Human Phenotype Ontology 
Grandparent Node:
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Abnormality on pulmonary function testing (HP:0030878)help
Parent Node:
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Abnormal DLCO (HP:0045049)help
..Starting node
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Decreased DLCO (HP:0045051)help
Term ID: 45051
Name: Decreased DLCO
Synonym: Decreased diffusing capacity
Definition: Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.
Comments:
Reference: HP:0045051
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIncreased DLCO (HP:0045050) 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:0045051HP:0045051Decreased DLCO0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0045051HP:0045051Decreased DLCO0COPA CL E G H13142230OMIM:616414AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK5
HP:0045051HP:0045051Decreased DLCO0CSF2RA CL E G H14382435OMIM:300770SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP415
HP:0045051HP:0045051Decreased DLCO0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040281 - Very frequent40
HP:0045051HP:0045051Decreased DLCO0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0045051HP:0045051Decreased DLCO0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosisHP:0040282 - Frequent2
HP:0045051HP:0045051Decreased DLCO0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0045051HP:0045051Decreased DLCO0NDUFAF6 CL E G H13768228625OMIM:618913FANCONI RENOTUBULAR SYNDROME 5; FRTS539
HP:0045051HP:0045051Decreased DLCO0PARN CL E G H50738609OMIM:616371PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT426
HP:0045051HP:0045051Decreased DLCO0RTEL1 CL E G H5175015888OMIM:616373PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT377
HP:0045051HP:0045051Decreased DLCO0SFTPA1 CL E G H65350910798OMIM:619611INTERSTITIAL LUNG DISEASE 1; ILD119
HP:0045051HP:0045051Decreased DLCO0SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0045051HP:0045051Decreased DLCO0SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0045051HP:0045051Decreased DLCO0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0045051HP:0045051Decreased DLCO0SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B164
HP:0045051HP:0045051Decreased DLCO0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0045051HP:0045051Decreased DLCO0TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0045051HP:0045051Decreased DLCO0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 360
HP:0045051HP:0045051Decreased DLCO0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0045051HP:0045051Decreased DLCO0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5


Genes (17) :ABCC6 COPA CSF2RA EIF2AK4 HLA-DRB1 MUC5B NDUFAF6 PARN RTEL1 SFTPA1 SFTPA2 SFTPC SMPD1 TERT TINF2 XYLT1 XYLT2

Diseases (15) :OMIM:264800 OMIM:616414 OMIM:300770 ORPHA:199241 OMIM:234810 ORPHA:747 OMIM:178500 OMIM:618913 OMIM:616371 OMIM:616373 OMIM:619611 OMIM:610913 OMIM:607616 OMIM:614742 OMIM:613990
 

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