Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system morphology (HP:0012252)help
Parent Node:
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Abnormal lung morphology (HP:0002088)help
..Starting node
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Atelectasis (HP:0100750)help
Term ID: 100750
Name: Atelectasis
Synonym: Partial or complete collapse of part or entire lung; Pulmonary atelectasis
Definition: Collapse of part of a lung associated with absence of inflation (air) of that part.
Comments:
Reference: HP:0100750
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal lung lobation (HP:0002101) help
..expandAbnormal pleura morphology (HP:0002103) help
..expandAbnormal pulmonary interstitial morphology (HP:0006530) help
..expandAbnormal pulmonary lymphatics (HP:0006529) help
..expandAbnormal subpleural morphology (HP:0031630) help
..expandAbnormality of the pulmonary vasculature (HP:0004930) help
..expandAplasia/Hypoplasia of the lungs (HP:0006703) help
..expandBronchogenic cyst (HP:0100730) help
..expandBronchopulmonary sequestration (HP:0010960) help
..expandChronic lung disease (HP:0006528) help
..expandEmphysema (HP:0002097) help
..expandHemoptysis (HP:0002105) help
..expandHypersensitivity pneumonitis (HP:0006516) help
..expandIntraalveolar nodular calcifications (HP:0006514) help
..expandIntraalveolar phospholipid accumulation (HP:0006517) help
..expandLung abscess (HP:0025044) help
..expandMultiple pulmonary cysts (HP:0005948) help
..expandNeoplasm of the lung (HP:0100526) help
..expandPneumothorax (HP:0002107) help
..expandPulmonary edema (HP:0100598) help
..expandPulmonary fibrosis (HP:0002206) help
..expandPulmonary granulomatosis (HP:0030250) help
..expandPulmonary hemorrhage (HP:0040223) help
..expandPulmonary infiltrates (HP:0002113) help
..expandPulmonary opacity (HP:0031457) help
..expandPulmonary pneumatocele (HP:0025419) help
..expandRespiratory tract infection (HP:0011947) help
..expandUnilateral primary pulmonary dysgenesis (HP:0006549) 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:0100750HP:0100750Atelectasis0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent147
HP:0100750HP:0100750Atelectasis0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0100750HP:0100750Atelectasis0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0100750HP:0100750Atelectasis0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0100750HP:0100750Atelectasis0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional36
HP:0100750HP:0100750Atelectasis0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional126
HP:0100750HP:0100750Atelectasis0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional182
HP:0100750HP:0100750Atelectasis0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional23
HP:0100750HP:0100750Atelectasis0CCNO CL E G H1030918576OMIM:615872Ciliary dyskinesia, primary, 29.23
HP:0100750HP:0100750Atelectasis0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional23
HP:0100750HP:0100750Atelectasis0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0100750HP:0100750Atelectasis0CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040284 - Very rare9
HP:0100750HP:0100750Atelectasis0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0100750HP:0100750Atelectasis0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional116
HP:0100750HP:0100750Atelectasis0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional78
HP:0100750HP:0100750Atelectasis0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional63
HP:0100750HP:0100750Atelectasis0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional27
HP:0100750HP:0100750Atelectasis0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional62
HP:0100750HP:0100750Atelectasis0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional21
HP:0100750HP:0100750Atelectasis0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional542
HP:0100750HP:0100750Atelectasis0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional527
HP:0100750HP:0100750Atelectasis0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional18
HP:0100750HP:0100750Atelectasis0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 173
HP:0100750HP:0100750Atelectasis0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional73
HP:0100750HP:0100750Atelectasis0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional104
HP:0100750HP:0100750Atelectasis0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional2
HP:0100750HP:0100750Atelectasis0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional167
HP:0100750HP:0100750Atelectasis0DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0100750HP:0100750Atelectasis0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional44
HP:0100750HP:0100750Atelectasis0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional1
HP:0100750HP:0100750Atelectasis0GAS8 CL E G H26224166OMIM:616726Ciliary dyskinesia, primary, 339
HP:0100750HP:0100750Atelectasis0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional9
HP:0100750HP:0100750Atelectasis0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0100750HP:0100750Atelectasis0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0100750HP:0100750Atelectasis0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional21
HP:0100750HP:0100750Atelectasis0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0100750HP:0100750Atelectasis0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040283 - Occasional411
HP:0100750HP:0100750Atelectasis0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional13
HP:0100750HP:0100750Atelectasis0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0100750HP:0100750Atelectasis0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0100750HP:0100750Atelectasis0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional50
HP:0100750HP:0100750Atelectasis0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0100750HP:0100750Atelectasis0ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20.
HP:0100750HP:0100750Atelectasis0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional201
HP:0100750HP:0100750Atelectasis0PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 3HP:0040282 - Frequent59
HP:0100750HP:0100750Atelectasis0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040284 - Very rare759
HP:0100750HP:0100750Atelectasis0RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040282 - Frequent69
HP:0100750HP:0100750Atelectasis0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional200
HP:0100750HP:0100750Atelectasis0RPGR CL E G H610310295OMIM:300455RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS200
HP:0100750HP:0100750Atelectasis0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional31
HP:0100750HP:0100750Atelectasis0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional5
HP:0100750HP:0100750Atelectasis0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional58
HP:0100750HP:0100750Atelectasis0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional20
HP:0100750HP:0100750Atelectasis0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent51
HP:0100750HP:0100750Atelectasis0SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent33
HP:0100750HP:0100750Atelectasis0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional45
HP:0100750HP:0100750Atelectasis0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional15
HP:0100750HP:0100750Atelectasis0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040281 - Very frequent110
HP:0100750HP:0100750Atelectasis0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional3
HP:0100750HP:0100750Atelectasis0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0100750HP:0100750Atelectasis0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0100750HP:0100750Atelectasis0TP73 CL E G H716112003OMIM:619466CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47
HP:0100750HP:0100750Atelectasis0TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent1090
HP:0100750HP:0100750Atelectasis0TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent2738
HP:0100750HP:0100750Atelectasis0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0100750HP:0100750Atelectasis0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional20
HP:0100750HP:0033658Rounded atelectasis1 CL E G H
HP:0100750HP:0033657Linear atelectasis1 CL E G H


Genes (74) :ABCA3 ARVCF ASAH1 B3GALT6 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 COMT CXCR4 CYBB DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 GP1BB HIRA HYDIN JMJD1C LAMA2 LRRC56 MCIDAS NEK10 NHLRC2 NKX2-1 NME8 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PAX3 PLEC RIPK4 RPGR RREB1 RSPH1 RSPH3 RSPH4A RSPH9 SEC24C SFTPB SFTPC SPAG1 SPEF2 STAT3 STK36 TBX1 TP73 TSC1 TSC2 TTC12 UFD1 ZMYND10

Diseases (24) :ORPHA:70587 ORPHA:567 ORPHA:333 ORPHA:536467 ORPHA:244 OMIM:615872 ORPHA:51636 OMIM:306400 OMIM:244400 OMIM:615294 OMIM:616726 ORPHA:258 OMIM:618278 OMIM:610978 ORPHA:534 OMIM:615067 ORPHA:896 ORPHA:254361 ORPHA:1401 OMIM:300455 ORPHA:2314 OMIM:188400 OMIM:619466 ORPHA:538
 

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