Human Phenotype Ontology 
Grandparent Node:
expandAbnormal pelvic girdle bone morphology (HP:0002644)help
Parent Node:
expandAbnormal pelvis bone morphology (HP:0040163)help
..Starting node
..expandHalberd-shaped pelvis (HP:0002826)help
Term ID: 2826
Name: Halberd-shaped pelvis
Synonym: Halberd-shaped pelvis bone
Definition: An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).
Comments:
Reference: HP:0002826
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLarge pelvis bone (HP:0010779) help
..expandNarrow pelvis bone (HP:0003275) help
..expandPelvic bone asymmetry (HP:0010453) help
..expandPelvic bone exostoses (HP:0003276) help
..expandSquare pelvis bone (HP:0003278) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002826HP:0002826Halberd-shaped pelvis0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214
HP:0002826HP:0002826Halberd-shaped pelvis0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0002826HP:0002826Halberd-shaped pelvis0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type214


Genes (1) :TRPV4

Diseases (3) :ORPHA:2635 OMIM:156530 OMIM:184252
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.