Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of body height (HP:0000002)help
Parent Node:
expandAbnormal upper to lower segment ratio (HP:0012772)help
..Starting node
..expandIncreased upper to lower segment ratio (HP:0012774)help
Term ID: 12774
Name: Increased upper to lower segment ratio
Synonym:
Definition: Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.
Comments:
Reference: HP:0012774
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandReduced upper to lower segment ratio (HP:0012773) 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:0012774HP:0012774Increased upper to lower segment ratio0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0012774HP:0012774Increased upper to lower segment ratio0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62


Genes (2) :FBN2 FGD1

Diseases (2) :OMIM:121050 OMIM:305400
 

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