Human Phenotype Ontology 
Grandparent Node:
expandAbnormal tracheobronchial morphology (HP:0005607)help
Parent Node:
expandAbnormal tracheal morphology (HP:0002778)help
..Starting node
..expandAnomalous tracheal cartilage (HP:0004468)help
Term ID: 4468
Name: Anomalous tracheal cartilage
Synonym: Abnormal tracheal cartilaginous ring
Definition: An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).
Comments:
Reference: HP:0004468
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDiverticulosis of trachea (HP:0006509) help
..expandNeoplasm of the trachea (HP:0100551) help
..expandTracheal calcification (HP:0002787) help
..expandTracheal cartilaginous sleeve (HP:0005347) 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:0004468HP:0004468Anomalous tracheal cartilage0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0004468HP:0004468Anomalous tracheal cartilage0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0004468HP:0004468Anomalous tracheal cartilage0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0004468HP:0041094Complete tracheal ring1 CL E G H


Genes (3) :EBP FGFR2 SNRPB

Diseases (3) :ORPHA:35173 OMIM:101200 OMIM:117650
 

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