Phenotypes for disease #00860 (NTD (neural tube defects, susceptibility to (NTD)), OMIM:182940)

63 entries on 1 page. Showing entries 1 - 63.
Legend   How to query  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000044433 - - - Unknown - - - - - Johan den Dunnen 00057254
0000044434 - - - Unknown - - - - - Johan den Dunnen 00057255
0000078568 Myelomeningocele - - Complex - - - - - Philippe Lemay 00100372
0000078700 1 Child has Cleft lip/palate, scoliosis 1 Child has Renal cyst, scoliosis - - Familial, autosomal recessive - - - - - Philippe Lemay 00100500
0000078701 Myelomeningocele with renal cyst and scoliosis - - Unknown - - - - - Philippe Lemay 00100501
0000078703 Myelomeningocele - - Unknown - - - - - Philippe Lemay 00100502
0000078704 Myelomeningocele - - Unknown - - - - - Philippe Lemay 00100503
0000078705 Myelomeningocele - - Unknown - - - - - Philippe Lemay 00100504
0000078706 Myelomeningocele - - Unknown - - - - - Philippe Lemay 00100505
0000078707 Myelomeningocele with neurogenic bladder - - Unknown - - - - - Philippe Lemay 00100506
0000084454 Neural tube defects; Anencephalus, occipital cervical thoracic lumbal spinal bifida aperta, left eye exophthalmos, lung lobe deformity - - Isolated (sporadic) - - - - - Yunping Lei 00106647
0000084455 Neural tube defects; Complete anencephalus, whole spinal bifida aperta; absence of neck; thorax deformity; both upper limb overlength; lung lobe deformity (both lungs deformity of having one lobe each), atelectasis - - Isolated (sporadic) - - - - - Yunping Lei 00106648
0000084456 Neural tube defects; Anencephalus, cervial occipital spina bifida aperta; atrial septal defect; left lung lobe deformity; bilateral adrenal dysplasia; atelectasis - - Isolated (sporadic) - - - - - Yunping Lei 00106649
0000084457 Neural tube defects - - Isolated (sporadic) - - - - - Yunping Lei 00106650
0000084458 Neural tube defects - - Isolated (sporadic) - - - - - Yunping Lei 00106651
0000085520 anencephaly; neural tube defects - - Unknown 4m - - - - Hongyan Wang 00107757
0000085521 lumbosacral myelomenigocele, hydrocephalus; neural tube defects - - Unknown 5m - - - - Hongyan Wang 00107758
0000085522 occipital encephalocele, bilateral atelectasis, visceral congestion; neural tube defects - - Unknown 3m - - - - Hongyan Wang 00107759
0000085523 lumbosacral myelocystocele, talipes equinovarus, lung lobe branching malformation, chest deformity; neural tube defects - - Unknown 6m - - - - Hongyan Wang 00107760
0000085614 Myelomeningocele - - Unknown - - - - - Patrizia De Marco 00107853
0000085615 Lumbo-sacral MMC, Chiari malformation type II, hydrocephalus, hydromyelia, low spinal cord, severe scoliosis, paraparesis, genitourinary abnormalities. - - Unknown - - - - - Patrizia De Marco 00107855
0000085616 Myelomeningocele - - Unknown - - - - - Patrizia De Marco 00107856
0000085617 sacral agenesis, lumbo-sacral LipoMMC, tethered cord, right bladder-ureteral reflux - - Unknown - - - - - Patrizia De Marco 00107858
0000085618 Lumbo-sacral LipoMMC - - Unknown - - - - - Patrizia De Marco 00107859
0000085619 Myelomeningocele and hydrocephalus - - Unknown - - - - - Patrizia De Marco 00107861
0000085620 Lumbo-sacral myelomeningocele, hydrocephalus - - Unknown - - - - - Patrizia De Marco 00107863
0000085621 MMC, sphincteric incontinence, neurogenic bladder - - Unknown - - - - - Patrizia De Marco 00107864
0000085622 MMC, Chiari malformation type II - - Unknown - - - - - Patrizia De Marco 00107865
0000085623 sacral agenesis, spondilo-costal dysplasia, meningocele, tethered cord, hydromyelia, club foot, left kidney agenesis, convex dorso-lumbar scoliosis - - Unknown - - - - - Patrizia De Marco 00107866
0000085624 Right anterior thoracic-MC, hydromyelia, intra-dural lipoma, spondilo-costal dysplasia, complex scoliosis - - Unknown - - - - - Patrizia De Marco 00107868
0000085625 Occipital encephalocele - - Unknown - - - - - Patrizia De Marco 00107870
0000085626 Meningocele, dermal sinus, tethered cord - - Unknown - - - - - Patrizia De Marco 00107871
0000086097 this is an affected male fetus with spina bifida, rib abnormalities along with other minor abnormalities noted; a second fetus to the same parents had the same features - - Familial, autosomal recessive - - - - - Michael Friez 00108621
0000093011 spinal bifida;neural tube defects - - Unknown - - - - - Yunping Lei 00117541
0000093019 spinal bifida;neural tube defects - - Unknown - - - - - Yunping Lei 00117549
0000093024 spinal bifida;neural tube defects - - Unknown - - - - - Yunping Lei 00117554
0000093027 spinal bifida;neural tube defects - - Unknown - - - - - Yunping Lei 00117557
0000093028 spinal bifida;neural tube defects - - Unknown - - - - - Yunping Lei 00117558
0000093029 spinal bifida;neural tube defects - - Unknown - - - - - Yunping Lei 00117559
0000093197 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117790
0000093198 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117791
0000093199 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117794
0000093200 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117795
0000093201 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117796
0000093202 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117798
0000093203 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117799
0000093204 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117800
0000093205 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117801
0000093206 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117804
0000093207 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117810
0000093208 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117812
0000093209 myelomeningocele - - Isolated (sporadic) - - - - - Yunping Lei 00117817
0000180229 myelomeningocele - - Unknown - - - - - Yunping Lei 00240064
0000180230 myelomeningocele - - Unknown - - - - - Yunping Lei 00240065
0000180231 myelomeningocele - - Unknown - - - - - Yunping Lei 00240067
0000231239 Spina bifida - - Unknown 33y - - - - Andreas Laner 00305389
0000308087 - - - Unknown - - - spina bifida - Yunping Lei 00416321
0000310489 - spina bifida - Unknown - - - - - Johan den Dunnen 00419201
0000310490 - spina bifida - Unknown - - - - - Johan den Dunnen 00419202
0000310491 - spina bifida - Unknown - - - - - Johan den Dunnen 00419203
0000310492 - spina bifida - Unknown - - - - - Johan den Dunnen 00419204
0000310493 - spina bifida - Unknown - - - - - Johan den Dunnen 00419205
0000325034 see paper; ..., mild developmental delay; meningomyelocele; scoliosis; vertebral segmentation defect; narrow chest; talipes equinovarus; umbilical hernia; imperforated anus ; rectovaginal fistula; single kidney neural tube defect - Isolated (sporadic) 00y10m - - - - Johan den Dunnen 00434790
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.