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:Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
go back to main search page
Accession:DOID:9000271 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. (OMIM)
Synonyms:exact_synonym: MDFPMR
 primary_id: OMIM:617011
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chr 4:152,087,393...152,380,023
Ensembl chr 4:152,087,379...152,380,184
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation
ClinVar
OMIM
PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 PMID:32921582 NCBI chr 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Pathological Conditions, Signs and Symptoms 9888
      Pathologic Processes 6540
        Disease Attributes 610
          Facies 277
            Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 2
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal dominant disease 3756
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group I 1023
                    Macrocephaly 61
                      Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 2
paths to the root