Human Phenotype Ontology 
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Abnormal blood oxygen level (HP:0500165)help
Term ID: 500165
Name: Abnormal blood oxygen level
Synonym: Abnormal blood O2 level; Abnormal blood oxygen levels; Abnormal O2 blood concentration
Definition: An abnormality of the partial pressure of oxygen in the arterial blood.
Comments:
Reference: HP:0500165
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0500165HP:0500165Abnormal blood oxygen level0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndrome147
HP:0500165HP:0500165Abnormal blood oxygen level0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0500165HP:0500165Abnormal blood oxygen level0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0500165HP:0500165Abnormal blood oxygen level0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0500165HP:0500165Abnormal blood oxygen level0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0500165HP:0500165Abnormal blood oxygen level0CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndrome2
HP:0500165HP:0500165Abnormal blood oxygen level0CSF2RA CL E G H14382435ORPHA:264675Hereditary pulmonary alveolar proteinosis15
HP:0500165HP:0500165Abnormal blood oxygen level0CSF2RB CL E G H14392436ORPHA:264675Hereditary pulmonary alveolar proteinosis17
HP:0500165HP:0500165Abnormal blood oxygen level0EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosis40
HP:0500165HP:0500165Abnormal blood oxygen level0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0500165HP:0500165Abnormal blood oxygen level0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0500165HP:0500165Abnormal blood oxygen level0FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0500165HP:0500165Abnormal blood oxygen level0GATA6 CL E G H26274174ORPHA:2140Congenital diaphragmatic hernia37
HP:0500165HP:0500165Abnormal blood oxygen level0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0500165HP:0500165Abnormal blood oxygen level0HBB CL E G H30434827OMIM:603903Sickle cell anemia580
HP:0500165HP:0500165Abnormal blood oxygen level0HBB CL E G H30434827ORPHA:232Sickle cell anemia580
HP:0500165HP:0500165Abnormal blood oxygen level0HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosis2
HP:0500165HP:0500165Abnormal blood oxygen level0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0500165HP:0500165Abnormal blood oxygen level0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0500165HP:0500165Abnormal blood oxygen level0LONP1 CL E G H93619479ORPHA:2140Congenital diaphragmatic hernia8
HP:0500165HP:0500165Abnormal blood oxygen level0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0500165HP:0500165Abnormal blood oxygen level0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0500165HP:0500165Abnormal blood oxygen level0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0500165HP:0500165Abnormal blood oxygen level0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0500165HP:0500165Abnormal blood oxygen level0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0500165HP:0500165Abnormal blood oxygen level0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0500165HP:0500165Abnormal blood oxygen level0RHAG CL E G H600510006ORPHA:71275Rh deficiency syndrome13
HP:0500165HP:0500165Abnormal blood oxygen level0RHCE CL E G H600610008ORPHA:71275Rh deficiency syndrome8
HP:0500165HP:0500165Abnormal blood oxygen level0RHD CL E G H600710009ORPHA:71275Rh deficiency syndrome16
HP:0500165HP:0500165Abnormal blood oxygen level0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0500165HP:0500165Abnormal blood oxygen level0SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndrome51
HP:0500165HP:0500165Abnormal blood oxygen level0SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndrome33
HP:0500165HP:0500165Abnormal blood oxygen level0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0500165HP:0500165Abnormal blood oxygen level0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasis7
HP:0500165HP:0500165Abnormal blood oxygen level0SLC35A1 CL E G H1055911021ORPHA:238459SLC35A1-CDG24
HP:0500165HP:0500165Abnormal blood oxygen level0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0500165HP:0500165Abnormal blood oxygen level0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0500165HP:0500165Abnormal blood oxygen level0ZFPM2 CL E G H2341416700ORPHA:2140Congenital diaphragmatic hernia31
HP:0500165HP:0012419Hyperoxemia1 CL E G H
HP:0500165HP:0012418Hypoxemia1ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndromeHP:0040281 - Very frequent147
HP:0500165HP:0012418Hypoxemia1ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0500165HP:0012418Hypoxemia1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0500165HP:0012418Hypoxemia1BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0500165HP:0012418Hypoxemia1CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0500165HP:0012418Hypoxemia1CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndromeHP:0040283 - Occasional2
HP:0500165HP:0012418Hypoxemia1CSF2RA CL E G H14382435ORPHA:264675Hereditary pulmonary alveolar proteinosisHP:0040282 - Frequent15
HP:0500165HP:0012418Hypoxemia1CSF2RB CL E G H14392436ORPHA:264675Hereditary pulmonary alveolar proteinosisHP:0040282 - Frequent17
HP:0500165HP:0012418Hypoxemia1EIF2AK4 CL E G H44027519687ORPHA:199241Pulmonary capillary hemangiomatosisHP:0040282 - Frequent40
HP:0500165HP:0012418Hypoxemia1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0500165HP:0012418Hypoxemia1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0500165HP:0012418Hypoxemia1FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040283 - Occasional145
HP:0500165HP:0012418Hypoxemia1GATA6 CL E G H26274174ORPHA:2140Congenital diaphragmatic herniaHP:0040282 - Frequent37
HP:0500165HP:0012418Hypoxemia1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0500165HP:0012418Hypoxemia1HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0500165HP:0012418Hypoxemia1HBB CL E G H30434827ORPHA:232Sickle cell anemiaHP:0040283 - Occasional580
HP:0500165HP:0012418Hypoxemia1HLA-DRB1 CL E G H31234948ORPHA:747Autoimmune pulmonary alveolar proteinosisHP:0040282 - Frequent2
HP:0500165HP:0012418Hypoxemia1HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0500165HP:0012418Hypoxemia1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0500165HP:0012418Hypoxemia1LONP1 CL E G H93619479ORPHA:2140Congenital diaphragmatic herniaHP:0040282 - Frequent8
HP:0500165HP:0012418Hypoxemia1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0500165HP:0012418Hypoxemia1MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0500165HP:0012418Hypoxemia1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0500165HP:0012418Hypoxemia1NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0500165HP:0012418Hypoxemia1PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease.86
HP:0500165HP:0012418Hypoxemia1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0500165HP:0012418Hypoxemia1RHAG CL E G H600510006ORPHA:71275Rh deficiency syndromeHP:0040283 - Occasional13
HP:0500165HP:0012418Hypoxemia1RHCE CL E G H600610008ORPHA:71275Rh deficiency syndromeHP:0040283 - Occasional8
HP:0500165HP:0012418Hypoxemia1RHD CL E G H600710009ORPHA:71275Rh deficiency syndromeHP:0040283 - Occasional16
HP:0500165HP:0012418Hypoxemia1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0500165HP:0012418Hypoxemia1SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndromeHP:0040281 - Very frequent51
HP:0500165HP:0012418Hypoxemia1SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndromeHP:0040281 - Very frequent33
HP:0500165HP:0012418Hypoxemia1SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0500165HP:0012418Hypoxemia1SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040283 - Occasional7
HP:0500165HP:0012418Hypoxemia1SLC35A1 CL E G H1055911021ORPHA:238459SLC35A1-CDGHP:0040281 - Very frequent24
HP:0500165HP:0012418Hypoxemia1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0500165HP:0012418Hypoxemia1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0500165HP:0012418Hypoxemia1ZFPM2 CL E G H2341416700ORPHA:2140Congenital diaphragmatic herniaHP:0040282 - Frequent31
HP:0500165HP:0033367Orthodeoxia2 CL E G H
HP:0500165HP:0034312Nocturnal hypoxemia2 CL E G H
HP:0500165HP:0034038Silent hypoxemia2 CL E G H
HP:0500165HP:0030874Oxygen desaturation on exertion2NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0500165HP:0030874Oxygen desaturation on exertion2SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040282 - Frequent7


Genes (34) :ABCA3 ACTA1 BTNL2 CD40LG CNOT1 CSF2RA CSF2RB EIF2AK4 ENG FBN1 FGFR3 GATA6 HACD1 HBB HLA-DRB1 ITGA7 LONP1 MAP3K20 MARS1 MYL2 NKX2-1 PHOX2B PTRH2 RHAG RHCE RHD SELENON SFTPB SFTPC SLC34A2 SLC35A1 TPM2 TPM3 ZFPM2

Diseases (24) :ORPHA:70587 OMIM:610921 ORPHA:2020 OMIM:612387 OMIM:308230 ORPHA:556955 ORPHA:264675 ORPHA:199241 OMIM:187300 ORPHA:284979 ORPHA:15 ORPHA:2140 OMIM:603903 ORPHA:232 ORPHA:747 OMIM:181000 OMIM:615486 OMIM:610978 OMIM:209880 ORPHA:456312 ORPHA:71275 OMIM:610913 ORPHA:60025 ORPHA:238459
 

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