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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:Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome
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Accession:DOID:9009190 term browser browse the term
Definition:A disease characterized by developmental delay and impaired intellectual development with a high prevalence of motor disease, dysmorphisms, and psychiatric conditions, including autism spectrum disorder, caused by heterozygous mutation in the MSL2 gene on chromosome 3q22.
Synonyms:exact_synonym: KBHS
 xref: MIM:620985



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Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msl2 MSL complex subunit 2 ISO ClinVar Annotator: match by term: Karayol-Borroto-Haghshenas neurodevelopmental syndrome OMIM
ClinVar
PMID:25741868 PMID:38815585 NCBI chr 8:110,555,579...110,642,096
Ensembl chr 8:110,555,271...110,647,889
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Neurodevelopmental Disorders 6988
        Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              Neurodevelopmental Disorders 6988
                Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome 1
paths to the root