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Gene: Usp38 MGI:1922091

Gene Summary

Name:

ubiquitin specific peptidase 38

Synonyms:

4631402N15Rik, 4833420O05Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
thrombocytopenia	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.33×10^-07
persistence of hyaloid vascular system	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.00×10^-05
prolonged RR interval	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.60×10^-05
decreased circulating creatinine level	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.52×10^-05
increased total body fat amount	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.26×10^-14
abnormal bone structure	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.55×10^-07
decreased prepulse inhibition	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.97×10^-06
increased mean corpuscular volume	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.26×10^-05
decreased exploration in new environment	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.43×10^-05
decreased lean body mass	Usp38^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.95×10^-15

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	75% (3 of 4)
Aorta	N/A	heterozygote	100% (4 of 4)
Bone	N/A	heterozygote	100% (4 of 4)
Brain	N/A	heterozygote	100% (4 of 4)
Brainstem	N/A	heterozygote	100% (4 of 4)
Brown adipose tissue	N/A	heterozygote	100% (4 of 4)
Cartilage tissue	N/A	heterozygote	100% (4 of 4)
Cerebellum	N/A	heterozygote	100% (4 of 4)
Cerebral cortex	N/A	heterozygote	100% (4 of 4)
Esophagus	N/A	heterozygote	100% (4 of 4)
Eye	N/A	heterozygote	100% (4 of 4)
Gall bladder	N/A	heterozygote	100% (4 of 4)
Heart	N/A	heterozygote	100% (4 of 4)
Hippocampus	N/A	heterozygote	100% (4 of 4)
Hypothalamus	N/A	heterozygote	100% (4 of 4)
Kidney	N/A	heterozygote	100% (4 of 4)
Large intestine	N/A	heterozygote	100% (4 of 4)
Liver	N/A	heterozygote	100% (4 of 4)
Lower urinary tract	N/A	heterozygote	100% (4 of 4)
Lung	N/A	heterozygote	100% (4 of 4)
Lymph node	N/A	heterozygote	75% (3 of 4)
Mammary gland	N/A	heterozygote	50% (2 of 4)
Olfactory lobe	N/A	heterozygote	100% (4 of 4)
Oral epithelium	N/A	heterozygote	100% (4 of 4)
Ovary	N/A	heterozygote	50% (2 of 4)
Oviduct	N/A	heterozygote	50% (2 of 4)
Pancreas	N/A	heterozygote	100% (4 of 4)
Parathyroid gland	N/A	heterozygote	100% (4 of 4)
Peripheral nervous system	N/A	heterozygote	100% (4 of 4)
Peyer's patch	N/A	heterozygote	100% (4 of 4)
Pituitary gland	N/A	heterozygote	75% (3 of 4)
Prostate gland	N/A	heterozygote	50% (2 of 4)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 4)
Skin	N/A	heterozygote	100% (4 of 4)
Small intestine	N/A	heterozygote	100% (4 of 4)
Spinal cord	N/A	heterozygote	100% (4 of 4)
Spleen	N/A	heterozygote	100% (4 of 4)
Stomach	N/A	heterozygote	100% (4 of 4)
Striatum	N/A	heterozygote	100% (4 of 4)
Testis	N/A	heterozygote	50% (2 of 4)
Thymus	N/A	heterozygote	100% (4 of 4)
Thyroid gland	N/A	heterozygote	100% (4 of 4)
Trachea	N/A	heterozygote	100% (4 of 4)
Uterus	N/A	heterozygote	50% (2 of 4)
Vascular system	N/A	heterozygote	100% (4 of 4)
White adipose tissue	N/A	heterozygote	0.0% (0 of 4)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	66.67% (2 of 3)
Brain	N/A	homozygote	100% (3 of 3)
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	100% (3 of 3)
Embryo	N/A	homozygote	100% (3 of 3)
Eye	N/A	heterozygote	100% (3 of 3)
Eye	N/A	homozygote	100% (3 of 3)
Footplate	N/A	heterozygote	Not available
Footplate	N/A	homozygote	33.33% (1 of 3)
Forebrain	N/A	heterozygote	66.67% (2 of 3)
Forebrain	N/A	homozygote	100% (3 of 3)
Forelimb	N/A	heterozygote	66.67% (2 of 3)
Forelimb	N/A	homozygote	66.67% (2 of 3)
Handplate	N/A	heterozygote	Not available
Handplate	N/A	homozygote	33.33% (1 of 3)
Head	N/A	heterozygote	100% (3 of 3)
Head	N/A	homozygote	100% (3 of 3)
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	33.33% (1 of 3)
Hindbrain	N/A	heterozygote	66.67% (2 of 3)
Hindbrain	N/A	homozygote	100% (3 of 3)
Hindlimb	N/A	heterozygote	66.67% (2 of 3)
Hindlimb	N/A	homozygote	66.67% (2 of 3)
Liver	N/A	heterozygote	Not available
Liver	N/A	homozygote	33.33% (1 of 3)
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Mandibular process	N/A	homozygote	33.33% (1 of 3)
Maxillary process	N/A	heterozygote	Not available
Maxillary process	N/A	homozygote	33.33% (1 of 3)
Midbrain	N/A	heterozygote	66.67% (2 of 3)
Midbrain	N/A	homozygote	100% (3 of 3)
Oral cavity	N/A	heterozygote	Not available
Oral cavity	N/A	homozygote	33.33% (1 of 3)
Skin	N/A	heterozygote	Not available
Skin	N/A	homozygote	33.33% (1 of 3)
Tail somite	N/A	heterozygote	66.67% (2 of 3)
Tail somite	N/A	homozygote	66.67% (2 of 3)
Tail	N/A	heterozygote	66.67% (2 of 3)
Tail	N/A	homozygote	100% (3 of 3)

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%
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%
esophagus	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%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
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%
vascular system	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

Adult LacZ

LacZ Images Wholemount

27 Images

View images

Echo

M-Mode Images

32 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Usp38 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 Usp38 (0 diseases)
Human diseases predicted to be associated with Usp38 (963 diseases)

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

The table below shows human diseases predicted to be associated to Usp38 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Pulmonary fibrosis, Honeycomb lung	OMIM:616371
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Immunodeficiency 51	Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc...	OMIM:613953
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo...	ORPHA:2032
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage	OMIM:178550
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Pulmonary fibrosis	OMIM:620400
Interstitial Lung Disease 2	Usual interstitial pneumonia, Pulmonary fibrosis, Elevated bronchoalveolar lavage fluid neutrophi...	OMIM:178500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Pulmonary fibrosis	OMIM:618674
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Chronic Beryllium Disease	Pulmonary fibrosis, Hypersensitivity pneumonitis, Reticulonodular pattern on pulmonary HRCT, Lymp...	ORPHA:133
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb...	OMIM:616216
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp...	OMIM:612387
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Riddle Syndrome	Pulmonary fibrosis	OMIM:611943
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame...	OMIM:617021
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Arrhythmia, Thrombocytopenia, Decr...	ORPHA:54057
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections	OMIM:618806
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Melena, Increased mean corpuscular volume, Increased to...	ORPHA:98870
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT	ORPHA:60026
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar...	ORPHA:449280
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma...	OMIM:616414
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p...	ORPHA:79126
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope...	OMIM:618849
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Immunodeficiency 60 And Autoimmunity	Ulcerative colitis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Pulmonary fibro...	OMIM:618394
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification	ORPHA:3319
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr...	OMIM:615518
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Hypers...	ORPHA:1163
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, Hypomethio...	ORPHA:2169
Malaria	Hyperbilirubinemia, Anemia, Cognitive impairment, Thrombocytopenia, Elevated circulating C-reacti...	ORPHA:673
Felty Syndrome	Recurrent pneumonia, Episcleritis, Synovitis, Sinusitis, Rhinitis, Arthritis, Recurrent pharyngit...	ORPHA:47612
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:614742
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno...	OMIM:185000
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit...	OMIM:608971
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent pneumonia, Lymphadenitis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit...	OMIM:618986
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade...	ORPHA:2302
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis	OMIM:613021
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis	ORPHA:930
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Niemann-Pick Disease, Type B	Mental deterioration, Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertrigl...	OMIM:607616
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pulmonary fibrosis	OMIM:614743
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Pulmonary fibrosis, Erysipelas	OMIM:615704
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, Ab...	ORPHA:86839
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Mitral regurgi...	OMIM:612561
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Peripheral retinal atrophy, Leukopenia, Elliptocytosis,...	OMIM:616959
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia	OMIM:189800
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec...	OMIM:615504
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ...	OMIM:617052
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis	ORPHA:220402
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormal pleura morphology, Pulmonary fibrosis	ORPHA:210136
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia, Decreased body weight	OMIM:613606
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR...	ORPHA:99931
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Antisynthetase Syndrome	Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abnormal pulmonary inter...	ORPHA:81
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Abno...	ORPHA:98826
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyper...	OMIM:277410
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia	OMIM:616176
Combined Immunodeficiency, X-Linked	Pneumonia, Sinusitis, Recurrent bronchitis, Otitis media	OMIM:312863
Immunodeficiency 85 And Autoimmunity	Eczematoid dermatitis, Oligoarthritis, Erythroderma, Recurrent respiratory infections, Pulmonary ...	OMIM:619510
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Pleural effusion, Crohn's disease, Per...	OMIM:618935
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Glomerulonephritis	OMIM:247800
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati...	OMIM:615234
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis	OMIM:611926
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Elevated circulating creatinine concentration, Papilledema, Osteopetrosis, An...	OMIM:620366
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corp...	OMIM:611590
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Majeed Syndrome	Failure to thrive, Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadeq...	OMIM:609628
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Bronchiectasis	OMIM:617638
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Respiratory trac...	ORPHA:79128
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Beta-Thalassemia	Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, Splenomegaly, Irritability, ...	ORPHA:848
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail...	ORPHA:75564
Mhc Class I Deficiency 1	Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie...	OMIM:604571
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis	OMIM:619466
Microlissencephaly	Pneumonia	ORPHA:1083
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros...	OMIM:610978
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Recurrent upper respiratory tract infections, Colitis...	OMIM:613101
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Type II pneu...	OMIM:263000
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:610539
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Osteopenia, Aplastic anemia, Increased mean corpuscular volume...	ORPHA:811
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari syndrome, Lymphopenia, Leukopenia...	OMIM:127550
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Portal hypertension, Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Irritability, Thrombocytop...	OMIM:229050
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut...	OMIM:615285
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Failure to thrive, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia	OMIM:615085
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Thiamine-responsive megalobla...	OMIM:249270
Platelet Signal Processing Defect	Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced...	OMIM:173590
Relapsing Fever	Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,...	ORPHA:91547
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation...	OMIM:155100
Fetal Parvovirus Syndrome	Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia	ORPHA:295
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Lipoatrophy, Thrombocytopenia, Congestive heart failure	ORPHA:141184
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis	OMIM:612562
Bleeding Disorder, Platelet-Type, 15	Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega...	OMIM:615193
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating creatine kinase concentration, Amelogenesis imperfecta, T...	OMIM:614727
Mixed Connective Tissue Disease	Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abnormal pulm...	ORPHA:809
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP...	OMIM:618462
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr...	ORPHA:231222
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Pulmonary fibrosis	ORPHA:457240
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert...	OMIM:603552
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Hypertension	OMIM:161900
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Optic disc...	OMIM:611490
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thr...	ORPHA:49827
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Irritability, ...	OMIM:300539
Hermansky-Pudlak Syndrome 4	Pulmonary fibrosis	OMIM:614073
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Malar rash, Skin rash, Pustule, Myositis, Recurrent respiratory infections, Pulmon...	OMIM:615934
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Confusion, Elevated circulating creatinine concentration, Tran...	OMIM:274150
Gaucher Disease, Type Iii	Progressive neurologic deterioration, Depression, Pancytopenia, Splenomegaly, Decreased body weig...	OMIM:231000
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl...	ORPHA:231226
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen, Failu...	OMIM:617872
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Failure to thrive, Cardiomyopathy, Splenomegaly, Hyperammonemia, Thrombocytopenia,...	ORPHA:79312
Sengers Syndrome	Mental deterioration, Osteopenia, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, T...	OMIM:212350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Retinal degeneration, Bradycardia	OMIM:617173
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia...	ORPHA:261250
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Bronchiectasis	OMIM:619126
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me...	OMIM:616943
Braddock Syndrome	Pulmonary fibrosis	ORPHA:52047
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,...	ORPHA:420741
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis	OMIM:601457
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ...	ORPHA:494444
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Splenomegaly, Thrombocytopenia, Irritability	OMIM:615010
Beta-Thalassemia Major	Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl...	ORPHA:231214
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pulmonary fibrosis	OMIM:619767
Diffuse Alveolar Hemorrhage	Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT	ORPHA:90060
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612649
Gray Platelet Syndrome	Epistaxis, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis...	OMIM:607594
Babesiosis	Depression, Congestive heart failure, Confusion, Leukopenia, Splenomegaly, Thrombocytopenia, Hemo...	ORPHA:108
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Rhabdoid Tumor	Irritability, Hypertension, Weight loss, Internal hemorrhage, Thrombocytopenia, Anemia, Hypercalc...	ORPHA:69077
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe...	OMIM:618699
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Congenital Toxoplasmosis	Failure to thrive in infancy, Abnormality of retinal pigmentation, Cognitive impairment, Thromboc...	ORPHA:858
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Failure to thrive, Hypocystinemia	OMIM:617744
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I...	OMIM:231095
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, A...	ORPHA:27
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,...	OMIM:616576
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media	OMIM:617092
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:615139
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Pleural ef...	OMIM:619644
Aregenerative Anemia	Depression, Fatigable weakness of skeletal muscles, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:101096
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Pustule, Pulmonary fibrosis, Stomatitis	OMIM:612852
Acute Lung Injury	Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea...	ORPHA:178320
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Failure to thriv...	OMIM:616050
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Polymyositis	Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Arthritis, Pericarditis	ORPHA:732
Systemic Lupus Erythematosus 17	Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy...	OMIM:301080
Immunodeficiency 48	Pneumonia, Recurrent respiratory infections, Eczematoid dermatitis	OMIM:269840
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi...	OMIM:615482
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ...	ORPHA:66529
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:615481
Coach Syndrome 2	Elevated circulating creatinine concentration, Coloboma, Hypertension, Chorioretinal coloboma	OMIM:619111
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis, Recurrent respiratory in...	ORPHA:217390
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Splenomegaly, Abno...	ORPHA:398124
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia	OMIM:617056
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Conjunctival tela...	OMIM:619774
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma...	OMIM:620486
Bernard-Soulier Syndrome	Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in...	OMIM:231200
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis	OMIM:617091
Slc35A1-Cdg	Cellulitis, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, ...	ORPHA:238459
Bone Marrow Failure Syndrome 5	Pulmonary fibrosis	OMIM:618165
Mitochondrial Complex I Deficiency, Nuclear Type 13	Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, Ir...	OMIM:618235
Isolated Agammaglobulinemia	Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Re...	ORPHA:229717
Bleeding Disorder, Platelet-Type, 20	Epistaxis, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Epistaxis, Thrombocytopenia	OMIM:613554
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Memory impairment, Depression, Cardiomyopathy, El...	ORPHA:247691
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Abnormal pleura morphology, Recurrent aphthou...	ORPHA:29207
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis	OMIM:266265
Preeclampsia	Elevated systolic blood pressure, Elevated diastolic blood pressure, Elevated circulating creatin...	ORPHA:275555
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:616481
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Propionic Acidemia	Hyperglycinuria, Failure to thrive, Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia...	OMIM:606054
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Failure to thrive, Elevated circulating propionylcarnitine concentration, Inguina...	OMIM:614857
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasis, Recurrent upper ...	ORPHA:397596
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Pulmonary hemorrhage, Recurr...	ORPHA:79124
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Bronchiectasis, Chronic sinusitis, Chronic rhinitis	OMIM:614017
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis	ORPHA:2375
Stuve-Wiedemann Syndrome 2	Camptodactyly, Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure	OMIM:619751
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper...	ORPHA:439232
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141179
Immunodeficiency 46	Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Failure to thrive, Thrombocytopenia	ORPHA:67048
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukoc...	ORPHA:98850
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:611884
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopen...	OMIM:259710
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Flexion contracture, Hypertension, Small for gesta...	OMIM:616733
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pulmona...	OMIM:613845
Specific Granule Deficiency 2	Osteopenia, Failure to thrive, Absent neutrophil specific granules, Amelogenesis imperfecta, Thro...	OMIM:617475
Primary Ciliary Dyskinesia	Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract infection, Chron...	ORPHA:244
Amed Syndrome, Digenic	Failure to thrive, Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid leukemia, ...	OMIM:619151
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract...	ORPHA:60025
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis	OMIM:613193
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence ...	OMIM:187900
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent res...	OMIM:613808
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Camptodactyly,...	OMIM:608104
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia	OMIM:617182
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Isovaleric Acidemia	Hyperglycinuria, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Elevated urin...	OMIM:243500
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Ciliary Dyskinesia, Primary, 12	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Chronic ot...	OMIM:612650
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:614935
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi...	OMIM:210250
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt...	OMIM:226990
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Recur...	OMIM:620321
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia, Irritability	OMIM:612952
Typhoid	Abnormal pulmonary interstitial morphology, Skin rash, Infectious encephalitis	ORPHA:99745
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B...	OMIM:616299
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Skin rash, Chronic oral candidiasis	OMIM:300400
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Th...	OMIM:603585
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Diffuse Cutaneous Systemic Sclerosis	Pulmonary fibrosis, Arthritis	ORPHA:220393
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis	OMIM:615513
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Pulmonary fibrosis	OMIM:203300
Ciliary Dyskinesia, Primary, 51	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:620438
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Bronchiolitis obliterans, Eczematoid dermatitis	OMIM:617241
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Persistent fetal...	OMIM:618775
Caspase 8 Deficiency	Pneumonia, Recurrent sinopulmonary infections, Eczematoid dermatitis	OMIM:607271
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen...	OMIM:308240
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Depression, Cerebral vasculitis, Confusion, Leukocytosis, Hyponatremia, Thrombocytopenia	ORPHA:83601
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l...	ORPHA:507
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia, Reduce...	ORPHA:542323
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Castleman Disease	Restrictive cardiomyopathy, Anemia, Weight loss, Thrombocytopenia, Elevated circulating C-reactiv...	ORPHA:160
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,...	OMIM:300835
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Interstitial pneumonitis, De...	OMIM:615952
Idiopathic Aplastic Anemia	Epistaxis, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thrombocytopenia, Neutropenia, An...	ORPHA:88
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Osteopetrosis, Thromb...	OMIM:259700
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Emphysema, Pleural effusion, Iridocyclitis, Arthritis, Abnor...	OMIM:181000
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Immune-Mediated Necrotizing Myopathy	Myositis, Abnormal pulmonary interstitial morphology, Skin rash, Myocarditis	ORPHA:206569
Fusariosis	Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exanthema, Myosit...	ORPHA:228119
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Homocystinuria, Hypotension, Cystathioninemia, Pigmentary retinopathy, Failure to thrive, Cystath...	OMIM:277400
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Recurrent pneumonia, Pulmonary fibrosis, Recurrent re...	ORPHA:209905
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Congestive heart failure, Decreased plasma free carnitine, Hyperalaninemia, Br...	OMIM:619048
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, B...	OMIM:614702
Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Increased inflammatory response, Pr...	ORPHA:900
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess	OMIM:610910
Neonatal Alloimmune Neutropenia	Pneumonia	ORPHA:464370
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:608184
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Periodontitis, Recurrent otitis media, Pulmonary fibrosis, Chronic oral cand...	OMIM:608233
C3 Glomerulopathy	Elevated circulating creatinine concentration, Lipodystrophy, Hypertension	ORPHA:329918
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Lipodystrophy, Thrombocytopenia, B lym...	OMIM:618048
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Cardiomyopathy, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal ...	ORPHA:292
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin...	OMIM:212138
Interstitial Lung And Liver Disease	Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Intraalveolar phospholipid accumu...	OMIM:615486
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Failure to thrive, Elevated circulating propionylcarnitine concentration,...	OMIM:251110
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer...	OMIM:614878
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia	OMIM:615750
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Melioidosis	Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Respiratory tract infecti...	ORPHA:31202
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl...	OMIM:139090
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Pneumonia, Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the ...	ORPHA:436159
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Rajab Interstitial Lung Disease With Brain Calcifications 2	Abnormal pulmonary interstitial morphology	OMIM:619013
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration, Hypertension	ORPHA:567544
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr...	OMIM:615745
Systemic Sclerosis	Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Arthritis, Myocarditis, Abnormal pu...	ORPHA:90291
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Hyponatremia, Thrombocytopenia, Tac...	ORPHA:449285
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:616937
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia	OMIM:620326
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Rickets, Osteomalacia	OMIM:179830
Tularemia	Confusion, Leukocytosis, Thrombocytopenia, Anemia, Tachycardia	ORPHA:3392
Ciliary Dyskinesia, Primary, 38	Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis	OMIM:618063
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Immunodeficiency 56	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepatitis due to crypto...	OMIM:615207
Erdheim-Chester Disease	Osteomyelitis, Pleural effusion, Skin rash, Abnormal pulmonary interstitial morphology, Pulmonary...	ORPHA:35687
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Hypotension, Fasciitis, Shock, Confusion, Elevated circulating creat...	ORPHA:36234
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Holocarboxylase Synthetase Deficiency	Weight loss, Hyperammonemia, Thrombocytopenia, Irritability	ORPHA:79242
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocyto...	ORPHA:263501
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i...	OMIM:613807
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, ...	ORPHA:95717
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Failure to thrive, Umbilical hernia, Large for gestational age, Thrombocytopenia, ...	OMIM:614520
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Irritability, Poikilocytosi...	OMIM:618278
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Pediatric-Onset Graves Disease	Failure to thrive, Sinus tachycardia, Congestive heart failure, Palpitations, Splenomegaly, Emoti...	ORPHA:525731
Atelis Syndrome 1	Anemia, Attention deficit hyperactivity disorder, Leukopenia, Thrombocytopenia	OMIM:620184
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Pneumonia, Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, ...	ORPHA:183675
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Hypersensitivity pneumonitis, Pleural effusion, Atelectasis	ORPHA:2902
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Skin rash, Gastritis, Perianal abscess, Recurrent respirator...	OMIM:618108
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Osteopenia, Depression, Increased circulati...	ORPHA:77259
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Hyperbilir...	OMIM:259720
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Pleural effusion...	OMIM:620233
Fetal Cytomegalovirus Syndrome	Optic atrophy, Retinal hemorrhage, Splenomegaly, Thrombocytopenia, Anemia, Conjugated hyperbiliru...	ORPHA:294
Noonan Syndrome 12	Lymphopenia, Supravalvular aortic stenosis, Thrombocytopenia	OMIM:618624
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Dyskeratosis Congenita, Autosomal Recessive 1	Pulmonary fibrosis	OMIM:224230
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ...	OMIM:616037
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Acute infectious pneumonia	ORPHA:264675
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Hepatoportal Sclerosis	Hypoalbuminemia, Gastrointestinal hemorrhage, Hypersplenism, Hyperbilirubinemia, Leukopenia, Sple...	ORPHA:64743
Autoimmune Lymphoproliferative Syndrome, Type Iia	Vasculitis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Elevated prop...	OMIM:603909
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Immunodeficiency 62	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:618459
Dyskeratosis Congenita, Autosomal Dominant 3	Abnormal pulmonary interstitial morphology, Pulmonary fibrosis	OMIM:613990
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Dyskeratosis Congenita, Autosomal Dominant 2	Pulmonary fibrosis	OMIM:613989
Stt3B-Cdg	Optic atrophy, Failure to thrive, Thrombocytopenia	ORPHA:370924
Ciliary Dyskinesia, Primary, 22	Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ...	OMIM:615444
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Cerebellar hemorr...	OMIM:251000
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Diarrhea 12, With Microvillus Atrophy	Bronchiectasis, Respiratory tract infection	OMIM:619445
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:620197
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Thro...	OMIM:169400
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Mildly elevated creatine kinase, Bradycardia	OMIM:620265
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Juvenile Dermatomyositis	Skin rash, Myositis, Arthritis, Pulmonary fibrosis, Pericarditis	ORPHA:93672
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia	ORPHA:90117
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess	OMIM:619223
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Failure to thrive, Thrombocytopenia	OMIM:615597
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis	OMIM:614069
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia	OMIM:179800
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Myh9-Related Disease	Giant platelets, Spontaneous, recurrent epistaxis, Myocardial infarction, Congenital thrombocytop...	ORPHA:182050
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, Hypertriglyceridem...	OMIM:617591
Alg8-Cdg	Optic atrophy, Failure to thrive, Abnormality of subcutaneous fat tissue, Hyponatremia, Camptodac...	ORPHA:79325
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Failure to thrive, Cystathioninuria, Elevated circulating propi...	OMIM:277380
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Abnormal EKG, Elevated circulating creatinine concentration, Syncope, Increa...	ORPHA:230
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Pyoderma, Epididymitis, Recurrent si...	OMIM:300755
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Iron deficiency anemia, Decreased HDL cholestero...	OMIM:618885
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology	ORPHA:2357
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma, Chronic oral candidiasis	ORPHA:169160
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll...	OMIM:153670
Cholesteryl Ester Storage Disease	Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hy...	OMIM:278000
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Transient ischemic att...	ORPHA:464343
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:614868
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Autosomal Agammaglobulinemia	Chronic otitis media, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, ...	ORPHA:33110
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Rickets	OMIM:615605
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Atrophic gastritis, Recurrent pneumonia, Inflammation of the large intestine, Recurren...	OMIM:614700
Glycogen Storage Disease Iv	Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosple...	OMIM:232500
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion	ORPHA:330001
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Failure to thrive, Splenomegaly, Bradycardia, Elevated circulating creatine kinase co...	OMIM:613327
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Mental deterioration, Hypomethioninemia, Neutropenia, Delirium, Macular coloboma, Methylmalonic a...	ORPHA:79282
Q Fever	Pneumonia, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Infectious encephalitis, My...	ORPHA:781
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Fetal Gaucher Disease	Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thromb...	ORPHA:85212
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Pericarditis	OMIM:152700
X-Linked Agammaglobulinemia	Cellulitis, Failure to thrive, Hypocalcemia, Weight loss, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47
Niemann-Pick Disease, Type C2	Pulmonary fibrosis	OMIM:607625
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Leukocyt...	ORPHA:94093
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Eczematoid dermatitis, Pleural effusion, Colitis, Erythrode...	ORPHA:3260
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	ORPHA:231736
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Immune Thrombocytopenia	Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Thrombocytopenia, Cerebral hemorrhage	ORPHA:3002
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Acute infectious pneumonia,...	ORPHA:723
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co...	ORPHA:3226
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Confusion, Elevated...	ORPHA:340
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis	OMIM:619468
Staphylococcal Necrotizing Pneumonia	Pneumonia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmonary pneumatocele, Pl...	ORPHA:36238
Congenital Rubella Syndrome	Anemia, Abnormality of retinal pigmentation, Splenomegaly, Thrombocytopenia	ORPHA:290
Quebec Platelet Disorder	Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infec...	OMIM:242700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolyt...	OMIM:304790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Bronchiectasis, Chronic bronchitis, Sinusitis	OMIM:242860
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Thrombocytopenia, Cerebral hemor...	ORPHA:99828
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiecta...	OMIM:619752
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis	OMIM:620296
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Acquired Purpura Fulminans	Shock, Internal hemorrhage, Thrombocytopenia, Elevated circulating C-reactive protein concentrati...	ORPHA:49566
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ...	OMIM:185070
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Recurrent aphthous stomatitis, Panniculitis, Gastritis, Glomerulonephritis, Arthritis,...	ORPHA:3261
Immunodeficiency 27A	Pneumonia, Increased inflammatory response, Salmonella osteomyelitis	OMIM:209950
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary interstitial morphology	ORPHA:97287
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Sideroblastic anemia, Megaloblastic anemia...	OMIM:222300
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Pulmonary fibrosis	OMIM:612199
Wilson Disease	Depression, Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Thrombocytopenia...	ORPHA:905
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Cerebral...	OMIM:618886
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia...	OMIM:603554
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczematoid dermatitis, Psoriasiform dermatitis, Erythroderma, Pulmonary interstitial lymphocyte i...	OMIM:606367
Lysinuric Protein Intolerance	Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, C...	ORPHA:470
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp...	OMIM:616433
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Failure to thrive, Increased circulating ferriti...	OMIM:222700
Immunodeficiency 22	Failure to thrive, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia,...	OMIM:615758
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, ...	OMIM:251100
Letterer-Siwe Disease	Hepatosplenomegaly, Irritability, Neutropenia, Thrombocytopenia, Anemia	OMIM:246400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen,...	OMIM:223900
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Ciliary Dyskinesia, Primary, 2	Sinusitis, Recurrent respiratory infections, Bronchiectasis, Otitis media	OMIM:606763
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Glutamine Deficiency, Congenital	Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture	OMIM:610015
Necrotizing Enterocolitis	Hypotension, Shock, Leukocytosis, Bradycardia, Hyponatremia, Thrombocytopenia, Neutropenia, Small...	ORPHA:391673
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Tachycardia, Shock, Elevated circulating crea...	ORPHA:99826
Yellow Nail Syndrome	Rhinitis, Sinusitis, Recurrent respiratory infections, Pleuritis, Bronchiectasis, Neoplasm of the...	ORPHA:662
Schimke Immunoosseous Dysplasia	Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ischemic attack, Cer...	OMIM:242900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Increased total bilirubin, Elbow flexion contracture, Elevated circulatin...	OMIM:608836
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Failure to thrive, Congestive heart failure, Lymphopeni...	ORPHA:1830
Hermansky-Pudlak Syndrome 6	Recurrent upper respiratory tract infections, Pulmonary fibrosis	OMIM:614075
Overlap Myositis	Abnormal circulating lipid concentration, Abnormality of connective tissue, Leukopenia, Elevated ...	ORPHA:206572
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Sarcoidosis	Chylothorax, Parotitis, Emphysema, Abnormal pleura morphology, Pleural effusion, Maculopapular ex...	ORPHA:797
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Elevated circulating creatinine concentrat...	ORPHA:85450
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-...	ORPHA:457077
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Craniosynostosi...	OMIM:301056
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent aphthous stomatitis, Recurrent pneumonia, Bronchiectasis, Chronic oral candidiasis	OMIM:150550
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Muscle he...	ORPHA:903
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Recurrent sinopulmonary infections, Rhin...	ORPHA:486
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Zika Virus Disease	Retinal pigment epithelial mottling, Abnormal optic disc morphology, Thrombocytopenia, Macular at...	ORPHA:448237
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Sepsis In Premature Infants	Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Decreased body weight, Anemia, Neutropenia,...	ORPHA:90051
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617050
Dermatomyositis	Heliotrope rash, Skin rash, Lung adenocarcinoma, Myositis, Arthritis, Myocarditis, Abnormal pulmo...	ORPHA:221
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le...	OMIM:610377
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neut...	ORPHA:520
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Mirage Syndrome	Radial club hand, Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thrombocytopenia,...	OMIM:617053
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Failure to thrive, Pancytopenia, Splenomegaly, Elevated circulating creatine kinas...	OMIM:614576
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he...	OMIM:307200
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficiency	OMIM:602088
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrhythmia, Abnor...	ORPHA:906
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia	OMIM:619463
Transaldolase Deficiency	Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Telangiectasia, Thrombocytopen...	OMIM:606003
Hermansky-Pudlak Syndrome	Pulmonary fibrosis	ORPHA:79430
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Umbilical hernia, Thrombocytopenia, Ventricular arrhythmia, Increased mean...	OMIM:620475
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti...	OMIM:618131
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis	ORPHA:70578
Timothy Syndrome	Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B...	OMIM:601005
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abno...	OMIM:601399
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Psoriasi...	OMIM:616100
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Hematochezia, Cellulitis, Failure to thrive, Lymphocy...	OMIM:617718
Prolidase Deficiency	Failure to thrive, Splenomegaly, Diffuse telangiectasia, Thrombocytopenia, Anemia	OMIM:170100
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leukopenia, Noncompaction cardiom...	ORPHA:508542
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Umbilical hernia, Large for gestational age, Bradycardia, Absent...	ORPHA:226313
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Joint contracture of the 5th finger, Failure to thrive, Bradycardia	OMIM:614407
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Chronic rhinitis	OMIM:617577
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Depression, Cardiomyopathy, Arrhythmia, Bradycardia, Dementia	OMIM:609286
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin concentration, ...	ORPHA:95716
Congenital Erythropoietic Porphyria	Osteopenia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reti...	ORPHA:79277
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia	OMIM:614654
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Skin rash, Chronic oral candidiasis,...	ORPHA:911
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Hypertension	OMIM:174000
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Leukopenia...	OMIM:617303
Multiple Myeloma	Osteopenia, Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Anemia, Hyp...	ORPHA:29073
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Common Variable Immunodeficiency	Pneumonia, Chronic otitis media, Emphysema, Recurrent bronchitis, Otitis media, Recurrent respira...	ORPHA:1572
Von Willebrand Disease, Type 3	Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Panbronchiolitis, Diffuse	Bronchiectasis	OMIM:604809
Griscelli Syndrome	Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality...	ORPHA:381
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Mitral regurgitatio...	OMIM:612541
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Cardiomyopathy, Thrombocytopenia	OMIM:617710
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Hypoprotei...	ORPHA:167
Lujo Hemorrhagic Fever	Mental deterioration, Hypotension, Shock, Confusion, Lymphopenia, Leukopenia, Leukocytosis, Myoca...	ORPHA:319213
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior ...	OMIM:260400
Primary Sjögren Syndrome	Usual interstitial pneumonia, Arteritis, Bronchitis, Parotitis, Chronic active hepatitis, Lymphoc...	ORPHA:289390
Neuroblastoma	Increased circulating ferritin concentration, Irritability, Weight loss, Thrombocytopenia, Anemia...	ORPHA:635
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Inguinal hernia, Joint contracture, Bradycardia	OMIM:614498
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Vitreous hemorrhage, Thrombocytopenia, Remnants of the ...	OMIM:620185
Alpha-1-Antitrypsin Deficiency	Hepatitis, Bronchitis, Emphysema, Panniculitis, Bronchiectasis	ORPHA:60
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis	ORPHA:231154
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	ORPHA:331206
Brucellosis	Pneumonia, Hip osteoarthritis, Pulmonary granulomatosis, Arteritis, Bronchitis, Sacroiliac arthri...	ORPHA:1304
Immunodeficiency 92	Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Cholangitis	OMIM:619652
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Aminoaciduria, Arthrogryposis multiplex congenita, Failure to thrive, Thrombocytopenia, Conjugate...	OMIM:208085
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Irritability	OMIM:253270
Avian Influenza	Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukopenia, Elevated circulating creatine...	ORPHA:454836
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, M...	ORPHA:39812
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne...	ORPHA:540
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid ...	ORPHA:505248
Porphyria, Congenital Erythropoietic	Osteopenia, Joint contracture of the hand, Atypical scarring of skin, Elevated circulating uropor...	OMIM:263700
Thrombocytopenia 3	Decreased mean platelet volume, Epistaxis, Thrombocytopenia	OMIM:273900
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivitis sicca, T...	ORPHA:227990
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Lig4 Syndrome	Failure to thrive, Pancytopenia, Telangiectasia, Thrombocytopenia, Acute lymphoblastic leukemia, ...	OMIM:606593
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Thrombocytopenia, Bradycardia	OMIM:617397
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M...	ORPHA:139402
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Inguinal hernia	OMIM:614376
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Arteritis, Macrocytic an...	OMIM:301054
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large ves...	ORPHA:49041
Microsporidiosis	Pneumonia, Nephritis, Bronchiolitis, Lymphadenitis, Bronchitis, Hepatitis, Keratitis, Osteomyelit...	ORPHA:2552
Gaucher Disease	Hepatitis, Osteomyelitis, Osteoarthritis, Abnormal pulmonary interstitial morphology, Pulmonary f...	ORPHA:355
Illum Syndrome	Arthrogryposis multiplex congenita, Calcinosis, Bradycardia	OMIM:208155
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclitis, Kerato...	ORPHA:227982
Smith-Kingsmore Syndrome	Large for gestational age, Thrombocytopenia, Umbilical hernia	OMIM:616638
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Hypertension, Elevated circulating al...	OMIM:613095
Boutonneuse Fever	Vasculitis, Leukopenia, Thrombocytopenia	ORPHA:83313
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,...	ORPHA:37042
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia, Congestive heart failure	OMIM:611126
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Bacterial endocarditis	ORPHA:2072
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon...	ORPHA:199241
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pulmonary embolism, Budd-Chiari syndrome, Pancytopenia,...	ORPHA:447
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Failure to thrive in infancy, Camptodactyly, Thrombocytopenia, Anemia	OMIM:611209
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Conf...	ORPHA:466650
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Failure to thrive, Umbilical hernia, Abnormal circulatin...	ORPHA:90674
D-Glyceric Aciduria	Aminoaciduria, Failure to thrive, Bradycardia, Elevated circulating D-glyceric concentration, Non...	OMIM:220120
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retinal coloboma, Umbilical hernia, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Inguinal hern...	OMIM:620654
Yellow Fever	Shock, Elevated circulating creatinine concentration, Reduced left ventricular ejection fraction,...	ORPHA:99829
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocyto...	OMIM:614074
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Cognitive impairment, Thrombocytopeni...	ORPHA:93552
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creatinine conc...	OMIM:120330
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Al Amyloidosis	Abnormal pulmonary interstitial morphology, Pulmonary interstitial high-resolution computed tomog...	ORPHA:85443
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Portal hyperte...	OMIM:251880
Braddock-Carey Syndrome 1	Camptodactyly, Enamel hypoplasia, Thrombocytopenia	OMIM:619980
Oligomeganephronia	Optic disc coloboma, Elevated circulating creatinine concentration, Congenital diaphragmatic hern...	ORPHA:2260
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection...	OMIM:619632
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Aspiration pneumonia	OMIM:618253
Hellp Syndrome	Hypotension, Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Internal...	ORPHA:244242
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration, Hypertension	OMIM:123550
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblast...	OMIM:557000
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Emotional lability, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage, Bundle ...	ORPHA:99827
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Anemia, Thrombocytopenia, Elevated hepatic iron concentration	OMIM:614946
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recurrent epi...	OMIM:214500
Pseudo-Torch Syndrome 1	Failure to thrive, Splenomegaly, Thrombocytopenia, Umbilical hernia	OMIM:251290
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Anemia, Pulmonary arterial hypertension, Thrombocytopenia, Dementia, ...	ORPHA:77261
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Retinal detachment, Thromb...	ORPHA:79324
Dyskeratosis Congenita, X-Linked	Conjunctivitis, Pulmonary fibrosis, Blepharitis	OMIM:305000
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Bcard Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co...	OMIM:612394
Farber Disease	Macular degeneration, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Anemia, Osteoporos...	ORPHA:333
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Cyclic Neutropenia	Cellulitis, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Decreased eosinophil count	ORPHA:2686
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Amelogenesis imperfecta, Thrombocytopenia, Hypocalcification of dental enamel, Hemo...	ORPHA:169090
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleural effusio...	ORPHA:31204
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:620484
Acute Radiation Syndrome	Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Kaposiform Lymphangiomatosis	Epistaxis, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia...	ORPHA:464329
Hoyeraal-Hreidarsson Syndrome	Anemia, Failure to thrive, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia, Hip contracture, Achilles tendon contracture, Congenital fi...	OMIM:620351
Good Syndrome	Anemia, Fatigable weakness, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent respi...	OMIM:601495
Omenn Syndrome	Pneumonia, Erythroderma, Thyroiditis	ORPHA:39041
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Chronic mucocutaneous candidiasis, Skin rash, Recurrent cutaneous fungal infections, R...	ORPHA:276
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia	ORPHA:79264
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Atypical or prolonged hepatitis, Sinusitis, Recurrent streptoco...	ORPHA:83471
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Decreased body weight, Anemia, Thrombocytopenia, Progressive ne...	OMIM:608013
Senior-Loken Syndrome 1	Anemia, Elevated circulating creatinine concentration	OMIM:266900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Wilson Disease	Hypouricemia, Aminoaciduria, Hypoalbuminemia, Chondrocalcinosis, Osteomalacia, Hemolytic anemia, ...	OMIM:277900
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:600901
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Depression, Abnormal circulating lipid concentration, Decreased HDL cholesterol conce...	ORPHA:77293
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Mental deterioration, Thrombocytopenia, Normochromic anemia	OMIM:254900
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:618458
Blue Rubber Bleb Nevus	Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Alport Syndrome 1, X-Linked	Anterior lenticonus, Hypertension, Lenticonus, Thrombocytopenia	OMIM:301050
Tetanus	Tachycardia, Hypertension, Bradycardia, Elevated circulating creatine kinase concentration	ORPHA:3299
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Kawasaki Disease	Hepatitis, Conjunctivitis, Skin rash, Cholecystitis, Arthritis, Recurrent pharyngitis, Myocarditi...	ORPHA:2331
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis	ORPHA:3337
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Gaucher Disease, Type Ii	Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Progressive neurologic deterioration	OMIM:230900
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Increased circulating ferritin concentration, Hypertrophic cardiomyopat...	OMIM:615846
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infect...	OMIM:600802
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Microphthalmia/Coloboma 12	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys...	OMIM:158310
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Thrombocytopenia	ORPHA:96181
Mitochondrial Complex I Deficiency, Nuclear Type 37	Inguinal hernia, Pulmonary arterial hypertension, Failure to thrive, Bradycardia	OMIM:619272
Thrombocytopenia 1	Decreased mean platelet volume, Epistaxis, Congenital thrombocytopenia, Joint hemorrhage, Intermi...	OMIM:313900
Diamond-Blackfan Anemia 21	Aortic regurgitation, Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:227650
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Otitis media, Sinusitis, Recurrent lower...	OMIM:613179
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Large for gestational age, Thrombocytopenia, Pulmonic stenosis	OMIM:610733
Glossopharyngeal Neuralgia	Depression, Syncope, Weight loss, Bradycardia, Jaw claudication	ORPHA:221098
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Takenouchi-Kosaki Syndrome	Optic atrophy, Inguinal hernia, Thrombocytopenia, Camptodactyly, Pulmonic stenosis, Increased mea...	OMIM:616737
Tick-Borne Encephalitis	Depression, Leukopenia, Leukocytosis, Diminished ability to concentrate, Cognitive impairment, El...	ORPHA:297
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Flexion contrac...	OMIM:227645
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Leukopenia, Thrombocytopenia, Neutropenia, Flexion contracture	OMIM:616271
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Subarachnoid hemorrhage, Melen...	ORPHA:853
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased heart rate variability, Decreased body weight, Attention deficit hyperactivity disorder...	OMIM:619005
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Failure to thrive, Elevated circulating creatinine concentration, Hy...	ORPHA:411634
Shigellosis	Hypovolemic shock, Microangiopathic hemolytic anemia, Failure to thrive in infancy, Leukocytosis,...	ORPHA:810
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating cr...	ORPHA:2785
Congenital Syphilis	Optic atrophy, Periostitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, M...	ORPHA:499009
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Lymphopenia, Decreased CD4:CD8 ratio...	OMIM:619573
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Leukopenia, Portal hypertension, Pulmonary arteri...	ORPHA:974
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections	ORPHA:98905
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Lymphopenia, Leukopenia, Thrombocytopenia, Melena	ORPHA:319218
Ivic Syndrome	Arrhythmia, Leukocytosis, Thrombocytopenia	ORPHA:2307
Proteasome-Associated Autoinflammatory Syndrome 1	Failure to thrive, Congestive heart failure, Microcytic anemia, Camptodactyly of finger, Elbow fl...	OMIM:256040
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, ...	ORPHA:90673
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Congestive heart failure, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemi...	ORPHA:391487
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Failure to thrive, Tricuspid regurgitation, Leukopenia, Sple...	OMIM:300972
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Splenomegaly, Thrombocytopenia, Neutropenia, Hemolytic anemia	OMIM:308230
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Weight loss, Thrombocytopenia, Anemia, Abnormality of neutrophils, S...	ORPHA:36426
Pearson Syndrome	Pigmentary retinopathy, Cardiomyopathy, Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytos...	ORPHA:699
Adult-Onset Still Disease	Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgia/arthritis, Myocarditis, Ple...	ORPHA:829
Aicardi-Goutieres Syndrome 1	Vasculitis, Cardiomyopathy, Splenomegaly, Thrombocytopenia	OMIM:225750
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia	ORPHA:79243
Alpha-Mannosidosis, Adult Form	Pneumonia	ORPHA:309288
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Recurrent upper respiratory tract infections, Otitis media	OMIM:602450
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation	ORPHA:747
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Failure to th...	OMIM:248250
Cryptococcosis	Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatitis, Perit...	ORPHA:1546
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Sudden cardiac d...	ORPHA:537
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Bradycardia	OMIM:610768
Zygomycosis	Nephritis, Hepatitis, Atelectasis, Fasciitis, Pleural effusion, Infectious encephalitis, Pustule,...	ORPHA:73263
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Failure to thrive in infancy, Camptodactyly, Thrombocytopenia	ORPHA:261323
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Normocytic anemia, Chorioretinal scar, Elevated circulating creatinine concentrati...	ORPHA:91500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of the hyaloid v...	OMIM:614643
Mohr-Tranebjaerg Syndrome	Aspiration pneumonia	ORPHA:52368
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Portal hypertension, Absence of subcutan...	OMIM:620005
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T cells, Lymphope...	OMIM:301000
Fanconi Anemia, Complementation Group D2	Pancytopenia, Attention deficit hyperactivity disorder, Reticulocytopenia, Anemia, Neutropenia, T...	OMIM:227646
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:603467
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s...	OMIM:615067
Ogden Syndrome	Polycythemia, Umbilical hernia, Torsade de pointes, Premature atrial contractions, Hyperbilirubin...	OMIM:300855
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Decre...	ORPHA:2298
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Hemorrhage of the eye, Tractional retinal detachme...	ORPHA:91495
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juvenile rheumatoid...	OMIM:607944
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Failure to thrive, Neutropenia	OMIM:617941
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Congenital foot contractures, Bradycardia	ORPHA:565624
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia, Hyperglycinemia, Hypernatremia, Irritability	OMIM:620423
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Hardikar Syndrome	Pigmentary retinopathy, Failure to thrive, Umbilical hernia, Hypersplenism, Hepatosplenomegaly, H...	OMIM:301068
Spondyloenchondrodysplasia	Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis	ORPHA:1855
Lathosterolosis	Abnormal platelet morphology, Failure to thrive, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Atypical scarring of skin, Depression, Failure to thrive, Umbilical hernia, Abnorm...	ORPHA:534
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Portal hypertension, Hematemesis, Th...	ORPHA:480520
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Kikuchi-Fujimoto Disease	Malar rash, Pleural effusion, Skin rash, Pustule, Myocarditis, Abnormal pulmonary interstitial mo...	ORPHA:50918
Jacobsen Syndrome	Optic atrophy, Failure to thrive, Chorioretinal coloboma, Thrombocytopenia, Flexion contracture, ...	OMIM:147791
Acute Liver Failure	Gastrointestinal hemorrhage, Depression, Hypotension, Shock, Confusion, Hyperammonemia, Emotional...	ORPHA:90062
Coccidioidomycosis	Pneumonia, Folliculitis, Exudative pleural effusion, Morbilliform rash, Osteomyelitis, Skin rash,...	ORPHA:228123
Listeriosis	Pneumonia, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious encephalitis, Pust...	ORPHA:533
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Otitis media, Skin rash, Rhinitis, Cheilitis,...	ORPHA:125
Liver Disease, Severe Congenital	Hyperbilirubinemia, Hypoproteinemia, Systolic heart murmur, Aminoaciduria, Short attention span, ...	OMIM:619991
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension	OMIM:614653
Sheehan Syndrome	Obesity, Palpitations, Hyponatremia, Orthostatic hypotension, Bradycardia, Normochromic anemia	ORPHA:91355
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	ORPHA:31150
Nijmegen Breakage Syndrome	Mental deterioration, Acute leukemia, Autoimmune hemolytic anemia, Attention deficit hyperactivit...	ORPHA:647
Down Syndrome	Polycythemia, Umbilical hernia, Obesity, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrop...	ORPHA:870
Dyskeratosis Congenita	Coarse metaphyseal trabecularization, Splenomegaly, Telangiectasia of the skin, Thrombocytopenia,...	ORPHA:1775
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Rift Valley Fever	Retinal hemorrhage, Hematemesis, Thrombocytopenia, Melena, Anemia	ORPHA:319251
Gm1 Gangliosidosis	Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia	ORPHA:354
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Autoinflammatory Disease, Systemic, With Vasculitis	Failure to thrive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Anemia...	OMIM:620376
Dubowitz Syndrome	Attention deficit hyperactivity disorder, Thrombocytopenia, Anemia, Craniosynostosis, Abnormality...	ORPHA:235
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin	ORPHA:26793
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia	ORPHA:572798
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia, Anemia, Heart murmur, Intracranial hemorrhage	ORPHA:163979
Rajab Interstitial Lung Disease With Brain Calcifications 1	Emphysema, Abnormal pulmonary interstitial morphology	OMIM:613658
Leptospirosis	Hypotension, Pulmonary hemorrhage, Arrhythmia, Papilledema, First degree atrioventricular block, ...	ORPHA:509
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, Thrombocytopenia	ORPHA:79330
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia	OMIM:619167
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Bronchitis, Pustular rash, Hepatitis, Recurrent otitis media, Osteomyelitis, Skin rash...	OMIM:619381
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Depression, Abnormality of thrombocytes, Failur...	ORPHA:567
Chronic Graft Versus Host Disease	Urinary bladder inflammation, Fasciitis, Pleural effusion, Pneumothorax, Keratoconjunctivitis sic...	ORPHA:99921
Fibular Hemimelia	Craniosynostosis, Abnormal bone ossification, Thrombocytopenia	ORPHA:93323
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl...	ORPHA:48435
Systemic Lupus Erythematosus	Depression, Leukopenia, Hypertension, Weight loss, Raynaud phenomenon, Thrombocytopenia, Hemolyti...	ORPHA:536
Mercury Poisoning	Interstitial pneumonitis	ORPHA:330021
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration, Hypertension	ORPHA:730
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Aortic regurgitation, Bidirectional shunt, Osteopenia, Failure to thrive, Increa...	OMIM:619534
Leukocyte Adhesion Deficiency	Pneumonia, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Respiratory tract infection, ...	ORPHA:2968
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia	OMIM:300472
Cornelia De Lange Syndrome 1	Optic atrophy, Optic disc coloboma, Elbow flexion contracture, Inguinal hernia, Congenital diaphr...	OMIM:122470
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Hyphema, Remnants of the hyaloid vascular system	OMIM:221900
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Autoimmune hemolytic anemia, Conjunctival telangiectasia, Th...	OMIM:251260
Deeah Syndrome	Decreased heart rate variability, Decreased hemoglobin concentration, Thrombocytopenia, Decreased...	OMIM:619004
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Leukocytosis, Hypocalcemia, Hyponatremia, Hypertension, Thrombocytopenia, My...	ORPHA:544482
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Hennekam-Beemer Syndrome	Pneumonia	ORPHA:2135
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Systolic heart murmur	OMIM:617478
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia	ORPHA:1018
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Encephalitis Lethargica	Mental deterioration, Bradycardia	ORPHA:83600
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Truncal obesity, Thrombocytopenia, Limb joint contracture, Flexion contracture	OMIM:301072
Proximal Spinal Muscular Atrophy	Elbow flexion contracture, Multiple joint contractures, Knee flexion contracture, Bradycardia, Fl...	ORPHA:70
Pierson Syndrome	Hypertension, Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Po...	OMIM:609049
Igg4-Related Kidney Disease	Arteritis, Decreased retinol-binding protein level, Elevated circulating creatinine concentration...	ORPHA:449395
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Inguinal hernia, Thrombocytopenia, Camptodactyly, Flexion contracture, Increased m...	ORPHA:487796
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Osteogenesis Imperfecta	Aortic regurgitation, Dentinogenesis imperfecta, Osteopenia, Umbilical hernia, Abnormal dental en...	ORPHA:666
Bohring-Opitz Syndrome	Optic atrophy, Congenital contracture, Severe failure to thrive, Retinal atrophy, Coloboma, Brady...	ORPHA:97297
Fanconi Anemia	Umbilical hernia, Hypertrophic cardiomyopathy, Leukopenia, Weight loss, Thrombocytopenia, Anemia,...	ORPHA:84
Jacobsen Syndrome	Aortic valve stenosis, Inguinal hernia, Attention deficit hyperactivity disorder, Thrombocytopeni...	ORPHA:2308
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple j...	ORPHA:51
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypersplenism, Hepatosplenomegaly, Portal hypertension, Splenomegaly...	ORPHA:731
Geleophysic Dysplasia 3	Pneumonia	OMIM:617809
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Respiratory tract infection, Infectious encephalitis, Pustule, Sinusitis	ORPHA:68
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Congenital Disorder Of Glycosylation, Type Iiw	Failure to thrive, Microcytic anemia, Splenomegaly, Inguinal hernia, Thrombocytopenia, Anemia, Os...	OMIM:619525
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration, Pulmonary hemorrhage, Arteritis, Small vessel vasc...	ORPHA:93126
Chops Syndrome	Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Failure to thrive, Enamel hypoplasia, Osteoporosis, Bradycardia, Anemia, ...	ORPHA:79404
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia	ORPHA:90790
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Recurrent aspiration pneumonia	ORPHA:73230
Microphthalmia, Syndromic 2	Aortic valve stenosis, Umbilical hernia, Decreased body weight, Contracture of the proximal inter...	OMIM:300166
Mucopolysaccharidosis Type 3	Aspiration pneumonia, Otitis media, Respiratory tract infection, Recurrent sinopulmonary infectio...	ORPHA:581
Gm1 Gangliosidosis Type 1	Aspiration pneumonia	ORPHA:79255
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections	OMIM:253200
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ...	OMIM:130050
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Roberts Syndrome	Knee flexion contracture, Wrist flexion contracture, Progressive flexion contractures, Thrombocyt...	ORPHA:3103
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent aspiration pneumonia, Psoriasiform dermatitis, Arthritis, Chronic oral candidiasis	ORPHA:221139
Cholera	Aspiration pneumonia	ORPHA:173
Alpha-Mannosidosis, Infantile Form	Pneumonia, Otitis media	ORPHA:309282
Tay-Sachs Disease	Aspiration pneumonia	ORPHA:845
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Midline central nervous system lipomas, Remnants of the hyaloi...	OMIM:603671
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:274000
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo...	OMIM:233450
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Overweight, Opti...	ORPHA:226307
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Umbilical hernia, Increased circulating thyroglobulin concentration, Bradycardia	OMIM:218700
Marshall-Smith Syndrome	Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia	OMIM:602535
Digeorge Syndrome	Umbilical hernia, Obesity, Splenomegaly, Hypocalcemia, Inguinal hernia, Hypoplasia of the thymus,...	OMIM:188400
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection	ORPHA:79138
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent aspiration pneumonia, Recurrent respiratory infections	ORPHA:397715
Full Nf2-Related Schwannomatosis	Memory impairment, Remnants of the hyaloid vascular system	ORPHA:637
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun...	ORPHA:707
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Weight loss, Thrombocytopenia	ORPHA:79078
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neutropenia, Bradycardia	OMIM:617248
Neuroocular Syndrome 1	Umbilical hernia, Attention deficit hyperactivity disorder, Remnants of the hyaloid vascular syst...	OMIM:619539
Norrie Disease	Optic atrophy, Failure to thrive, Irritability, Attention deficit hyperactivity disorder, Cachexi...	ORPHA:649
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Skin rash, Keratoconjunctivitis sicca...	ORPHA:95455
Atrial Septal Defect, Ostium Secundum Type	Pneumonia	ORPHA:99103
Miller-Dieker Lissencephaly Syndrome	Recurrent aspiration pneumonia	OMIM:247200
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia	ORPHA:1465
Degcags Syndrome	Pneumonia, Rhinitis	OMIM:619488
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis	ORPHA:280633
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia	OMIM:619482
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Congenital diaphragmatic hernia, Inguinal hernia, Scarring, Pulmonary ar...	OMIM:614437
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia	ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353281
Arboleda-Tham Syndrome	Recurrent respiratory infections, Recurrent otitis media, Conjunctivitis, Recurrent aspiration pn...	OMIM:616268
Holoprosencephaly 2	Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aspiration pneumonia	ORPHA:444077
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Recurrent respiratory infections	OMIM:264090
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353277
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Failure to thrive in infancy, Hypertrophic cardiomyopathy, Ameg...	OMIM:163950
Niemann-Pick Disease Type C	Abnormal lung morphology, Aspiration pneumonia	ORPHA:646
Fontaine Progeroid Syndrome	Recurrent aspiration pneumonia, Pneumothorax, Pulmonary hypoplasia	OMIM:612289
Alobar Holoprosencephaly	Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Aspiration pneumonia	ORPHA:220386
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501
Doors Syndrome	Aspiration pneumonia	ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Aspiration pneumonia	ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4	Septic arthritis, Osteomyelitis, Recurrent aspiration pneumonia, Fasciitis	ORPHA:642
Kabuki Syndrome 1	Recurrent otitis media, Recurrent aspiration pneumonia	OMIM:147920
Yunis-Varon Syndrome	Aspiration pneumonia	OMIM:216340
Pmm2-Cdg	Pericarditis, Aspiration pneumonia	ORPHA:79318

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 Usp38

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 Usp38.

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

Title	Journal	IMPC Allele	PubMed ID
USP38 critically promotes asthmatic pathogenesis by stabilizing JunB protein.	The Journal of experimental medicine (September 2018)	Usp38^{tm1c(EUCOMM)Hmgu} Usp38^{tm1a(EUCOMM)Hmgu}	30224386

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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
Usp38^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Usp38^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Usp38^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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Gene: Usp38 MGI:1922091

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

Echo

Embryo LacZ

X-ray

Auditory Brain Stem Response

Human diseases caused by Usp38 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data