Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the respiratory system (HP:0002086)help
Parent Node:
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Abnormal respiratory system physiology (HP:0002795)help
..Starting node
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Abnormal mucociliary clearance (HP:0031602)help
Term ID: 31602
Name: Abnormal mucociliary clearance
Synonym: Abnormal mucociliary transport
Definition: An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating.
Comments:
Reference: HP:0031602
Genes and Diseases:
 
       Child Nodes:
........expandImpaired nasal mucociliary clearance (HP:0031603) help

 Sister Nodes: 
..expandAbnormal blood gas level (HP:0012415) help
..expandAbnormal breath sound (HP:0030829) help
..expandAbnormal bronchus physiology (HP:0025427) help
..expandAbnormal nasal mucus secretion (HP:0031416) help
..expandAbnormal pattern of respiration (HP:0002793) help
..expandAbnormal respiratory motile cilium physiology (HP:0012261) help
..expandAbnormal response to short acting pulmonary vasodilator (HP:0030893) help
..expandAbnormality of pulmonary circulation (HP:0030875) help
..expandAbnormality on pulmonary function testing (HP:0030878) help
..expandAirway obstruction (HP:0006536) help
..expandAspiration (HP:0002835) help
..expandAsthma (HP:0002099) help
..expandBreathing dysregulation (HP:0005957) help
..expandCough (HP:0012735) help
..expandCyanosis (HP:0000961) help
..expandDyspnea (HP:0002094) help
..expandobsolete Decreased pulmonary function (HP:0005952) help
..expandRecurrent singultus (HP:0100247) help
..expandReduced vital capacity (HP:0002792) help
..expandRespiratory insufficiency (HP:0002093) help
..expandRestrictive ventilatory defect (HP:0002091) help
..expandSneeze (HP:0025095) help
..expandSnoring (HP:0025267) help
..expandTracheal tug on inspiration (HP:0025008) help
..expandUpper airway obstruction (HP:0002781) help
..expandWeakness of muscles of respiration (HP:0004347) 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:0031602HP:0031602Abnormal mucociliary clearance0GAS2L2 CL E G H24617624846OMIM:618449Ciliary dyskinesia, primary, 411
HP:0031602HP:0031602Abnormal mucociliary clearance0TP73 CL E G H716112003OMIM:619466CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0031602HP:0031603Impaired nasal mucociliary clearance1GAS2L2 CL E G H24617624846OMIM:618449Ciliary dyskinesia, primary, 411


Genes (2) :GAS2L2 TP73

Diseases (2) :OMIM:618449 OMIM:619466
 

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