Gene Summary

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

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
microphthalmia Tcf21em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Tcf21em1(IMPC)Mbp HOM E15.5 0.00
abnormal kidney morphology Tcf21em1(IMPC)Mbp HET Early adult 0.00
abnormal ovary morphology Tcf21em1(IMPC)Mbp HET Early adult 0.00
small spleen Tcf21em1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Tcf21em1(IMPC)Mbp HOM E15.5 0.00
edema Tcf21em1(IMPC)Mbp HET E15.5 0.00
anophthalmia Tcf21em1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Tcf21em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Tcf21em1(IMPC)Mbp HET   Early adult 0.00
preweaning lethality, complete penetrance Tcf21em1(IMPC)Mbp HOM   Early adult 0.00
edema Tcf21em1(IMPC)Mbp HOM E15.5 0.00
abnormal spleen morphology Tcf21em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Tcf21em1(IMPC)Mbp HET Early adult 0.00
enlarged testis Tcf21em1(IMPC)Mbp HET Early adult 0.00
increased circulating calcium level Tcf21em1(IMPC)Mbp HET Early adult 5.06×10-05
microphthalmia Tcf21em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Tcf21em1(IMPC)Mbp HET E15.5 0.00
abnormal eye morphology Tcf21em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Tcf21em1(IMPC)Mbp HET   Early adult 3.61×10-05
abnormal placenta vasculature Tcf21em1(IMPC)Mbp HOM E15.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

30 Images

Gross Morphology Embryo E14.5-E15.5


21 Images


XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Serkal Syndrome
Hypoplasia of the bladder, Ventricular septal defect, Sex reversal, Renal agenesis, Pulmonary hyp... ORPHA:139466
Bardet-Biedl Syndrome 16
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, External genital hypoplasia, Renal... OMIM:615993
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Renal Hypoplasia
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... ORPHA:93101
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, 3-Methylglutaconic aciduria, Neonatal death, Pulmonary hypoplasia OMIM:615228
Renal Tubular Dysgenesis
Polyhydramnios, Proximal tubulopathy, Pulmonary hypoplasia, Oligohydramnios, Nephropathy, Multipl... ORPHA:3033
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Bilateral lung agenesis, Sex reversal, Adre... OMIM:611812
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia, Bilateral renal agenesis OMIM:615721
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res... OMIM:263000
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia, Bilateral renal agenesis OMIM:619887
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Abnormal lung lobation, Pulm... OMIM:615415
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Left ventricular hypertrophy, Respiratory distress, Pulmonary hypoplasia, Hypert... OMIM:616733
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary insufficiency, Stage 5 chronic kidney d... OMIM:602088
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Jeune Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Nephropathy, Nephronophthisis, Renal ... ORPHA:474
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia, Oligohydramnios ORPHA:3032
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Respiratory insufficiency, Vesicoureteral reflux, Ambiguous genitalia, Bifid ureter, Renal dyspla... OMIM:617641
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Cough, Mediastinal lymphadeno... ORPHA:60026
Bardet-Biedl Syndrome 19
Ventricular septal defect, Hypogonadism, External genital hypoplasia, Atrial septal defect, Hypop... OMIM:615996
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Chronic bronchitis, Hypogonadism, Stage 5 chronic kidney disease, N... OMIM:616629
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypertension, Hypogonadism OMIM:618681
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... ORPHA:439232
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Pulmonary hypoplasia, Oligohydramnios, Renal cyst, Stillbirth... OMIM:236500
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Diffuse Neonatal Hemangiomatosis
Anemia, Renal insufficiency, Renal hypoplasia/aplasia, Hypercalcemia, Hepatomegaly, Thrombocytope... ORPHA:2123
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Lacticaciduria,... OMIM:619003
Granulomatous Slack Skin
Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Pulmonary hypoplasia, Malformation of the hepatic d... OMIM:208540
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephroblastoma, Parathyroid adenoma, Papillary... OMIM:145001
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Jaundice, Enlarged kidney, Hepatocellular ... OMIM:619902
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Diffuse alveolar hemorrh... OMIM:614034
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/apla... ORPHA:1046
Matthew-Wood Syndrome
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Annular pancreas, Pulmonary hypoplasia... ORPHA:2470
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonproductive coug... ORPHA:2302
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
46,Xy Sex Reversal 4
Hydronephrosis, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic... OMIM:154230
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... ORPHA:70589
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... OMIM:610921
Microphthalmia, Syndromic 9
Respiratory insufficiency, Agenesis of pulmonary vessels, Bilateral lung agenesis, Pulmonary arte... OMIM:601186
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Stage 5 ... OMIM:137920
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Pallor, Dyspnea, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Stillbirth OMIM:265880
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Penile hypospadias, Bifid scrotum, Death in infancy, Bilateral cryptorchidism, Am... OMIM:300219
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Pulmonary artery atresia, Atrial septal defec... OMIM:612946
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Hyperparathyroidism, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Bicornuate uterus, Polycystic kidney dysplasia, Abnormal lung lobation, Pulmonary... OMIM:263210
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Anophthalmia, Bicornuate uterus OMIM:615524
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Apnea, Central Sleep
Cyanosis, Urinary incontinence, Irregular respiration, Abnormal pattern of respiration, Sleep apnea OMIM:207720
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Iris coloboma, Anophthalmia, Chorioretinal coloboma OMIM:616428
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test, Renal dysplasia, Premature... ORPHA:96179
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Primary Ciliary Dyskinesia
Asplenia, Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Pol... ORPHA:244
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Polyuria, Hypercalcemia, N... OMIM:616963
46,Xy Sex Reversal 6
Gonadoblastoma, Sex reversal, Clitoral hypertrophy, Hypospadias, Gonadal dysgenesis, Chordee, Dys... OMIM:613762
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... ORPHA:168558
Familial Male-Limited Precocious Puberty
Macroorchidism, Oligospermia, Precocious puberty, Long penis ORPHA:3000
Odontochondrodysplasia 1
Death in infancy, Polycystic kidney dysplasia, Pulmonary hypoplasia, Respiratory distress, Nephro... OMIM:184260
Hyperparathyroidism 4
Primary hyperparathyroidism, Nephrolithiasis, Hypercalcemia, Parathyroid carcinoma OMIM:617343
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Hypospadias, Recurrent respiratory infections, Abnormal testis m... ORPHA:1548
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Bicornuate uterus, Bilateral renal agenesis, Pulmonary hypoplasia, Hypertension,... OMIM:191830
Pallister-Hall-Like Syndrome
Death in infancy, Anterior hypopituitarism, Renal dysplasia, Pulmonary hypoplasia, Micropenis OMIM:241800
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:611638
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Hypoglossia With Situs Inversus
Asplenia, Polysplenia, Upper airway obstruction, Respiratory distress OMIM:612776
Tonne-Kalscheuer Syndrome
Decreased testicular size, Pulmonary hypoplasia, Hypospadias, Abnormal heart morphology, Cryptorc... OMIM:300978
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... ORPHA:50251
Meckel Syndrome, Type 8
Ambiguous genitalia, Anophthalmia, Enlarged kidney, Polycystic kidney dysplasia, Microphthalmia, ... OMIM:613885
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia, Intrauterine growth retardation OMIM:616570
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Meacham Syndrome
Pulmonary hypoplasia, Blind vagina, Septate vagina, Ventricular septal defect, Bicornuate uterus,... OMIM:608978
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Abnormal lung lobation, Hydronephrosis ORPHA:1745
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hypoplastic left heart OMIM:236110
Immunodeficiency 95
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... OMIM:619773
Caudal Regression Syndrome
Vesicoureteral reflux, Ambiguous genitalia, Renal agenesis, Maternal diabetes, Pulmonary hypoplas... ORPHA:3027
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... OMIM:265120
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, Pulmonary ... ORPHA:2257
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenocorticotropic hormone excess, Sex reversal, Adrenal insufficiency, Rena... OMIM:613743
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypospadias, Hypercalcemia, Cryptorchidism... OMIM:614732
Joubert Syndrome 15
Nephronophthisis, Ambiguous genitalia, Micropenis OMIM:614464
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Ventricular septal defect, Atrial septal defect, Respiratory failure, ... OMIM:253300
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HR... ORPHA:99931
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena... ORPHA:411709
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Anemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segme... OMIM:613092
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia, Hypopituitarism ORPHA:140976
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect, Shawl scrotum, Hypoplasia of penis, Cryptorchidism, Re... ORPHA:2256
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Premature ovarian insufficiency, Hypertension, Nephronophthisis, ... ORPHA:3156
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Severe Congenital Nemaline Myopathy
Polyhydramnios, Edema of the dorsum of hands, Pulmonary hypoplasia, Hypospadias, Respiratory fail... ORPHA:171430
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Polyhydramnios, Atrioventricular canal defect, Enlarged kidney, Pulmonary hypop... OMIM:314390
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive vent... ORPHA:1302
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Acute Interstitial Pneumonia
Cyanosis, Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Subpleural honey... ORPHA:79126
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Abnormality of medullary pyramid morphology, Ventricular septal de... ORPHA:79243
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Joubert Syndrome 4
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... OMIM:609583
Polyhydramnios, Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cr... OMIM:612651
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hyperparathyroidism, Hypercalcemia, Nephrocalcinosis, Hypercalciuria OMIM:239199
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusio... OMIM:616897
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... OMIM:263200
Marden-Walker Syndrome
Pulmonary hypoplasia, Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Micropenis OMIM:248700
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... OMIM:610913
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Polycystic kidney dysplasia, Pulmonary hypoplasia, Renal cyst, Hypospadias, Rena... OMIM:614091
Autosomal Recessive Amelia
Polyhydramnios, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Hypoplasia o... ORPHA:1027
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis ORPHA:171839
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Decreased fertility, Multicystic kidney dysplasi... ORPHA:2970
Severe Acute Respiratory Syndrome
Acute kidney injury, Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiri... ORPHA:140896
Emanuel Syndrome
Truncus arteriosus, Ventricular septal defect, Recurrent urinary tract infections, Pulmonic steno... OMIM:609029
Combined Oxidative Phosphorylation Deficiency 8
Reduced left ventricular ejection fraction, Death in infancy, Pulmonary hypoplasia, Congestive he... OMIM:614096
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Genitopatellar Syndrome
Multicystic kidney dysplasia, Pulmonary hypoplasia, Atrial septal defect, Apnea, Cryptorchidism, ... ORPHA:85201
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Decreased testicular size, Cry... ORPHA:85284
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Int... OMIM:614377
Emanuel Syndrome
Truncus arteriosus, Hypogonadism, Ventricular septal defect, Pulmonic stenosis, Infertility, Unil... ORPHA:96170
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia, Tricuspid regurgitation OMIM:600151
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Hematuria, Renal neoplasm, Lymphadenopathy, Hypercalcemia, Thrombo... ORPHA:69077
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Abnormal morphology of female internal genitalia ORPHA:2141
Familial Isolated Hyperparathyroidism
Primary hyperparathyroidism, Parathyroid adenoma, Hyperphosphaturia, Hypophosphatemia, Hypercalce... ORPHA:99879
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Vesicoureteral reflux, Pseudohypoparathyroidism, Cryptorchidism, Renal hypoplasia, Sleep apnea, A... ORPHA:464288
Ciliary Dyskinesia, Primary, 1
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit... OMIM:244400
Distal Tetrasomy 15Q
Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Pulmonary hypoplasia, Hyd... ORPHA:314588
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Pagod Syndrome
Sudden cardiac death, Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal testis morpholo... ORPHA:991
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Ventricular septal defect, Unilateral renal agenesis, Atrial septal defect,... OMIM:618494
Respiratory insufficiency, Enlarged kidney, Cystic renal dysplasia, Pulmonary hypoplasia, Respira... OMIM:608022
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Parachute mitral ... OMIM:618316
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Hypercalcemia, Infantile, 1
Medullary nephrocalcinosis, Polyuria, Hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Hypercalc... OMIM:143880
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Recurrent pneumonia, Decreased serum leptin, Recurrent u... OMIM:614962
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... OMIM:400044
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Ventricular septal defect, Posterior pituitary hypoplasia,... ORPHA:75389
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Micropenis, Cryptorchidism ORPHA:370968
Nephronophthisis 15
Nephronophthisis OMIM:614845
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:2414
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Testicular microlithiasis, Pneumothorax, Bronchiectasis, Oxygen desatu... ORPHA:60025
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough, Hepatomegaly, Recurrent respiratory... ORPHA:77260
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Atrial septal defect, Renal... OMIM:610205
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Breath-Holding Spells
Cyanosis, Iron deficiency anemia, Pallor OMIM:607578
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Hemosiderin-laden macrophages i... OMIM:616414
Macroorchidism, Long penis ORPHA:2477
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Pulmonary hy... OMIM:231680
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure, Aspiration pneumonia, Dyspnea, Cough, Abnormality of the urinary system, Res... ORPHA:90117
Cach Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Oligohydramnios, Gonadal dysgenesis, Prima... ORPHA:135
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Polyhydramnios, Ambiguous genitalia, Neonatal death, Patent foramen ov... OMIM:269860
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Blue Diaper Syndrome
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Blue urine, Hy... ORPHA:94086
Meckel Syndrome 14
Ambiguous genitalia, Pneumothorax, Polycystic kidney dysplasia, Pulmonary hypoplasia, Oligohydram... OMIM:619879
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... OMIM:610910
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Acute Myelomonocytic Leukemia
Anemia, Pallor, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Pituitary adenoma, Calcium... ORPHA:97289
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Hypogonadism, Cryptorchidism ORPHA:85274
Joubert Syndrome 7
Neonatal breathing dysregulation, Episodic tachypnea, Stage 5 chronic kidney disease, Renal cyst,... OMIM:611560
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Fetal pyelectasis, Pulmonary hypoplasia OMIM:616531
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Vesicoureteral reflux, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:1166
Oculoskeletodental Syndrome
Renal agenesis, Mucopolysacchariduria, Hypercalcemia, Hepatomegaly, Cryptorchidism, Hypocalcemia,... OMIM:618440
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Hypercalcemia, Nephroli... OMIM:145980
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... OMIM:619113
X-Linked Sideroblastic Anemia
Anemia, Dyspnea, Splenomegaly, Pallor ORPHA:75563
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Ventricular septal def... OMIM:146510
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Hypertension,... ORPHA:97362
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Tetralogy of Fallot, Micropenis OMIM:617926
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Respiratory insufficiency, Polyhydramnios, Cryptorchidism, Nephrocalcinosis, Recurrent respirator... OMIM:615633
Renal Tubular Dysgenesis
Respiratory insufficiency, Hypotension, Anuria, Pulmonary hypoplasia, Oligohydramnios, Abnormalit... OMIM:267430
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Dyspnea, Hypergonadotropic hypogonadism, Arrhythmia, Respiratory failure,... ORPHA:352447
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Bruising susceptibility, Epistaxis, Hypoplastic... OMIM:185070
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Pulmonary hypoplasia OMIM:617194
Campomelic Dysplasia
Polyhydramnios, Tracheobronchomalacia, Sex reversal, Respiratory distress, Apnea, Hypospadias, Re... OMIM:114290
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... ORPHA:70587
Fanconi Anemia, Complementation Group F
Vesicoureteral reflux, Polyhydramnios, Decreased response to growth hormone stimulation test, Mic... OMIM:603467
Denys-Drash Syndrome
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Neonatal ... OMIM:194080
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Pleural... OMIM:617397
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Meckel Syndrome, Type 6
Absent gallbladder, Pulmonary hypoplasia, Renal cyst, Bilobed right lung, Bile duct proliferation... OMIM:612284
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Hypothyroidism, Delayed puberty, Cryptorchidism OMIM:616817
46,Xy Sex Reversal 9
Ambiguous genitalia, Fused labia minora, Gonadal dysgenesis, Sex reversal OMIM:616067
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Respiratory insufficiency, Ambiguous genitalia, Pulmonary hypoplasia, Renal cyst, Stillbirth, Cry... OMIM:616300
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... ORPHA:60032
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalci... OMIM:145981
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Multicystic kidney dysplasia, Hypertension, Pulmonary fibrosis, Recurr... ORPHA:2111
Congenital Myopathy 17
Respiratory insufficiency, Polyhydramnios, Respiratory tract infection, Pulmonary hypoplasia, Ure... OMIM:618975
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Adrenal hypoplasia OMIM:613124
Partington Syndrome
Macroorchidism ORPHA:94083
Joubert Syndrome 3
Neonatal breathing dysregulation, Episodic tachypnea, Stage 5 chronic kidney disease, Atrial sept... OMIM:608629
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Recurrent respiratory infections, Abnormal respiratory system physiology, Edema, ... ORPHA:98905
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Chronic pu... OMIM:613490
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypothyroidism, Bifid scrotum, Renal dysplasia, Telangiectasia of the skin, Hypoplasia of penis, ... ORPHA:85321
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Hypoxemia, Respiratory distress ORPHA:2140
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Absent testis OMIM:613094
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Anemia, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Polyuria, Hypercalcemia, ... OMIM:239200
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Bruising susceptibility, Pallor, Lymphadenopathy, Abnormal neutrophil count, Bone... ORPHA:3226
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... OMIM:600740
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Trisomy 13
Anophthalmia, Optic atrophy, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia... ORPHA:3378
Brain-Lung-Thyroid Syndrome
Abnormal cardiac septum morphology, Compensated hypothyroidism, Hypoparathyroidism, Vesicouretera... ORPHA:209905
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Bardet-Biedl Syndrome 5
External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Pericardial effusion, Ascites OMIM:256150
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Patent foramen ovale, Respiratory failure, Pulmonary hypoplasia, Neonatal respira... OMIM:616867
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Adams-Oliver Syndrome 6
Hepatic fibrosis, Cutis marmorata, Renal hypoplasia, Portal hypertension, Splenomegaly OMIM:616589
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
3-Methylglutaconic aciduria, Death in infancy, Abnormality of the kidney, Abnormal aortic valve m... ORPHA:1194
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension, Absence of renal corticomedullary differentiation, R... OMIM:619758
Mckusick-Kaufman Syndrome
Pedal edema, Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Transverse vaginal ... OMIM:236700
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubulointerstitial nephritis, Glome... OMIM:614376
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Hypoplastic left heart, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Nephronophthisis 18
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Hypertension... OMIM:615862
Penile Agenesis
Ambiguous genitalia, Absent penis, Bilateral lung agenesis, Bilateral renal agenesis, Ventricular... ORPHA:49
Microphthalmia, Syndromic 5
Anophthalmia, Coloboma, Optic nerve hypoplasia, Ectopic posterior pituitary, Microphthalmia, Cryp... OMIM:610125
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Poikilocytosis, Anisocytosis, H... OMIM:615631
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
46,Xy Sex Reversal 8
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism OMIM:614279
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Micropenis, Death in infancy OMIM:602361
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Czeizel-Losonci Syndrome
Ureteral agenesis, Congenital megaureter, Pulmonary hypoplasia, Dextrocardia, Abnormality of the ... ORPHA:2437
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... OMIM:614840
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Respiratory distress OMIM:300934
Even-Plus Syndrome
Vesicoureteral reflux, Patent foramen ovale, Recurrent urinary tract infections, Atrial septal de... OMIM:616854
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia OMIM:601389
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Avian Influenza
Pneumothorax, Productive cough, Acute kidney injury, Hypoxemia, Respiratory distress, Congestive ... ORPHA:454836
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... ORPHA:1303
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Ventricular septal defect, Adrenal hypoplasia, Pulmonary hypoplasia, Hypospadias, ... OMIM:214100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Fanconi Anemia, Complementation Group J
Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Fryns Syndrome
Vesicoureteral reflux, Polyhydramnios, Multicystic kidney dysplasia, Abnormal cardiac septum morp... ORPHA:2059
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Pulmonary hypoplasia, Respiratory distress, Respi... OMIM:617895
Verheij Syndrome
Renal cyst, Renal hypoplasia, Abnormal cardiac septum morphology, Renal agenesis OMIM:615583
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Bilateral renal agenesis, Vaginal atresia, Renal hypoplasia, Hyperechogenic ki... OMIM:617914
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, 3-Methylglutaconic aciduria, Pneumothorax, Renal cyst, Respiratory failure, Nephr... ORPHA:445038
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Bruising susceptibilit... ORPHA:1959
Cutis Laxa, Autosomal Recessive, Type Ic
Patent foramen ovale, Hypoplasia of the thymus, Death in infancy, Pulmonary hypoplasia, Multiple ... OMIM:613177
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Abnormal heart morphology, Stillbirth, Renal hypo... OMIM:276950
Meckel Syndrome 12
Bilateral renal agenesis, Ureteral hypoplasia, Oligohydramnios, Vaginal atresia, Renal hypoplasia... OMIM:616258
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Renal cyst, Cryptorchidism OMIM:615982
Autoimmune Hemolytic Anemia
Hemolytic anemia, Pallor, Abnormal urinary color, Dyspnea, Abnormal leukocyte morphology, Splenom... ORPHA:98375
Drug-Induced Autoimmune Hemolytic Anemia
Exertional dyspnea, Pallor, Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema OMIM:618773
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Vesicoureteral reflux, Polyhydramnios, Renal dysplasia, Bladder trabeculation, Pulmonary hypoplas... OMIM:614080
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... ORPHA:85445
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Hyperurice... ORPHA:543
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Hy... ORPHA:199241
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypo... OMIM:618280
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Death in infancy, Hypospadias, Respiratory failure, Neonatal death, Death in chil... OMIM:619334
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil prop... OMIM:178500
Mosaic Trisomy 1
Polyhydramnios, Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Pulmonary hy... ORPHA:1692
Congenital Tracheomalacia
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... ORPHA:95430
Hypercalcemia ORPHA:55881
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Autosomal Recessive Multiple Pterygium Syndrome
Hypogonadism, Absence of labia majora, Abnormal aortic valve morphology, Hypoplasia of penis, Pul... ORPHA:2990
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Exertional dyspnea, Jaundice, Pallor, Autoimmune hemolytic anemia, Ab... ORPHA:90033
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Mccune-Albright Syndrome
Renal phosphate wasting, Macroorchidism, Increased circulating prolactin concentration, Precociou... ORPHA:562
Thanatophoric Dysplasia
Respiratory insufficiency, Polyhydramnios, Abnormality of the kidney, Pulmonary hypoplasia, Atria... ORPHA:2655
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Respiratory insufficiency, Pancreatic cysts, Pulmonary insufficiency, Death in infancy, Pulmonary... OMIM:208500
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome, Acrocyanosis OMIM:123540
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs, Abnormality of the upper urinary tract, Abnormality of the ureth... ORPHA:2145
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Pentalogy Of Cantrell
Absent gallbladder, Abnormal pericardium morphology, Ventricular septal defect, Renal dysplasia, ... ORPHA:1335
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Anisocytosis, Hepatomegaly, Renal hyp... OMIM:604273
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Isothenuria, Distal renal tubular acidosis, Pallor, Reticulocytosis, Hepatosple... OMIM:611590
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... OMIM:234810
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation, Renal dysplasia, Abnormal lung lobation, Hypoplasia of penis... ORPHA:99776
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Hydroureter, Death in infancy, Hydronephrosis OMIM:618240
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... ORPHA:2004
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Fragile X Syndrome
Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Atelosteogenesis, Type Ii
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy OMIM:256050
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Lung adenocarcinoma, Decreased DLCO, H... OMIM:618913
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Pulmonary hypoplasia, Oligohydramnios, Aplasia of th... OMIM:271520
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Respiratory distress, Cryptorchidism, Death in childhood, Micropenis OMIM:615597
Hepatic Veno-Occlusive Disease
Respiratory failure, Ascites, Renal insufficiency ORPHA:890
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria, Cryptorchidism ORPHA:1307
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Phosphoethanolaminuria, Elevated urine pyrophosphate, Hype... OMIM:241500
Pneumothorax, Renal angiomyolipoma, Lymphedema, Hematuria, Chylopericardium, Emphysema, Renal neo... ORPHA:538
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Recurrent respi... OMIM:255320
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hypoplasia of penis, Iris coloboma, Hypospadias, Microphthalmia, Cryptorchidism ORPHA:77298
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:100025
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness, Cryptorchi... OMIM:611890
Hypoplasia of the bladder, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis, B... ORPHA:79328
Mosaic Trisomy 16
Ventricular septal defect, Maternal diabetes, Pulmonary hypoplasia, Atrial septal defect, Hypospa... ORPHA:1708
Microphthalmia ORPHA:35612
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Oxygen desaturation on exertion, Crackles, Compensated hypothyroidism, W... OMIM:610978
Atelosteogenesis Type I
Polyhydramnios, Abnormal pancreatic duct morphology, Multiple renal cysts, Pulmonary hypoplasia ORPHA:1190
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Death in infancy, Renal cyst, Renal hypoplasia, Renal in... OMIM:614922
Dermatitis, Atopic
Facial erythema, Allergic rhinitis, Asthma, Pallor, Dry skin OMIM:603165
Joubert Syndrome 21
Pulmonary hypoplasia, Renal cyst, Apnea, Dyspnea, Hyperechogenic kidneys OMIM:615636
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis, Atrial septal defect, Ventricular septal defect OMIM:608572
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Pulmonary hypoplasia, Pancreatic fibrosis, Extrapulmonar... OMIM:200995
Meacham Syndrome
Ambiguous genitalia, Hydrometrocolpos, Abnormal vagina morphology, Conotruncal defect, Ventricula... ORPHA:3097
Tarp Syndrome
Pulmonary hypoplasia, Atrial septal defect, Apnea, Horseshoe kidney, Cryptorchidism, Tetralogy of... ORPHA:2886
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Death in infancy, Adrenal insufficiency, Lacticaciduria, Hypertrophic cardiomyopat... OMIM:619386
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Renal agenesis, Respirat... ORPHA:3015
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Thromboc... OMIM:619751
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Polyhydramnios, Pulmonary hypoplasia, Cryptorchidism ORPHA:994
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Respiratory distress, Pallor, Hepatomegaly, Respiratory insufficiency due t... OMIM:613561
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Enlarged labia minora, Polycystic kidney dysplasia, Maternal d... ORPHA:3404
Acute kidney injury, Anemia, Thrombocytopenia, Respiratory distress ORPHA:673
Cyanosis, Transient Neonatal
Cyanosis, Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Pedal edema, Right bundle branch block, Bidirectional shunt, Systolic heart... ORPHA:439
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia, Abnormal lung lobation, Total anomalous pulmonar... OMIM:208530
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Oligohydramnios, Hypertrophic cardiomyopathy, Renal hypoplasia, Neonatal respiratory d... OMIM:619053
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Cryptorchidism OMIM:224410
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Asplenia, Absent gallbladder, Respiratory distress, Annular panc... ORPHA:210122
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Nephroblastoma, Primary hyperparathyroidism, Uterine leiomyoma, Parath... ORPHA:99880
Macroorchidism, Elevated circulating alpha-fetoprotein concentration, Abnormality of the peritone... ORPHA:180229
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Pulmonary edema, Reduced left ventricular ejection fraction, Acute kidney injury, De... ORPHA:542323
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Bronchitis, Endocarditis, Pleural empyema, Pleuritis, Abnormal respiratory system physiology, Per... ORPHA:449280
Image Syndrome
Hydronephrosis, Hypogonadism, Hypospadias, Cryptorchidism, Adrenal hypoplasia ORPHA:85173
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Oligohydramnios, Renal... ORPHA:1834
Respiratory insufficiency, Anemia, Hepatitis, Skin ulcer, Pallor, Hepatomegaly, Cholelithiasis, T... ORPHA:848
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory tract infection, Left ventricular outflow tract obstructio... ORPHA:308552
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pulmonary hemorrhage, Neutropenia, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abno... ORPHA:238459
Nanophthalmos 4
Microphthalmia OMIM:615972
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Staphylococcal Necrotizing Pneumonia
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... ORPHA:36238
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Congenital Gerbode Defect
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Bacterial endocarditis, Vent... ORPHA:99095
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Cryptorchidism ORPHA:139471
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronopht... OMIM:616217
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca, Renal hypoplasia/ap... ORPHA:1112
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
47,Xyy Syndrome
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Increased circulating gonadotropin level,... ORPHA:8
Achondrogenesis Type 2
Cardiorespiratory arrest, Edema, Pulmonary hypoplasia ORPHA:93296
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Nephroblastoma, Primary hyperparathyroidism, Uterine leiomyoma, Renal ... ORPHA:143
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Cyanosis, Asplenia, Biliary atresia, Enlarged kidney, Polysplenia, Renal... OMIM:306955
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, Ventricular septal defect, Hypoplastic labia majora, Hypoplastic nipples, ... OMIM:122470
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... ORPHA:75249
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Hypothyroidism, Patent foramen ovale, Decreased response to growth hormone... OMIM:609053
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Penoscrotal transposition, Left ventricular hypertrophy, Pulmonary hypoplasia, Hyp... OMIM:619148
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Pulmonic stenosis, Ectopic kidney OMIM:212780
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Abnormally large globe, Pulmonary lymphangiectasia, Hepatospl... ORPHA:1655
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Polycystic kidney dysplasia, Renal agenesis, Absent nipple... OMIM:200980
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypoparathyroidism, Hypocalcemic seizures, Nephrocalcinosis, Hypocalcemia OMIM:146200
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Pulmonary hypoplasia, Cryptorchidism ORPHA:250999
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level, Sex reversal OMIM:613080
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, True anophthalmia, Microphthalmia, Retinal detachment, Reti... OMIM:615113
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Hypertension, Renal hypoplasia, Ren... OMIM:617595
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Reduced circulat... OMIM:602152
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Cirrhosis, Myeloid leukemia, Premature graying of hair, Usual interstitial pneumonia, Ret... OMIM:614742
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Respiratory distress, Small scrotum, Micropenis, Cryptorchidism ORPHA:370924
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Bicornuate uterus, Renal agenesis, Atrial septal defect, Dextrocardia,... OMIM:264480
Snakebite Envenomation
Hypotension, Respiratory paralysis, Cerebral ischemia, Acute kidney injury, Cardiogenic shock, Hy... ORPHA:449285
Tetragametic Chimerism
Ambiguous genitalia, Abnormality of the scrotum, Abnormal testis morphology, Bifid scrotum, Gonad... ORPHA:199310
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Iris coloboma, Unilateral microphthalmos, Hypospadias OMIM:618874
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Angioedema, Small vessel vasculitis, Pericardial effusion, Hematuria, Emphysema, ... ORPHA:36412
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Renal tubular atrophy, Anemia, Stage 5 chronic kidney disease, Rena... OMIM:174000
Joubert Syndrome 2
Neonatal breathing dysregulation, Episodic tachypnea, Renal cyst, Hypoplastic male external genit... OMIM:608091
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Chronic kidney disease OMIM:615630
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia, Hydr... ORPHA:3305
Cold Agglutinin Disease