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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 MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
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Accession:DOID:9005194 term browser browse the term
Definition:A severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. (OMIM)
Synonyms:exact_synonym: NMIHBA
 primary_id: OMIM:617481


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NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies ClinVar PMID:25741868 PMID:31079899 NCBI chr 3:56,033,882...56,085,080
Ensembl chr 3:56,033,917...56,085,080 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 More... NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Neurodevelopmental Disorders 6845
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group I 1379
                    microcephaly 1130
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 2
paths to the root