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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, RECESSIVE;   CPHD2;   Hanhart Dwarfism;   ateliotic dwarfism with hypogonadism;   combined pituitary hormone deficiency type 2;   pituitary dwarfism III
 broad_synonym: PROP1-related condition
 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 chr31:789,586...817,925
Ensembl chr31:791,139...817,895 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		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 chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		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 chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		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 OMIM
ClinVar		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr11:2,739,958...2,742,576
Ensembl chr11:2,739,958...2,743,533 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      endocrine system disease 6285
        pituitary gland disease 248
          hypopituitarism 75
            combined pituitary hormone deficiency 14
              combined pituitary hormone deficiency 2 5
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 pituitary hormone deficiency 2 5
paths to the root