Gene Summary

transcription factor 21
epc,  epicardin,  capsulin,  Pod1,  Pod-1,  podocyte-expressed 1,  bHLHa23

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic growth retardation Tcf21em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta vasculature Tcf21em1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Tcf21em1(IMPC)Mbp HOM E15.5 0.00
edema Tcf21em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Tcf21em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Tcf21em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Tcf21em1(IMPC)Mbp HET E15.5 0.00
edema Tcf21em1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Tcf21 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 Tcf21 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Bardet-Biedl Syndrome 16
Abnormality of the kidney, Renal agenesis, Respiratory distress, Bronchiolitis, External genital ... OMIM:615993
Serkal Syndrome
Renal agenesis, Hypoplasia of the bladder, Oligohydramnios, Ventricular septal defect, Sex revers... ORPHA:139466
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypertension, Renal insufficiency, Hypogonadism, Narrow nasal bridge OMIM:618681
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Cryptorchidism, Ambiguous genitalia, Horseshoe kidney, Renal agenesis, Bifid ureter, Decreased nu... OMIM:617641
Decreased numbers of nephrons, Secundum atrial septal defect, Unilateral renal agenesis, Abnormal... ORPHA:2260
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Cystic renal dysplasia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly,... OMIM:615415
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Renal Tubular Dysgenesis
Polyhydramnios, Multiple renal cysts, Oligohydramnios, Proximal tubulopathy, Renotubular dysgenes... ORPHA:3033
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Nanophthalmos 2
Microphthalmia OMIM:609549
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Renal agenesis, Hypoplasia of the bladder, Oligohydramnios, Ventricular septal defect,... OMIM:611812
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Tubulointerstitial fibrosis, Recurrent uppe... OMIM:263000
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth, Pulmonary hypoplasia, Renal agenesis, Ureteral agenesis, Abnormal... OMIM:274210
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, Oligohydramnios, Renal hypoplasia, Renal dysplasia, Neonatal death, Pul... OMIM:236500
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Dyspnea, Cough, Follicular hyperplasia, Nodular pattern on pulmonary ... ORPHA:60026
Jeune Syndrome
Nephronophthisis, Nephropathy, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Renal ... ORPHA:474
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Hypertension, Abnormal renal corticomedullary differentiat... OMIM:616733
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Edema, Microphthalmia OMIM:616570
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cryptorchidism, Bulbous nose, Abnormal heart morphology, Renal hypoplasia, Hydronephrosis, Renal ... OMIM:618494
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Oligohydramnios, Enlarged kidney, Pulmonary insufficien... OMIM:602088
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
Edema OMIM:614103
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Cryptorchidism, Ventricular septal defect, Renal hypoplasia, Wide nasal bridge, H... ORPHA:2256
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Campomelic Dysplasia
Polyhydramnios, Apnea, Respiratory distress, Abnormal heart morphology, Sex reversal, Hydronephro... OMIM:114290
Cryptorchidism, Ambiguous genitalia, Microphallus, Adrenal hypoplasia, Enlarged kidney, Sex rever... OMIM:612651
Pallister-Hall-Like Syndrome
Short nose, Abnormal heart morphology, Death in infancy, Renal dysplasia, Pulmonary hypoplasia, M... OMIM:241800
Senior-Loken Syndrome
Nephronophthisis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Premature... ORPHA:3156
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Renal agenesis, Short nose, Anteverted nares, Renal hypoplasia, Laryngomalacia, H... ORPHA:171839
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Horseshoe kidney, Abnormality of the uterus, Renal hypo... ORPHA:2470
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Aapoaiv Amyloidosis
Cardiac amyloidosis, Abnormal lung morphology, Chronic pulmonary obstruction, Cardiac conduction ... ORPHA:439232
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Neonatal d... OMIM:619003
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Respiratory insufficiency, Bicornuate uterus, Pelvic kidney, Ag... OMIM:601186
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Sleep apnea, Renal hypoplasia, Pseudohypoparathyroidism, Laryngomalacia, Vesicour... ORPHA:464288
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Hyperoxemia, Abnormal respiratory system morph... ORPHA:70589
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Renal... OMIM:612946
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease, Hypoplastic left heart, Depressed nasal bridge OMIM:617661
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Respiratory insufficiency, Abnormality of the ureter, Aplasia/Hy... ORPHA:1046
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Meier-Gorlin Syndrome 8
Renal hypoplasia, Bilateral cryptorchidism OMIM:617564
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Underdeveloped nasal alae, Abnormal heart morphology, Oligohydramnios, Bicornuate... OMIM:263210
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Tonne-Kalscheuer Syndrome
Cryptorchidism, Abnormal heart morphology, Micropenis, Decreased testicular size, Wide nasal brid... OMIM:300978
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Proteinuria, Bicornuate uterus, Pancreatic hypoplasia, Abnormality of the... OMIM:137920
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Hemolytic anemia, Splenomegaly, Abnormal leukocyte morphology, Pallor ORPHA:228312
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Stillbirth OMIM:265880
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Tetralogy of Fallot, Micropenis, Prominent nose OMIM:617926
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Respiratory insufficiency, Neona... OMIM:228940
Renal Hypodysplasia/Aplasia 1
Oligohydramnios, Hypertension, Primary amenorrhea, Renal dysplasia, Vaginal atresia, Pulmonary hy... OMIM:191830
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Apnea, Central Sleep
Sleep apnea, Irregular respiration, Urinary incontinence, Abnormal pattern of respiration, Cyanosis OMIM:207720
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Hypoglossia With Situs Inversus
Upper airway obstruction, Polysplenia, Asplenia, Respiratory distress OMIM:612776
Odontochondrodysplasia 1
Nephronophthisis, Respiratory distress, Death in infancy, Pulmonary hypoplasia, Polycystic kidney... OMIM:184260
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cyst... OMIM:263200
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Renal insufficiency, Oligohydramnios, Chordee, Hypothyroidi... ORPHA:96179
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Meckel Syndrome 12
Oligohydramnios, Renal hypoplasia, Wide nasal bridge, Ureteral hypoplasia, Vaginal atresia, Renal... OMIM:616258
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis m... ORPHA:1548
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Wide nasal... OMIM:618316
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Bronch... ORPHA:244
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Short nose, Renal hypoplasia, Anteriorly displaced urethral m... OMIM:266810
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Dehydration, Delayed puberty, Female exte... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Dehydration, Delayed puberty, Female exte... ORPHA:168558
Joubert Syndrome 3
Nephronophthisis, Episodic tachypnea, Central apnea, Wide nasal bridge, Stage 5 chronic kidney di... OMIM:608629
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Maternal diabetes, Respiratory distress, Oligohydramnios, Renal hypoplasia, Renal... OMIM:266910
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis, Prominent nasal bridge, Abno... ORPHA:1745
Verheij Syndrome
Short nose, Renal hypoplasia, Wide nasal bridge, Renal cyst, Renal agenesis, Abnormal cardiac sep... OMIM:615583
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea, Hepatitis OMIM:219400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Caudal Regression Sequence
Cryptorchidism, Ambiguous genitalia, Maternal diabetes, Renal agenesis, Hypertension, Abnormality... ORPHA:3027
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Nanophthalmos 4
Microphthalmia OMIM:615972
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Bifid scrotum, Renal hypoplasia, Hypothyroidism, Telangiectasia of the skin, Wide... ORPHA:85321
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Bicornuate... OMIM:615524
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hypoplastic left heart OMIM:236110
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Renal salt wasting, Adrenocorticotropic hormone excess, Adrenal... OMIM:613743
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Genitopatellar Syndrome
Cryptorchidism, Apnea, Atrial septal defect, Scrotal hypoplasia, Multicystic kidney dysplasia, Pu... ORPHA:85201
Emanuel Syndrome
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Renal hypopl... OMIM:609029
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst, Abnormality of the kidney OMIM:615987
Image Syndrome
Cryptorchidism, Adrenal hypoplasia, Hydronephrosis, Hypospadias, Hypogonadism, Depressed nasal br... ORPHA:85173
Joubert Syndrome 15
Nephronophthisis, Micropenis, Ambiguous genitalia OMIM:614464
Rhyns Syndrome
Nephronophthisis, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Clitoral hypertrophy, Dysgerminoma, Hypospadias OMIM:613762
Severe Congenital Nemaline Myopathy
Polyhydramnios, Edema of the dorsum of hands, Pulmonary hypoplasia, Respiratory failure, Hypospad... ORPHA:171430
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Oligohydramnios, Ventricular septal defect, Bi... ORPHA:411709
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Rudiger Syndrome
Ovarian cyst, Ureterovesical stenosis, Death in infancy, Bicornuate uterus, Micropenis, Depressed... OMIM:268650
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Marden-Walker Syndrome
Cryptorchidism, Anteverted nares, Renal hypoplasia, Dextrocardia, Pulmonary hypoplasia, Hypospadi... OMIM:248700
Severe Acute Respiratory Syndrome
Dyspnea, Acute kidney injury, Respiratory distress, Cough, Acute infectious pneumonia, Respirator... ORPHA:140896
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Renal hypoplasia, Pulmonary hypoplasia, Renal cyst, Polycystic kidney dysplasia,... OMIM:614091
Nephroblastomatosis, Short nose, Oligohydramnios, Cystic renal dysplasia, Enlarged kidney, Nephro... OMIM:608022
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Short nose, Anteverted nares, Ventricular septal defect, Pleural... OMIM:616897
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Respiratory insufficiency, Respiratory failure, ... OMIM:253300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Neonatal death, Pulmonary hypoplasia, Wide nasal bridge OMIM:224410
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Pagod Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Arrhythmia, Situs inversus... ORPHA:991
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Microphallus, Bulbous nose, Laryngotracheomalacia, Anteverted nares, Renal hypopl... OMIM:618454
Emanuel Syndrome
Cryptorchidism, Infertility, Atrial septal defect, Truncus arteriosus, Oligohydramnios, Ventricul... ORPHA:96170
Acute Interstitial Pneumonia
Bronchiectasis, Reduced hematocrit, Reticulonodular pattern on pulmonary HRCT, Cyanosis, Lymphade... ORPHA:79126
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Hyperten... OMIM:610205
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Pallister-Hall Syndrome
Cryptorchidism, Hydroureter, Choanal atresia, Decreased testicular size, Micropenis, Precocious p... OMIM:146510
Bresek Syndrome
Cryptorchidism, Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Neonatal death, Ves... ORPHA:85284
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Proxima... OMIM:231680
Burn-Mckeown Syndrome
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Renal hypoplasia, Cho... OMIM:608572
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Episodic tachypnea, Central apnea, Renal cyst, Hypop... OMIM:608091
Autosomal Recessive Amelia
Polyhydramnios, Cryptorchidism, Scrotal hypoplasia, Aplasia/Hypoplasia of the lungs, Hypoplasia o... ORPHA:1027
Prune Belly Syndrome
Cryptorchidism, Atrial septal defect, Urogenital sinus anomaly, Abnormality of the uterus, Oligoh... ORPHA:2970
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Abnormality of the anterior pi... ORPHA:75389
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal hypoplasia, Renal insufficiency, Prominent nasal bridge, Proteinuria ORPHA:1307
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy OMIM:614096
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia ORPHA:2141
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Ambiguous genitalia, Renal hypoplasia, Respiratory insufficiency, Pulmonary hypop... OMIM:616300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Abnormality of medullary pyramid m... ORPHA:79243
Meckel Syndrome, Type 6
Bile duct proliferation, Pulmonary hypoplasia, Renal cyst, Abnormal internal genitalia OMIM:612284
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone... OMIM:400044
Gaucher Disease Type 2
Respiratory distress, Cough, Hepatomegaly, Splenomegaly, Abnormal pattern of respiration, Recurre... ORPHA:77260
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Abnormality of the urinary sy... ORPHA:90117
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Even-Plus Syndrome
Atrial septal defect, Short nose, Oligohydramnios, Renal hypoplasia, Recurrent urinary tract infe... OMIM:616854
Senior-Loken Syndrome 9
Nephronophthisis, Hypogonadism, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Respiratory insufficiency, Vesic... ORPHA:1166
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Primary amenorrhea, Recurre... OMIM:614962
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Pulmonary hy... ORPHA:314588
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Micropenis, Respiratory insufficiency ORPHA:370968
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Clitoral hy... OMIM:400045
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Micropenis, Hypoplasia of penis ORPHA:85274
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dyspnea, Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle weak... ORPHA:352447
Joubert Syndrome 7
Nephronophthisis, Episodic tachypnea, Central apnea, Renal cyst, Tachypnea, Neonatal breathing dy... OMIM:611560
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Pneumonia, Asplenia, Chro... OMIM:244400
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Cach Syndrome
Oligohydramnios, Renal hypoplasia, Primary amenorrhea, Secondary amenorrhea, Gonadal dysgenesis, ... ORPHA:135
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia, Tricuspid regurgitation OMIM:600151
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Breath-Holding Spells
Iron deficiency anemia, Cyanosis, Pallor OMIM:607578
Renal Tubular Dysgenesis
Oligohydramnios, Anuria, Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, ... OMIM:267430
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Nephronophthisis 15
Nephronophthisis OMIM:614845
Fanconi Anemia, Complementation Group F
Polyhydramnios, Cryptorchidism, Atrial septal defect, Microphallus, Renal hypoplasia, Pneumonia, ... OMIM:603467
Cystic Hamartoma Of Lung And Kidney
Pulmonary fibrosis, Respiratory insufficiency, Hypertension, Multicystic kidney dysplasia, Recurr... ORPHA:2111
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Cryptorchidism, Respiratory insufficiency, Nephrocalcinosis, Recurrent respirator... OMIM:615633
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Penile Agenesis
Cryptorchidism, Hydroureter, Bilateral renal agenesis, Abnormality of the bladder, Bilateral rena... ORPHA:49
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Unilateral renal agenesis, Biliary tract abnormality, A... OMIM:156810
Ulnar-Mammary Syndrome
Cryptorchidism, Arrhythmia, Abnormality of the uterus, Ventricular septal defect, Renal hypoplasi... ORPHA:3138
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Adrenal hypoplasia, Pulmonary hypoplasia, Nonimmune hydrops feta... OMIM:613124
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Hepatomegaly, Splen... ORPHA:2414
X-Linked Sideroblastic Anemia
Pallor, Dyspnea, Anemia, Splenomegaly ORPHA:75563
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Cryptorchidism, Delayed puberty, Hypothyroidism OMIM:616817
46,Xy Sex Reversal 9
Sex reversal, Ambiguous genitalia, Gonadal dysgenesis, Fused labia minora OMIM:616067
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Pulmonary hypoplasia OMIM:617194
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenos... OMIM:615382
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Polyhydramnios, Respiratory tract infection, Renal hypoplasia, Respiratory insufficiency, Uretero... OMIM:618975
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Renal hypoplasia, Hypothyroidism, Unilateral renal agenesis, Ectopic kidney, Broa... OMIM:616541
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Cryptorchidism, Abnormal respiratory system physiology, Scrotal hypoplasia, Pneum... ORPHA:98905
Cerebrofacioarticular Syndrome
Abnormal heart morphology, Renal hypoplasia, Lymphedema, Bilateral choanal atresia/stenosis, Trac... ORPHA:314679
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Vesico... ORPHA:209905
Hematuria, Cough, Multiple renal cysts, Ascites, Chylothorax, Chylopericardium, Renal neoplasm, A... ORPHA:538
Bardet-Biedl Syndrome 5
Hypogonadism, Micropenis, External genital hypoplasia OMIM:615983
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Wide nasal bridge, Micropenis, Tracheoesophageal fistula, Depressed nasal bridge OMIM:614083
Fraser Syndrome 2
Ambiguous genitalia, Underdeveloped nasal alae, Renal hypoplasia, Renal agenesis, Aplasia of the ... OMIM:617666
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
46,Xy Sex Reversal 4
Sex reversal, Gonadal dysgenesis OMIM:154230
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Ambiguous genitalia, Cystic renal dysplasia, Renal hypoplasia, Ventricular septal... OMIM:269860
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Respiratory distress, Ventricular septal defect, Pulmonary hypoplasia, Respi... OMIM:617895
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydroureter, Pedal edema, Rectovaginal fistula, Pulmon... OMIM:236700
Mosaic Trisomy 1
Polyhydramnios, Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Wide nasal b... ORPHA:1692
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Neutrophilia, Respiratory distress, Pleural empyema, Pulmonary pneu... ORPHA:36238
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Hypertension, Glycosur... OMIM:618913
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Asplenia, Hydronephrosis, Pulmonary arterial hypertension, Absent gallbladd... ORPHA:210122
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Stormorken Syndrome
Epistaxis, Thrombocytopenia, Asplenia, Anemia, Howell-Jolly bodies, Prominent nose OMIM:185070
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Laryngotracheomalacia, Renal hypoplasia, Aortic valve stenosis, Laryngeal w... OMIM:617660
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Cryofibrinogenemia, Familial Primary
Acrocyanosis, Hematuria, Transient nephrotic syndrome OMIM:123540
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Arrhythmia, Oligohydramnios, Abnormal aortic valve morphology, Death in infancy, ... ORPHA:1194
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Fryns Syndrome
Polyhydramnios, Cryptorchidism, Multicystic kidney dysplasia, Wide nasal bridge, Abnormal cardiac... ORPHA:2059
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Anteverted nares OMIM:613735
Short Rib-Polydactyly Syndrome
Polyhydramnios, Nephronophthisis, Multiple glomerular cysts, Urogenital sinus anomaly, Situs inve... ORPHA:1505
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bruising susceptibility, Recurrent respiratory infecti... ORPHA:3226
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Polyhydramnios, Hydrocele testis, Atrial septal defect, Short nose, Ureteral hypoplasia, Bladder ... OMIM:614080
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Czeizel-Losonci Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypoplastic nipples, Dextrocardia, Pulm... ORPHA:2437
Thanatophoric Dysplasia
Polyhydramnios, Atrial septal defect, Respiratory insufficiency, Increased nuchal translucency, P... ORPHA:2655
Van Maldergem Syndrome 2
Cryptorchidism, Bifid scrotum, Renal hypoplasia, Tracheomalacia, Wide nasal bridge, Hypospadias, ... OMIM:615546
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Chronic pulmonary obstruction, Dyspnea, Hepatocellular carcinoma, Panacinar ... OMIM:613490
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Hypoplasia of the bladder, Renal hypoplasia, Aplasia of the vagina,... OMIM:614527
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Renal cyst, Hypogonadism, Abnormality of the kidney OMIM:615982
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Bladder diverticulum, Wide nasal bridge, Laryngomalacia, Periorbital e... OMIM:613177
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Renal dysplasia, Urethral obstruction, Hypertrophy of the urinary bladder OMIM:601389
Cednik Syndrome
Congestive heart failure, Nephrotic syndrome, Hypogonadism, Prominent nasal bridge, Proteinuria ORPHA:66631
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation OMIM:609054
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Respiratory distress OMIM:300934
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Heterotaxy, Visceral, 1, X-Linked
Horseshoe kidney, Respiratory distress, Biliary atresia, Abdominal situs inversus, Polysplenia, A... OMIM:306955
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia, Anteverted nares OMIM:601163
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Avian Influenza
Ground-glass opacification, Dyspnea, Acute kidney injury, Respiratory distress, Pleural effusion,... ORPHA:454836
Atelosteogenesis Type I
Polyhydramnios, Multiple renal cysts, Laryngotracheal stenosis, Abnormal pancreatic duct morpholo... ORPHA:1190
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Craniosynostosis, Herrmann-Opitz Type
Short nose, Oligohydramnios, Aplasia/Hypoplasia of the lungs, Abnormality of the urethra, Abnorma... ORPHA:2145
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... OMIM:615234
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Respiratory insufficiency, Abnormality of the ureter ORPHA:2487
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Respiratory insufficiency, Pulmonary hypoplasia, Depressed nasal br... OMIM:256050
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Cryptorchidism, Apnea, Ambiguous genitalia, male, Bronch... OMIM:608800
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Cough, Eleva... OMIM:178500
Ulbright-Hodes Syndrome
Cryptorchidism, Maternal diabetes, Respiratory distress, Oligohydramnios, Renal hypoplasia, Abnor... ORPHA:3404
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Renal cyst, Death in infancy, Depressed nasal bridge OMIM:614862
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Pancreatic cysts, Death in infancy, Recurrent respiratory infections, Pa... OMIM:208500
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Hypertension, Renal cyst, Stage 5 chronic kidney dis... OMIM:216360
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Meier-Gorlin Syndrome 7
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal ... OMIM:617063
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Adrenal hypoplasia, Albuminuria, Ventricular septal defect, Clitoral hypertrophy,... OMIM:214100
2P21 Microdeletion Syndrome
Hypogonadism, Depressed nasal bridge, Nephrolithiasis, Cystinuria ORPHA:163693
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Vacterl Association With Hydrocephalus
Stillbirth, Abnormal heart morphology, Renal hypoplasia, Respiratory insufficiency, Respiratory f... OMIM:276950
Pentalogy Of Cantrell
Atrial septal defect, Renal agenesis, Ventricular septal defect, Absent gallbladder, Abnormal per... ORPHA:1335
Retinitis Pigmentosa 42
Pallor OMIM:612943
Mosaic Trisomy 9
Multiple renal cysts, Horseshoe kidney, Bulbous nose, Abnormal liver lobulation, Renal dysplasia,... ORPHA:99776
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Evans Syndrome
Dyspnea, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in pres... ORPHA:1959
Joubert Syndrome 21
Apnea, Dyspnea, Pulmonary hypoplasia, Renal cyst, Hyperechogenic kidneys, Single naris OMIM:615636
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Abnormal proporti... ORPHA:133
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Letterer-Siwe Disease
Dyspnea, Neutropenia, Thrombocytopenia, Jaundice, Anemia, Pulmonary infiltrates, Pallor, Hepatosp... OMIM:246400
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Cardiomyopathy, 3-Methylglutaconic aciduria, Renal cyst, Respiratory failure, Ren... ORPHA:445038
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Death in infancy, Neonatal death, Death in childhood, Respiratory failure, Hyposp... OMIM:619334
Autosomal Recessive Multiple Pterygium Syndrome
Cryptorchidism, Absence of labia majora, Scrotal hypoplasia, Abnormal aortic valve morphology, Ne... ORPHA:2990
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Macroscopic hematuria, Anemia, Re... OMIM:233450
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney, Diabetes mellitus, Prominent nasal bridge, Wi... ORPHA:94063
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Hematuria, Small vessel vasculitis, Dyspnea, Abnormal heart valve... ORPHA:36412
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Exertional dyspnea, Autoimmune hemolytic anemia, Splenomegaly, Pallor ORPHA:90037
Autoimmune Hemolytic Anemia
Dyspnea, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Abnormal leukocyte morphology, P... ORPHA:98375
Fraser Syndrome
Cryptorchidism, Underdeveloped nasal alae, Scrotal hypoplasia, Death in infancy, Vaginal atresia,... ORPHA:2052
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Radio-Renal Syndrome
Renal agenesis, Respiratory distress, Dyspnea, Pleural effusion, Multicystic kidney dysplasia, Re... ORPHA:3015
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Oligohydramnios, Absent external genitalia, Pulmonary hypoplasia, Hydronephrosi... OMIM:271520
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, Decreased mean cor... OMIM:611590
Pericardial effusion, Ascites OMIM:256150
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal agenesis, Single ventricle, Stillbirth, Adrenal hypoplasia, Pulmonary hypoplasia, Hydroneph... OMIM:308050
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal in... OMIM:614922
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Scrotal hypoplasia, Bicornuate uterus, Micropenis, Precocious puberty, Depressed ... OMIM:270400
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure, Patent ... OMIM:616867
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Apnea, Arrhythmia, Dilated cardiomyopathy, Bulbous nose, Olig... OMIM:608836
Acrocephalopolydactylous Dysplasia
Short nose, Cystic renal dysplasia, Enlarged kidney, Pancreatic fibrosis, Pulmonary hypoplasia, A... OMIM:200995
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weak... OMIM:611890
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
3-Methylglutaconic Aciduria, Type Viii
Apnea, Death in infancy, Respiratory failure, Bradycardia, 3-Methylglutaconic aciduria OMIM:617248
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Exertional dyspnea, Autoimmune hemolytic anemia, Chronic lymphatic leukem... ORPHA:90033
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Oligohydramnios, Vaginal fistula, Persistent cloaca, Pulmonary hypoplasia, Abnormality of female ... ORPHA:1112
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Oligohydramnios, Abnormality of the urinary sys... ORPHA:1834
Abnormal renal morphology, Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Decreased p... ORPHA:449280
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome ORPHA:60
Papillorenal Syndrome
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Myopathy, Left bundle branch block, Atrio... OMIM:115197
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Fetal Akinesia Deformation Sequence
Polyhydramnios, Cryptorchidism, Respiratory insufficiency, Pulmonary hypoplasia, Depressed nasal ... ORPHA:994
Tarp Syndrome
Cryptorchidism, Apnea, Atrial septal defect, Horseshoe kidney, Wide nasal bridge, Pulmonary hypop... ORPHA:2886
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Bifid scrotum, Choanal atresia, Penoscrotal transposition, Wide nasal bridge, Pul... OMIM:619148
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Bulbous nose, Decreased testicular size, Hypogonadism, Premature ovarian insuffic... ORPHA:261483
Mosaic Trisomy 16
Abnormal lung morphology, Horseshoe kidney, Atrial septal defect, Maternal diabetes, Abnormal hea... ORPHA:1708
Cornelia De Lange Syndrome 1
Cryptorchidism, Abnormal renal morphology, Ventricular septal defect, Renal hypoplasia, Choanal a... OMIM:122470
Cystic Echinococcosis
Ovarian cyst, Abnormal heart morphology, Abnormality of the testis size, Membranous nephropathy, ... ORPHA:400
Meacham Syndrome
Cryptorchidism, Crossed fused renal ectopia, Vaginal atresia, Aplasia/Hypoplasia of the lungs, Ab... ORPHA:3097
Acrorenal-Mandibular Syndrome
Absent nipple, Oligohydramnios, Unicornuate uterus, Abnormality of the ureter, Bicornuate uterus,... OMIM:200980
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Moebius Syndrome
Abnormal nasopharynx morphology, Respiratory distress, Hypogonadotropic hypogonadism, Decreased t... OMIM:157900
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Pulmonary hypoplasia, ... ORPHA:250999
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Death in infancy, Aminoaciduria, Adrenal insufficiency, Respiratory failure, Rena... OMIM:619386
Retinitis Pigmentosa 60
Pallor OMIM:613983
Dermatitis, Atopic
Allergic rhinitis, Facial erythema, Asthma, Pallor, Dry skin OMIM:603165
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Retinitis Pigmentosa 81
Pallor OMIM:617871
Rhyns Syndrome
Nephronophthisis, Pituitary hypothyroidism, Chronic kidney disease, Renal insufficiency, Anterior... OMIM:602152
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia, Cyanosis OMIM:613977
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Vacterl/Vater Association
Polyhydramnios, Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genit... ORPHA:887
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Abnormality of the kidney, Atrial septal defect, Aspiration, Bifid scrotum, Ventr... OMIM:145410
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevated broncho... OMIM:610978
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias, Tracheomalacia, Wide nasal bridge OMIM:601390
Fryns Microphthalmia Syndrome
Neural tube defect, Microphthalmia, Anophthalmia OMIM:600776
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Respiratory insufficiency, Pulmonary hypoplasia, Recurrent respi... OMIM:255320
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Scimitar anomaly, Atrial septal defect, Bifid scrotum, Ventr... OMIM:618280
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Short nose, Respiratory distress, Laryngeal hypoplasia, Abnormality of the larynx... OMIM:217980
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Oligohydramnios, Renal hypoplasia, Neonatal respiratory distress, Ketonuria, Hypertrophic cardiom... OMIM:619053
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Cryptorchidism, Ambiguous genitalia, Bifid epiglottis, Hydrops fetalis, R... ORPHA:93271
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Respiratory distress, Scrotal hypoplasia, Death in childhood, Micropenis OMIM:615597
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Ren... OMIM:609053
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Laryngotracheal stenosis, Cough, Upper airway obstruction, Neoplas... ORPHA:142
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Dyspnea, Reticular pattern on pulmonary HRCT, Premature graying of h... OMIM:614742
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Ventricular septal defect, Unilateral renal agenesis, Hypogonadism, Gonadal dysge... ORPHA:3306
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Wide nasal bridge, Type II diabetes mellitus, Hypop... ORPHA:791
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Hydrops fetalis, Atrial septal defect, Ventricular septal defect, Abnormalit... OMIM:263520
Thrombocytopenia, Acute kidney injury, Anemia, Respiratory distress ORPHA:673
Microcytic anemia, Respiratory insufficiency, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hep... ORPHA:848
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hydronephrosis, Aplasia/Hypoplasia of ... ORPHA:3305
Hepatic Veno-Occlusive Disease
Renal insufficiency, Respiratory failure, Ascites ORPHA:890
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Pseudotrisomy 13 Syndrome
Cryptorchidism, Tricuspid atresia, Atrial septal defect, Adrenal hypoplasia, Ventricular septal d... OMIM:264480
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
Microphthalmia ORPHA:35612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Neutropenia, Thrombocytopenia, Subcutaneou... ORPHA:238459
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Diab... OMIM:608709
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Fryns Syndrome
Polyhydramnios, Cryptorchidism, Atrial septal defect, Renal agenesis, Stillbirth, Ventricular sep... OMIM:229850
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Decrease... OMIM:174000
Tetraamelia Syndrome 1
Urethral atresia, Renal agenesis, Choanal atresia, Pulmonary hypoplasia, Asplenia, Peripheral pul... OMIM:273395
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Nephrolithiasis, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618329
Right Atrial Isomerism
Abdominal situs ambiguus, Polysplenia, Asplenia, Pulmonary artery atresia, Total anomalous pulmon... OMIM:208530
Adams-Oliver Syndrome 6
Renal hypoplasia, Portal hypertension, Cutis marmorata, Hepatic fibrosis OMIM:616589
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Atrial septal defect, Respiratory distress, Focal segmental glomeruloscleros... OMIM:617303
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Ellis Van Creveld Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Atrial septal defect, Situs inv... ORPHA:289
Cryptorchidism, Scrotal hypoplasia, Micropenis, Respiratory distress ORPHA:370924
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Restrictive ventilatory defect, Abnormality of the hepatic vasculature, Dy... ORPHA:210136
Severe Generalized Junctional Epidermolysis Bullosa
Hydroureter, Recurrent urinary tract infections, Pneumonia, Duplicated collecting system, Abnorma... ORPHA:79404
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Netherton Syndrome
Emphysema, Aminoaciduria, Dehydration, Ectopic kidney, Hydronephrosis, Asthma, Recurrent respirat... ORPHA:634
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Acute kidney injury, Hypotension, Pleural effusion, Hypoxe... ORPHA:542323
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Acute kidney injury, Oligohydramnios, Enlarged kidney,... ORPHA:731
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Arrhythmia, Restrictive ventilatory defect, Cardiorespiratory arrest, Dyspnea, Ab... ORPHA:26791
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Short nose, Abnormal heart valve morphology, Hypoplastic frontal sinuses, P... ORPHA:90652
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Leukocytosis, Pleural effusion,... ORPHA:3392
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hydrocele testis, Hematuria, Acute kidney injury, Renovascu... ORPHA:49041
Achondrogenesis Type 2
Pulmonary hypoplasia, Edema, Cardiorespiratory arrest ORPHA:93296
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Acute kidney injury, Intracranial hemorrhage, H... ORPHA:449285
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease, Ventricular septal defect OMIM:615630
Mercury Poisoning
Dyspnea, Acute kidney injury, Respiratory distress, Interstitial pneumonitis, Hypotension, Hypert... ORPHA:330021
Optic Atrophy 9
Pallor OMIM:616289
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Cryptorchidism, Abnormality of the larynx, Multicystic kidney dysplasia, Vaginal ... ORPHA:3301
Fraser Syndrome 1
Cryptorchidism, Laryngeal atresia, Underdeveloped nasal alae, Midline nasal groove, Renal hypopla... OMIM:219000
Oculoauriculovertebral Spectrum With Radial Defects
Maternal diabetes, Laryngeal stridor, Aplasia/Hypoplasia of the lungs, Vesicoureteral reflux, Atr... ORPHA:2549
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Peripheral edema, Syncope, Atrial fibrillation, Abnormal left ventri... ORPHA:75249
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria, Cardiomyopathy, Respirato... ORPHA:26792
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Atrial septal defect, Pulmonary hypoplasia, Micropenis, Depresse... OMIM:616546
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent nasal bridge, Laryngeal hypoplasia, Absent gallbladder, Complete atrioventricular canal de... OMIM:617925
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Pallor, Lymphadenopathy ORPHA:56425
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Polyhydramnios, Situs inversus totalis, Respiratory distress, Hypoplasia of penis, Aplasia/Hypopl... ORPHA:990
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Esophageal Atresia
Polyhydramnios, Laryngotracheomalacia, Choanal atresia, Abnormal external genitalia, Maternal dia... ORPHA:1199
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neona... OMIM:245400
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Adrenal hypoplasia, Underdeveloped nasal alae, Renal hypoplasia, Scrotal hypoplas... ORPHA:264200
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis, Central apnea ORPHA:71277
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Absence of labia majora, Hypoplastic nipples, Neonatal respiratory distress, Pulm... OMIM:265000
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Leukocytosis, Decreased pulmonary function, Rev... ORPHA:90051
Toxic Epidermal Necrolysis
Dysuria, Restrictive ventilatory defect, Abnormal vagina morphology, Gastrointestinal hemorrhage,... ORPHA:537
Genitopatellar Syndrome
Polyhydramnios, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Micropenis, Scro... OMIM:606170
Congenital Tracheal Stenosis
Polyhydramnios, Abnormal lung lobation, Abnormality of the kidney, Abnormal lung morphology, Whee... ORPHA:141127
22Q11.2 Deletion Syndrome
Polyhydramnios, Cryptorchidism, Bulbous nose, Choanal atresia, Vesicoureteral reflux, Corneal neo... ORPHA:567
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Bardet-Biedl Syndrome
Cryptorchidism, Hypertension, Multicystic kidney dysplasia, Nephrotic syndrome, Hypoplasia of pen... ORPHA:110
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Adrenal hypoplasia, Hypoplasia of the bladder, Oligohy... OMIM:249000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Nephrocalcinosis, Cholelithiasis, Chronic active hepatitis OMIM:240300
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Carcinoid tumor, Chronic kidney disease, Parathyroid adenoma, Renal i... ORPHA:805
Sweeney-Cox Syndrome
Asplenia, Choanal atresia, Underdeveloped nasal alae, Wide nasal bridge OMIM:617746
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Proximal tubulopathy, Extramedullary hemato... ORPHA:231222
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Elevated pulmonary artery pressure,... OMIM:619351
Peripheral Cone Dystrophy
Pallor OMIM:609021
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopa... ORPHA:824
Thoracoabdominal Syndrome
Renal agenesis, Ectopia cordis, Pulmonary hypoplasia, Hypospadias, Transposition of the great art... OMIM:313850
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Renal cell carcinoma, Parathyroid adenoma, Pneumothorax, Medu... ORPHA:122
Neurofaciodigitorenal Syndrome
Bifid nose, Unilateral renal agenesis, Midline defect of the nose OMIM:256690
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Abnormal nasopharynx morphology, Atrial septal def... OMIM:607323
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Joubert Syndrome 6
Nephronophthisis, Bile duct proliferation, Breathing dysregulation, Stage 5 chronic kidney disease OMIM:610688
Acro-Renal-Mandibular Syndrome
Oligohydramnios, Bicornuate uterus, Pulmonary hypoplasia, Uterus didelphys, Renal hypoplasia/apla... ORPHA:958
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Rhini... ORPHA:507
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi...