Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormality of mouth shape (HP:0011338)help
..Starting node
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Pursed lips (HP:0000205)help
Term ID: 205
Name: Pursed lips
Synonym: Pursed lips; Tightly closed lips
Definition: An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
Comments:
Reference: HP:0000205
Genes and Diseases:
 
       Child Nodes:
........expandWhistling appearance (HP:0000346) help

 Sister Nodes: 
..expandAsymmetry of the mouth (HP:0009941) help
..expandDownturned corners of mouth (HP:0002714) help
..expandOpen mouth (HP:0000194) help
..expandTransverse facial cleft (HP:0100731) help
..expandTriangular mouth (HP:0000207) help
..expandUpturned corners of mouth (HP:0010805) 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:0000205HP:0000205Pursed lips0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040281 - Very frequent345
HP:0000205HP:0000205Pursed lips0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0000205HP:0000205Pursed lips0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0000205HP:0000205Pursed lips0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0000205HP:0000205Pursed lips0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000205HP:0000205Pursed lips0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0000205HP:0000346Whistling appearance1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166


Genes (5) :HSPG2 LIFR MYH3 MYL11 NALCN

Diseases (6) :ORPHA:800 OMIM:255800 OMIM:601559 OMIM:193700 OMIM:619110 OMIM:616266
 

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