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Ontology Browser
Term:
developmental defect during embryogenesis (EFO:MONDO:0019755)
Annotations: Rat: (0) Mouse: (0) Human: (2) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
46,XY complete gonadal dysgenesis +  
Aicardi syndrome 
amelogenesis imperfecta type 1G 
aniridia +  
anorectal malformation +   
anterior segment dysgenesis +  
Aortic Coarctation +  
aortic valve stenosis +   
atresia of small intestine 
atypical Werner syndrome 
autosomal recessive frontotemporal pachygyria 
axial mesodermal dysplasia spectrum 
Berardinelli-Seip congenital lipodystrophy +  
bicornuate uterus 
blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 
Bloom syndrome 
bone development disease +   
brachydactyly +  
branchial arch disease +   
bronchogenic cyst 
bronchopulmonary dysplasia  
camptodactyly of fingers 
cardiac valvular defect, developmental 
cataract - congenital heart disease - neural tube defect syndrome 
cephalocele +  
cerebral cortical dysplasia +  
Chudley-McCullough syndrome 
CK syndrome 
cleft lip and alveolus +  
cleft lip/palate +  
cleft palate-stapes fixation-oligodontia syndrome 
colonic atresia 
complex cortical dysplasia with other brain malformations +  
congenital achiasma 
congenital anomaly of cardiovascular system +   
congenital bilateral absence of vas deferens +  
congenital deformities of limbs +  
congenital elbow dislocation +  
congenital esophageal diverticulum 
congenital hydrocephalus +  
congenital knee dislocation +  
congenital patella dislocation +  
congenital primary megaureter +  
congenital short bowel syndrome +  
congenital shoulder dislocation 
congenital tricuspid malformation +  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 
craniodiaphyseal dysplasia 
craniofacial dysplasia - osteopenia syndrome 
craniofacial dyssynostosis 
craniorachischisis 
deafness-oligodontia syndrome 
demyelinating disease +   
dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 
developmental defect during embryogenesis +   
A disease that has its basis in the disruption of embryonic morphogenesis.
diencephalic-mesencephalic junction dysplasia 
distal symphalangism 
DNA ligase IV deficiency 
double uterus-hemivagina-renal agenesis syndrome 
duodenal atresia 
duplication of the pituitary gland 
duplication of urethra 
epibulbar lipodermoid-preauricular appendage-polythelia syndrome 
familial bicuspid aortic valve 
familial intestinal malrotation-facial anomalies syndrome 
familial isolated clinodactyly of fingers 
familial isolated congenital asplenia 
familial median cleft of the upper and lower lips 
familial omphalocele syndrome with facial dysmorphism 
familial osteodysplasia, Anderson type 
familial partial lipodystrophy, Dunnigan type 
familial primary pulmonary hypoplasia 
Fowler syndrome 
gingival fibromatosis-progressive deafness syndrome 
hereditary cardiac anomaly +  
hereditary gingival fibromatosis 
hereditary lethal multiple congenital anomalies/dysmorphic syndrome +  
high anorectal malformation 
horizontal gaze palsy with progressive scoliosis 
hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 
hypohidrotic ectodermal dysplasia +  
hypospadias  
imperforate anus 
intermediate anorectal malformation 
isolated cerebellar hypoplasia/agenesis 
isolated cleft lip +  
isolated congenital digital clubbing 
Jalili syndrome 
Joubert syndrome +  
keratinization disease +   
L1 syndrome +  
lissencephaly spectrum disorders +  
loose anagen syndrome +  
low anorectal malformation 
Lowe-Kohn-Cohen syndrome 
lower limb hypertrophy 
lung agenesis-heart defect-thumb anomalies syndrome 
macrocephaly-autism syndrome 
macrodactyly of fingers +  
macrodactyly of toes +  
medullary sponge kidney 
megalencephaly +  
megalodactyly 
microcephaly +  
microcephaly-polymicrogyria-corpus callosum agenesis syndrome 
Morgagni-Stewart-Morel syndrome 
mulibrey nanism 
multicystic dysplastic kidney +  
multiple intestinal atresia 
Nance-Horan syndrome 
natal teeth-intestinal pseudoobstruction-patent ductus syndrome 
neurocristopathy +   
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 
Noonan syndrome and Noonan-related syndrome +  
oculocerebral hypopigmentation syndrome, Cross type 
oculodental syndrome, Rutherfurd type 
odontomatosis-aortae esophagus stenosis syndrome 
otodental syndrome 
otofaciocervical syndrome 
overgrowth syndrome +  
pancreatic agenesis +  
penoscrotal transposition 
pericardial and diaphragmatic defect 
polydactyly +  
porencephaly-microcephaly-bilateral congenital cataract syndrome 
postaxial polydactyly-dental and vertebral anomalies syndrome 
precocious puberty +   
primary basilar invagination 
progeroid features-hepatocellular carcinoma predisposition syndrome 
progressive cerebello-cerebral atrophy 
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 
renal agenesis +   
renal dysplasia +  
renal hypoplasia +  
renal tubular dysgenesis of genetic origin 
Rothmund-Thomson syndrome +  
spina bifida +  
steatocystoma multiplex-natal teeth syndrome 
steroid dehydrogenase deficiency-dental anomalies syndrome 
syndactyly +  
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 
thumb deformity-alopecia-pigmentation anomaly syndrome 
torticollis-keloids-cryptorchidism-renal dysplasia syndrome 
upper limb hypertrophy 
uterine hypoplasia 
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome 
 abdominal wall malformation +  
 angioosteohypertrophic syndrome 
 ankyloblepharon filiforme-imperforate anus syndrome 
 anotia 
 Becker nevus syndrome +  
 blindness - scoliosis - arachnodactyly syndrome 
 bone fragility with contractures, arterial rupture, and deafness 
 central nervous system malformation +  
 cleft palate +  
 congenital anomaly of kidney and urinary tract +  
 congenital limb malformation +   
 cutis laxa +  
 cutis laxa - Marfanoid syndrome 
 cysts and fistulae of the face and oral cavity +  
 Desbuquois dysplasia +  
 developmental anomaly of metabolic origin +  
 developmental defect of the eye +   
 digestive tract malformation +  
 disorder of sexual differentiation +  
 Ehlers-Danlos syndrome +  
 facial cleft +  
 focal dermal hypoplasia 
 hemihyperplasia-multiple lipomatosis syndrome 
 hereditary hemorrhagic telangiectasia +  
 hereditary neurocutaneous angioma 
 hydrops fetalis +  
 infectious embryofetopathy +  
 joint laxity, short stature, and myopia 
 Larsen syndrome 
 Legius syndrome 
 lethal Larsen-like syndrome 
 linear nevus sebaceous syndrome 
 macroglossia +  
 Maffucci syndrome 
 marfanoid habitus-inguinal hernia-advanced bone age syndrome 
 microtia 
 multiple congenital anomalies/dysmorphic syndrome +   
 neurofibromatosis type 1 +  
 neurofibromatosis-Noonan syndrome +  
 nevoid basal cell carcinoma syndrome 
 phakomatosis pigmentokeratotica 
 phakomatosis pigmentovascularis +  
 progeroid syndrome +  
 pseudodiastrophic dysplasia 
 PTEN hamartoma tumor syndrome +  
 schwannomatosis +  
 toxic or drug-related embryofetopathy +  
 TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations +  
 urogenital tract malformation +   

Synonyms
Exact Synonyms: congenital malformation syndrome ;   disorder of embryonic morphogenesis ;   embryonic morphogenesis disease ;   malformation syndrome ;   rare developmental defect during embryogenesis
Alternate IDs: MONDO:0019755
Xrefs: ICD9:759.7 ;   MEDGEN:1825997 ;   NCI:C99267 ;   ORDO:93890 ;   SCTID:400038003 ;   UMLS:C5680284
Definition Sources: MONDO:design_pattern

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