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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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies ClinVar PMID:25741868 PMID:31079899 NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158
JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies ClinVar
OMIM
PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 More... NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    Developmental Disease 36035
      Neurodevelopmental Disorders 13295
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 2
Path 2
Term Annotations click to browse term
  disease 40760
    Developmental Disease 36035
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33173
        genetic disease 32754
          monogenic disease 18191
            autosomal genetic disease 16464
              autosomal dominant disease 10618
                complex cortical dysplasia with other brain malformations 2136
                  Malformations of Cortical Development, Group I 1828
                    microcephaly 1488
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 2
paths to the root