Phenotypes for disease #02038 (ACDMPV (dysplasia, capillary, alveolar, with misalignment of pulmonary veins (ACDMPV)), OMIM:265380)

47 entries on 1 page. Showing entries 1 - 47.
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Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000188760 posterior urethral valves - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250214
0000188761 complex; butterfly vertebra - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250215
0000188762 died from pulmonary insufficiency; gestation 28w; birth weight 1091g; respiratory ACD/MPV, pulmonary lymphangiectasia; patent ductus arteriosus; esophageal atresia, tracheo-esophageal fistula, abnormal placement anus; Single umbilical artery - - Isolated (sporadic) - - - esophageal atresia - - 00250216
0000188764 died from pulmonary insufficiency; elective C-section 38w; birth weight 2900g; respiratory ACD/MPV, persistent pulmonary hypertension, extracorporeal membrane oxygenation dependent (veno-veno); Tetralogy of Fallot, patent ductus arteriosus; duodenal atresia with annular pancreas, imperforate anus; bilateral hydronephrosis, mod right, severe left; Single umbilical artery - - Isolated (sporadic) - - - - - - 00250218
0000188765 died from pulmonary insufficiency; elective C-section 37w; respiratory ACD/MPV, left pneumothorax, hypoxemia, surfactant therapy, extracorporeal membrane oxygenation; hypoplastic left heart syndrome; mild uretero-pelvic caliectasis; T11 butterfly vertebra; cleft lip, cleft palate, brachycephaly, single umbilical artery - - Isolated (sporadic) - - - - - - 00250219
0000188769 gestation 32w; birth weight 2470g; bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas and duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250223
0000188770 gestation 32w; birth weight 2460g; obstructive renal dysplasia - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250224
0000188771 gestation 35w; birth weight 2490g; partial anomalous pulmonary venous connection with absent left upper lobe pulmonary vein, malrotation of bowel, congenital short bowel, small omphalocele, bilateral severe hydronephrosis, hydroureter, bladder dilatation, micrognathia, low set ears - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250225
0000188772 gestation 38w; birth weight 5057g; intestinal malrotation, Meckel's diverticulum - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250226
0000188773 Malrotation of intestine, imperforate anus, butterfly vertebra - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250227
0000188774 Incomplete rotation of bowel, high arched palate, hypocalvaria, incomplete lung lobation - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250228
0000188775 Malrotation of the intestine, hydronephrosis, bilateral hydroureter, enlarged and thick bladder - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250229
0000188776 None - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250230
0000188777 Abnormal lung lobation, malrotation of the intestine, duodenal atresia - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250231
0000188778 Hyaline membrane disease, patent ductus arteriosus, multiple intestinal atresias, imperforate anus, undescended testis, Hirschprung disease - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250232
0000188779 none identified - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250233
0000188780 duodenal and anal atresia, malrotation of the large intestine and gallbladder agenesis - - Familial - - - - - Avinash Dharmadhikari 00250234
0000188781 Atrial septal defect, polyhydramnios - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250235
0000188782 Intestinal malrotation - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250236
0000188783 Bilobed right lung - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250237
0000188784 unknown - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250238
0000188785 unknown - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250239
0000188786 Hydronephrosis, partial stenosis at transition to colon transversum - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250240
0000188787 Malrotation of the intestine, atrial septal defect, thickened distended bladder with muscular hypertrophy - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250241
0000188788 Meckel’s divurticulum, moderate acute cortical involution of thymus - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250242
0000188789 Bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas, duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder - - Familial - - - - - Avinash Dharmadhikari 00250243
0000188790 none identified - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250244
0000188791 unknown - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250245
0000188792 none identified - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250246
0000188793 Megaduodenum, pyloric stenosis, annular pancreas - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250247
0000188794 Atrial septal defects - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250248
0000188795 Uretral stenosis, megavesica, severe hydronephrosis - - Familial - - - - - Avinash Dharmadhikari 00250249
0000188796 Isolated arhinencephaly - - Familial - - - - - Avinash Dharmadhikari 00250250
0000188797 Severe obstructive uropathy - - Familial - - - - - Avinash Dharmadhikari 00250251
0000188798 Duodenal stenosis, annular pancreas, malrotation of large intestine - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250252
0000188799 unknown - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250253
0000188800 Duodenal atresia, polysplenia, annular pancreas and left hydronephrosis - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250254
0000188801 unknown - - - - - - - - Avinash Dharmadhikari 00250255
0000188802 None - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250256
0000188803 unknown - - - - - - - - Avinash Dharmadhikari 00250257
0000188804 Mild aortic coarctation, Meckel's diverticulum - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250258
0000188805 none identified - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250259
0000188806 Bilateral incomplete lobation of lungs, Lymphangiectasis - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250260
0000188807 No lung lobation - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250261
0000188809 none identified - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250263
0000188810 unknown - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250264
0000188811 Atrial septal defect - - Isolated (sporadic) - - - - - Avinash Dharmadhikari 00250265
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