Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Nervous System Malformations
go back to main search page
Accession:DOID:9006534 term browser browse the term
Definition:Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Synonyms:exact_synonym: ABNORMALITY OF THE NERVOUS SYSTEM;   Congenital Anomalies, Nervous System;   Cranioschises;   Cranioschisis;   Nervous System Abnormalities;   Nervous System Abnormality;   Nervous System Anomalies;   Nervous System Anomaly;   Nervous System Congenital Abnormalities;   Nervous System Congenital Malformations;   Nervous System Malformation
 primary_id: MESH:D009421


show annotations for term's descendants           Sort by:


Your selection has 2461 annotated objects. The maximum number of objects that can be shown is 2000. The list is too large to display.

  • Select a more specific term using the term browser
  • Download the entire list for this term
  • Display annotations for this term only (exclude descendants)


    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 19137
        disease of anatomical entity 18450
          nervous system disease 14357
            Nervous System Malformations 2463
              Agenesis of Corpus Callosum + 381
              Aicardi-Goutieres syndrome + 233
              Athabaskan brainstem dysgenesis syndrome 2
              BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 1
              BRAIN MALFORMATION RENAL SYNDROME 2
              Central Nervous System Cysts + 11
              Central Nervous System Vascular Malformations + 53
              Dandy-Walker syndrome + 32
              Drachtman Weinblatt Sitarz Syndrome 0
              GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME 1
              HEART AND BRAIN MALFORMATION SYNDROME 1
              Median-Ulnar Nerve Communications 0
              NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY 1
              NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES 0
              NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES 1
              NFIA-related disorder 1
              Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
              Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
              Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
              Neurodevelopmental Disorder with Seizures and Brain Abnormalities 2
              Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities 1
              Schisis Association 0
              cerebellar hypoplasia + 107
              chromosome 17p13.3 duplication syndrome 5
              complex cortical dysplasia with other brain malformations + 1642
              developmental delay, dysmorphic facies, and brain anomalies 1
              early onset progressive encephalopathy with brain atrophy and thin corpus callosum 2
              hereditary sensory neuropathy + 51
              microcephaly, growth deficiency, seizures, and brain malformations 1
              neural tube defect + 137
              neurodevelopmental disorder with midbrain and hindbrain malformations 1
              septooptic dysplasia + 16
              syndromic microphthalmia 3 12
              syndromic microphthalmia 6 7
    Path 2
    Term Annotations click to browse term
      disease 19137
        Developmental Disease 14663
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
            Congenital Abnormalities 7885
              Nervous System Malformations 2463
                Agenesis of Corpus Callosum + 381
                Aicardi-Goutieres syndrome + 233
                Athabaskan brainstem dysgenesis syndrome 2
                BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 1
                BRAIN MALFORMATION RENAL SYNDROME 2
                Central Nervous System Cysts + 11
                Central Nervous System Vascular Malformations + 53
                Dandy-Walker syndrome + 32
                Drachtman Weinblatt Sitarz Syndrome 0
                GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME 1
                HEART AND BRAIN MALFORMATION SYNDROME 1
                Median-Ulnar Nerve Communications 0
                NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES 1
                NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY 1
                NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES 0
                NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
                NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES 1
                NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES 1
                NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES 1
                NFIA-related disorder 1
                Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 1
                Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 1
                Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
                Neurodevelopmental Disorder with Seizures and Brain Abnormalities 2
                Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities 1
                Schisis Association 0
                cerebellar hypoplasia + 107
                chromosome 17p13.3 duplication syndrome 5
                complex cortical dysplasia with other brain malformations + 1642
                developmental delay, dysmorphic facies, and brain anomalies 1
                early onset progressive encephalopathy with brain atrophy and thin corpus callosum 2
                hereditary sensory neuropathy + 51
                microcephaly, growth deficiency, seizures, and brain malformations 1
                neural tube defect + 137
                neurodevelopmental disorder with midbrain and hindbrain malformations 1
                septooptic dysplasia + 16
                syndromic microphthalmia 3 12
                syndromic microphthalmia 6 7
    paths to the root