathetosis	OMIM:618249
Listeriosis	Arteritis, Abscess, Pustule, Meningitis, Endocarditis, Unusual CNS infection, Unusual skin infect...	ORPHA:533
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Antiphospholipid a...	ORPHA:227990
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Monoclonal ...	ORPHA:91139
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Failure to thrive	OMIM:244450
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Hypertrig...	ORPHA:31150
Sarcoidosis	Fever, Parotitis, Leukopenia, Hypothermia, Increased T cell count, Anemia, Keratoconjunctivitis s...	ORPHA:797
Hereditary Sensory And Autonomic Neuropathy Type 4	Unexplained fevers, Recurrent fever, Fasciitis, Osteomyelitis, Abscess, Hypothermia, Anemia, Toot...	ORPHA:642
Castleman Disease	Anemia, Weight loss, Thrombocytopenia, Increased circulating interleukin 6 concentration, Decreas...	ORPHA:160
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Hypokalemia, Supravent...	ORPHA:91347
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Coccidioidomycosis	Morbilliform rash, Abnormality of the spleen, Abscess, Erythema nodosum, Pleural empyema, Unusual...	ORPHA:228123
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Aspiration pneumonia	ORPHA:79264
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Hypothermia	ORPHA:255210
Isolated Thyroid-Stimulating Hormone Deficiency	Hypothermia	ORPHA:90674
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypotension, Shock, Hyponatremia, Hypocapnia, Hyperkalemia, Acne, Hypochloremia, Dehydration, Hyp...	ORPHA:90794
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pulmonary embolism, Budd-Chiari syndrome, Reduced hapto...	ORPHA:447
Nephroblastoma	Weight loss, Neoplasm of the lung	ORPHA:654
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Hashimoto thyroidi...	ORPHA:227982
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Depression, Decreased muscle mass, Akinesia, Obsessive-compulsive trait, Myopathy, M...	OMIM:234200
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypertension	ORPHA:93256
Nodular Non-Suppurative Panniculitis	Inflammatory abnormality of the eye, Panniculitis, Weight loss, Splenomegaly	ORPHA:33577
Wolman Disease	Anemia, Cachexia, Bone-marrow foam cells, Splenomegaly	ORPHA:75233
Benign Recurrent Intrahepatic Cholestasis	Weight loss, Pancreatitis	ORPHA:65682
African Trypanosomiasis	Myelitis, Keratitis, Conjunctivitis, Difficulty walking, Hepatosplenomegaly, Akinesia, Splenomega...	ORPHA:3385
Ciliary Dyskinesia, Primary, 2	Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis	OMIM:606763
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:208900
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Stevens-Johnson Syndrome	Sepsis, Abnormality of neutrophils, Abnormal pleura morphology, Weight loss, Pancreatitis, Thromb...	ORPHA:36426
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Hypomagnesemia, Elbow flexion contracture, Hepatosplenomegaly, Hemolytic anemi...	OMIM:619503
Loeffler Endocarditis	Eosinophilia, Weight loss, Pericarditis	ORPHA:75566
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca	OMIM:270150
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Abnormality of body weight, Leukopenia, Skin rash, Decreased body weight, I...	ORPHA:2298
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Inc...	OMIM:181000
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Leukocytosis, Thrombocytosis	ORPHA:2331
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:619167
Mitochondrial Neurogastrointestinal Encephalomyopathy	Anemia, Cachexia, Weight loss	ORPHA:298
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Depression, Gait ataxia, Ragged-red muscle fibers	ORPHA:70595
Neurodegeneration With Brain Iron Accumulation 5	Aggressive behavior, Akinesia	OMIM:300894
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Emphysema, Mitral regurgitation, Abnormality of ...	ORPHA:363618
Menkes Disease	Osteomyelitis, Hypothermia	ORPHA:565
Chromomycosis	Recurrent bacterial infections, Abnormal lung morphology, Keratoconjunctivitis sicca, Keratitis	ORPHA:182
Toxic Epidermal Necrolysis	Sepsis, Abnormal pleura morphology, Weight loss, Pancreatitis, Neutropenia, Thrombocytopenia, Ane...	ORPHA:537
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph...	OMIM:158310
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp...	OMIM:607944
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Pulmonary cyst, Recurrent upper respiratory tract infections, Recurrent pneumonia, Eczematoid der...	OMIM:147060
Prolactinoma	Hypotension	ORPHA:2965
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Recurrent respiratory infections, Cachexia	ORPHA:702
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Interstitial Cystitis	Elevated circulating C-reactive protein concentration, Depression, Abnormality of tumor necrosis ...	ORPHA:37202
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent infections, Recurrent aspiration pneumonia, Small for gestational age	ORPHA:79243
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis, Portal hypertension	OMIM:620365
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl...	OMIM:248500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Eleva...	OMIM:613150
Sitosterolemia 1	Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste...	OMIM:210250
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Recurrent otitis medi...	OMIM:620233
Hereditary Xanthinuria	Hypouricemia, Rheumatoid arthritis, Gout, Arthropathy, Hyperxanthinemia	ORPHA:3467
Alveolar Echinococcosis	Pulmonary cyst, Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal s...	ORPHA:284
Spondyloenchondrodysplasia	Pneumonia, Vasculitis, Hepatitis, Skin rash, Raynaud phenomenon, Arthritis, Juvenile rheumatoid a...	ORPHA:1855
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Recurrent infections, Bronchiectasis	OMIM:615434
Secondary Short Bowel Syndrome	Enterocolitis, Weight loss, Failure to thrive, Sepsis	ORPHA:95427
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Neuroendocrine Neoplasm Of Appendix	Hypotension, Tricuspid stenosis, Palpitations, Heart murmur	ORPHA:100079
Zygomycosis	Pustule, Acute infectious pneumonia, Periorbital edema, Endocarditis, Gastrointestinal hemorrhage...	ORPHA:73263
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:793
Mcdonough Syndrome	Cachexia	ORPHA:2471
Gm1 Gangliosidosis	Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephaliti...	ORPHA:354
Anaplastic Thyroid Carcinoma	Weight loss, Neoplasm of the lung	ORPHA:142
Malt Lymphoma	Posterior uveitis, Recurrent respiratory infections, Anemia, Weight loss	ORPHA:52417
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Progressive cerebellar ataxia	ORPHA:98773
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Anemia, Pancre...	ORPHA:499009
Aicardi-Goutieres Syndrome 9	Failure to thrive, Recurrent urinary tract infections, Hepatosplenomegaly, Hemolytic anemia, Chil...	OMIM:619487
Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Increased inflammatory response, Pr...	ORPHA:900
Huntington Disease	Weight loss, Decreased body mass index	ORPHA:399
Arthrogryposis Multiplex Congenita 5	Umbilical hernia, Elbow flexion contracture, Akinesia, Inguinal hernia, Camptodactyly, Flexion co...	OMIM:618947
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Native American Myopathy	Congenital contracture, Skeletal muscle atrophy, Inability to walk, Muscle fiber atrophy, Camptod...	ORPHA:168572
Occipital Horn Syndrome	Hypothermia, Esophagitis, Hepatitis	ORPHA:198
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Failure to thrive, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Weight loss,...	ORPHA:1018
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ...	OMIM:123700
Multiple Myeloma	Pleural effusion, Splenomegaly, Increased circulating IgA level, Weight loss, Anemia, Increased c...	ORPHA:29073
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly,...	ORPHA:470
Christianson Syndrome	Cachexia	ORPHA:85278
Glycogen Storage Disease Ib	Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Neutropenia, Recurrent bac...	OMIM:232220
Medullary Thyroid Carcinoma	Weight loss, Neoplasm of the lung	ORPHA:1332
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Failure to thrive, Gout, Anemia, Enterocoliti...	ORPHA:79259
Liposarcoma	Weight loss	ORPHA:69078
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Peripheral pulmonary artery stenosis, Emphysema, Oligohydramnios, Supravalv...	OMIM:219100
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance	OMIM:619173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated circulating creatine...	OMIM:616538
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Akinesia, Freezing of gait	OMIM:619911
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Al Amyloidosis	Howell-Jolly bodies, Increased circulating antibody level, Weight loss, Anemia, Abnormal pulmonar...	ORPHA:85443
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Graves Disease	Weight loss	OMIM:275000
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Corticobasal Syndrome	Akinesia, Gait disturbance	ORPHA:454887
Thymic Carcinoma	Weight loss	ORPHA:99868
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Fever, Hypothermia, Infectious encephalitis	ORPHA:293987
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Fabry Disease	Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart failure, Emphy...	ORPHA:324
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	ORPHA:100026
Osteosarcoma	Weight loss	ORPHA:668
Budd-Chiari Syndrome	Splenomegaly, Peritonitis, Weight loss, Cholecystitis	ORPHA:131
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect...	OMIM:251260
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Emphysema, Ascites, Pulmonary ...	ORPHA:538
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusi...	OMIM:615067
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypothermia	ORPHA:226307
Kikuchi-Fujimoto Disease	Leukopenia, Malar rash, Pleural effusion, Skin rash, Splenomegaly, Pustule, Anemia, Lymphocytosis...	ORPHA:50918
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Parkinson Disease 17	Akinesia	OMIM:614203
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Failure to thrive	ORPHA:2176
Fanconi Anemia, Complementation Group F	Pneumonia, Failure to thrive, Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Congenital Tufting Enteropathy	Punctate keratitis, Weight loss, Failure to thrive, Arthritis	ORPHA:92050
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ...	ORPHA:589
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Cronkhite-Canada Syndrome	Anemia, Cachexia, Splenomegaly	ORPHA:2930
Renpenning Syndrome	Cachexia	ORPHA:3242
Hypothyroidism, Congenital, Nongoitrous, 2	Hypothermia	OMIM:218700
Lissencephaly Due To Lis1 Mutation	Polyhydramnios, Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
Cryptococcosis	Pneumonia, Sepsis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritoniti...	ORPHA:1546
Behçet Disease	Acne, Recurrent aphthous stomatitis, Pleural effusion, Splenomegaly, Infectious encephalitis, Inc...	ORPHA:117
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Cachexia, Failure to thrive	ORPHA:217346
Gaucher Disease, Type Ii	Bronchiolitis, Failure to thrive, Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pn...	OMIM:230900
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Supranuclear Palsy, Progressive, 2	Falls, Akinesia, Gait imbalance, Retrocollis, Irritability, Dysphagia	OMIM:609454
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Giant Cell Arteritis	Abnormal pleura morphology, Weight loss, Arthritis, Recurrent pharyngitis, Meningitis, Pericarditis	ORPHA:397
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Macroglossia, Omphalocele, Torticollis	OMIM:617022
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Neuroblastoma, Susceptibility To, 1	Anemia, Weight loss, Failure to thrive	OMIM:256700
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Weight loss, Intraalveolar phospholipid accumulation	ORPHA:747
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Acrodermatitis Enteropathica	Failure to thrive, Pustule, Weight loss, Conjunctivitis, Cheilitis, Blepharitis	ORPHA:37
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Retrocollis, Irritability, Dysphagia	OMIM:601104
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, P...	ORPHA:90349
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Solitary Fibrous Tumor	Weight loss, Neoplasia of the pleura, Neoplasm of the lung	ORPHA:2126
Geleophysic Dysplasia 3	Pneumonia, Polyhydramnios, Mitral regurgitation	OMIM:617809
Doors Syndrome	Thrombocytosis	ORPHA:79500
Parenteral Nutrition-Associated Cholestasis	Portal hypertension, Hyperlipidemia, Abnormality of cytokine secretion, Abnormal circulating fatt...	ORPHA:567983
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections, Sinus tachycardia, Cardiomyopathy, Tricu...	OMIM:253200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Hypothermia, Aspiration pneumonia	ORPHA:438213
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Erdheim-Chester Disease	Osteomyelitis, Pleural effusion, Skin rash, Weight loss, Anemia, Abnormal pulmonary interstitial ...	ORPHA:35687
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Alport Syndrome 3A, Autosomal Dominant	Nephritis, Hypophosphatemia, Azotemia, Glomerulonephritis, Hypertension	OMIM:104200
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Tetrasomy 12P	Cachexia	ORPHA:884
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Neonatal sepsis, Failure to thrive	ORPHA:90790
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Interstitial pneumon...	OMIM:127550
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent otitis media, Emphys...	OMIM:245150
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Aspiration pneumonia	OMIM:616430
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Aredyld Syndrome	Cachexia, Splenomegaly	ORPHA:1133
Caroli Disease	Leukocytosis, Splenomegaly, Weight loss, Cholangitis, Liver abscess	ORPHA:53035
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss, Splenomegaly, Arthritis	ORPHA:465508
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Progressive flexion contractures, Transient hyperphenylalaninemia	ORPHA:98808
Peripheral Primitive Neuroectodermal Tumor	Anemia, Weight loss, Pancreatitis	ORPHA:370348
8P23.1 Microdeletion Syndrome	Pulmonary artery stenosis, Obesity, Weight loss	ORPHA:251071
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Dilated cardiomyopathy, Dehydration, Pyoderma, Pneumothorax, Gastrointestinal inflamma...	ORPHA:79404
Nijmegen Breakage Syndrome	Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Recurrent sinopulmona...	ORPHA:647
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Respiratory tract infection, Infectious encephalitis, Pustule, Arrhythmia, Sinusitis, ...	ORPHA:68
Oromandibular Dystonia	Weight loss	ORPHA:93958
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Hepatosplenomegaly, Anemia, Weight loss	ORPHA:85450
Fatal Familial Insomnia	Weight loss	OMIM:600072
Osteootohepatoenteric Syndrome	Anemia, Weight loss, Failure to thrive	OMIM:619377
Infantile Krabbe Disease	Recurrent infections, Cachexia, Failure to thrive	ORPHA:206436
Systemic Lupus Erythematosus	Discoid lupus rash, Leukopenia, Malar rash, Weight loss, Lupus nephritis, Arthritis, Thrombocytop...	ORPHA:536
Malignant Atrophic Papulosis	Peritonitis, Arteritis, Pleural effusion, Weight loss	ORPHA:679
Adrenocortical Carcinoma	Increased body weight, Weight loss, Lung adenocarcinoma	ORPHA:1501
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Myositis, Increased circulating IgA level, Keratoconjunctivitis...	ORPHA:79078
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Cardiomyopathy, Aspiration pneumonia	ORPHA:79255
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Chronic Graft Versus Host Disease	Urinary bladder inflammation, Fasciitis, Pancytopenia, Pleural effusion, Keratoconjunctivitis sic...	ORPHA:99921
Primary Sclerosing Cholangitis	Hepatitis, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Weight loss, Polyclonal elevation ...	ORPHA:171
Juvenile Dermatomyositis	Skin rash, Myositis, Weight loss, Arthritis, Pulmonary fibrosis, Pericarditis	ORPHA:93672
Cystic Fibrosis	Recurrent pneumonia, Failure to thrive, Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Recu...	OMIM:219700
Alpha-Mannosidosis, Infantile Form	Pneumonia, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopenia, Otitis media, Re...	ORPHA:309282
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent infections, Keratitis, Eczematoid dermatitis, Failure to thrive, Episcleritis, Scleriti...	ORPHA:2273
Neuroblastoma	Anemia, Weight loss, Thrombocytopenia	ORPHA:635
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Abnormal pulmonary interstitial morphology, Anasarca, Emphysema, Ascites, Oligoh...	OMIM:613658
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Aspiration pneumonia	ORPHA:845
Proximal Spinal Muscular Atrophy	Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Bradycardia	ORPHA:70
Hermansky-Pudlak Syndrome	Pulmonary fibrosis, Weight loss, Neutropenia	ORPHA:79430
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Short Syndrome	Weight loss	ORPHA:3163
Primary Hepatic Neuroendocrine Carcinoma	Weight loss, Neoplasm of the lung	ORPHA:100085
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Normocytic anemia, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S...	ORPHA:91500
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia	OMIM:300472
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Ascites, Perio...	OMIM:613177
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
Dermatomyositis	Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Lung adenocarcinoma, Myositis, Weight...	ORPHA:221
Pancreatic Triacylglycerol Lipase Deficiency	Colitis, Keratoconjunctivitis sicca, Weight loss, Iron deficiency anemia	ORPHA:309031
Chops Syndrome	Obesity, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Neonatal Marfan Syndrome	Emphysema, Tricuspid regurgitation, Mitral regurgitation, Heart murmur, Hypoxemia	ORPHA:284979
Mucolipidosis Type Ii	Hepatosplenomegaly, Splenomegaly, Otitis media, Weight loss, Recurrent respiratory infections	ORPHA:576
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Mucopolysaccharidosis Type 3	Atrioventricular block, Aspiration pneumonia, Reduced left ventricular ejection fraction, Respira...	ORPHA:581
Klatskin Tumor	Weight loss	ORPHA:99978
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity	ORPHA:813
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Weight loss, Failure to thrive, Aspiration pneumonia	ORPHA:2020
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Degcags Syndrome	Pneumonia, Recurrent infections, Failure to thrive, Recurrent urinary tract infections, Hepatospl...	OMIM:619488
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Premature ventricular contrac...	OMIM:602535
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494
Tropical Pancreatitis	Weight loss, Chronic calcifying pancreatitis	ORPHA:103918
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection, Hypercapnia	ORPHA:79138
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Pneumonia, Keloids, Abnormal fear-induced behavior, Failure to thrive, O...	ORPHA:353281
Gallbladder Neuroendocrine Tumor	Weight loss, Cholecystitis	ORPHA:100086
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia...	ORPHA:77293
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, Truncal obesity, Thrombocytopenia	OMIM:301072
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Rett Syndrome	Cachexia	OMIM:312750
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity	ORPHA:85293
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Congestive heart failu...	ORPHA:90348
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Sepsis, Skin rash, Keratoconjunctivit...	ORPHA:95455
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Recurrent aspiration pneumonia	ORPHA:73230
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent aspiration pneumonia, Failure to thrive, Recurrent respiratory infections	ORPHA:397715
Loeys-Dietz Syndrome 4	Emphysema, Eosinophilic infiltration of the esophagus, Pneumothorax	OMIM:614816
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Arterial rupture...	OMIM:130050
Familial Pancreatic Carcinoma	Peritoneal abscess, Hepatosplenomegaly, Weight loss	ORPHA:1333
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Increased nuchal translucency, Pulmonary arterial hypertens...	ORPHA:280633
Cornelia De Lange Syndrome 1	Pneumonia, Otitis media	OMIM:122470
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Familial Colorectal Cancer Type X	Weight loss	ORPHA:440437
Fanconi Anemia	Recurrent urinary tract infections, Leukopenia, Weight loss, Thrombocytopenia, Anemia, Pyridoxine...	ORPHA:84
Hereditary Pheochromocytoma-Paraganglioma	Weight loss	ORPHA:29072
Xfe Progeroid Syndrome	Cachexia, Failure to thrive	OMIM:610965
Glucagonoma	Acanthocytosis, Skin rash, Weight loss, Stomatitis, Normochromic anemia	ORPHA:97280
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash	ORPHA:220295
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Aspiration pneumonia	OMIM:619482
Pancreatoblastoma	Weight loss	ORPHA:677
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly...	ORPHA:2072
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Pneumonia, Keloids, Abnormal fear-induced behavior, Failure to thrive, C...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Pneumonia, Keloids, Abnormal fear-induced behavior, Failure to thrive, C...	ORPHA:353277
Marfan Syndrome	Aortic regurgitation, Pulmonary artery dilatation, Congestive heart failure, Emphysema, Premature...	OMIM:154700
Meier-Gorlin Syndrome 6	Emphysema, Recurrent respiratory infections	OMIM:616835
Marfan Syndrome	Aortic regurgitation, Spontaneous pneumothorax, Pulmonary artery dilatation, Congestive heart fai...	ORPHA:558
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia	ORPHA:109
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Tricuspid regurgitation, Oligo...	OMIM:614437
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Lymphopenia, Leukocytosis, Increased body weight, Recurrent cutaneous ...	ORPHA:99889
Miller-Dieker Lissencephaly Syndrome	Polyhydramnios, Recurrent aspiration pneumonia	OMIM:247200
Coffin-Siris Syndrome	Recurrent infections, Recurrent upper respiratory tract infections, Aspiration pneumonia	ORPHA:1465
Isolated Permanent Neonatal Diabetes Mellitus	Weight loss, Failure to thrive	ORPHA:99885
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Pulmonary arterial hypertension, Aspiration pneumonia	ORPHA:444077
Ellis Van Creveld Syndrome	Emphysema, Aplasia/Hypoplasia of the lungs	ORPHA:289
Grfoma	Weight loss, Neoplasm of the lung	ORPHA:97261
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Refractory anemia	ORPHA:79076
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Failure to thrive, Hypoplasia of the thymus, Recurrent respiratory infections, Small f...	OMIM:264090
Parathyroid Carcinoma	Weight loss, Pancreatitis	ORPHA:143
Somatostatinoma	Weight loss, Hypochromic microcytic anemia	ORPHA:97283
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Recurrent otitis media, Upper eyelid edema, Conjunctivitis, Recur...	OMIM:616268
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly	ORPHA:75565
Vipoma	Weight loss, Normochromic anemia	ORPHA:97282
Trisomy 18	Cachexia	ORPHA:3380
Schwartz-Jampel Syndrome	Cachexia, Decreased body weight	ORPHA:800
Zollinger-Ellison Syndrome	Esophagitis, Weight loss	ORPHA:913
Seckel Syndrome	Cachexia	ORPHA:808
Camurati-Engelmann Disease	Slender build, Leukopenia, Splenomegaly, Cachexia, Anemia	ORPHA:1328
Niemann-Pick Disease Type C	Fetal ascites, Aspiration pneumonia, Ascites, Abnormal lung morphology, Hydrops fetalis	ORPHA:646
Meier-Gorlin Syndrome 1	Emphysema	OMIM:224690
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Weight loss	ORPHA:3337
Stickler Syndrome	Slender build, Cachexia, Osteoarthritis, Recurrent respiratory infections, Chronic otitis media, ...	ORPHA:828
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia	ORPHA:2745
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Oligohydramnios, Pneumothorax, Pulmonary arterial hypertension, Recurren...	OMIM:612289
Choreoacanthocytosis	Acanthocytosis, Splenomegaly, Weight loss, Abnormal erythrocyte enzyme concentration or activity,...	ORPHA:2388
Ppoma	Weight loss	ORPHA:97278
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Alobar Holoprosencephaly	Abnormal heart rate variability, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart rate variability, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart rate variability, Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal heart rate variability, Aspiration pneumonia	ORPHA:220386
Cockayne Syndrome	Cachexia, Malar rash, Splenomegaly, Keratoconjunctivitis sicca	ORPHA:191
Proteus Syndrome	Pulmonary cyst, Bronchogenic cyst, Thymus hyperplasia, Abnormal lung lobation, Splenomegaly, Cach...	ORPHA:744
Lynch Syndrome	Weight loss	ORPHA:144
Viss Syndrome	Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Emphysema, Chronic gastritis...	OMIM:619472
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss, Osteoarthritis	ORPHA:740
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Emphysema, Transient ischemic attack, Ischemic stroke, Unilatera...	ORPHA:500150
Kabuki Syndrome 1	Recurrent infections, Recurrent otitis media, Recurrent aspiration pneumonia, Autoimmune thromboc...	OMIM:147920
Multiple Endocrine Neoplasia Type 1	Weight loss	ORPHA:652
Pmm2-Cdg	Hypoalbuminemia, Anasarca, Aspiration pneumonia, Hypertrophic cardiomyopathy, Lymphedema, Reduced...	ORPHA:79318
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501
Yunis-Varon Syndrome	Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial hypertension, Polyhydramnios, Heart murm...	OMIM:216340
Norrie Disease	Cachexia, Failure to thrive	ORPHA:649

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 Dusp1

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 Dusp1.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
DUSP11-mediated control of 5'-triphosphate RNA regulates RIG-I sensitivity.	Genes & development (November 2020)	Dusp11^{tm1a(EUCOMM)Wtsi} Dusp11^{tm1b(EUCOMM)Wtsi}	PMC7706711
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Dusp14^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dusp1^{tm1(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dusp1^{tm1(KOMP)Wtsi}	PMC6459510
Deficiency in VHR/DUSP3, a suppressor of focal adhesion kinase, reveals its role in regulating cell adhesion and migration.	Oncogene (July 2017)	Dusp1^{tm1(KOMP)Wtsi}	28759036
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Dusp1^{tm1(KOMP)Wtsi}	PMC3996542
Involvement of the cellular phosphatase DUSP1 in vaccinia virus infection.	PLoS pathogens (November 2013)	Dusp1^{tm1(KOMP)Wtsi}	PMC3828168

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
Dusp1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	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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