Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the larynx (HP:0001600)help
Parent Node:
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Abnormal larynx morphology (HP:0025423)help
..Starting node
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Laryngeal atresia (HP:0008750)help
Term ID: 8750
Name: Laryngeal atresia
Synonym:
Definition: Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present.
Comments:
Reference: HP:0008750
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal aryepiglottic fold morphology (HP:0008744) help
..expandAbnormal cricoid cartilage morphology (HP:3000038) help
..expandAbnormal epiglottis morphology (HP:0005483) help
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal vocal cord morphology (HP:0008777) help
..expandAnteroposteriorly shortened larynx (HP:0005956) help
..expandCartilaginous ossification of larynx (HP:0008747) help
..expandLaryngeal calcification (HP:0008754) help
..expandLaryngeal cartilage malformation (HP:0008752) help
..expandLaryngeal cleft (HP:0008751) help
..expandLaryngeal cyst (HP:0100640) help
..expandLaryngeal edema (HP:0012027) help
..expandLaryngeal hypoplasia (HP:0008749) help
..expandLaryngeal obstruction (HP:0005945) help
..expandLaryngeal stenosis (HP:0001602) help
..expandLaryngeal web (HP:0005950) help
..expandLaryngomalacia (HP:0001601) help
..expandSubglottic stenosis (HP:0001607) 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:0008750HP:0008750Laryngeal atresia0FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0008750HP:0008750Laryngeal atresia0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0008750HP:0008750Laryngeal atresia0ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39


Genes (3) :FANCB FRAS1 ZIC3

Diseases (2) :OMIM:314390 OMIM:219000
 

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