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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Adrenocorticotropin receptor defect
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Accession:HP:0008259 term browser browse the term
Definition:Adrenal insufficiency secondary to a defect in the ACTH receptor.
Synonyms:exact_synonym: ACTH receptor defect;   ACTHR defect;   Adrenocorticotropic hormone-resistant adrenal insufficiency
 xref: UMLS:C4021548


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Adrenocorticotropin receptor defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO MIM:231550 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 95600
    Phenotypic abnormality 95228
      Abnormality of the endocrine system 5616
        Abnormality of the adrenal glands 265
          Abnormality of adrenal physiology 120
            Adrenal insufficiency 84
              Central adrenal insufficiency 18
                Adrenocorticotropin receptor defect 1
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