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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, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
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Accession:DOID:9002875 term browser browse the term
Definition:This disease is characterized by clinically significant pharyngeal lymphoid hypertrophy, with adenoid overgrowth, frequent upper airway infections, and sleep apnea. Macrocephaly without structural brain abnormalities is present, and patients exhibit increased weight for height as well as delayed gross motor and impaired intellectual development.
Synonyms:exact_synonym: MNDLFH
 primary_id: OMIM:619769


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MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZBTB7A zinc finger and BTB domain containing 7A ISO ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM
ClinVar		 PMID:25741868 PMID:31645653 PMID:34515416 NCBI chr 2:74,678,293...74,699,347
Ensembl chr 2:74,681,193...74,694,869 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Neurodevelopmental Disorders 6636
        MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN 1
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6057
                complex cortical dysplasia with other brain malformations 1565
                  Malformations of Cortical Development, Group I 1349
                    Macrocephaly 85
                      MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN 1
paths to the root