Not currently registered for phenotyping at IMPC

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

Gene Summary

crumbs family member 3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Crb3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Crb3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Respirato... OMIM:263000
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Respiratory tract infection,... OMIM:619445
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Abnormal intestine morphology, Villous atrophy OMIM:251850
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium morphology, Chro... ORPHA:922
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Bronchiolitis, Abnormality of the kidney, Recurrent respiratory infec... OMIM:615993
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni... OMIM:612649
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia, Tubulointerstitial fi... OMIM:263200
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615505
Immunodeficiency 31C
Recurrent respiratory infections, Abnormal intestine morphology, Villous atrophy OMIM:614162
Diarrhea 9
Villous atrophy OMIM:618168
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613807
Ciliary Dyskinesia, Primary, 6
Sinusitis, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology, Cil... OMIM:610852
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Fanconi Renotubular Syndrome 5
Glycosuria, Emphysema, Proteinuria, Lung adenocarcinoma, Tubulointerstitial fibrosis, Aminoacidur... OMIM:618913
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613808
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Ciliary Dyskinesia With Excessively Long Cilia
Immotile cilia, Sinusitis, Abnormal respiratory motile cilium morphology, Airway obstruction, Chr... OMIM:242680
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration, Urinary incontinence OMIM:207720
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections, Ciliary dyskin... OMIM:215520
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Microglossia, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Clef... ORPHA:141152
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronc... OMIM:614679
Alport Syndrome
Proteinuria, Mesangial hypercellularity, Thin glomerular basement membrane, Microscopic hematuria... ORPHA:63
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Colon cancer, Large intestinal polyposis, Multiple pulmonary cysts, S... OMIM:135150
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic rhinitis, Cili... OMIM:612650
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Microvillus Inclusion Disease
Abnormality of small intestinal villus morphology, Nephrocalcinosis, Abnormal renal physiology, V... ORPHA:2290
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Ciliary Dyskinesia, Primary, 9
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchiectasis, Ciliary dyskine... OMIM:612444
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Chronic b... OMIM:616037
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Respiratory insufficiency, Recurrent respiratory infections, Pulmon... ORPHA:2111
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Late inspiratory crackl... ORPHA:2302
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent bronchitis, Ciliary dyskinesia, Recurrent sinusitis, Bronchiectasis, Ab... OMIM:613193
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Lacticaciduria, Increased mitochondrial number, Protein-losing ... OMIM:619063
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Acute kidney injury, Cough, Dyspne... ORPHA:140896
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Chronic sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dy... OMIM:612518
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Chronic b... OMIM:614874
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Jaundice, Poly... OMIM:231680
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumul... OMIM:265120
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing, Hepato... OMIM:613490
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Petechiae, Nephrotic syndrome, Gastrointestinal hemorrhage, Abnormality o... ORPHA:85450
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nephronophthisis 4
Stage 5 chronic kidney disease, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Ren... OMIM:606966
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Congenital Diaphragmatic Hernia
Intestinal malrotation, Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Diffuse alveolar hemorrhage, Villous atrophy OMIM:616050
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Colonic diverticula, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Colitis, Recurrent urinary tract infections, Malabs... OMIM:209920
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Absent outer dynein arms, Abnormal ciliary ... OMIM:614017
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Sinusitis, Immotile cilia, Chronic rhinitis, Nasal polypo... OMIM:242670
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Mesangial hypercellularity, Tachypnea, Pulmonary hemorrhage, Coug... OMIM:616414
Perching Syndrome
High palate, Dysphagia, Respiratory distress OMIM:617055
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Recurrent respiratory infections, Dysphagia, Respiratory ... ORPHA:77260
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Aganglionic megacolon, Abnormality of the small intestine, Enteroco... ORPHA:95427
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Pulmonary fibrosis, Villous atrophy OMIM:619510
Laryngotracheoesophageal Cleft
Cyanosis, Impaired oropharyngeal swallow response, Aspiration, Cough, Dyspnea, Recurrent respirat... ORPHA:2004
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Recurrent respiratory infections, Respiratory distress, Death in inf... OMIM:184260
Primary Pulmonary Hypoplasia
Cyanosis, Ureteral stenosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath s... ORPHA:2257
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... ORPHA:2869
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound,... ORPHA:1302
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Netherton Syndrome
Asthma, Allergic rhinitis, Abnormal intestine morphology, Intestinal atresia, Villous atrophy OMIM:256500
Congenital Tracheal Stenosis
Cyanosis, Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, A... ORPHA:141127
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Absent inner ... OMIM:618801
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Villous atrophy OMIM:602579
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Proprotein Convertase 1/3 Deficiency
Malabsorption, Villous atrophy OMIM:600955
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Esophageal varix OMIM:232500
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615444
Cryofibrinogenemia, Familial Primary
Acrocyanosis, Transient nephrotic syndrome, Hematuria OMIM:123540
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Respiratory tract infection, Atel... ORPHA:70587
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Pneumonia, Hypoxemia, Airway obstruction, Reduced fo... ORPHA:1303
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Ta... ORPHA:79126
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Prune Belly Syndrome
Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Intestinal malrotation, Renal insuffi... ORPHA:2970
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Congenital Pulmonary Lymphangiectasia
Cyanosis, Gastroesophageal reflux, Pleural effusion, Cough, Pulmonary arterial hypertension, Chro... ORPHA:2414
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy OMIM:602114
Congenital Tufting Enteropathy
Abnormal small intestinal mucosa morphology, Anal atresia, Malabsorption, Villous atrophy, Elevat... ORPHA:92050
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:614935
Arima Syndrome
Occipital meningocele, Stage 5 chronic kidney disease, Tachypnea, Polycystic kidney dysplasia, Tu... OMIM:243910
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Pleural effusion, ... ORPHA:90362
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Cleft palate ORPHA:2901
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Dy... OMIM:254210
Ciliary Dyskinesia, Primary, 40
Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced expiratory volume in one second, A... OMIM:618300
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Nasal polyposis, Ciliary dyskinesia, Bronchiectasis, Recurrent respira... OMIM:606763
Myelomeningocele, Cleft palate, Respiratory distress, Multiple renal cysts ORPHA:66637
Trichohepatoenteric Syndrome 2
Colitis, Villous atrophy OMIM:614602
Fanconi Anemia, Complementation Group O
Renal cyst, Hydronephrosis, Anal atresia, Stage 5 chronic kidney disease, Rectal atresia OMIM:613390
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Pneumonia, Asthma, Colitis, Bronchiectasis, Inflammation of the large intest... OMIM:614700
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Cough, Dyspnea, Neoplasm of the lung, Stridor, Upper airway obstructio... ORPHA:142
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Gastroesophageal reflux, Cough, Br... ORPHA:2032
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Villous atrophy OMIM:601110
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Pulmonary hypoplasia, Multiple renal c... ORPHA:3033
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Abnormality of the ureter, Renal cyst, A... ORPHA:1834
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency,... ORPHA:1909
Immunodeficiency 17
Recurrent respiratory infections, Recurrent gastroenteritis, Abnormal intestine morphology OMIM:615607
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respirato... ORPHA:91359
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Absent inner and outer dynein arms, Neonatal respiratory distres... OMIM:618063
Isolated Polycystic Liver Disease
Respiratory insufficiency, Gastroesophageal reflux, Gastrointestinal hemorrhage, Multiple renal c... ORPHA:2924
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Dy... OMIM:605809
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Polycystic kidney dysplasia, Death in childhood, Aminoaciduria, Apnea, Cleft palate OMIM:214110
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Dyspnea OMIM:174050
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Pancreatic cysts, Intestinal malrotation, Polycystic kidney dy... OMIM:208540
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Gastroesophageal reflux, Respiratory failure, Dyspha... OMIM:614399
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Polycystic kidney dysplasia, Recurrent urinary tract... ORPHA:731
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Renal dysplasia, Respiratory distress, Abnormal renal corticomedullary diff... OMIM:616733
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Renal hypoplasia/aplasia, Respiratory insufficiency, Vesicou... ORPHA:1166
Abnormal respiratory system physiology, Sinusitis, Abnormal jejunum morphology, Pneumonia, Bronch... ORPHA:449280
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Renal cyst, Renal hypoplasia, Short uvula, Polycystic kidney dysplasia, Cleft palate... OMIM:614091
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasi... ORPHA:1988
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Enlarged kidney, Ureteral duplication, Hydronephrosis, Respiratory failure, Respirat... OMIM:608836
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chr... OMIM:613095
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Protein-losing enteropathy, Chronic sinusitis OMIM:613502
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Proteinuria, Asthma, Increased intestinal transit time, Ileoileal... OMIM:619377
Branchiootorenal Syndrome 1
Renal agenesis, High palate, Bifid uvula, Renal malrotation, Intestinal malrotation, Polycystic k... OMIM:113650
Pulmonary Alveolar Microlithiasis
Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis, Cyanosis, Respiratory ... ORPHA:60025
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Glomerulonephritis, Villous atrophy OMIM:304790
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Dysph... ORPHA:254875
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:263210
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Lacticaciduria, Restrictive ventilatory defect, Respiratory failure, P... ORPHA:26791
Refractory Celiac Disease
Jejunitis, Malabsorption, Protein-losing enteropathy, Villous atrophy ORPHA:398063
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Pulmonary interstitial lymphocyte infiltration OMIM:606367
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Neonatal death, Stillbirth, Pul... OMIM:236500
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Hypoxemia, Abnormal pulmonary vein morphology, Dif... ORPHA:199241
Esophageal Atresia
Aspiration, Gastrointestinal dysmotility, Anorectal anomaly, Dysphagia, Esophagitis, Barrett esop... ORPHA:1199
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Cyanosis, Emphysema, Recurrent upper respiratory trac... ORPHA:95430
Serkal Syndrome
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Hypoplasia of the bladder,... ORPHA:139466
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Respiratory distress, Acute kidney injury ORPHA:673
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Renal cyst, Colon cancer, Neoplasm of the rectum, Juvenile gastrointestinal... ORPHA:480536
Interstitial Lung Disease 1
Restrictive ventilatory defect, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
X-Linked Centronuclear Myopathy
High palate, Respiratory failure requiring assisted ventilation, Pneumonia, Recurrent respiratory... ORPHA:596
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Acute Lung Injury
Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Respiratory failure, Tachypnea, Dyspnea, Respi... ORPHA:178320
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Hematuria, Proteinuria, Asthma, ... ORPHA:183
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypo... OMIM:610978
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Esophagitis, Du... OMIM:619079
Distal Tetrasomy 15Q
High palate, Horseshoe kidney, Hydronephrosis, Dilatation of the renal pelvis, Abnormality of the... ORPHA:314588
Spondyloenchondrodysplasia With Immune Dysregulation
Restrictive ventilatory defect, Pneumonia, Tubulointerstitial fibrosis, Recurrent sinusitis, Recu... OMIM:607944
Thomas Syndrome
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydroureter, Intestinal malrotation, Hydronephrosis, Tracheoesophageal fistula, Anal atresia, Mul... ORPHA:2973
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure... ORPHA:36238
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Nasal polyposis, Ciliary dyskinesia, Bronchiectasis,... OMIM:244400
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:157
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Hydronephrosis, Aganglionic megacolon, Anal atresia, Vesicovaginal fistula,... OMIM:236700
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Cra... ORPHA:747
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Recurrent upper respiratory tract infections, Pneumonia, Micropenis, Multicystic kid... OMIM:300209
Laryngeal Abductor Paralysis
Cyanosis, Stridor, Dysphagia OMIM:150260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Bruising susceptibility, Nephrolithiasis, Polycystic ovaries, ... ORPHA:79259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown urine, Myoglobinuria, Polycystic ... ORPHA:228308
Joubert Syndrome 7
Renal cyst, Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Central apnea, Nephr... OMIM:611560
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Functional abnormality of the bladder, Bronchiectas... ORPHA:391487
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria, Respiratory distress ORPHA:26792
Myotubular Myopathy With Abnormal Genital Development
High palate, Penile hypospadias, Glandular hypospadias, Micropenis, Atelectasis, Respiratory dist... OMIM:300219
Alpha-Heavy Chain Disease
Malabsorption, Abnormality of the small intestine ORPHA:100025
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Increased fecal bile acid, Steatorrhea OMIM:613291
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Radio-Renal Syndrome
Renal agenesis, Chylothorax, Respiratory failure, Pleural effusion, High, narrow palate, Dyspnea,... ORPHA:3015
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea, O... ORPHA:98913
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Abnormality of the gastrointestinal tract, Nephrotic syndrome, Respiratory failure, Abnormality o... ORPHA:79327
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Intestinal malrotation, Hamartoma of tongue, Polycystic kidney dyspl... OMIM:613091
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Respiratory distress OMIM:300934
Choanal Atresia
Cyanosis, Tracheomalacia, Abnormal nasal mucus secretion, Recurrent respiratory infections, Upper... ORPHA:137914
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Intestinal malrotation, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Trigonocephaly 1
Long penis, Meckel diverticulum OMIM:190440
Netherton Syndrome
Emphysema, Ectopic kidney, Asthma, Hydronephrosis, Recurrent respiratory infections, Aminoaciduri... ORPHA:634
Trisomy 17P
High palate, Hydronephrosis, Hypoplasia of penis, Polycystic kidney dysplasia, Macroglossia, Clef... ORPHA:261290
Yellow Nail Syndrome
Sinusitis, Renal neoplasm, Biliary tract neoplasm, Cough, Bronchiectasis, Dyspnea, Pulmonary arte... ORPHA:662
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Dyspnea, Pulmonary arterial hypertension, Pulmonary v... OMIM:234810
Enlarged kidney, Bifid uvula, Ureteral hypoplasia, Asthma, Hydronephrosis, Gastroesophageal reflu... ORPHA:79328
Syndromic Diarrhea
Hepatoblastoma, Colitis, Renal hypoplasia, Peripheral pulmonary artery stenosis, Polycystic kidne... ORPHA:84064
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Hydronephrosis, Pyloric stenosis, Intestinal pseudo-obstruction, Congenit... OMIM:300048
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Bronchogenic Cyst
Bronchogenic cyst, Abnormal stomach morphology, Pneumonia, Abnormal pleura morphology, Pulmonary ... ORPHA:2357
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Congenital Alveolar Capillary Dysplasia
Intestinal malrotation, Hydronephrosis, Tracheoesophageal fistula, Aganglionic megacolon, Anal at... ORPHA:210122
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections, Stridor, Dy... OMIM:211530
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cyst, Pulmonary lymphangiomyomatosis, Respiratory failure, Chronic ki... ORPHA:805
Short Rib-Polydactyly Syndrome
Multiple glomerular cysts, Intestinal malrotation, Respiratory failure, Abnormality of the kidney... ORPHA:1505
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Respiratory failure requiring assisted ventilation, Macroglossia, Respiratory distre... ORPHA:254864
Pneumonia, Hypoxemia, Pulmonary hemorrhage, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Respiratory distress OMIM:614741
Succinic Acidemia
Respiratory distress OMIM:600335
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Respiratory failure, Chronic tubulo... OMIM:602088
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, High palate, Death in infancy, Respiratory distress OMIM:615042
Mungan Syndrome
Megaduodenum, Renal hypoplasia, Hypoperistalsis, Intestinal pseudo-obstruction, Barrett esophagus... OMIM:611376
Joubert Syndrome 35
Hydronephrosis, Sleep apnea, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary trac... OMIM:618161
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Hypoxemia, Intestinal malrotation, Mecke... ORPHA:2847
Joubert Syndrome 20
Respiratory insufficiency, Renal cyst OMIM:614970
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis OMIM:604571
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Intestinal atres... OMIM:615237
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Renal Fanconi syndrome, Hypercalciuria, Death in childhood, Complex or... OMIM:557000
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Acute kidney injury, Tachypnea, Respiratory failure, C... ORPHA:454836
Pulmonary Arteriovenous Malformation
Cyanosis, Hypoxemia, Pulmonary hemorrhage, Cough, Dyspnea, Pulmonary arterial hypertension, Pleur... ORPHA:2038
Toxic Epidermal Necrolysis
Intestinal perforation, Restrictive ventilatory defect, Gastrointestinal hemorrhage, Dysuria, Tra... ORPHA:537
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Tracheomalacia, Nephroblastomatosis, R... OMIM:608022
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Crackles, Usual interstitial pneumonia, Gastroesophageal ref... OMIM:614742
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias, Cleft palate OMIM:231060
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Respiratory distress, Death in childhood OMIM:615597
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Respiratory failure, Dyspnea, Recurrent respiratory infections,... ORPHA:2759
Systemic Sclerosis
Proteinuria, Abnormality of the small intestine, Gastrointestinal telangiectasia, Dysphagia, Barr... ORPHA:90291
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Goodpasture Syndrome
Cyanosis, Restrictive ventilatory defect, Increased DLCO, Reticular pattern on pulmonary HRCT, Pr... OMIM:233450
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Meckel diverticulum OMIM:300864
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Adenomatous colonic polyposis, Duodenal polypo... ORPHA:220460
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea, Renal cyst, Multiple renal cysts OMIM:614883
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon, Extrapulmonary sequestrum, Hypoplasia... OMIM:200995
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Bruising susceptibility, Micropenis, Volvulus, Subcutaneous h... ORPHA:335
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Gapo Syndrome
Tubulointerstitial fibrosis, Prominent scalp veins, High, narrow palate OMIM:230740
Sepsis In Premature Infants
Oliguria, Cyanosis, Abnormal respiratory system physiology, Petechiae, Gastrointestinal dysmotili... ORPHA:90051
Alpha-1-Antitrypsin Deficiency
Emphysema, Nephrotic syndrome ORPHA:60
Benign Familial Neonatal Epilepsy
Apnea, Gastroesophageal reflux, Circumoral cyanosis ORPHA:1949
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Ethylene Glycol Poisoning
Cyanosis, Renal tubular dysfunction, Decreased urine output, Hematuria, Tachypnea, Abnormal patte... ORPHA:31826
Joubert Syndrome 39
Hypopnea, Polycystic kidney dysplasia OMIM:619562
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Congenital Myasthenic Syndrome
Cyanosis, High palate, Gastroesophageal reflux, Central sleep apnea, Episodic respiratory distres... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Gastroesophageal reflux, Central sleep apnea, Episodic respiratory distres... ORPHA:98914
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Nephronophthisis, Bifid uvula, Renal cyst, Macroglossia, Renal dysplasia, Nephropath... OMIM:266920
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Apnea, Cyanosis, Renal steatosis OMIM:261680
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Megacystis, Microcolon, Hypope... ORPHA:2241
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Abnormality of... ORPHA:2902
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias, Cleft palate OMIM:614175
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Pulmonary arterial hypert... OMIM:619003
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Duodenal stenosis, Abnormal lung morphology, Vesicoureteral r... ORPHA:2470
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Birt-Hogg-Dubé Syndrome
Emphysema, Renal cell carcinoma, Pneumothorax, Pulmonary sequestration ORPHA:122
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea ORPHA:464453
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Upper airway obstruction ORPHA:100057
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Renal tubular atrop... OMIM:603860
Phelan-Mcdermid Syndrome
High palate, Gastroesophageal reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Ves... OMIM:606232
Caroli Disease
Cholangiocarcinoma, Esophageal varix, Jaundice, Polycystic kidney dysplasia ORPHA:53035
Vascular Hyalinosis
Hematochezia, Malabsorption, Protein-losing enteropathy OMIM:277175
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Aplasia/Hypoplasia of the lungs, Hydronephrosis, Tracheoesophagea... ORPHA:887
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Intestinal malrotation, Hamartoma of tongue, Polycystic kidney dysplasia, Microglossi... OMIM:263520
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Respiratory insufficiency, Intestinal malrotation, Meningocele ORPHA:1759
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Duodenal stenosis, Hydroureter, Abno... ORPHA:2547
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Abnormal intestine morphology, Death in infancy, ... ORPHA:1318
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Renal agenesis, Rectovaginal fistula, Horseshoe kidney, Microgastria, Crossed fuse... ORPHA:2538
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Cystic renal dysplasia, Horseshoe kidney, Microgastria, Intestinal mal... OMIM:156810
Trichohepatoenteric Syndrome 1
Bifid uvula, Renal cortical microcysts, Galactosuria, Villous atrophy, Hypospadias OMIM:222470
Emphysema, Chylothorax, Renal angiomyolipoma, Restrictive ventilatory defect, Renal neoplasm, Gas... ORPHA:538
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Asthma, Allergic rhinitis, Dysphagia, Pr... ORPHA:2070
Sinusitis, Hypersensitivity pneumonitis, Pneumonia, Abnormality on pulmonary function testing, As... ORPHA:1163
Thyroid Lymphoma
Dyspnea, Stridor, Upper airway obstruction, Dysphagia, Respiratory distress ORPHA:97285
Spinocerebellar Ataxia, X-Linked 3
Gastroesophageal reflux, Episodic respiratory distress, Recurrent respiratory infections, Episodi... OMIM:301790
Chitayat Syndrome
Recurrent respiratory infections, Respiratory distress, Tracheomalacia, Abnormal pulmonary inters... OMIM:617180
Abnormality of the ureter, Intestinal malrotation, Meckel diverticulum, Abnormality of the pulmon... ORPHA:1666
Pfeiffer Syndrome Type 3
High palate, Horseshoe kidney, Tracheomalacia, Intestinal malrotation, Hydronephrosis, Anal atres... ORPHA:93260
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Recurrent pneumonia, Nephrotic syndrome, Proteinuria, Macroglossia, Death in chi... OMIM:617303
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Breath-Holding Spells
Cyanosis OMIM:607578
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia OMIM:610199
Cocaine Intoxication
Intestinal perforation, Diffuse alveolar hemorrhage, Hematuria, Proteinuria, Acute kidney injury,... ORPHA:90068
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Acute kidney injury, Gast... ORPHA:801
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis, Cleft palate OMIM:181180
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Increased DLC... ORPHA:90060
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Dysuria, Hydronephrosis, Multicystic kidney dysplasia, Recurrent u... ORPHA:79404
Fryns Syndrome
High palate, Ectopic anus, Intestinal malrotation, Gastroesophageal reflux, Hydronephrosis, Agang... ORPHA:2059
Arnold-Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Pneumonia, Inspiratory stridor, Dysphagia, Neurogenic bladder, Apnea,... ORPHA:1136
Penile Agenesis
Fetal pyelectasis, Rectal fistula, Urethral atresia, male, Cystic renal dysplasia, Urethral fistu... ORPHA:49
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
22Q11.2 Deletion Syndrome
Occipital myelomeningocele, Gastrointestinal hemorrhage, Purpura, Renal hypoplasia, Asthma, Gastr... ORPHA:567
Immunodeficiency 87 And Autoimmunity
Increased fecal calprotectin level, Pleural effusion, Pulmonary arterial hypertension, Perianal d... OMIM:619573
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Urethral diverticulum, Pyelonephritis, Small bowel diverticula, P... ORPHA:90349
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Renal hypoplasia, Peripheral pulmonar... OMIM:610205
Lymphoid Interstitial Pneumonia
Enlarged kidney, Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural interstitial thi... ORPHA:79128
Meckel Syndrome, Type 6
Renal cyst, Horseshoe kidney, Hepatic cysts, Pulmonary hypoplasia, Aplasia of the bladder, Cleft ... OMIM:612284
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Gastroesophageal reflux, Dyspnea, Pulmonary arterial hypertension, Dysphagia, Pulmonary... ORPHA:220393
Kleefstra Syndrome
Renal cyst, Tracheomalacia, Micropenis, Hydronephrosis, Gastroesophageal reflux, Hypoplasia of pe... ORPHA:261494
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Stillbirth, Pulmonary hypoplasia OMIM:615415
Double Outlet Right Ventricle
Cyanosis, Intestinal malrotation, Tachypnea, Submucous cleft hard palate, Pulmonary artery atresi... ORPHA:3426
Cystic Echinococcosis
Renal cyst, Asthma, Hepatic cysts, Urticaria, Pulmonary cyst, Jaundice, Multiple pulmonary cysts,... ORPHA:400
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Hypospadias, Cyanosis OMIM:250790
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Abnormality of the kidney OMIM:613730
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Renal agenesis, Pulmonary artery hypoplasia, Micropenis, Midgut malrotation, Cleft palate ORPHA:2326
Caroli Syndrome
Cholangiocarcinoma, Abnormality of the kidney, Jaundice, Polycystic kidney dysplasia, Esophageal ... ORPHA:480520
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Respiratory distress, Renal insufficiency ORPHA:289916
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Distal Monosomy 12Q
Ectopic kidney, Micropenis, Hydronephrosis, High, narrow palate, Polycystic kidney dysplasia, Eso... ORPHA:96149
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal neoplasm, Achalasia, Stage 5 ... ORPHA:1018
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Renal dysplasia, Cleft pa... ORPHA:2237
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Death in childhood... OMIM:243150
Renal Dysplasia-Limb Defects Syndrome
High palate, Renal hypoplasia, Respiratory failure, Renal dysplasia, Pneumothorax, Respiratory di... OMIM:266910
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Renal cyst, Respiratory failure OMIM:614862
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, High palate, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperpho... OMIM:220110
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Gastroesophageal reflux, Respiratory distress OMIM:618426
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency, Bilateral lung agenesis OMIM:601612
Mercury Poisoning
Acute kidney injury, Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Renal cyst, Dark urine, Steatorrhea ORPHA:79303
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pleural thickening, Asthma, Bronchiectasis, Pulmonary bulla, Recurrent lower res... OMIM:619632
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:488627
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Bladder diverticulum, Tracheomalacia, Hydronephrosis, Gastroesophageal reflux, Rectal ... OMIM:613177
Acrorenal-Mandibular Syndrome
Renal agenesis, High palate, Abnormality of the ureter, Polycystic kidney dysplasia, Aplasia of t... OMIM:200980
Micropenis, Respiratory distress ORPHA:370924
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Bladder diverticulum, Colonic diverticula OMIM:223330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal thickening, Exertional dysp... OMIM:614370
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Lobulated tongue, Renal hypoplasia, Anal atresia, Respiratory insufficiency, Cleft pa... OMIM:616300
Tarp Syndrome
Cyanosis, Tongue nodules, Horseshoe kidney, Abnormal duodenum morphology, Hydronephrosis, Glossop... ORPHA:2886
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Apneic episodes in infancy, Dysphagia, Meckel diverticulum ORPHA:163961
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Renal cyst, Multiple small medullary renal cysts, Es... OMIM:216360
Meckel Syndrome, Type 1
Renal agenesis, Abnormality of the ureter, Intestinal malrotation, Lobulated tongue, Anal atresia... OMIM:249000
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Inspiratory stridor, Dysphagia OMIM:207950
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Diverticulosis, Small-Intestinal
Ulcerative colitis, Jejunoileal diverticula, Duodenal diverticula, Jejunal diverticula OMIM:223320
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Multiple Carboxylase Deficiency
Organic aciduria, Tachypnea, Respiratory distress ORPHA:148
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Erythema, Respiratory acid... OMIM:614748
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Orofaciodigital Syndrome I
Tongue nodules, High palate, Myelomeningocele, Pancreatic cysts, Proteinuria, Lobulated tongue, H... OMIM:311200
Agnathia-Otocephaly Complex
Aglossia, Tracheomalacia, Microglossia, Respiratory distress, Cleft palate, Pulmonary hypoplasia OMIM:202650
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Glossoptosis, Respiratory insufficiency, Meningocele ORPHA:2031
Zellweger Syndrome
High palate, Hydronephrosis, Multicystic kidney dysplasia, Malabsorption, Pyloric stenosis, Respi... ORPHA:912
Hypoglossia With Situs Inversus
Microglossia, High palate, Upper airway obstruction, Respiratory distress OMIM:612776
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
Tetrasomy 5P
Cyanosis, High palate, Pulmonary arterial hypertension, Recurrent respiratory infections, Respira... ORPHA:3309
Hsd10 Disease, Infantile Type
Cyanosis, Gastrointestinal dysmotility, Abnormality of the lower urinary tract, Abnormal concentr... ORPHA:391428
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Dyspnea, Tracheobronchial leiomyomatosis, Thickened glomerular basement m... OMIM:308940
Hemorrhagic Fever-Renal Syndrome
Acute tubulointerstitial nephritis, Proteinuria, Hematemesis, Pulmonary edema, Petechiae, Ecchymo... ORPHA:340
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Oligosacchariduria, Respiratory failure, Resp... ORPHA:308552
Encephalopathy, Ethylmalonic
Acrocyanosis, Death in infancy, Petechiae, Ethylmalonic aciduria OMIM:602473
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplasia, Neonatal death, Anal at... OMIM:146510
Harrod Syndrome
High palate, Malrotation of small bowel, Renal cortical microcysts, Aganglionic megacolon, High, ... OMIM:601095
Synaptic Congenital Myasthenic Syndromes
High palate, Neonatal respiratory distress, Sleep apnea, Respiratory insufficiency, Pulmonary art... ORPHA:98915
Trisomy 13
Abnormality of the ureter, Hydronephrosis, High, narrow palate, Displacement of the urethral meat... ORPHA:3378
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, High palate, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Anal atresia ORPHA:3301
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Pulmonary hypoplasia, Multiple renal cysts ORPHA:1190
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Achalasia OMIM:252320
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... ORPHA:99931
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Proteinuria, Jaundice, Prolonged neonatal jaundice, Abnormal renal phy... OMIM:274150
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Glomerular sclerosis, Acute kidney injury, Proteinuria... ORPHA:93126
15q26 overgrowth syndrome
Renal agenesis, High palate, Horseshoe kidney, Hydronephrosis, Abnormality of the kidney, Duplica... DECIPHER:81
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Respiratory failure, 3-Methylglutaconic aciduria, Pneumothorax, Ren... ORPHA:445038
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Pneumonia, Colitis, Duodenal ulcer, Bronchiectasis, Villous atrophy, Anoperineal... OMIM:619381
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Renal cyst, Partial anomalous pulmonary venous return, Renal insufficiency, Death in in... OMIM:617478
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Ileus, Pneumonia, Nephrotic syndrome, Colitis, Interstitial pneumonitis, Tubulointerstitial nephr... ORPHA:37042
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983
Tachypnea, Elevated urinary epinephrine, Elevated urinary norepinephrine, Dysphagia, Respiratory ... ORPHA:3299
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Hydronephrosis, Anal atresia, Recurrent respiratory infections, Renal dysplasia, Res... OMIM:300968
Ulbright-Hodes Syndrome
High palate, Abnormal penis morphology, Renal hypoplasia, Respiratory failure, Polycystic kidney ... ORPHA:3404
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency, Death... OMIM:614922
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Reduced forced expiratory volume in one second, Intraalveolar pho... OMIM:300770
Fryns Syndrome
Renal agenesis, Chylothorax, Renal cyst, Stillbirth, Ureteral duplication, Intestinal malrotation... OMIM:229850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Renal insufficiency ORPHA:79312
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Cyanosis, Dicarboxylic aciduria, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Parotiti... ORPHA:51636
Hereditary Angioedema Type 1
Dermatographic urticaria, Abnormal soft palate morphology, Urticaria, Dyspnea, Inspiratory strido... ORPHA:100050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Glomerular sclerosis, Gastroesophageal reflux, Abnormal renal... OMIM:223900
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Airway obstruction, Hematuria, Proteinuria, Pleural ef... ORPHA:36412
Pneumonia, Pleural effusion, Respiratory distress, Cough ORPHA:3392
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress, High palate ORPHA:1145
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Morphological abnormality of the gastrointestinal tract, Nephrocalcinosis, Renal cyst, Hypercalci... ORPHA:369837
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis ORPHA:73246
Joubert Syndrome 21
Renal cyst, Dyspnea, Hyperechogenic kidneys, Apnea, Pulmonary hypoplasia OMIM:615636
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Genitopatellar Syndrome
Hydronephrosis, Gastroesophageal reflux, Multicystic kidney dysplasia, Apnea, Pulmonary hypoplasia ORPHA:85201
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Leigh Syndrome With Cardiomyopathy
Renal agenesis, Abnormal renal tubule morphology, Renal tubular acidosis, Respiratory failure, Re... ORPHA:70474
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Asthma, Respiratory failure, Hypospadias, Megacystis, Pulmonary arterial hyp... ORPHA:209905
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Respiratory distress ORPHA:89844
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydronephrosis, Abnormal lung lobation, Cleft palate, Intestinal malrotation, Dilatation of the r... OMIM:265380
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Micropenis, Hydronephrosis, Pulmonary lymphangiectasia, Protein-losing enteropathy, ... OMIM:235255
Moebius Syndrome
High palate, Bifid uvula, Micropenis, Dysphagia, Respiratory distress OMIM:157900
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, High, narrow palate OMIM:608799
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Respiratory distress, Dyspnea ORPHA:86812
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Floating-Harbor Syndrome
Epididymal cyst, Renal agenesis, Renal cyst, Nephrocalcinosis, Hydronephrosis, Gastroesophageal r... ORPHA:2044
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Pancreatic cysts, Proteinuria, Chronic kidney disease, Jaundice, Recurrent respirator... OMIM:208500
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Decrea... ORPHA:730
Protein-losing enteropathy, Macroglossia ORPHA:79320
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Recurrent respiratory infections, Respiratory distress, High palate ORPHA:329178
Holocarboxylase Synthetase Deficiency
Organic aciduria, Tachypnea, Respiratory distress ORPHA:79242
Mosaic Trisomy 9
High palate, Horseshoe kidney, Intestinal malrotation, Hydronephrosis, Hypoplasia of penis, Renal... ORPHA:99776
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, High palate, Hypospadias, Respiratory distress OMIM:619272
Common Variable Immunodeficiency
Emphysema, Gastrointestinal stroma tumor, Restrictive ventilatory defect, Pneumonia, Anal atresia... ORPHA:1572
Kaposiform Lymphangiomatosis
Bruising susceptibility, Enlarged kidney, Ecchymosis, Pancreatic cysts, Cough, Pleural effusion, ... ORPHA:464329
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyuria, Pleural effusion, Renal dysplasia, Protein-losing enteropathy OMIM:618183
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Complete Atrioventricular Septal Defect
Cyanosis, Recurrent pneumonia, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary... ORPHA:1329
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Intestinal malrotation, Lobulated tongue, Renal hypoplasia, Hamartoma of ... OMIM:269860
Pfeiffer Syndrome Type 2
High palate, Tracheomalacia, Intestinal malrotation, Anal atresia, Respiratory distress, Cleft pa... ORPHA:93259
Nabais Sa-De Vries Syndrome, Type 2
High palate, Sleep apnea, Gastroesophageal reflux, Multicystic kidney dysplasia, Bilateral cleft ... OMIM:618829
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Episodic tachypnea, Tachypnea, Respiratory distress, Anteriorly placed anus ORPHA:26793
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Nephrocalcinosis, Respiratory distress, Steatorrhea OMIM:260400
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Pyelonephritis, Renal cortical hyperechogenic... OMIM:619351
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheomalacia, Hypospadias, Respiratory distress, Neonatal respiratory distress, Anteriorly plac... OMIM:217980
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory insufficiency due to muscle weakness, Respiratory distress ORPHA:1143
Cornelia De Lange Syndrome 1
Hiatus hernia, High palate, Malrotation of colon, Ectopic kidney, Pneumonia, Reduced renal cortic... OMIM:122470
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Tac... ORPHA:555874
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Nephropathy, Hematuria, Renal insufficiency OMIM:611773
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Megacystis, Microcolon, Hydroureter, Neonatal death, Fetal megacystis OMIM:619362
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Abnormal respiratory system physiology, Airway obstruction, Tachypnea, Pulmonary artery... ORPHA:99106
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Prominent superficial veins, Gastrointestinal dysmotility, Palmoplan... ORPHA:363705
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Histiocytoid Cardiomyopathy
Cyanosis, Renal cyst, Polycystic ovaries, Tachypnea, Cough, Cleft palate, Pulmonary edema ORPHA:137675
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Interstitial emphysema, Dilatation of the renal pelvis, Bronchiectasis, Inf... OMIM:619708
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Respiratory distress, Macroglossia ORPHA:226313
Gaucher Disease, Perinatal Lethal
Dysphagia, Respiratory distress, Neonatal death, Apnea, Pulmonary hypoplasia OMIM:608013
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Ectopic kidney, Horseshoe kidney, Hydronephrosis, Pleural effusion, ... OMIM:235510