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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:Childhood onset short-limb short stature
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Accession:HP:0011405 term browser browse the term
Synonyms:exact_synonym: Short-limb dwarfism identifiable during childhood
 alt_id: HP:0003523
 xref: UMLS:C1867487


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Childhood onset short-limb short stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO OMIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:429 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Growth abnormality 3509
        Growth delay 2130
          Short stature 1650
            Disproportionate short stature 157
              Disproportionate short-limb short stature 110
                Childhood onset short-limb short stature 2
paths to the root