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
..expandReduced upper to lower segment ratio (HP:0012773)help
Term ID: 12773
Name: Reduced upper to lower segment ratio
Synonym:
Definition: Decreased 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. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.
Comments:
Reference: HP:0012773
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIncreased upper to lower segment ratio (HP:0012774) 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:0012773HP:0012773Reduced upper to lower segment ratio0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361


Genes (1) :FBN1

Diseases (1) :OMIM:154700
 

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