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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:Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
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Accession:DOID:9006140 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. (OMIM)
Synonyms:exact_synonym: NDMSBA
 primary_id: OMIM:617527
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES ClinVar
OMIM
PMID:25741868 PMID:28007986 PMID:28413018 PMID:31322726 NCBI chr 5:113,548,913...113,578,928
Ensembl chr 5:113,548,913...113,578,928
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES ClinVar PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 NCBI chr 8:48,723,755...48,727,182
Ensembl chr 8:48,723,191...48,727,154
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Neurodevelopmental Disorders 5599
        Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 2
Path 2
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9142
        genetic disease 8664
          monogenic disease 6639
            autosomal genetic disease 5795
              autosomal dominant disease 4091
                complex cortical dysplasia with other brain malformations 1167
                  Malformations of Cortical Development, Group I 1027
                    microcephaly 873
                      Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 2
paths to the root