Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of mouth shape (HP:0011338)help
Parent Node:
expandOpen mouth (HP:0000194)help
Parent Node:
expandTriangular mouth (HP:0000207)help
..Starting node
..expandTriangular-shaped open mouth (HP:0200096)help
Term ID: 200096
Name: Triangular-shaped open mouth
Synonym: Triangular-shaped open mouth
Definition: A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.
Comments:
Reference: HP:0200096
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:0200096HP:0200096Triangular-shaped open mouth0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0200096HP:0200096Triangular-shaped open mouth0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37


Genes (2) :INPP5E SNRPN

Diseases (2) :OMIM:213300 ORPHA:177907
 

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