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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 2
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Accession:DOID:0061020 term browser browse the term
Definition:A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: COMBINED PITUITARY HORMONE DEFICIENCY TYPE 2;   COMBINED PITUITARY HORMONE DEFICIENCY, RECESSIVE;   CPHD2;   Hanhart Dwarfism;   PROP1-RELATED CONDITION;   ateliotic dwarfism with hypogonadism;   pituitary dwarfism III
 alt_id: DOID:9008340
 xref: MESH:C563172;   MIM:262600;   MONDO:0009878


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combined pituitary hormone deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:16,783,971...16,810,500
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 3:29,424,620...29,432,637
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 ClinVar PMID:2014036 PMID:3008810 PMID:3615198 PMID:9536098 PMID:9634518 More... NCBI chr 7:23,793,096...23,885,631
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31755341 NCBI chr11:16,763,312...16,781,295
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: PROP1-related condition | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr10:35,772,968...35,775,443
Ensembl chr10:35,271,973...35,274,434 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      endocrine system disease 7039
        pituitary gland disease 276
          hypopituitarism 76
            combined pituitary hormone deficiency 14
              combined pituitary hormone deficiency 2 5
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        central nervous system disease 12627
          brain disease 11847
            hypothalamic disease 511
              pituitary gland disease 276
                hypopituitarism 76
                  combined pituitary hormone deficiency 14
                    combined pituitary hormone deficiency 2 5
paths to the root