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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:Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
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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.



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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 4:152,763,664...153,055,706
Ensembl chr 4:152,767,419...153,055,639
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 OMIM
ClinVar
PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 More... NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Pathological Conditions, Signs and Symptoms 11282
      Pathologic Processes 7739
        Disease Attributes 741
          Facies 376
            Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 2
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          monogenic disease 8606
            autosomal genetic disease 7607
              autosomal dominant disease 5130
                complex cortical dysplasia with other brain malformations 1438
                  Malformations of Cortical Development, Group I 1283
                    Macrocephaly 70
                      Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 2
paths to the root