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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 DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
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Accession:DOID:9005238 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by dysmorphic facies, ischiopubic hypoplasia, and moderate to severe global developmental delay. Affected individuals show episodic regression during periods of stress, including seizures or infection. Brain imaging shows diminished white matter volume, enlarged ventricles, and thin corpus callosum.
Synonyms:exact_synonym: NEDFIH
 primary_id: MIM:620210



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NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia OMIM
ClinVar
PMID:25741868 PMID:36608681 NCBI chr19:452,462...478,591
Ensembl chr19:446,000...472,371
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    Developmental Disease 14667
      bone development disease 2387
        NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA 1
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        central nervous system disease 12636
          brain disease 11856
            disease of mental health 8455
              Neurodevelopmental Disorders 6969
                NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA 1
paths to the root