Human Phenotype Ontology 
Grandparent Node:
expandAbnormal tracheobronchial morphology (HP:0005607)help
Parent Node:
expandAbnormal tracheal morphology (HP:0002778)help
..Starting node
..expandTracheal cartilaginous sleeve (HP:0005347)help
Term ID: 5347
Name: Tracheal cartilaginous sleeve
Synonym:
Definition: Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.
Comments:
Reference: HP:0005347
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnomalous tracheal cartilage (HP:0004468) help
..expandDiverticulosis of trachea (HP:0006509) help
..expandNeoplasm of the trachea (HP:0100551) help
..expandTracheal calcification (HP:0002787) help
..expandTracheal stenosis (HP:0002777) help
..expandTracheoesophageal fistula (HP:0002575) help
..expandTracheomalacia (HP:0002779) help
..expandTracheomegaly (HP:0010778) 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:0005347HP:0005347Tracheal cartilaginous sleeve0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0005347HP:0005347Tracheal cartilaginous sleeve0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175


Genes (2) :FGFR1 FGFR2

Diseases (1) :OMIM:101600
 

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