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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



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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 21147
        disease of anatomical entity 18195
          nervous system disease 14024
            Nervous System Malformations 2361
              Agenesis of Corpus Callosum + 369
              Aicardi-Goutieres syndrome + 210
              Athabaskan brainstem dysgenesis syndrome 2
              Central Nervous System Cysts + 9
              Central Nervous System Vascular Malformations + 50
              Dandy-Walker syndrome + 30
              Drachtman Weinblatt Sitarz Syndrome 0
              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 + 108
              chromosome 17p13.3 duplication syndrome 5
              complex cortical dysplasia with other brain malformations + 1582
              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 + 130
              neurodevelopmental disorder with midbrain and hindbrain malformations 1
              septooptic dysplasia + 17
              syndromic microphthalmia 3 12
              syndromic microphthalmia 6 7
    Path 2
    Term Annotations click to browse term
      disease 21147
        Developmental Disease 18462
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18323
            Congenital Abnormalities 7479
              Nervous System Malformations 2361
                Agenesis of Corpus Callosum + 369
                Aicardi-Goutieres syndrome + 210
                Athabaskan brainstem dysgenesis syndrome 2
                Central Nervous System Cysts + 9
                Central Nervous System Vascular Malformations + 50
                Dandy-Walker syndrome + 30
                Drachtman Weinblatt Sitarz Syndrome 0
                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 + 108
                chromosome 17p13.3 duplication syndrome 5
                complex cortical dysplasia with other brain malformations + 1582
                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 + 130
                neurodevelopmental disorder with midbrain and hindbrain malformations 1
                septooptic dysplasia + 17
                syndromic microphthalmia 3 12
                syndromic microphthalmia 6 7
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