Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
go back to main search page
Accession:DOID:9006994 term browser browse the term
Definition:Characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin. (OMIM)
Synonyms:exact_synonym: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
 primary_id: OMIM:617101;   RDO:9001620
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin
ClinVar
OMIM
PMID:10744719 PMID:11161790 PMID:11347906 PMID:12196208 PMID:12717432 PMID:15465497 PMID:15548577 PMID:16704730 PMID:17021036 PMID:17964244 PMID:19616629 PMID:20623620 PMID:22491945 PMID:22542183 PMID:23230003 PMID:24267886 PMID:24810580 PMID:25363760 PMID:25533962 PMID:25741868 PMID:25938782 PMID:25979662 PMID:26182416 PMID:27453576 PMID:28589569 PMID:28891213 PMID:28960836 PMID:31474318 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Neurodevelopmental Disorders 4622
        intellectual disability 2167
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Hemic and Lymphatic Diseases 2069
        hematopoietic system disease 1655
          anemia 418
            normocytic anemia 183
              hemolytic anemia 183
                congenital hemolytic anemia 139
                  hemoglobinopathy 105
                    thalassemia 74
                      Delta-Thalassemia 4
                        delta beta-thalassemia 4
                          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
paths to the root