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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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
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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.


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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 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          anemia 409
            normocytic anemia 178
              hemolytic anemia 178
                congenital hemolytic anemia 134
                  hemoglobinopathy 100
                    thalassemia 69
                      Delta-Thalassemia 4
                        delta beta-thalassemia 4
                          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.