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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Agenesis of Corpus Callosum +   
agnathia-otocephaly complex  
Aicardi-Goutieres syndrome +   
arthrogryposis multiplex congenita +   
Athabaskan brainstem dysgenesis syndrome  
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
caudal regression syndrome  
Central Nervous System Cysts +   
Central Nervous System Vascular Malformations +   
cerebellar hypoplasia +   
chromosome 17p13.3 duplication syndrome  
cleft palate-lateral synechia syndrome 
complex cortical dysplasia with other brain malformations +   
Compton-North congenital myopathy  
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia +   
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
congenital epulis 
congenital fibrosarcoma  
congenital fibrosis of the extraocular muscles +   
Congenital Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
congenital heart disease +   
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
congenital myopathy 4A +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
cryptophthalmia +   
Dandy-Walker syndrome +   
developmental delay, dysmorphic facies, and brain anomalies  
Drachtman Weinblatt Sitarz Syndrome 
early onset progressive encephalopathy with brain atrophy and thin corpus callosum  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
gastroschisis +   
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  
HEART AND BRAIN MALFORMATION SYNDROME  
hereditary sensory neuropathy +   
hypospadias +   
imperforate anus +   
Klippel-Feil syndrome +   
large congenital melanocytic nevus  
laryngomalacia +   
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
Meckel's diverticulum 
Median-Ulnar Nerve Communications 
microcephaly, growth deficiency, seizures, and brain malformations  
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
myotonia congenita +   
neural tube defect +   
A physical disorder characterized by incomplete closure of the neural tube. (DO)
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities  
Neurodevelopmental Disorder with Seizures and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
NFIA-related disorder  
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
omphalocele  
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Poland syndrome 
polydactyly +   
primary congenital glaucoma +   
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
Schisis Association 
septooptic dysplasia +   
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Silver-Russell syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
syndromic microphthalmia 3  
syndromic microphthalmia 6  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
TORCH syndrome 
visceral heterotaxy +   
Zika virus congenital syndrome 

Synonyms
Exact Synonyms: Acrania ;   Craniorachischisis ;   Diastematomyelia ;   Diastematomyelias ;   Exencephalies ;   Exencephaly ;   Iniencephalies ;   Iniencephaly ;   NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO ;   NTD ;   Neurenteric Cyst ;   Neurenteric Cysts ;   Neuroenteric Cyst ;   Neuroenteric Cysts ;   Spinal Cord Myelodysplasia ;   acranias ;   craniorachischises ;   developmental neural tube defects ;   neural tube defects ;   spinal cord myelodysplasias
Narrow Synonyms: SPINA BIFIDA
Primary IDs: MESH:D009436
Alternate IDs: OMIM:182940 ;   OMIM:222500
Xrefs: GARD:4016
Definition Sources: https://en.wikipedia.org/wiki/Neural_tube_defect "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK555903/ "DO" "DO"

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