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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 or isolated pituitary hormone deficiency 1
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Accession:DOID:0061019 term browser browse the term
Definition:A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. (DO)
Synonyms:exact_synonym: CPHD1;   Combined Pituitary Hormone Deficiency 1;   POU1F1-RELATED CONDITION;   combined pituitary hormone deficiency, dominant/recessive
 alt_id: DOID:9005344
 xref: MESH:C567803;   MIM:613038;   MONDO:0024464


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combined or isolated pituitary hormone deficiency 1 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: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 NCBI chr 7:13,836,665...14,043,996
Ensembl chr 7:13,836,667...14,044,156 		JBrowse link
G CHMP2B charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr31:789,586...817,925
Ensembl chr31:791,139...817,895 		JBrowse link
G HESX1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chr20:33,193,813...33,197,226
Ensembl chr20:33,195,123...33,196,601 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:28492532 NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 NCBI chr 7:13,779,574...13,825,650
Ensembl chr 7:13,779,774...13,821,317 		JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: POU1F1-related condition | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 OMIM
ClinVar		 PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 More... NCBI chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    Pathological Conditions, Signs and Symptoms 12322
      Pathologic Processes 7822
        Disease Attributes 900
          Facies 514
            combined or isolated pituitary hormone deficiency 1 6
Path 2
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      nervous system disease 13506
        central nervous system disease 12077
          brain disease 11341
            hypothalamic disease 483
              pituitary gland disease 248
                hypopituitarism 75
                  combined pituitary hormone deficiency 14
                    combined or isolated pituitary hormone deficiency 1 6
paths to the root