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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:Snail-like ilia
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Accession:HP:0031026 term browser browse the term
Definition:The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.
Comment:This feature was first observed in a condition that was termed Schneckenbecken dysplasia, Schneckenbecken is a German word that means snail-like pelvis.
Synonyms:exact_synonym: Snail-like pelvis;   Snail-shaped ilia
 related_synonym: Schneckenbecken dysplasia


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Snail-like ilia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf141 chromosome 1 open reading frame 141 IAGP ClinVar Annotator: match by term: Schneckenbecken dysplasia ClinVar NCBI chr 1:67,092,165...67,141,646
Ensembl chr 1:67,092,165...67,231,853 		JBrowse link
G IL12RB2 interleukin 12 receptor subunit beta 2 IAGP ClinVar Annotator: match by term: Schneckenbecken dysplasia ClinVar NCBI chr 1:67,307,364...67,398,724
Ensembl chr 1:67,307,364...67,398,724 		JBrowse link
G IL23R interleukin 23 receptor IAGP ClinVar Annotator: match by term: Schneckenbecken dysplasia ClinVar NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP ClinVar Annotator: match by term: Schneckenbecken dysplasia ClinVar
HPO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17952091 PMID:19508970 More... MIM:269250 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormality of the skeletal system 8608
          Abnormal skeletal morphology 8024
            Abnormal appendicular skeleton morphology 2150
              Abnormal pelvic girdle bone morphology 664
                Abnormal hip bone morphology 603
                  Abnormal ilium morphology 114
                    Snail-like ilia 4
paths to the root