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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
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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
For additional species annotation, visit the Alliance of Genome Resources.



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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 18215
        disease of anatomical entity 17576
          nervous system disease 13207
            Nervous System Malformations 2097
              Agenesis of Corpus Callosum + 272
              Aicardi-Goutieres syndrome + 111
              Athabaskan brainstem dysgenesis syndrome 2
              Central Nervous System Cysts + 8
              Central Nervous System Vascular Malformations + 48
              Dandy-Walker syndrome + 30
              Drachtman Weinblatt Sitarz Syndrome 0
              ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 1
              GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME 1
              HEART AND BRAIN MALFORMATION SYNDROME 1
              Median-Ulnar Nerve Communications 0
              NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY 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 Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
              Neurodevelopmental Disorder with Seizures and Brain Abnormalities 1
              Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities 1
              Schisis Association 0
              cerebellar hypoplasia + 43
              chromosome 17p13.3 duplication syndrome 5
              complex cortical dysplasia with other brain malformations + 1488
              hereditary sensory neuropathy + 51
              microcephaly, growth deficiency, seizures, and brain malformations 1
              neural tube defect + 128
              neurodevelopmental disorder with midbrain and hindbrain malformations 1
              septooptic dysplasia + 13
              syndromic microphthalmia 3 3
              syndromic microphthalmia 6 7
    Path 2
    Term Annotations click to browse term
      disease 18215
        Developmental Disease 13068
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
            Congenital Abnormalities 6810
              Nervous System Malformations 2097
                Agenesis of Corpus Callosum + 272
                Aicardi-Goutieres syndrome + 111
                Athabaskan brainstem dysgenesis syndrome 2
                Central Nervous System Cysts + 8
                Central Nervous System Vascular Malformations + 48
                Dandy-Walker syndrome + 30
                Drachtman Weinblatt Sitarz Syndrome 0
                ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 1
                GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME 1
                HEART AND BRAIN MALFORMATION SYNDROME 1
                Median-Ulnar Nerve Communications 0
                NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY 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 Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
                Neurodevelopmental Disorder with Seizures and Brain Abnormalities 1
                Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities 1
                Schisis Association 0
                cerebellar hypoplasia + 43
                chromosome 17p13.3 duplication syndrome 5
                complex cortical dysplasia with other brain malformations + 1488
                hereditary sensory neuropathy + 51
                microcephaly, growth deficiency, seizures, and brain malformations 1
                neural tube defect + 128
                neurodevelopmental disorder with midbrain and hindbrain malformations 1
                septooptic dysplasia + 13
                syndromic microphthalmia 3 3
                syndromic microphthalmia 6 7
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