Human Phenotype Ontology 
Grandparent Node:
expand
Abnormally folded helix (HP:0008544)help
Parent Node:
expand
Underfolded helix (HP:0008577)help
..Starting node
..expand
Underfolded superior helices (HP:0008583)help
Term ID: 8583
Name: Underfolded superior helices
Synonym:
Definition: A condition in which the superior portion of the helix is folded over to a lesser degree than normal.
Comments:
Reference: HP:0008583
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008583HP:0008583Underfolded superior helices0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0008583HP:0008583Underfolded superior helices0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122


Genes (2) :SLC16A2 SLC6A8

Diseases (2) :OMIM:300523 OMIM:300352
 

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