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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:combined pituitary hormone deficiency 4
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Accession:DOID:0061017 term browser browse the term
Definition:A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25. (DO)
Synonyms:exact_synonym: CPHD4;   LHX4-RELATED CONDITION;   combined pituitary hormone deficiency with or without cerebellar defects;   short stature, pituitary and cerebellar defects, and small sella turcica;   short stature-pituitary and cerebellar defects-small sella turcica syndrome
 alt_id: DOID:9008403
 xref: GARD:10604;   MESH:C567492;   MIM:262700;   MONDO:0009880



show annotations for term's descendants           Sort by:
combined pituitary hormone deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: LHX4-related condition | ClinVar Annotator: match by term: Short stature-pituitary and cerebellar defects-small sella turcica syndrome ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr13:67,726,786...67,863,392 JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: LHX4-related condition | ClinVar Annotator: match by term: Short stature-pituitary and cerebellar defects-small sella turcica syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr13:67,877,109...67,917,219 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        Congenital Abnormalities 7885
          Multiple Abnormalities 3842
            combined pituitary hormone deficiency 4 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            hypothalamic disease 509
              pituitary gland disease 275
                hypopituitarism 75
                  combined pituitary hormone deficiency 13
                    combined pituitary hormone deficiency 4 2
paths to the root