Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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, Cerebral Atrophy, and Visual Impairment
go back to main search page
Accession:DOID:9004467 term browser browse the term
Definition:An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, facial dysmorphism, and microcephaly. Caused by compound heterozygous mutation in the DOHH gene on chromosome 19p13.
Synonyms:exact_synonym: DOHH RELATED NEURODEVELOPMENTAL DISORDER;   DOHH-RELATED CONDITION;   NEDMVIC
 primary_id: OMIM:620066



show annotations for term's descendants           Sort by:
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dohh deoxyhypusine hydroxylase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM
ClinVar
PMID:25741868 PMID:35858628 NCBI chr 7:8,321,466...8,326,305
Ensembl chr 7:8,321,466...8,326,289
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Neurodevelopmental Disorders 6814
        Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment 1
Path 2
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          monogenic disease 10276
            autosomal genetic disease 9422
              autosomal dominant disease 6189
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1370
                    microcephaly 1122
                      Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment 1
paths to the root