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Gene: Snx5 MGI:1916428

Gene Summary

Name:

sorting nexin 5

Synonyms:

1810032P22Rik, D2Ertd52e, 0910001N05Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating iron level	Snx5^Snx5	HOM	Early adult	5.54×10^-07
decreased blood urea nitrogen level	Snx5^Snx5	HOM	Early adult	6.58×10^-05
increased hemoglobin content	Snx5^Snx5	HOM	Early adult	2.43×10^-06
decreased circulating glucose level	Snx5^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.70×10^-06
decreased circulating glucose level	Snx5^Snx5	HOM	Early adult	7.84×10^-05
abnormal vertebrae morphology	Snx5^Snx5	HOM	Early adult	7.31×10^-08
decreased hematocrit	Snx5^Snx5	HOM	Early adult	4.46×10^-05
decreased circulating potassium level	Snx5^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.33×10^-05
decreased mean corpuscular volume	Snx5^Snx5	HOM	Early adult	5.03×10^-06

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

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Snx5^{tm1a(KOMP)Wtsi}
head, HOM, Male, WTSI

Snx5^{tm1a(KOMP)Wtsi}
forearm, HOM, Male, WTSI

Snx5^{tm1a(KOMP)Wtsi}
body, HOM, Male, WTSI

Snx5^{tm1a(KOMP)Wtsi}
forearm, HOM, Female, WTSI

View all 79 images

Snx5^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Snx5^{tm1a(KOMP)Wtsi}
eye, cornea/lens fusion, corneal opacity, synechia, HOM, Male, WTSI

Human diseases caused by Snx5 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 Snx5 (0 diseases)
Human diseases predicted to be associated with Snx5 (755 diseases)

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

The table below shows human diseases predicted to be associated to Snx5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Thromb...	ORPHA:3319
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Alopecia totalis, Death in childhood, Acrocyanosis, Abnormality of the nail...	OMIM:302000
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-...	ORPHA:79126
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res...	OMIM:619057
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non...	ORPHA:1302
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Failure to thrive, Respiratory insufficiency, Death in childhood	OMIM:616081
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Hypopigmentation of hair, Short stature, Partial albinism	ORPHA:90023
Waardenburg Syndrome Type 3	Atelectasis, White hair, Tracheomalacia, Acrocyanosis, Thick eyebrow	ORPHA:896
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Immunodeficiency 54	Recurrent respiratory infections, Short stature, Postnatal growth retardation, Respiratory insuff...	OMIM:609981
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Premature graying ...	OMIM:616371
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot...	ORPHA:2257
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ...	ORPHA:60033
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary...	ORPHA:330012
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weigh...	ORPHA:747
Idiopathic Pulmonary Hemosiderosis	Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Crack...	ORPHA:99931
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum...	OMIM:608647
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Atelectasis, Respiratory distress, Death in infancy	OMIM:300219
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary...	ORPHA:36238
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re...	OMIM:620326
Neuralgic Amyotrophy	Acrocyanosis, Short stature, Respiratory insufficiency	ORPHA:2901
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abn...	OMIM:620233
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira...	OMIM:245400
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary art...	ORPHA:2414
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap...	ORPHA:199241
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Short stature, Pneumonia, Congenital abnormal hair pattern, Spotty hypopigmentation, Gr...	ORPHA:1867
Larsen-Like Syndrome, Lethal Type	Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail...	OMIM:614399
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr...	ORPHA:454836
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment...	OMIM:607624
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Pulmonary hypoplasia, Death in childhood, Neonatal death, Failure to thrive	OMIM:614096
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:611890
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal de...	OMIM:619003
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive, Cyanosis	ORPHA:91130
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea	ORPHA:1832
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Neuroectodermal Melanolysosomal Disease	Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Premat...	ORPHA:33445
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Short stature	OMIM:600561
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati...	OMIM:620121
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Hemochromatosis, Type 4	Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev...	OMIM:606069
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci...	OMIM:300770
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure	OMIM:616867
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia...	OMIM:244400
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys...	ORPHA:133
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Hepatic Veno-Occlusive Disease	Jaundice, Increased body weight, Respiratory failure	ORPHA:890
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Abnormal hair morphology, Atelectasis, Paronychia, Cough, Gener...	ORPHA:2314
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Severe short stature, Abnormality of the nail, Respiratory insufficiency	OMIM:313420
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Ataxia-Telangiectasia	Recurrent respiratory infections, Hypopigmentation of hair, Telangiectasia of the skin, Premature...	ORPHA:100
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hemochromatosis, Type 2B	Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr...	OMIM:613313
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Congenital Isolated Acth Deficiency	Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures	ORPHA:199296
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp...	OMIM:618042
Liddle Syndrome	Hypokalemia	ORPHA:526
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Postnatal growth retardation, D...	ORPHA:3309
Hereditary Methemoglobinemia	Cyanosis, Small for gestational age, Abnormality of the nail, Exertional dyspnea	ORPHA:621
Aceruloplasminemia	Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla...	OMIM:604290
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Prolonged n...	OMIM:607625
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Leigh Syndrome	Respiratory insufficiency, Pigmentary retinopathy, Respiratory failure, Failure to thrive, Abnorm...	OMIM:256000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Short stature	ORPHA:1355
Farber Disease	Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up...	ORPHA:333
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice	ORPHA:60
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Failure to thrive, Hypopigmentation of hair	ORPHA:70472
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne...	ORPHA:555874
Congenital Heart Block	Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency	ORPHA:370968
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Tachypnea, Respiratory failure, Intrauterine growth retardation, Failu...	OMIM:604320
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Netherton Syndrome	Recurrent respiratory infections, Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyeb...	ORPHA:634
Hypophosphatasia	Emphysema, Short stature, Failure to thrive in infancy, Respiratory insufficiency	ORPHA:436
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n...	OMIM:617872
Lymphangioleiomyomatosis	Recurrent respiratory infections, Ungual fibroma, Atelectasis, Dyspnea, Pneumothorax, Pulmonary i...	ORPHA:538
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Respiratory failure, Respiratory insufficiency	OMIM:618186
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment...	OMIM:256710
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis, Obesity	OMIM:257500
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Growth delay, Pu...	OMIM:613177
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Riddle Syndrome	Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent p...	ORPHA:420741
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility, Weight loss	ORPHA:3226
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia	ORPHA:664
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Hyperekplexia 4	Respiratory failure	OMIM:618011
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Lymphatic Malformation 12	Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren...	OMIM:620014
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin...	ORPHA:71526
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea	ORPHA:2759
Bloom Syndrome	Sparse eyelashes, Pneumonia, Bronchitis, Small for gestational age, Respiratory tract infection, ...	ORPHA:125
Short-Rib Thoracic Dysplasia 12	Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Hypoplastic nipples, Neonatal death...	OMIM:269860
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Failure to thrive	ORPHA:444013
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Small for gestational age, Apneic episodes precipitated by illness, fatigue,...	OMIM:312170
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Nasa...	ORPHA:183
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism	ORPHA:2786
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Crackles, Increased DLCO...	OMIM:233450
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Diabetes mellitus,...	ORPHA:79230
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency	OMIM:615330
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Short stature	OMIM:210050
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618838
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Failure to thrive, Congenital laryngeal stridor	ORPHA:2254
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Fanconi Renotubular Syndrome 1	Glycosuria, Hypokalemia, Hypophosphatemia	OMIM:134600
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Freckling, Albinism, Ocular a...	OMIM:203300
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Small for gestational age, Highly arched eyebrow, Respiratory failure...	OMIM:618804
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm...	ORPHA:2038
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:614736
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Severe postn...	ORPHA:98905
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ...	OMIM:227810
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Small for gestational age, Tachypnea, Anomalous pulmonary venous return, Hypoxemia, Fai...	ORPHA:860
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat...	ORPHA:209905
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta...	OMIM:616482
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Failure to thrive, Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure, Generalized hirsutism	ORPHA:363400
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Breath-Holding Spells	Cyanosis	OMIM:607578
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Double Outlet Right Ventricle	Cyanosis, Short stature, Tachypnea, Pulmonary artery atresia, Failure to thrive	ORPHA:3426
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Short stature, Obesity, Hypopigmentation of the skin, Iris hypopigmenta...	ORPHA:177910
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Growth delay, Intrauterine growth retardation, Respiratory failure, Death in infancy	ORPHA:1194
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira...	ORPHA:536467
Encephalopathy, Ethylmalonic	Death in infancy, Failure to thrive, Acrocyanosis, Petechiae	OMIM:602473
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Cyanosis, Orthopne...	ORPHA:980
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Respiratory failure, Absent toenail, Absent fingernail, Congeni...	ORPHA:158687
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Cyanotic episode, Failure to thrive in infancy	ORPHA:284417
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Dyspnea, Growth delay, Respiratory failure, Thin eyebrow, F...	ORPHA:2707
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Small for gestational age, Fail...	ORPHA:1199
Cystinosis	Type I diabetes mellitus, Hypokalemia, Hypophosphatemia	ORPHA:213
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Growth delay, Hypopnea, Respiratory failure, Neonatal death, R...	OMIM:617248
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:98914
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis	ORPHA:449285
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Failure to thrive, Cyanosis, Aortopulmonary window, Pulmonary h...	ORPHA:99050
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Respiratory failure, Short stature, Death in childhood	OMIM:619847
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Nail dystrophy, Emphysema, Pulmonary fibrosis	OMIM:620365
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Growth delay, Failure to thrive, Acrocyanosis, Long eyebrows	OMIM:614407
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Pigmentary retinopathy, R...	OMIM:220110
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p...	ORPHA:1329
Metatropic Dysplasia	Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp...	OMIM:156530
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Jaundice, Pulmonary infiltrates, Premature graying of...	ORPHA:79477
Relapsing Polychondritis	Alopecia, Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura	ORPHA:728
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Meier-Gorlin Syndrome 4	Short stature, Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema,...	OMIM:613804
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation, Cyanosis	OMIM:619793
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Nijmegen Breakage Syndrome	Abnormal hair quantity, Recurrent sinopulmonary infections, Recurrent respiratory infections, Sho...	ORPHA:647
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Hatipoglu Immunodeficiency Syndrome	Failure to thrive, Recurrent bronchitis, Poor wound healing, Proportionate short stature, Hyperpi...	OMIM:620331
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Bruising susceptibility, Hy...	OMIM:614072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure	OMIM:606612
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
3-Methylglutaconic Aciduria Type 7	Growth delay, Respiratory failure, Pneumothorax	ORPHA:445038
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Leukonychia, Weight loss, Restrictive ventilato...	ORPHA:2905
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef...	ORPHA:3015
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Tarp Syndrome	Cyanosis, Apnea, Abnormal hair pattern, Pulmonary hypoplasia, Intrauterine growth retardation, Fa...	ORPHA:2886
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Sepsis In Premature Infants	Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla...	ORPHA:90051
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Abcd Syndrome	White eyelashes, White eyebrow, Large for gestational age, Albinism, Neonatal death	OMIM:600501
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Scoliosis, Neutropenia	OMIM:612562
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Respiratory insufficiency, Pigmentary retinopathy, Respiratory failure...	OMIM:609015
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Sparse eyebrow, Recurrent pneumonia, Growth d...	ORPHA:496641
Rajab Interstitial Lung Disease With Brain Calcifications 1	Short stature, Small for gestational age, Tachypnea, Abnormal pulmonary interstitial morphology, ...	OMIM:613658
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure, Weight loss	ORPHA:679
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Obesity, Respiratory failure, Paroxysmal dyspnea, Pulmonary...	ORPHA:563
Meckel Syndrome 14	Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Cyanosis	OMIM:619879
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short stature, Thick hair, Postnatal growth retardation, Abnormal subcutaneous fat tissue distrib...	ORPHA:357074
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Short stature, Intercostal muscle weakness	OMIM:606071
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Dermatomyositis	Abnormal hair quantity, Recurrent respiratory infections, Telangiectasia of the skin, Erythema, A...	ORPHA:221
S-Adenosylhomocysteine Hydrolase Deficiency	Growth delay, Respiratory failure, Failure to thrive, Abnormality of hair texture	ORPHA:88618
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu...	ORPHA:141127
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Pituitary Adenoma 4, Acth-Secreting	Glucose intolerance, Hypokalemia, Impaired glucose tolerance	OMIM:219090
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum...	ORPHA:31204
Fibrodysplasia Ossificans Progressiva	Alopecia, Respiratory failure, Respiratory insufficiency	OMIM:135100
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Chand Syndrome	Atelectasis, Curly hair, Nail dysplasia	ORPHA:1401
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Short neck, Microcytic anemia	ORPHA:98791
Obesity And Hypopigmentation	Red hair, Obesity	OMIM:620195
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumoni...	ORPHA:73263
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Short stature, Growth delay, Pulmonary artery hypoplasia, Delayed puberty	ORPHA:2326
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Emphysema, Failure to...	OMIM:242700
Alg1-Cdg	Respiratory failure	ORPHA:79327
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Hypocomplementemic Urticarial Vasculitis	Dyspnea, Angioedema, Emphysema, Restrictive ventilatory defect, Irregular hyperpigmentation, Coug...	ORPHA:36412
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Obesity, Red hair, Mild short stature, Fair hair, Intrauterine growth retardation	OMIM:614613
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae	OMIM:617101
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism	ORPHA:2221
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Failure to thrive, Respiratory insufficiency	OMIM:613845
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Short neck, Reticulocytopenia, Hypoplastic sacr...	OMIM:105650
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Severe failure to thrive, Frontal hirsutism, Cyanosis	ORPHA:3304
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Short stature, Pneumonia	OMIM:617809
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Alopecia, Failure to thrive, Pneumonia, Dyspnea, Paronychia, Pneumothorax, ...	ORPHA:79404
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ...	ORPHA:3337
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Recurrent respiratory infections, Sparse scalp hair, Short stature, Atelectasis...	ORPHA:534
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Failure to thrive, Short stature	ORPHA:280210
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618839
Buerger Disease	Acrocyanosis	ORPHA:36258
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:411515
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Squalene Synthase Deficiency	Intrauterine growth retardation, Cutaneous photosensitivity, Failure to thrive in infancy, Abnorm...	OMIM:618156
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Short stature, Premature graying of hair, Exces...	ORPHA:3322
Dyskeratosis Congenita, Autosomal Dominant 2	Short stature, Reticulated skin pigmentation, Premature graying of hair, White forelock, Pulmonar...	OMIM:613989
Ethylmalonic Encephalopathy	Failure to thrive, Acrocyanosis, Petechiae	ORPHA:51188
16Q24.3 Microdeletion Syndrome	Kyphosis, Increased mean corpuscular volume, Scoliosis, Thrombocytopenia	ORPHA:261250
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Hypoplastic toenails, Respiratory insuffi...	OMIM:608836
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Infantile Krabbe Disease	Respiratory distress, Cachexia, Hypopigmented skin patches, Respiratory failure, Failure to thrive	ORPHA:206436
Congenital Fibrinogen Deficiency	Abnormality of the subungual region, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Short neck, Erythroid hypoplasia, Reticulocytopeni...	ORPHA:124
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Epistaxis, Dyspnea, Ocular albinism, Melanocytic nevu...	ORPHA:79430
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Short stature	ORPHA:1861
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria	OMIM:616026
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
22Q11.2 Deletion Syndrome	Short stature, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Hypopi...	ORPHA:567
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Leigh Syndrome	Alopecia, Growth delay, Respiratory failure, Intrauterine growth retardation, Frontal hirsutism, ...	ORPHA:506
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Growth delay, Respiratory failure, ...	OMIM:252010
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Double Outlet Left Ventricle	Failure to thrive, Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Adrenocortical Carcinoma	Hypokalemia, Diabetes mellitus	ORPHA:1501
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Common Variable Immunodeficiency	Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri...	ORPHA:1572
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary...	ORPHA:3342
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema	ORPHA:31826
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Respiratory failure, Failure to thrive in infancy, Respiratory insufficiency	ORPHA:746
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Costello Syndrome	Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Pneumothorax, Respiratory ins...	OMIM:218040
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Cyanosis	OMIM:617478
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Failure to thrive, Small for gestational age, Death in childhood	OMIM:618252
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Ovoid vertebral bodies, Persistence of hemoglobin F, Anemia...	OMIM:260400
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest	ORPHA:26791
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth retardation, Cafe-au-l...	OMIM:618541
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood, In...	OMIM:610505
Infantile Nephropathic Cystinosis	Glycosuria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Osteopetrosis, Autosomal Recessive 5	Growth delay, Respiratory failure, Stillbirth, Short stature	OMIM:259720
Eosinophilic Fasciitis	Acrocyanosis, Weight loss	ORPHA:3165
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Joubert Syndrome 21	Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis	OMIM:615636
Familial Dysautonomia	Recurrent respiratory infections, Abnormal pleura morphology, Growth delay, Acrocyanosis, Heteroc...	ORPHA:1764
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Prader-Willi Syndrome	Recurrent respiratory infections, Hypoventilation, Hypopigmentation of hair, Short stature, Iris ...	OMIM:176270
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype...	ORPHA:79102
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis, Growth ...	OMIM:223900
Histiocytoid Cardiomyopathy	Cyanosis, Tachypnea, Cough, Failure to thrive, Pulmonary edema	ORPHA:137675
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia	ORPHA:369929
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect...	OMIM:123700
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
De Barsy Syndrome	Recurrent sinopulmonary infections, Short stature, Progeroid facial appearance, Postnatal growth ...	ORPHA:2962
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema	OMIM:261740
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Failure to thrive, Respiratory insufficiency	OMIM:618329
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Long eyelashes, Apnea	OMIM:617301
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level	OMIM:607364
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Emphysema, Premature graying of hair, Sparse hair, Premature sk...	ORPHA:363618
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin ...	ORPHA:465508
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Gitelman Syndrome	Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypokalemia, Diabeti...	ORPHA:358
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure	OMIM:620327
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura	ORPHA:343
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Asthma, Recurrent upper respir...	ORPHA:293987
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Failure to thrive in infancy	ORPHA:488627
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short stature, Miscarriage, Large for gestational age, Postnatal growth retardation, Pulmonary ar...	ORPHA:96334
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast a...	ORPHA:238468
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Short stature, Small f...	ORPHA:98754
Aicardi-Goutieres Syndrome 1	Short stature, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypoglycemia	ORPHA:786
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Leprechaunism	Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i...	ORPHA:508
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure	ORPHA:533
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Respiratory failure	ORPHA:3240
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Sarcoidosis, Susceptibility To, 1	Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infiltrates, Hypox...	OMIM:181000
Ermine Phenotype	Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h...	ORPHA:999
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Short stature, Small f...	ORPHA:98793
Fucosidosis	Failure to thrive, Acrocyanosis, Vascular skin abnormality, Abnormality of the nail	ORPHA:349
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt...	OMIM:301040
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure	ORPHA:254528
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Short stature, Small f...	ORPHA:177904
Myhre Syndrome	Short stature, Small for gestational age, Obesity, Respiratory insufficiency, Fine hair, Birth le...	OMIM:139210
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Short stature, Small f...	ORPHA:177901
Ellis Van Creveld Syndrome	Abnormal hair quantity, Failure to thrive, Abnormal fingernail morphology, Hypoplastic toenails, ...	ORPHA:289
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Pitt-Hopkins Syndrome	Failure to thrive, Supernumerary nipple, Postnatal growth retardation, Hypopigmented skin patches...	ORPHA:2896
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Respiratory failure, Hypomelanotic macule, Ung...	ORPHA:805
Ear-Patella-Short Stature Syndrome	Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Breast ap...	ORPHA:2554
Osteootohepatoenteric Syndrome	Hypokalemia, Increased serum bile acid concentration	OMIM:619377
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormality of retinal pigmentation, Severe short stature, Abnormal eyelash...	ORPHA:2556
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Growth delay, Respirato...	ORPHA:731
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Classic Phenylketonuria	Growth delay, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Digeorge Syndrome	Short stature, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Obesity, ...	OMIM:188400
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Short stature, Small for gestational age, Trichorrhexis n...	ORPHA:84064
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Cyanosis, Hypoplastic toenails, Total anomalous pu...	OMIM:306955
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Reduced blood urea nitrogen, Hypophosphatemia, Glycosuria, Hypok...	OMIM:219800
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Type I diabetes mellitus	ORPHA:199299
Pearson Syndrome	Diabetes mellitus, Hypomagnesemia, Glycosuria, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyper...	ORPHA:699
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia, Ketotic hypoglycemia, Hypoglycemic seizures	ORPHA:361
Niemann-Pick Disease Type C	Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Respiratory...	ORPHA:646
Sim1-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Obesity, Abdominal obesity, Failure t...	ORPHA:398079
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Hypermelanotic m...	ORPHA:740
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Severe short stature, Small for gestational age, Emphysema, Del...	OMIM:616835
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Large for gestational age, Abnormality of skin pigmentation, Respiratory failur...	OMIM:300868
Ulbright-Hodes Syndrome	Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc...	ORPHA:3404
Nelson Syndrome	Hypokalemia, Type II diabetes mellitus	ORPHA:199244
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Short stature, Increased body weight,...	ORPHA:398069
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Unilateral lung agenesis, Failure to thrive in infancy, Proportionate short stature, ...	ORPHA:500150
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Hypoglycemia	ORPHA:90790
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Short stature, ...	ORPHA:177907
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:411511
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Chédiak-Higashi Syndrome	Recurrent respiratory infections, Abnormality of retinal pigmentation, Hypopigmentation of hair, ...	ORPHA:167
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Silver-gray hair, Jaundice, Ocular al...	OMIM:214500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:617053
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia	ORPHA:90791
Vipoma	Hypokalemia, Diabetes mellitus, Hypercalcemia	ORPHA:97282
Scorpion Envenomation	Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ...	ORPHA:466677
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia, Glycosuria	ORPHA:97362
Vici Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Albinism, Postnatal growth retardatio...	OMIM:242840
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit...	ORPHA:309854
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Marburg Hemorrhagic Fever	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	ORPHA:99826
Prader-Willi Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Short stature, Abdominal obesity, Fai...	ORPHA:739
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Weight loss, Vasculitis in the skin, Acrocyanosis, ...	ORPHA:48435
Abetalipoproteinemia	Abnormality of retinal pigmentation, Respiratory failure, Failure to thrive	ORPHA:14
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema	OMIM:219100
Brittle Cornea Syndrome 1	Palmoplantar cutis laxa, Red hair	OMIM:229200
Acute Adrenal Insufficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper...	ORPHA:95409
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:98794
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Pneumonia, Abno...	OMIM:619488
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Excessive skin w...	ORPHA:2834
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Dyspnea, Loss of eyelashes, Respiratory failure, Thin eyebrow, Sp...	ORPHA:2636
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Birk-Landau-Perez Syndrome	Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Abnormality ...	OMIM:222470
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Obesity	OMIM:609734
Proximal Renal Tubular Acidosis	Hypokalemia, Bicarbonaturia, Glycosuria	ORPHA:47159
Keutel Syndrome	Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin...	OMIM:245150
Otopalatodigital Syndrome, Type Ii	Short stature, Postnatal growth retardation, Widow's peak, Respiratory insufficiency, Respiratory...	OMIM:304120
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary...	ORPHA:97214
Autosomal Recessive Cutis Laxa Type 1	Severe short stature, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Intrauterine ...	ORPHA:90349
Koolen-De Vries Syndrome	Hypopigmentation of hair, Short stature, Abnormality of hair texture	ORPHA:96169
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Alopecia, Respiratory insufficiency due to mu...	ORPHA:273
Addison Disease	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper...	ORPHA:85138
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Distal Renal Tubular Acidosis	Hypokalemia	ORPHA:18
Fraser Syndrome 2	Respiratory failure, Low anterior hairline	OMIM:617666
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Short stature, Cutis marmorata, Rhizomelia, Abnormal eyelash morphology...	ORPHA:818
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia, Hyperkalemia	ORPHA:293978
Brittle Cornea Syndrome	Bruising susceptibility, Abnormality of hair pigmentation	ORPHA:90354
Tsh-Secreting Pituitary Adenoma	Hypokalemia	ORPHA:91347
Sarcoidosis	Alopecia, Abnormal nasal mucosa morphology, Abnormal pleura morphology, Dyspnea, Abnormal lung mo...	ORPHA:797
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Short stature, Ocular albinism, Growth delay, Iris hypopigmentation	ORPHA:2719
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Coffin-Lowry Syndrome	Cutis marmorata, Short stature, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Decr...	OMIM:303600
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:289548
Menkes Disease	Hypopigmentation of hair, Woolly hair, Spontaneous hematomas, Prolonged neonatal jaundice, Sparse...	ORPHA:565
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Failure to thrive, Cyanosis	ORPHA:216694
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair	ORPHA:1974
Primary Hyperoxaluria	Failure to thrive, Acrocyanosis, Cutis marmorata	ORPHA:416
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Short stature, Prolonged neonatal jaundice	ORPHA:51
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia	ORPHA:544482
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia	ORPHA:275761
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Failure to thrive in infancy	ORPHA:51608
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising...	ORPHA:287
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia	ORPHA:90794
Vascular Ehlers-Danlos Syndrome	Hypokalemia	ORPHA:286
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea	ORPHA:285
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level	OMIM:201750

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 Snx5

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 Snx5.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Sorting nexin 5 mediates virus-induced autophagy and immunity.	Nature (December 2020)	Snx5^{tm1a(KOMP)Wtsi}	33328639
Sorting nexin-5 is not required for normal spermatogenesis and male fertilization in mice.	Molecular reproduction and development (October 2020)	Snx5^{tm1a(KOMP)Wtsi}	33118244
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Snx5^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Snx5^{tm1a(KOMP)Wtsi}	PMC6459510
Sorting nexin 5 selectively regulates dorsal-ruffle-mediated macropinocytosis in primary macrophages.	Journal of cell science (October 2015)	Snx5^{tm1a(KOMP)Wtsi}	26459636

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MGI Allele	Allele Type	Produced
Snx5^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Snx5^{tm296121(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Snx5^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Snx5^{tm35262(pL1L2_GT0_DelLacZ_bsd)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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