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Gene: Adgrf5 MGI:2182928

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Gene Summary

Name:
adhesion G protein-coupled receptor F5
Synonyms:
8430401C09Rik,  Gpr116

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Adgrf5tm1b(KOMP)Wtsi HOM Early adult 4.76×10-06
decreased mean corpuscular volume Adgrf5tm1b(KOMP)Wtsi HOM Early adult 5.30×10-08
decreased hematocrit Adgrf5tm1b(KOMP)Wtsi HOM Early adult 1.04×10-05
decreased bone mineral content Adgrf5tm1b(KOMP)Wtsi HOM Early adult 4.43×10-05
decreased lymphocyte cell number Adgrf5tm1b(KOMP)Wtsi HOM Early adult 1.24×10-05
decreased hemoglobin content Adgrf5tm1b(KOMP)Wtsi HOM Early adult 1.10×10-15
decreased mean corpuscular hemoglobin Adgrf5tm1b(KOMP)Wtsi HOM Early adult 1.46×10-19
decreased monocyte cell number Adgrf5tm1b(KOMP)Wtsi HOM   Early adult 9.52×10-05
decreased leukocyte cell number Adgrf5tm1b(KOMP)Wtsi HOM Early adult 7.91×10-07
decreased circulating cholesterol level Adgrf5tm1b(KOMP)Wtsi HOM   Early adult 1.69×10-05
decreased bone mineral density Adgrf5tm1b(KOMP)Wtsi HOM Early adult 2.89×10-09
increased red blood cell distribution width Adgrf5tm1b(KOMP)Wtsi HOM   Early adult 7.31×10-07
increased fasting circulating glucose level Adgrf5tm1b(KOMP)Wtsi HOM Early adult 1.73×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Histopathology

Images

8 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Human diseases caused by Adgrf5 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.

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

The table below shows human diseases predicted to be associated to Adgrf5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea, Intraalveolar phospholipid accumulation, Failure to thrive OMIM:300770
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation OMIM:614370
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Failure to thrive,... OMIM:610913
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai... OMIM:265120
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin... OMIM:616414
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Bronchiectasis, Splenomegaly, Chronic bronchitis OMIM:613490
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph... OMIM:263000
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Dyspnea, Recurre... OMIM:610910
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hype... ORPHA:70589
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Splenomegaly, Leukocyt... OMIM:618042
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Emphysema, Lymphopenia... OMIM:242700
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Hepatomegaly, Abnormal pulmonary interst... OMIM:612387
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss, Abnormal circulating ... ORPHA:747
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Nasal flaring ORPHA:70587
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Lymphopenia, Recurrent viral upper respiratory t... OMIM:619773
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Lymphopenia, Thrombocytopenia, Anemia, Pulmonary fibrosis OMIM:620365
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Weight loss, Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Leukopenia, Pleural effusion, Leukocytosis, Tachypnea, Pneumotho... ORPHA:36238
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Plasmacytosis ORPHA:60026
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Tachypnea, Acute infectious pneumonia ORPHA:264675
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
High Altitude Pulmonary Edema
Leukocytosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea ORPHA:330012
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Failure to thrive, Anemia, Thrombocytosis, Dyspnea, Abno... OMIM:615486
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma ORPHA:64741
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Hypophosphatasia
Anemia, Emphysema ORPHA:436
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... ORPHA:178320
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly,... OMIM:620565
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Tachypnea, Recurrent respira... OMIM:610978
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Bronchiectasis, Bronchitis ORPHA:60
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lower respiratory t... OMIM:619632
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Failure to thrive, Hemophagocytosis, Increased circulati... OMIM:222700
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Apnea, Tachypnea, Pneumothorax, Recurrent respiratory infec... ORPHA:2257
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Common Variable Immunodeficiency
Pneumonia, Emphysema, Lymphopenia, Splenomegaly, Recurrent bronchitis, Recurrent respiratory infe... ORPHA:1572
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Avian Influenza
Pneumonia, Respiratory distress, Lymphopenia, Leukopenia, Pleural effusion, Tachypnea, Pneumothor... ORPHA:454836
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Splenomegaly, Abnormal pattern of respira... ORPHA:77260
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Flexion contracture, Anisocytosis OMIM:604273
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Cardiomyopathy, Dilated, 2H
Tachypnea OMIM:620203
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Failure to thrive, Hemophagocytosis, Increased circulati... ORPHA:470
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hypertriglyceridemia, Dyspnea, Ab... OMIM:607616
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hypocomplementemic Urticarial Vasculitis
Emphysema, Hepatomegaly, Pleural effusion, Splenomegaly ORPHA:36412
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Slc35A1-Cdg
Pneumonia, Giant platelets, Respiratory distress, Pulmonary hemorrhage, Abnormal platelet granule... ORPHA:238459
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Apnea, Aspiration pneumonia ORPHA:79264
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Propionic Acidemia
Pancytopenia, Apnea, Tachypnea, Neutropenia, Thrombocytopenia, Anemia OMIM:606054
Oslam Syndrome
Radioulnar synostosis, Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Thrombocytopenia ORPHA:79242
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Tachypnea, Thrombocytosis, Anemia, Recurrent respiratory infections, Pul... OMIM:615934
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... ORPHA:99886
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Joubert Syndrome 9
Episodic tachypnea, Apnea OMIM:612285
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Succinic Acidemia
Respiratory distress OMIM:600335
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
C1Q Deficiency 2
Anemia, Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Acute infectious pneumonia ORPHA:140896
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea OMIM:614299
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis ORPHA:411703
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Cryptogenic Organizing Pneumonia
Respiratory distress, Leukocytosis, Weight loss, Pneumothorax, Elevated circulating C-reactive pr... ORPHA:1302
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Perching Syndrome
Respiratory distress OMIM:617055
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Malaria
Respiratory distress, Anemia, Thrombocytopenia ORPHA:673
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis ORPHA:2582
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Atypical Rett Syndrome
Episodic tachypnea, Abnormal pattern of respiration, Sudden episodic apnea ORPHA:3095
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract... ORPHA:60025
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypereosinophilia, Leukocytosis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachypnea, Pleural effusion ORPHA:542323
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Congenital Erythropoietic Porphyria
Osteopenia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reti... ORPHA:79277
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Anemia, Tachypnea OMIM:615838
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Citrullinemia Type I
Tachypnea ORPHA:247525
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Pneumonia ORPHA:26793
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... ORPHA:96180
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia ORPHA:2140
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Exertional dyspnea, Recurrent respirator... ORPHA:3348
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Poikilocytosis, Tac... OMIM:618278
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hypocholesterolemia, Splenomegaly, Steatorrhea, Conjugated hyperbilirubinemia OMIM:607765
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight OMIM:300580
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:614399
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Acanthocytosis ORPHA:71
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Bacterial Toxic-Shock Syndrome
Pneumonia, Respiratory distress, Respiratory tract infection, Abscess, Increased circulating myel... ORPHA:36234
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis ORPHA:254361
Joubert Syndrome 3
Episodic tachypnea, Central apnea OMIM:608629
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Coronal craniosynostosis, Decreased mean corpuscular volume, Increased... OMIM:616943
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Meconium Aspiration Syndrome
Respiratory distress, Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hypermobility, Reduced bone mineral... OMIM:620210
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia ORPHA:596
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse... OMIM:613177
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea OMIM:604320
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Dyspnea ORPHA:2357
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... ORPHA:538
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea OMIM:613320
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Pulmonary hypoplasia OMIM:616733
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Failure to thrive OMIM:612075
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis OMIM:612562
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea, Anomalous pulmonary venous return ORPHA:860
Laryngomalacia
Respiratory distress OMIM:150280
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive ORPHA:26792
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea ORPHA:3426
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Splenomegaly ORPHA:2414
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis, Absent o... OMIM:244400
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Respiratory distress, Absent inner and outer dynein arms, Recurrent respiratory ... OMIM:606763
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Sarcoidosis, Susceptibility To, 1
Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Hepatomegaly, Abnormal pulmonary interst... OMIM:181000
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Respiratory distress, Pleural effusion, Leukocytosis... ORPHA:3392
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Holocarboxylase Synthetase Deficiency
Hyperventilation, Tachypnea, Thrombocytopenia OMIM:253270
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia ORPHA:254875
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Osteopenia, Aplastic anemia, Increased mean corpuscular volume... ORPHA:811
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Abnor... ORPHA:133
Stuve-Wiedemann Syndrome 2
Respiratory distress, Thrombocytopenia OMIM:619751
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Tachypnea, Central apnea, Recurrent respiratory infections ORPHA:79345
Coronary Arterial Fistula
Tachypnea, Exertional dyspnea, Orthopnea ORPHA:2041
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... OMIM:619644
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Cholera
Hyperventilation, Tachypnea, Aspiration pneumonia ORPHA:173
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Failure to thrive OMIM:613561
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respiratory infect... ORPHA:99106
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Weight loss, Neoplasm of the lung ORPHA:142
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea OMIM:201475
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli... ORPHA:14
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Osteoporosis OMIM:266510
Ethylene Glycol Poisoning
Pulmonary edema, Tachypnea, Abnormal pattern of respiration, Episodic respiratory distress ORPHA:31826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia ORPHA:79312
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea, Anemia, Splenomegaly OMIM:239200
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Failure to thrive OMIM:616974
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly OMIM:608776
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Jo... OMIM:617052
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Apnea, Leukocytosis, Tachypnea, Thrombocytosis, Anemia ORPHA:20
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections OMIM:616835
Nocardiosis
Pneumonia, Brain abscess, Cutaneous abscess, Emphysema, Pleural effusion, Pneumothorax, Pleuritis... ORPHA:31204
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Tachypnea, Apnea, Recurrent respiratory infections ORPHA:397715
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Beta-Ketothiolase Deficiency
Tachypnea, Leukocytosis, Thrombocytosis ORPHA:134
Ellis Van Creveld Syndrome
Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs ORPHA:289
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions, Recurrent pneumonia ORPHA:1329
Biotinidase Deficiency
Tachypnea, Apnea, Splenomegaly OMIM:253260
Joubert Syndrome
Episodic tachypnea, Apnea, Abnormal pattern of respiration ORPHA:475
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Smooth Muscle Dysfunction Syndrome
Tachypnea, Pulmonary artery dilatation OMIM:613834
Primary Ciliary Dyskinesia
Nasal polyposis, Polysplenia, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection,... ORPHA:244
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Congenital Tricuspid Valve Dysplasia
Tachypnea, Anomalous pulmonary venous return ORPHA:555874
Cocaine Intoxication
Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary edema, Tachypnea, Pneumothorax, Hype... ORPHA:90068
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Camptodactyly, Thromb... ORPHA:79324
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea ORPHA:2759
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... OMIM:130050
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Sarcoidosis
Chylothorax, Emphysema, Leukopenia, Abnormal pleura morphology, Pleural effusion, Increased T cel... ORPHA:797
Squalene Synthase Deficiency
Elbow flexion contracture, Hypocholesterolemia, Knee flexion contracture, Decreased LDL cholester... OMIM:618156
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia ORPHA:31150
Stt3B-Cdg
Respiratory distress, Failure to thrive, Thrombocytopenia ORPHA:370924
Immunodeficiency 44
Lymphopenia OMIM:616636
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Hypocholesterolemia, Thrombocytosis, Steatorrhea, Flexion contracture OMIM:212065
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia OMIM:620443
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Thrombocytopenia OMIM:615597
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Abscess, Splenomegaly, Neutrophilia, Elevated... OMIM:612852
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis OMIM:300219
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... ORPHA:552
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Leukocytosis, Pleural effusion, Hepatome... OMIM:620233
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Congenital Enterovirus Infection
Hypoalbuminemia, Respiratory distress, Leukopenia, Pleural effusion, Leukocytosis, Abnormal macro... ORPHA:292
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... OMIM:260400
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo... OMIM:233450
Serotonin Syndrome
Tachypnea ORPHA:43116
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin ORPHA:98791
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Megaloblastic anemia, Failure to thrive, Neutropenia OMIM:250940
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Granuloma, Atelectasis, Impaired oxidative burst, Pleural effusion, Splenome... OMIM:306400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Abnormal pulmonary interstitial morphology, Pancytopenia, Emphysema OMIM:613658
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Splenomegaly, Failure to thrive, Elevated circulating creatine kinase conce... OMIM:608799
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Abnorm... ORPHA:51636
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Meier-Gorlin Syndrome 1
Emphysema OMIM:224690
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Polysplenia OMIM:612776
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150
Fabry Disease
Anemia, Left ventricular hypertrophy, Emphysema ORPHA:324
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Elevated circulating creatine kinase concentration OMIM:615042
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Anomalous origin of one pulmonary artery fro... ORPHA:3384
Lymphatic Malformation 7
Chylothorax, Respiratory distress, Pleural effusion, Pulmonary edema, Anemia OMIM:617300
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Double Outlet Left Ventricle
Pulmonary artery stenosis, Tachypnea ORPHA:3427
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Mildly elevated creatine kinase ORPHA:1143
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia OMIM:202650
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Joint hypermobility, Persistence of hemoglobin F OMIM:617101
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... ORPHA:760
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia OMIM:617895
Acquired Methemoglobinemia
Respiratory distress, Methemoglobinemia, Dyspnea ORPHA:464453
Mirage Syndrome
Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, ... OMIM:617053
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Choanal Atresia
Respiratory distress, Recurrent respiratory infections ORPHA:137914
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Abnormal circulating creatine kinase concentration, Elevated circulating cr... OMIM:620375
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Histiocytoid Cardiomyopathy
Pulmonary edema, Tachypnea ORPHA:137675
Joubert Syndrome 2
Episodic tachypnea, Central apnea OMIM:608091
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Aortopulmonary window ORPHA:2299
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Arthritis, Flexion con... OMIM:617591
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Abnormal or... ORPHA:2298
Autosomal Dominant Cutis Laxa
Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis ORPHA:90348
Lead Poisoning
Imbalanced hemoglobin synthesis, Cranial hyperostosis, Increased LDL cholesterol concentration, A... ORPHA:330015
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Eosinophilia, Atelectasis ORPHA:2314
Marfan Syndrome
Emphysema, Pneumothorax, Pulmonary artery dilatation OMIM:154700
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Increased susceptibility to fr... OMIM:619752
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Lym... ORPHA:90363
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Carnitine Deficiency, Systemic Primary
Respiratory distress, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:212140
Joubert Syndrome 1
Episodic tachypnea, Central apnea OMIM:213300
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Failure to thrive, Elevated circulating c... ORPHA:329178
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections OMIM:211530
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Reduced bone mineral density ORPHA:935
Pyruvate Carboxylase Deficiency
Tachypnea, Abnormal pattern of respiration ORPHA:3008
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Arima Syndrome
Dyspnea, Tachypnea, Anemia OMIM:243910
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Granulocytopenia, Macrocytic anemia OMIM:606164
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Apnea ORPHA:2754
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating inosi... OMIM:613179
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Respiratory distress, Leukopenia, Splenomegaly, Anemia, Neutropenia, Thrombo... OMIM:617303
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Respiratory distress, Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation ORPHA:558
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Farber Disease
Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis, Respiratory distres... ORPHA:333
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation OMIM:614437
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... ORPHA:185
Malignant Hyperthermia Of Anesthesia
Tachypnea ORPHA:423
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Immunodeficiency 49