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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Restrictive ventilatory defect (HP:0002091)help
Term ID: 2091
Name: Restrictive ventilatory defect
Synonym: Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive lung disease; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume
Definition: A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Comments:
Reference: HP:0002091
Genes and Diseases:
 
       Child Nodes:
........expandRestrictive deficit on pulmonary function testing (HP:0002111) help

 Sister Nodes: 
..expandAbnormal blood gas level (HP:0012415) help
..expandAbnormal breath sound (HP:0030829) help
..expandAbnormal bronchus physiology (HP:0025427) help
..expandAbnormal mucociliary clearance (HP:0031602) 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
..expandDecreased pulmonary function (HP:0005952) help
..expandDyspnea (HP:0002094) help
..expandRecurrent singultus (HP:0100247) help
..expandReduced vital capacity (HP:0002792) help
..expandRespiratory insufficiency (HP:0002093) 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002091HP:0002091Restrictive ventilatory defect0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1224124171640
HP:0002091HP:0002091Restrictive ventilatory defect0CHCHD10 CL E G H400916457050ORPHA124815559615903
HP:0002091HP:0002091Restrictive ventilatory defect0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM118202200120140
HP:0002091HP:0002091Restrictive ventilatory defect0CSF2RA CL E G H1438264675ORPHA14512435306250
HP:0002091HP:0002091Restrictive ventilatory defect0CSF2RA CL E G H1438300770Surfactant metabolism dysfunction, pulmonary, 4300770C2677877OMIM14512435306250
HP:0002091HP:0002091Restrictive ventilatory defect0CSF2RB CL E G H1439264675ORPHA13612436138981
HP:0002091HP:0002091Restrictive ventilatory defect0DDR2 CL E G H4921271665Spondylometaepiphyseal dysplasia short limb-hand type271665C1849011OMIM12662731191311
HP:0002091HP:0002091Restrictive ventilatory defect0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14772890300126
HP:0002091HP:0002091Restrictive ventilatory defect0FLNB CL E G H2317272460Spondylocarpotarsal synostosis syndrome272460C1848934OMIM111553755603381
HP:0002091HP:0002091Restrictive ventilatory defect0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0002091HP:0002091Restrictive ventilatory defect0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0002091HP:0002091Restrictive ventilatory defect0HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM16335163604982
HP:0002091HP:0002091Restrictive ventilatory defect0HPS4 CL E G H89781614073Hermansky-Pudlak syndrome 4614073C3484357OMIM139315844606682
HP:0002091HP:0002091Restrictive ventilatory defect0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0002091HP:0002091Restrictive ventilatory defect0OAS1 CL E G H4938264675ORPHA11528086164350
HP:0002091HP:0002091Restrictive ventilatory defect0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM175526270613629
HP:0002091HP:0002091Restrictive ventilatory defect0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM148410809608896
HP:0002091HP:0002091Restrictive ventilatory defect0TSC1 CL E G H7248538ORPHA1369012362605284
HP:0002091HP:0002091Restrictive ventilatory defect0TSC2 CL E G H7249538ORPHA1849512363191092
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002091HP:0002091Restrictive ventilatory defect0AGRN CL E G H37579098913ORPHA01782329103320
HP:0002091HP:0002091Restrictive ventilatory defect0AK9 CL E G H22126498913ORPHA04833814615358
HP:0002091HP:0002091Restrictive ventilatory defect0CD19 CL E G H9301572ORPHA03251633107265
HP:0002091HP:0002091Restrictive ventilatory defect0CD81 CL E G H9751572ORPHA01481701186845
HP:0002091HP:0002091Restrictive ventilatory defect0CHRNA1 CL E G H113498913ORPHA03981955100690
HP:0002091HP:0002091Restrictive ventilatory defect0CHRNB1 CL E G H114098913ORPHA03571961100710
HP:0002091HP:0002091Restrictive ventilatory defect0CHRND CL E G H114498913ORPHA04081965100720
HP:0002091HP:0002091Restrictive ventilatory defect0CHRNE CL E G H114598913ORPHA07951966100725
HP:0002091HP:0002091Restrictive ventilatory defect0COL13A1 CL E G H130598913ORPHA03972190120350
HP:0002091HP:0002091Restrictive ventilatory defect0CR2 CL E G H13801572ORPHA05162336120650
HP:0002091HP:0002091Restrictive ventilatory defect0CTLA4 CL E G H1493900ORPHA01902505123890
HP:0002091HP:0002091Restrictive ventilatory defect0DNASE1L3 CL E G H177636412ORPHA01332959602244
HP:0002091HP:0002091Restrictive ventilatory defect0DOK7 CL E G H28548998913ORPHA084026594610285
HP:0002091HP:0002091Restrictive ventilatory defect0HLA-B CL E G H310636426ORPHA0184932142830
HP:0002091HP:0002091Restrictive ventilatory defect0HLA-DPA1 CL E G H3113900ORPHA0154938142880
HP:0002091HP:0002091Restrictive ventilatory defect0HLA-DPB1 CL E G H3115900ORPHA0154940142858
HP:0002091HP:0002091Restrictive ventilatory defect0ICOS CL E G H298511572ORPHA01695351604558
HP:0002091HP:0002091Restrictive ventilatory defect0IKZF1 CL E G H1032036426ORPHA09713176603023
HP:0002091HP:0002091Restrictive ventilatory defect0LRP4 CL E G H403898913ORPHA07906696604270
HP:0002091HP:0002091Restrictive ventilatory defect0MS4A1 CL E G H9311572ORPHA0827315112210
HP:0002091HP:0002091Restrictive ventilatory defect0MUSK CL E G H459398913ORPHA04967525601296
HP:0002091HP:0002091Restrictive ventilatory defect0NFKB1 CL E G H47901572ORPHA03847794164011
HP:0002091HP:0002091Restrictive ventilatory defect0NFKB2 CL E G H47911572ORPHA03967795164012
HP:0002091HP:0002091Restrictive ventilatory defect0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA075216400606416
HP:0002091HP:0002091Restrictive ventilatory defect0PRKCD CL E G H55801572ORPHA03459399176977
HP:0002091HP:0002091Restrictive ventilatory defect0PRTN3 CL E G H5657900ORPHA0479495177020
HP:0002091HP:0002091Restrictive ventilatory defect0PTPN22 CL E G H26191900ORPHA0349652600716
HP:0002091HP:0002091Restrictive ventilatory defect0RAPSN CL E G H591398913ORPHA04339863601592
HP:0002091HP:0002091Restrictive ventilatory defect0RNF168 CL E G H165918420741ORPHA026626661612688
HP:0002091HP:0002091Restrictive ventilatory defect0SCN4A CL E G H632998913ORPHA0139110591603967
HP:0002091HP:0002091Restrictive ventilatory defect0TNFRSF13B CL E G H234951572ORPHA034118153604907
HP:0002091HP:0002091Restrictive ventilatory defect0TNFRSF13C CL E G H1156501572ORPHA013817755606269
HP:0002091HP:0002091Restrictive ventilatory defect0TNFSF12 CL E G H87421572ORPHA015211927602695
HP:0002091HP:0002091Restrictive ventilatory defect0TRAPPC11 CL E G H60684369847ORPHA077425751614138


Genes (52) :ACP5 AGRN AK9 CD19 CD81 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COL2A1 CR2 CSF2RA CSF2RB CTLA4 DDR2 DKC1 DNASE1L3 DOK7 FLNB GALNS GLB1 HLA-B HLA-DPA1 HLA-DPB1 HPS1 HPS4 ICOS IKZF1 LRP4 MEGF10 MS4A1 MUSK NFKB1 NFKB2 NLRP3 OAS1 PIEZO2 PRKCD PRTN3 PTPN22 RAPSN RNF168 SCN4A SGCG TNFRSF13B TNFRSF13C TNFSF12 TRAPPC11 TSC1 TSC2

Diseases (24) :607944 98913 1572 457050 183900 264675 300770 900 271665 305000 36412 272460 253000 253010 36426 203300 614073 614399 575 108145 420741 253700 369847 538
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.