Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | | | | 147 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:601887 | Malignant hyperthermia, susceptibility to, 5 | | | | 247 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | | | | 2 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | CSF2RA CL E G H | 1438 | 2435 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | | | | 15 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | CSF2RB CL E G H | 1439 | 2436 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | | | | 17 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | | | | 40 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | | | | 1361 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | | | | 145 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2140 | Congenital diaphragmatic hernia | | | | 37 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | | | | 580 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | | | | 580 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | | | | 2 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:2140 | Congenital diaphragmatic hernia | | | | 8 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | | | | 13 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | | | | 8 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | | | | 16 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | | | | 51 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | | | | 33 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | | | | 7 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | | | | 24 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0012415 | HP:0012415 | Abnormal blood gas level | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:2140 | Congenital diaphragmatic hernia | | | | 31 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | | | | 147 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | CACNA1S CL E G H | 779 | 1397 | OMIM:601887 | Malignant hyperthermia, susceptibility to, 5 | | | | 247 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | | | | 2 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | CSF2RA CL E G H | 1438 | 2435 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | | | | 15 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | CSF2RB CL E G H | 1439 | 2436 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | | | | 17 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | | | | 40 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | | | | 1361 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | | | | 145 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2140 | Congenital diaphragmatic hernia | | | | 37 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | | | | 580 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | | | | 580 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | | | | 2 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:2140 | Congenital diaphragmatic hernia | | | | 8 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | | | | 13 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | | | | 8 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | | | | 16 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | | | | 51 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | | | | 33 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | | | | 7 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | | | | 24 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0012415 | HP:0500164 | Abnormal blood carbon dioxide level | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0012415 | HP:0500165 | Abnormal blood oxygen level | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:2140 | Congenital diaphragmatic hernia | | | | 31 | | |
HP:0012415 | HP:0012419 | Hyperoxemia | 2 | CL E G H | | | | | | | | | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 247 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | CACNA1S CL E G H | 779 | 1397 | OMIM:601887 | Malignant hyperthermia, susceptibility to, 5 | . | | | 247 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | CSF2RA CL E G H | 1438 | 2435 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040282 - Frequent | | | 15 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | CSF2RB CL E G H | 1439 | 2436 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040282 - Frequent | | | 17 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040282 - Frequent | | | 40 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040283 - Occasional | | | 145 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040282 - Frequent | | | 37 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040283 - Occasional | | | 580 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | HP:0040282 - Frequent | | | 2 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | LONP1 CL E G H | 9361 | 9479 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040282 - Frequent | | | 8 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | . | | | 86 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | . | | | 86 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0012415 | HP:0012417 | Hypocapnia | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040283 - Occasional | | | 1200 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040282 - Frequent | | | 1200 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040283 - Occasional | | | 7 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | SLC35A1 CL E G H | 10559 | 11021 | ORPHA:238459 | SLC35A1-CDG | HP:0040281 - Very frequent | | | 24 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0012415 | HP:0012416 | Hypercapnia | 2 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0012415 | HP:0012418 | Hypoxemia | 2 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040282 - Frequent | | | 31 | | |
HP:0012415 | HP:0034312 | Nocturnal hypoxemia | 3 | CL E G H | | | | | | | | | | |
HP:0012415 | HP:0034038 | Silent hypoxemia | 3 | CL E G H | | | | | | | | | | |
HP:0012415 | HP:0033367 | Orthodeoxia | 3 | CL E G H | | | | | | | | | | |
HP:0012415 | HP:0030874 | Oxygen desaturation on exertion | 3 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0012415 | HP:0030874 | Oxygen desaturation on exertion | 3 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040282 - Frequent | | | 7 | | |