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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:Ochronosis
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Accession:HP:0030764 term browser browse the term
Definition:Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.
Synonyms:exact_synonym: Ochronotic arthritis
 xref: SNOMEDCT_US:410042009;   UMLS:C0028817


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the integument 0
        Abnormality of the skin 0
          Abnormal skin morphology 0
            Ochronosis 0
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