Human Phenotype Ontology 
Grandparent Node:
expandAbnormal tracheal morphology (HP:0002778)help
Parent Node:
expandTracheal stenosis (HP:0002777)help
..Starting node
..expandTracheal atresia (HP:0100682)help
Term ID: 100682
Name: Tracheal atresia
Synonym:
Definition: A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.
Comments:
Reference: HP:0100682
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLaryngotracheal stenosis (HP:0004894) 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:0100682HP:0100682Tracheal atresia0GRIP1 CL E G H2342618708OMIM:617667Fraser syndrome 3.80
HP:0100682HP:0100682Tracheal atresia0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040282 - Frequent31
HP:0100682HP:0100682Tracheal atresia0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040282 - Frequent167
HP:0100682HP:0100682Tracheal atresia0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040281 - Very frequent33


Genes (4) :GRIP1 HYLS1 KIF7 MGP

Diseases (3) :OMIM:617667 ORPHA:2189 ORPHA:85202
 

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