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Gene: Nr3c1 MGI:95824

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

nuclear receptor subfamily 3, group C, member 1

Synonyms:

Grl-1, Grl1, glucocorticoid receptor, GR

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nr3c1 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 Nr3c1 (3 diseases)
Human diseases predicted to be associated with Nr3c1 (932 diseases)

The table below shows human diseases associated to Nr3c1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Cushing Disease	Poor wound healing, Increased circulating cortisol level, Bruising susceptibility, Increased urin...	ORPHA:96253
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and...	OMIM:615962

The table below shows human diseases predicted to be associated to Nr3c1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom...	OMIM:103900
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension	OMIM:617027
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypertension, Adrena...	OMIM:201910
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis...	ORPHA:403
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati...	ORPHA:404
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypertension, Hypokalemia	OMIM:605635
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyperten...	OMIM:613677
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Recurrent viral upper respiratory tr...	OMIM:619773
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Prolonged QT interval, I...	ORPHA:251274
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hypertension...	OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyp...	ORPHA:231580
Late-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis...	ORPHA:556037
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Early-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis...	ORPHA:556030
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote...	OMIM:177735
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Hypertension, Adrenal hyperplasia	OMIM:202110
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote...	OMIM:264350
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula...	ORPHA:231625
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperplasia, Hypokal...	ORPHA:369929
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperpl...	ORPHA:90790
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Respiratory distress...	OMIM:610978
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu...	OMIM:616030
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Lethal Congenital Contracture Syndrome 3	Respiratory insufficiency, Neonatal death	OMIM:611369
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De...	ORPHA:90793
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Spermatogenic Failure 28	Decreased serum testosterone concentration, Decreased testicular size, Elevated circulating lutei...	OMIM:618086
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Miscarriage	ORPHA:96181
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased...	OMIM:202010
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:614839
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Spermatogenic Failure, X-Linked, 4	Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva...	OMIM:301077
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con...	ORPHA:90791
Meconium Aspiration Syndrome	Atelectasis, Transient pulmonary infiltrates, Respiratory distress, Aspiration pneumonia, Pneumot...	ORPHA:70588
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te...	OMIM:614897
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
X-Linked Intellectual Disability, Van Esch Type	Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased...	ORPHA:163976
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty...	ORPHA:453533
Birt-Hogg-Dubé Syndrome	Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration	ORPHA:122
Ectopic Aldosterone-Producing Tumor	Epistaxis, Decreased circulating renin level, Hypokalemia, Ovarian neoplasm, Hypertension, Glucoc...	ORPHA:231632
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Larynx Atresia	Recurrent respiratory infections, Respiratory insufficiency	ORPHA:1202
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:300717
Congenital Pulmonary Airway Malformation	Abnormal pleura morphology, Respiratory insufficiency	ORPHA:2444
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia	OMIM:202150
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Abnormal circulating aldosterone, Glucocortocoid-insensitive p...	ORPHA:171876
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi...	OMIM:300869
Systemic Lupus Erythematosus 16	Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib...	OMIM:614420
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ...	OMIM:618042
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Respiratory insufficiency	OMIM:601612
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron...	ORPHA:922
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Bronchopulmonary Dysplasia	Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ...	ORPHA:70589
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis	OMIM:604571
X-Linked Intellectual Disability, Cilliers Type	Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased...	ORPHA:163971
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Hypoadrenocorticism, Familial	Cyanosis, Adrenal insufficiency, Apnea, Adrenal hypoplasia	OMIM:240200
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:616081
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a...	OMIM:615474
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Bronchiectasis, Splenomegaly, Chronic bronchitis	OMIM:613490
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu...	OMIM:263000
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormal thymus morphology, Decreased proportion of CD8-positive T cells, Decreased proportion of...	OMIM:611926
Ane Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula...	ORPHA:157954
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi...	OMIM:214700
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased serum testosterone concentration, Decreased testicular size, Hypothalamic gonadotropin-...	OMIM:308700
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Pulmon...	OMIM:611812
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Hypogonadism	OMIM:615993
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp...	OMIM:608647
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Autosomal Recessive Spastic Paraplegia Type 26	Decreased serum testosterone concentration	ORPHA:101006
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Staphylococcal Necrotizing Pneumonia	Pneumonia, Respiratory distress, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrat...	ORPHA:36238
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
East Syndrome	Hyperaldosteronism, Hypomagnesemia, Hypokalemia, Increased circulating renin level	ORPHA:199343
49,Xxxyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:261534
Severe Acute Respiratory Syndrome	Respiratory distress, Acute infectious pneumonia, Dyspnea, Diabetes mellitus, Hypoxemia	ORPHA:140896
Cushing Disease	Poor wound healing, Increased circulating cortisol level, Bruising susceptibility, Increased urin...	ORPHA:96253
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:616950
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Autoimmunity	OMIM:609529
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Decreased response to growth hormone stimulation test, Lymphocytic intersti...	OMIM:245590
Congenital Isolated Acth Deficiency	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decrea...	ORPHA:199296
Pneumocystosis	Respiratory insufficiency, Interstitial pneumonitis, Pleural effusion, Increased circulating anti...	ORPHA:723
Bartter Syndrome, Type 3	Hypotension, Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyperactive renin-angiotensin sys...	OMIM:607364
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ...	ORPHA:70587
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Bilateral cryptorchidism, Respiratory distress, Death in infancy, Neonatal death, Un...	OMIM:300219
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o...	ORPHA:95699
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche	OMIM:614662
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Hepatomegaly, Abnormal pulmonary interst...	OMIM:612387
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,...	OMIM:610489
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ...	ORPHA:168563
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency	ORPHA:2111
Nemaline Myopathy 8	Respiratory failure, Death in infancy	OMIM:615348
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Cryptorchidism, Neonatal death, Respiratory insufficiency...	OMIM:611890
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia	ORPHA:90117
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hypertension, Increased circulating renin level	OMIM:612780
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and...	OMIM:615962
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Poor wound healing, Increased circulating cortisol level, Increased ur...	ORPHA:99889
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency	OMIM:178550
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:108420
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Abnorm...	ORPHA:2902
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc...	ORPHA:2959
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Spastic Paraplegia 26, Autosomal Recessive	Decreased serum testosterone concentration	OMIM:609195
C1Q Deficiency 2	Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis	OMIM:620321
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Increased circulating lactate dehydrogenase concentration, Atelectasis, Exertional...	ORPHA:254361
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm...	OMIM:619755
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle...	ORPHA:79644
Anaplastic Thyroid Carcinoma	Dyspnea, Goiter, Respiratory distress, Nodular goiter, Anaplastic thyroid carcinoma, Neoplasm of ...	ORPHA:142
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure, Patent ductus arteriosus, Pulmonary hypoplasia	OMIM:616867
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aspiration pneumonia	ORPHA:141152
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Decreased testicular size	OMIM:619044
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections	ORPHA:3348
Glucocorticoid Deficiency 5	Decreased circulating cortisol level, Abnormal response to ACTH stimulation test	OMIM:617825
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Death in infancy	OMIM:254120
Autoimmune Lymphoproliferative Syndrome	Antineutrophil antibody positivity, Vasculitis, Platelet antibody positive, Reduced delayed hyper...	OMIM:601859
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Congestive heart...	ORPHA:73224
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Recurrent Respiratory Papillomatosis	Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel...	ORPHA:60032
Glucocorticoid Deficiency 3	Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l...	OMIM:609197
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia	OMIM:613090
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615841
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Death in infancy	OMIM:225753
Leydig Cell Hypoplasia	Male hypogonadism, Absence of secondary sex characteristics, Breast aplasia, Hypoplasia of the Le...	ORPHA:755
Arthrogryposis Multiplex Congenita 6	Respiratory failure, Death in childhood, Death in infancy, Neonatal death	OMIM:619334
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Portal hype...	ORPHA:465508
Apparent Mineralocorticoid Excess	Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokalemia, Decrea...	ORPHA:320
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak...	ORPHA:2590
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:620103
Immunodeficiency 54	Respiratory insufficiency, Adrenal insufficiency, Adrenocorticotropic hormone excess, Recurrent r...	OMIM:609981
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615842
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology	ORPHA:2357
Larsen-Like Syndrome, Lethal Type	Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia	OMIM:245650
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas...	ORPHA:3044
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Respiratory distress, Dec...	ORPHA:226313
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or...	ORPHA:2032
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,...	ORPHA:254875
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat...	OMIM:614842
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas...	OMIM:613177
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells	OMIM:619707
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory failure, Respiratory insufficiency	ORPHA:266
Congenital Myopathy 14	Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness	OMIM:618414
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Insulin Autoimmune Syndrome	Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating...	ORPHA:411593
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Hepatic failure, Hypotension, Right ventricular failure, Increased cir...	ORPHA:97287
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Respiratory failure	OMIM:620326
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Thyroid Lymphoma	Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dyspnea	ORPHA:97285
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re...	ORPHA:90363
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec...	OMIM:620651
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Emphysema, Hepatosplenomegaly, Aplasia of the thymus, Recurrent bronchopulmo...	OMIM:242700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Hyperb...	OMIM:609734
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ...	ORPHA:358
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Respiratory failure, Death in infancy	OMIM:619386
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Thymic Neuroendocrine Tumor	Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa...	ORPHA:97289
Myopathy And Diabetes Mellitus	Respiratory distress, Type I diabetes mellitus	ORPHA:2596
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure	OMIM:620296
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension, Reduced circulating...	OMIM:611489
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
High Altitude Pulmonary Edema	Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia, Pulmonary opacity	ORPHA:330012
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperald...	OMIM:601678
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Splenomegaly, Decreased serum testosterone concentration	OMIM:201100
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Type I diabetes mellitus, Pulmonary fibrosis	OMIM:620365
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Pleural effusion, Hepatomegaly, Dyspnea, Abnorm...	ORPHA:50251
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Acute pancrea...	ORPHA:178320
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypertriglyceridemia, Hypoplasia o...	OMIM:619313
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Bre...	ORPHA:432
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Hypophosphatasia	Emphysema	ORPHA:436
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph...	OMIM:605373
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Hypertension,...	OMIM:615238
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom...	OMIM:168000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613435
Cryptogenic Organizing Pneumonia	Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor...	ORPHA:1302
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia, Neonatal death	OMIM:257100
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:3346
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Combined Oxidative Phosphorylation Deficiency 30	Elevated gamma-glutamyltransferase level, Decreased liver function, Respiratory distress, Elevate...	OMIM:616974
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Alpha-1-Antitrypsin Deficiency	Emphysema, Hepatomegaly, Bronchiectasis, Bronchitis	ORPHA:60
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff...	ORPHA:90796
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decre...	ORPHA:293978
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t...	ORPHA:60025
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei...	OMIM:244400
Congenital Myopathy 10A, Severe Variant	Respiratory failure, Respiratory insufficiency	OMIM:614399
Meningioma	Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu...	ORPHA:2495
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf...	OMIM:300200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Cholestasis,...	OMIM:620233
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Cyanotic episode	OMIM:610992
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Farber Disease	Hepatic fibrosis, Recurrent upper respiratory tract infections, Hepatic failure, Elevated circula...	ORPHA:333
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Breas...	ORPHA:2232
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Abnormal pattern of respira...	ORPHA:77260
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia	OMIM:619851
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Maternal diabetes	ORPHA:45452
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Avian Influenza	Pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulating lactate...	ORPHA:454836
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure	ORPHA:1832
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob...	ORPHA:199241
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Cyanosis, Tachypnea, Hypoparathyroidism, Pulmonary artery atresia	ORPHA:3426
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis, Respiratory failure	ORPHA:70578
Doors Syndrome	Respiratory distress, Congenital hypothyroidism, Adrenal hyperplasia, Aspiration pneumonia	ORPHA:79500
Hepatitis, Fulminant Viral, Susceptibility To	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatic failur...	OMIM:618549
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,...	OMIM:174800
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Premat...	ORPHA:100
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation	OMIM:300770
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:913
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Tachypnea, D...	ORPHA:91359
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Decreased serum ...	OMIM:241080
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR...	ORPHA:99931
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrost...	OMIM:250790
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon...	ORPHA:3464
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia	OMIM:602522
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia	OMIM:273395
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepatosplenomegaly, Hep...	OMIM:619013
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Cryptorchidism, Respiratory insufficiency	ORPHA:370968
Bartter Syndrome Type 4	Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst...	ORPHA:89938
Pseudohypoaldosteronism, Type Iia	Hypertension, Hyperkalemia, Pseudohypoaldosteronism	OMIM:145260
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Scedosporiosis	Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Respiratory failure, Pleural empyema	ORPHA:449280
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:241200
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ...	ORPHA:97278
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Adrenal calcification, Acute...	OMIM:278000
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Pleural effusion, Cyanosis	ORPHA:2414
46,Xy Partial Gonadal Dysgenesis	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Ovarian gonadoblastoma...	ORPHA:251510
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Type I diabetes mellitus, Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count,...	OMIM:620430
Somatostatinoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating c...	ORPHA:97283
Hyperekplexia 4	Respiratory failure	OMIM:618011
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection...	ORPHA:244
Nelson Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca...	ORPHA:199244
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita...	OMIM:614736
Lymphatic Malformation 12	Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren...	OMIM:620014
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Stillbirth, Abnormal lung lobation	OMIM:236680
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Maternal diabetes, Hepatomegaly, Hypoxemia, Anomalous pulmonary venous return	ORPHA:860
Poems Syndrome	Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Pleur...	ORPHA:2905
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Abnormal circulating calcium-phosphate regulating hormone concentration, Hy...	ORPHA:50810
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Leprechaunism	Central hypothyroidism, Hyperaldosteronism, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hypoka...	ORPHA:508
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo...	ORPHA:911
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypo...	OMIM:614837
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Testicular Agenesis	Decreased serum testosterone concentration, Absent testis, Vanishing testis, Increased circulatin...	ORPHA:325124
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re...	OMIM:610910
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Respiratory insufficiency	OMIM:618695
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, Pulmonary insufficiency, B lymphocytopenia	ORPHA:277
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Respiratory ...	ORPHA:209905
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Myasthenia Gravis	Hepatitis, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymus...	ORPHA:589
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome, Absent circ...	OMIM:619705
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Elevated circulating luteinizing hormone level, Decrease...	OMIM:229070
Vipoma	Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating ...	ORPHA:97282
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Apnea, Cyanosis, Tachypnea, Pneumothorax, Recurrent respira...	ORPHA:2257
Interstitial Lung And Liver Disease	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Intraalveolar phosph...	OMIM:615486
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir...	ORPHA:97261
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P...	OMIM:607625
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic...	ORPHA:100085
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Death in adolescence, Stillbirth	OMIM:619751
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618126
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613954
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati...	ORPHA:90795
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis, Pulmonary opacity	ORPHA:411703
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	ORPHA:69663
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Hypertriglyceridemia	OMIM:620282
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Decreased circulating IgG level, Bronchitis, D...	ORPHA:420741
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Increased circulating lactate dehydrogenase concentration, Intraalveolar ph...	ORPHA:747
Cardiomyopathy, Dilated, 2H	Cardiorespiratory arrest, Neonatal death	OMIM:620203
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp...	ORPHA:534
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia	ORPHA:264675
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Pseudohypoaldosteronism, Type Iib	Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614495
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:319213
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal death	OMIM:605711
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:618186
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure	OMIM:614922
46,Xx Sex Reversal 2	Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva...	OMIM:278850
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Respiratory failure	ORPHA:363400
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle weak...	ORPHA:352447
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Death in childhood	OMIM:615597
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Recurrent respiratory infections, Respiratory failure	ORPHA:3226
Zygomycosis	Hepatitis, Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneum...	ORPHA:73263
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Liddle Syndrome 1	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:177200
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Atelectasis, Neonatal death, Hypoplastic nipples, Hepatomegaly, Pulmonary hy...	OMIM:269860
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hyperhidrosis, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Netherton Syndrome	Emphysema, Recurrent respiratory infections	ORPHA:634
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Hypothyroidism, Hypogonadism	ORPHA:254913
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ...	ORPHA:3384
Cadds	Cholestasis, Cholangitis, Elevated circulating hepatic transaminase concentration, Adrenal hypopl...	ORPHA:369942
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:2759
Myotonic Dystrophy 1	Respiratory distress, Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Apnea, Hepatic steatosis, Cyanosis, Elevated cir...	OMIM:261680
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Hypotension, Abnormality of the Leydig cells, Adr...	ORPHA:289548
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Decreased testicular size, Acrocyanosis, Cryptorchidism	ORPHA:1867
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Female hypogonad...	ORPHA:91349
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Degeneration of anterior horn cells	ORPHA:2254
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin	ORPHA:2314
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatic steatosis	ORPHA:26792
Mccune-Albright Syndrome	Precocious puberty, Increased circulating cortisol level, Hepatitis, Increased circulating prolac...	ORPHA:562
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Type I diabetes mellitus	OMIM:620166
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr...	OMIM:607594
Steinert Myotonic Dystrophy	Atrial fibrillation, Male hypogonadism, Cholelithiasis, Prolonged PR interval, Dilated cardiomyop...	ORPHA:273
Slc35A1-Cdg	Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Glucagonoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating c...	ORPHA:97280
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Elevated circulating hepatic transaminase concentration, Death in infancy	OMIM:615042
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Pneumonia	ORPHA:596
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Respiratory failure, Cryptorchidism, Death in infancy	ORPHA:1194
Proprotein Convertase 1/3 Deficiency	Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Hypoinsulinemia, Elevated ci...	OMIM:600955
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c...	OMIM:102700
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Death in infancy, Decreased liver function, Neonatal death	OMIM:618835
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce...	OMIM:308240
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Death in infancy, Decreased liver function, Neonatal death	OMIM:618839
Tularemia	Pneumonia, Respiratory distress, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary thor...	ORPHA:3392
Pseudohypoaldosteronism, Type Iie	Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614496
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte...	OMIM:614492
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Hypotension, Abnormality of the Leydig cells, Abs...	ORPHA:168558
Common Variable Immunodeficiency	Pneumonia, Emphysema, Splenomegaly, Recurrent bronchitis, Recurrent respiratory infections, Bronc...	ORPHA:1572
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:613561
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal anterior horn cell morphology, Cryptorchidism, Degeneration of ant...	ORPHA:1145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Abnormality of alkaline phosphatase level, Respiratory distress, Elevated circulating aspartate a...	OMIM:620375
Mogs-Cdg	Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Pulmonary edema, Hypothyroidism...	ORPHA:79330
Leigh Syndrome, Nuclear	Respiratory failure, Respiratory insufficiency	OMIM:256000
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Bilateral cryptorchidism, Decreased testicular size, Cyanosis, Hypog...	ORPHA:2326
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti...	ORPHA:51636
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Recurrent upper respiratory tract infections, Elevated circulating hepatic ...	ORPHA:293987
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration	OMIM:620011
Aicardi-Goutieres Syndrome 1	Erythema, Elevated circulating hepatic transaminase concentration, Petechiae, Hepatomegaly, Hypot...	OMIM:225750
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Pleural effusion, Emphysema	ORPHA:36412
45,X/46,Xy Mixed Gonadal Dysgenesis	Bilateral cryptorchidism, Decreased serum testosterone concentration, Streak ovary, Cryptorchidis...	ORPHA:1772
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal...	OMIM:606367
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	ORPHA:367
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Hereditary Methemoglobinemia	Exertional dyspnea, Cyanosis	ORPHA:621
Glycogen Storage Disease Due To Acid Maltase Deficiency	Increased circulating lactate dehydrogenase concentration, Atelectasis, Respiratory distress, Abn...	ORPHA:365
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T cells, Lymphope...	OMIM:301000
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Burkitt Lymphoma	Abnormality of the ovary, Abnormality of the spleen, Gastrointestinal hemorrhage, Decreased propo...	ORPHA:543
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia, Pulmonary hypoplasia	ORPHA:2140
Ullrich Congenital Muscular Dystrophy	Respiratory failure	ORPHA:75840
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia	OMIM:616733
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Cystic Echinococcosis	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Pulmonary cyst, Abnormality ...	ORPHA:400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency due to muscle w...	ORPHA:308552
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute h...	ORPHA:139402
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Hypothyroidism, Pneumothorax, Respiratory failure	ORPHA:445038
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Stt3B-Cdg	Respiratory distress, Cryptorchidism	ORPHA:370924
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level, Respiratory failure	ORPHA:83313
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Alveolar Echinococcosis	Pulmonary cyst, Biliary cirrhosis, Decreased liver function, Portal hypertension, Hepatic cysts, ...	ORPHA:284
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Hypotension, Elevated circulating hepatic transaminase concentration, ...	ORPHA:100079
Laryngotracheoesophageal Cleft	Dyspnea, Recurrent respiratory infections, Cyanosis	ORPHA:2004
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Death in childhood, Microvesicular hepa...	OMIM:618278
Digeorge Syndrome	Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Atelectasis, Hepatic steatosis, Ovar...	OMIM:188400
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum...	ORPHA:538
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Nocardiosis	Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Abnormality of the adrenal glands, ...	ORPHA:31204
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Decreased circulating luteinizing...	OMIM:619761
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Respiratory failure, Degeneration of anterior horn ...	OMIM:604320
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:37042
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, Respiratory failure	OMIM:620249
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Congenital Fibrinogen Deficiency	Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicular size, Subcutaneous hemorr...	ORPHA:335
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Death in infancy	OMIM:614862
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Gonadoblastoma	Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Dysgerminoma	ORPHA:206484
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Congenital Heart Block	Pleural effusion, Cyanosis	ORPHA:60041
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections	OMIM:219100
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly	OMIM:614741
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Recurrent infections due to aspiration, Intercostal muscle weaknes...	ORPHA:70
Postsynaptic Congenital Myasthenic Syndromes	Exertional dyspnea, Orthopnea, Cyanosis	ORPHA:98913
Snakebite Envenomation	Hypopituitarism, Respiratory failure	ORPHA:449285
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:464453
Polyembryoma	Increased serum serotonin, Abnormal circulating gonadotropin concentration, Increased serum testo...	ORPHA:180229
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Succinic Acidemia	Respiratory distress	OMIM:600335
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Pleural effusion, Respiratory failure	ORPHA:542323
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Atelectasis, Cryptorchidism, Pulmonary artery atresia, Pulmonary h...	OMIM:620371
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Bruising susceptibility, Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hy...	ORPHA:536467
Fucosidosis	Vascular skin abnormality, Abnormality of the gallbladder, Hypothyroidism, Hepatomegaly, Acrocyan...	ORPHA:349
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Esophageal Atresia	Bronchitis, Respiratory distress, Cyanosis, Episodic respiratory distress, Maternal diabetes, Rec...	ORPHA:1199
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t...	OMIM:602450
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Diabetes mellitus, Respiratory failure, Respiratory insufficiency	OMIM:613845
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Respiratory failure	ORPHA:98905
Alg1-Cdg	Respiratory failure	ORPHA:79327
Mercury Poisoning	Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Moebius Syndrome	Respiratory distress, Decreased testicular size, Hypogonadotropic hypogonadism	OMIM:157900
Neuroblastoma	Respiratory distress, Elevated circulating catecholamine level, Increased circulating lactate deh...	ORPHA:635
Chitayat Syndrome	Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Tela...	OMIM:608799
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Respiratory failure	OMIM:606612
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Respiratory distress, Hepatic steatosis, Neonatal death, Hepatomegal...	OMIM:231680
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count	OMIM:613496
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio...	ORPHA:508533
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Abnormality of the liver	ORPHA:254864
Breath-Holding Spells	Cyanosis	OMIM:607578
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
22Q11.2 Deletion Syndrome	Cholelithiasis, Atelectasis, Abnormal lung lobation, Cryptorchidism, Hypoplasia of the thymus, Hy...	ORPHA:567
Malaria	Respiratory distress	ORPHA:673
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In...	ORPHA:95430
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Chylothorax, Respiratory failure, Death in childhood	OMIM:620278
Carnitine Deficiency, Systemic Primary	Respiratory distress, Decreased carnitine level in liver, Elevated circulating aspartate aminotra...	OMIM:212140
Pemphigus Erythematosus	Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia	ORPHA:3309
Functioning Gonadotropic Adenoma	Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy...	ORPHA:91348
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia	OMIM:184260
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Cryptorchidism, Death in childhood	OMIM:619847
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea	ORPHA:247257
Pulmonary Arteriovenous Malformation	Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema, ...	ORPHA:2038
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase...	ORPHA:26793
Tuberous Sclerosis Complex	Pituitary adenoma, Generalized abnormality of skin, Respiratory distress, Pheochromocytoma, Pulmo...	ORPHA:805
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis	ORPHA:137914
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio	OMIM:618048
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism...	OMIM:614700
Triosephosphate Isomerase Deficiency	Cholelithiasis, Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory in...	OMIM:615512
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis, Decreased circulating nicotinamide adenine dinucleotide-cytochrome ...	OMIM:250800
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple	ORPHA:2519
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery, Hypercholesterolemia, Hypertriglyceridemia, Pulmo...	ORPHA:363618
46,Xx Sex Reversal 5	Increased serum testosterone level	OMIM:618901
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Recurrent lower respiratory tract infections, Atelectasis, Hypoventilation	ORPHA:258
Gaucher Disease, Perinatal Lethal	Hepatic failure, Respiratory distress, Hepatosplenomegaly, Apnea, Petechiae, Neonatal death, Hepa...	OMIM:608013
Relapsing Polychondritis	Erythema, Hepatitis, Atelectasis, Abnormal pattern of respiration, Dyspnea, Purpura	ORPHA:728
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Atelectasis, Pleural effusion, Decreased activity of NADPH oxidase, Hepatome...	OMIM:306400
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Cryptorchidism	ORPHA:3304
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure	OMIM:250940
Congenital Myasthenic Syndrome	Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress...	ORPHA:98914
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c...	ORPHA:226307
Robinow Syndrome	Decreased serum testosterone concentration, Cryptorchidism, Pulmonic stenosis	ORPHA:97360
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Elevated circulating hepati...	ORPHA:329178
Mgat2-Cdg	Respiratory distress, Hypoplastic nipples, Abnormality of the endocrine system, Reduced level of ...	ORPHA:79329
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Respiratory distress, Elevated circulating aspartate am...	OMIM:615595
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure	OMIM:603689
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Abnormality of thyroid physiology, Unilat...	OMIM:300968
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Ovarian Fibrothecoma	Abnormality of the ovary, Ovarian fibroma, Increased serum testosterone level, Abnormal circulati...	ORPHA:314478
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia, Cryptorc...	OMIM:607143
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased serum estradi...	ORPHA:99429
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Elevated circulating alkaline phosphatase concentratio...	OMIM:618188
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Cyanosis	ORPHA:391428
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Fructose-1,6-Bisphosphatase Deficiency	Elevated circulating hepatic transaminase concentration, Respiratory distress, Episodic tachypnea...	ORPHA:348
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cyanosis, Hepatomegaly,...	ORPHA:159
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Hypogonadism, Adrenal insufficiency, Hep...	ORPHA:300298
Chand Syndrome	Atelectasis	ORPHA:1401
Bloom Syndrome	Pneumonia, Decreased circulating IgG level, Bronchitis, Decreased circulating IgA level, Respirat...	ORPHA:125
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Recurrent respirato...	OMIM:211530
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in infancy, Recurrent ...	OMIM:618426
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Japanese Encephalitis	Abnormal pattern of respiration, Respiratory distress, Pulmonary edema, Irregular respiration, Pa...	ORPHA:79139
Radio-Renal Syndrome	Chylothorax, Pleural effusion, Respiratory failure	ORPHA:3015
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Laryngomalacia	Respiratory distress	OMIM:150280
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Sepsis In Premature Infants	Decreased liver function, Petechiae, Cyanosis, Hepatomegaly, Dyspnea, Jaundice, Nasal flaring, Pu...	ORPHA:90051
Congenital Tricuspid Valve Dysplasia	Respiratory failure, Anomalous pulmonary venous return, Respiratory failure requiring assisted ve...	ORPHA:555874
Fibrous Dysplasia Of Bone	Precocious puberty in females, Increased circulating cortisol level, Hypercalcemia, Thyroid carci...	ORPHA:249
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Hepatomegaly, Recurrent respiratory infections	OMIM:619383
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia	OMIM:619708
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Bronchiectasis	OMIM:606763
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Decreased serum testosterone concentration, Cryptorchidism	ORPHA:495875
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea	ORPHA:86812
Double Outlet Left Ventricle	Cyanosis, Pulmonary artery stenosis, Tachypnea, Cryptorchidism	ORPHA:3427
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory failure, Neonatal death	OMIM:616482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Congestive heart failure, Lymphopenia, Hepatosplenomegaly, Autoimmune h...	ORPHA:391487
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leuk...	ORPHA:508542
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness	OMIM:606071
Tarp Syndrome	Cyanosis, Apnea, Cryptorchidism, Pulmonary hypoplasia	ORPHA:2886
Activated Pi3K-Delta Syndrome	Splenomegaly, B lymphocytopenia	ORPHA:397596
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood	OMIM:617186
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Respiratory distress, Cholestasis, Pleural effusion	ORPHA:292
Q Fever	Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Respiratory distre...	ORPHA:781
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle weakness	OMIM:220110
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:608836
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Meier-Gorlin Syndrome 6	Emphysema, Recurrent respiratory infections, Delayed puberty, Decreased response to growth hormon...	OMIM:616835
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular...	OMIM:256810
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Angioedema	ORPHA:100057
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Respiratory failure, Respiratory insufficiency	ORPHA:746
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hepatomegaly, Death in infancy, Irregular respiration	OMIM:604377
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Absence Of The Pulmonary Artery	Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Abnormal pulmonary thoraci...	ORPHA:980
Autosomal Recessive Cutis Laxa Type 1	Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia	ORPHA:90349
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Recurrent pneumonia, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:496641
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell...	OMIM:619652
Mucopolysaccharidosis-Plus Syndrome	Recurrent pneumonia, Recurrent respiratory infections, Respiratory distress, Death in childhood, ...	OMIM:617303
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone...	ORPHA:64739
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia	OMIM:202650
Histiocytoid Cardiomyopathy	Cyanosis, Polycystic ovaries, Pulmonary edema, Tachypnea, Hepatomegaly	ORPHA:137675
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa...	OMIM:233450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly	ORPHA:289916
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Paroxysmal dyspnea	ORPHA:444013
Muscular Dystrophy, Duchenne Type	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:310200
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Geleophysic Dysplasia 3	Pneumonia, Respiratory failure	OMIM:617809
Sarcoidosis, Susceptibility To, 1	Emphysema, Pleural effusion, Splenomegaly, Hepatomegaly, Abnormal pulmonary interstitial morpholo...	OMIM:181000
Peripartum Cardiomyopathy	Abnormality of thyroid physiology, Diabetes mellitus, Respiratory failure	ORPHA:563
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Abnormal circulating dehydroepiandrosterone concentration, Increased circul...	ORPHA:90794
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Decreased response to growth hormone stimulation test, Hypogonadotropic hyp...	ORPHA:177907
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly	ORPHA:79312
Sjogren Syndrome	Rheumatoid arthritis, Autoimmunity	OMIM:270150
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiorespiratory arrest, Acute pancreatitis, Respiratory failure	ORPHA:26791
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent ductus arteriosus, Respiratory failure	OMIM:620327
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti...	OMIM:245150
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Neoplasm of the pancreas, Adrenal pheochromocytoma, Pan...	ORPHA:892
Coccidioidomycosis	Pneumonia, Respiratory distress, Exudative pleural effusion, Abnormality of the liver, Parenchyma...	ORPHA:228123
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Respiratory failure, Amyotrophic lateral sclerosis	ORPHA:803
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea	ORPHA:31826
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Abnormal circulating enzyme concentration or activity, Hypoventilation, Exe...	ORPHA:98915
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax	OMIM:614816
Complete Atrioventricular Septal Defect	Recurrent pneumonia, Intercostal retractions, Cyanosis, Tachypnea, Hepatomegaly	ORPHA:1329
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Atrial Septal Defect, Ostium Primum Type	Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat...	ORPHA:99106
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Death in childhood, Death in infancy, Respiratory failure, Patent duct...	OMIM:610505
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly	ORPHA:927
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Meckel Syndrome 14	Hepatic fibrosis, Pneumothorax, Cyanosis, Pulmonary hypoplasia	OMIM:619879
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,...	ORPHA:2255
Diaphanospondylodysostosis	Respiratory distress, Abnormal liver lobulation, Pulmonary hypoplasia	OMIM:608022
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Angioedema, Respiratory...	ORPHA:3260
Eosinophilic Granulomatosis With Polyangiitis	Cutis marmorata, Abnormal pleura morphology, Pulmonary infiltrates, Purpura, Acrocyanosis, Recurr...	ORPHA:183
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Portal hypertension, Cryptorchidism, Hyp...	OMIM:620005
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Respiratory distress, Respiratory tract infection, Ecchymosis, Tachypnea	ORPHA:36234
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage, Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Toxic Epidermal Necrolysis	Erythema, Elevated circulating hepatic transaminase concentration, Respiratory distress, Acute he...	ORPHA:537
Isolated Right Ventricular Hypoplasia	Dyspnea, Hypoxemia, Cyanosis	ORPHA:439
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema	OMIM:261740
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Abnormal T cell count, Absent circulating ...	OMIM:307200
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Bile duct proliferation, Respiratory insufficiency	OMIM:618329
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Pulmonary edema, Dyspnea, Hepatomegaly	OMIM:115197
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev...	ORPHA:567983
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Pulmonary fibrosis	OMIM:612852
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu...	ORPHA:2298
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Respiratory distress, C...	OMIM:617156
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure	ORPHA:2707
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return	ORPHA:99104
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory failure, Respiratory tract infection, Respiratory failure requiring assist...	ORPHA:79138
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Neonatal death, Respiratory arrest, Respiratory failure, Patent ductus arteriosus	OMIM:617248
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Cyanosis	OMIM:619580
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Meier-Gorlin Syndrome 1	Respiratory distress, Breast hypoplasia, Emphysema, Cryptorchidism, Death in infancy	OMIM:224690
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Congenital Tracheal Stenosis	Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce...	ORPHA:141127
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Thyroid adenoma, Vasculitis, Lymphopenia, Hypersplenism, Thyroid car...	ORPHA:3261
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma...	ORPHA:185
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Cryptorchidism	ORPHA:1555
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea, Reduced hepatic N-acetylglutamate synthase activity	OMIM:237310
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth	OMIM:259720
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal circulating estrogen level, Bilateral cr...	ORPHA:90797
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia, Hepatic steatosis	OMIM:616271
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Arterial Tortuosity Syndrome	Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory failure	ORPHA:3342
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Cryptorchidism	OMIM:217980
Acquired Purpura Fulminans	Hepatic failure, Acrocyanosis, Macular purpura	ORPHA:49566
Necrotizing Enterocolitis	Apnea, Cyanosis	ORPHA:391673
Infantile Krabbe Disease	Respiratory failure	ORPHA:206436
Ellis Van Creveld Syndrome	Emphysema, Aplasia/Hypoplasia of the lungs	ORPHA:289
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea	ORPHA:99103
Craniofaciofrontodigital Syndrome	Premature skin wrinkling, Respiratory distress, Palmoplantar cutis laxa, Prominent superficial ve...	ORPHA:363705
Cocaine Intoxication	Diffuse alveolar hemorrhage, Increased circulating lactate dehydrogenase concentration, Respirato...	ORPHA:90068
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Lymphatic Malformation 7	Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion	OMIM:617300
Cryptococcosis	Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Cirrhosis, ...	ORPHA:1546
Achondroplasia	Respiratory distress, Death in infancy, Pulmonary hypoplasia	OMIM:100800
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure	OMIM:617301
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Respiratory distress, Apnea, Abnormal ci...	ORPHA:17
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR...	OMIM:130050
Multiple Mitochondrial Dysfunctions Syndrome 7	Apnea, Cyanosis, Decreased liver function	OMIM:620423
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Sarcoidosis	Abnormal pleura morphology, Hepatomegaly, Pleural effusion, Enlargement of parotid gland, Hypothy...	ORPHA:797
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Annular pancreas	ORPHA:210122
Stüve-Wiedemann Syndrome	Respiratory distress, Hypothyroidism, Apnea, Ectopic thyroid	ORPHA:3206
Congenital Fiber-Type Disproportion Myopathy	Aspiration pneumonia, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakne...	ORPHA:2020
47,Xyy Syndrome	Increased circulating gonadotropin level, Increased serum testosterone level, Macroorchidism, Cry...	ORPHA:8
Rajab Interstitial Lung Disease With Brain Calcifications 1	Emphysema, Abnormal pulmonary interstitial morphology, Respiratory failure, Respiratory insuffici...	OMIM:613658
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Hemothorax, Nasal mucosa te...	OMIM:187300
Alfadhel Syndrome	Nasal flaring	OMIM:620655
Neonatal Marfan Syndrome	Emphysema	ORPHA:284979
Poliomyelitis	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:2912
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Degeneration of anterior horn cells	OMIM:271225
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Increased serum testosterone level	ORPHA:247768
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Apnea, Cyanosis, Death in infancy, Hepatomegaly	OMIM:252010
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hepatomegaly, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Cardiogenic Shock	Cyanosis, Hepatomegaly, Orthopnea, Dyspnea, Hypoxemia	ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Cyanosis, Death in infancy	OMIM:617478
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Joubert Syndrome 21	Respiratory failure, Pulmonary hypoplasia	OMIM:615636
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent sinopulmonary infections, Respiratory failure, Recurrent respirato...	ORPHA:647
Generalized Arterial Calcification Of Infancy	Respiratory distress, Adrenal calcification, Cyanosis, Pancreatic calcification, Hepatic calcific...	ORPHA:51608
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C...	OMIM:616749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Fabry Disease	Emphysema, Hyperlipidemia, Left ventricular hypertrophy, Delayed puberty, Diabetes insipidus	ORPHA:324
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Purpura, Hepatomegaly, Acrocyanosis, Urticaria	ORPHA:343
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d...	OMIM:614437
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Pleural effusion, Pulmonary edema, Hyperhidrosis, Respiratory failure	ORPHA:340
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Cutis marmorata, Hyp...	ORPHA:51
Leigh Syndrome	Respiratory failure	ORPHA:506
Postinfectious Vasculitis	Pneumonia, Palpable purpura, Cutis marmorata, Orchitis, Vasculitis in the skin, Recurrent strepto...	ORPHA:48435
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Death in childhood	OMIM:613848
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Periorbital wrinkles, Respiratory distress, Aplasia/Hypoplastia of the eccrine swe...	OMIM:305100
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Pitt-Hopkins Syndrome	Abnormal pattern of respiration, Supernumerary nipple, Cryptorchidism, Hyperventilation, Acrocyan...	ORPHA:2896
Listeriosis	Pneumonia, Respiratory failure, Miscarriage	ORPHA:533
Dermatomyositis	Erythema, Elevated circulating hepatic transaminase concentration, Increased circulating lactate ...	ORPHA:221
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly	OMIM:251000
Heterotaxy, Visceral, 1, X-Linked	Total anomalous pulmonary venous return, Respiratory distress, Cyanosis, Biliary atresia, Bilater...	OMIM:306955
Adnp Syndrome	Respiratory distress, Recurrent upper respiratory tract infections, Cryptorchidism	ORPHA:404448
Hutchinson-Gilford Progeria Syndrome	Generalized abnormality of skin, Premature skin wrinkling, Delayed menarche, Cyanosis, Exertional...	ORPHA:740
Unilateral Polymicrogyria	Apnea, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Alg12-Cdg	Hypocholesterolemia, Cryptorchidism, Decreased serum insulin-like growth factor 1, Thrombocytopen...	ORPHA:79324
Rabson-Mendenhall Syndrome	Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Cardiomyopathy...	ORPHA:769
Alström Syndrome	Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased circulating T4 concentra...	ORPHA:64
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress	OMIM:619272
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Schinzel-Giedion Syndrome	Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Respiratory distress, Streak ovary...	ORPHA:798
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Respiratory distress, Cryptorchidism, Biliary hyperplasia,...	ORPHA:83617
Kniest Dysplasia	Respiratory distress	OMIM:156550
Familial Dysautonomia	Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections	ORPHA:1764
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure	ORPHA:254528
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Respiratory distress, ...	OMIM:615273
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros...	OMIM:201750
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Fraser Syndrome 2	Hypoplasia of the thymus, Respiratory failure	OMIM:617666
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Shwachman-Diamond Syndrome 1	Respiratory distress, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Stea...	OMIM:260400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea, Decreased circulating biotinidase concentration	ORPHA:79241
Abetalipoproteinemia	Hypothyroidism, Respiratory failure	ORPHA:14
Autosomal Dominant Cutis Laxa	Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis	ORPHA:90348
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Niemann-Pick Disease Type C	Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia	ORPHA:646
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Patent ductus arteriosus, Respiratory failure, Death in infancy	OMIM:300868
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia	OMIM:268320
Ulbright-Hodes Syndrome	Respiratory distress, Cryptorchidism, Pneumothorax, Maternal diabetes, Pulmonary hypoplasia	ORPHA:3404
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Cyan...	ORPHA:99125
Autosomal Recessive Polycystic Kidney Disease	Spontaneous pneumothorax, Respiratory failure, Recurrent pneumonia, Pulmonary hypoplasia	ORPHA:731
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity	OMIM:251110
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Hepatosplenomegaly	ORPHA:505248
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Pulmonary arter...	OMIM:610655
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis	OMIM:223900
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Pneumothorax, Respiratory failure	ORPHA:79404
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Rubinstein-Taybi Syndrome 1	Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Respiratory distress, Res...	OMIM:180849
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Cryptorchidism, Breast aplasia	ORPHA:2554
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Emphysema, Secretory IgA deficiency, Unilateral lung agenesis, P...	ORPHA:500150
8Q24.3 Microdeletion Syndrome	Respiratory distress, Ectopic posterior pituitary, Abnormal lung lobation	ORPHA:508488
Arboleda-Tham Syndrome	Respiratory distress, Recurrent aspiration pneumonia, Recurrent respiratory infections, Bilateral...	OMIM:616268
Marfan Syndrome	Emphysema, Pneumothorax, Pulmonary artery dilatation	OMIM:154700
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria	ORPHA:100050
Costello Syndrome	Pneumothorax, Respiratory failure, Respiratory insufficiency	OMIM:218040
Leptospirosis	Hepatitis, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Elevated serum transamin...	ORPHA:509
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Myhre Syndrome	Patent ductus arteriosus, Respiratory failure, Respiratory insufficiency	OMIM:139210
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Hypoplastic nipples, Delayed puberty, Abnormal circulating thyroid hormone ...	ORPHA:480880
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Apnea, Abnormality of Krebs cycle metabolism, Episodic respiratory distress, Hep...	ORPHA:255210
Osteoglophonic Dysplasia	Respiratory distress, Cryptorchidism	OMIM:166250
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia	OMIM:300755
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Elevated circulating t...	ORPHA:79318
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Pulmonary artery stenosis, Miscarriage, Respiratory failure, Pulmonary hypoplasia	ORPHA:96334
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Palmoplantar cutis laxa	OMIM:123790
Eisenmenger Syndrome	Respiratory distress, Abnormality of the liver, Cyanosis, Aortopulmonary window, Exertional dyspn...	ORPHA:97214
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Flushing	ORPHA:2131
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Conjunctival telangiectasia, Thrombocytopenia, B lymphocytopenia, T ...	OMIM:251260
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Erythema, Dyspnea, Abnormal testis morphology	ORPHA:2556
Marfan Syndrome	Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation	ORPHA:558
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis	OMIM:617239
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress	OMIM:183900
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Respiratory distress, Fragile skin, Abnormal pulmonary interstitial morphology, Recurre...	OMIM:614748
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Respiratory failure, Abnormal circulating calcium-phosphate regulating hormone concentration, Cry...	ORPHA:2636
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Jaundice	ORPHA:79282
Neuromuscular Oculoauditory Syndrome	Respiratory distress	OMIM:618733
Criss-Cross Heart	Cyanosis	ORPHA:1461
Kasabach-Merritt Phenomenon	Hypopnea, Respiratory distress, Petechiae, Hepatic hemangioma, Purpura	ORPHA:2330
Campomelic Dysplasia	Respiratory distress, Recurrent lower respiratory tract infections, Recurrent upper respiratory t...	OMIM:114290
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Respiratory failure, Cryptorchidism, Stillbirth	OMIM:304120
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, Vasculiti...	OMIM:619381
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Pneumonia, Elevated circulating hepatic transaminase concentration, General...	ORPHA:95455
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia	OMIM:164310
Primary Hyperoxaluria	Cutis marmorata, Elevated circulating hepatic transaminase concentration, Acrocyanosis	ORPHA:416
Proteus Syndrome	Pulmonary cyst, Bronchogenic cyst, Thymus hyperplasia, Abnormal lung lobation, Neoplasm of the th...	ORPHA:744
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis, Reduced hepatic alanine-glyoxylate aminotransferase activity	OMIM:259900
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Viss Syndrome	Pulmonary artery aneurysm, Emphysema, Hypothyroidism, Pneumothorax, Right ventricular hypertrophy	OMIM:619472
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Plague	Respiratory distress, Hepatomegaly, Acute infectious pneumonia	ORPHA:707
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring	ORPHA:466943
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc...	ORPHA:287
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly	OMIM:617088
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:3455
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level, Hypertriglyceridemia	OMIM:264090
Sotos Syndrome	Pulmonary bleb, Small cell lung carcinoma, Hypothyroidism	ORPHA:821
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis	OMIM:303600
Hypermobile Ehlers-Danlos Syndrome	Apnea, Acrocyanosis, Bruising susceptibility	ORPHA:285
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646

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 Nr3c1

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 Nr3c1.

No publications found that use IMPC mice or data for Nr3c1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Nr3c1^{tm42503(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nr3c1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nr3c1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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