Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
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:0500165	Abnormal blood oxygen level	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
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	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: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	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:0500165	Abnormal blood oxygen level	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
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	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: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	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:0012418	Hypoxemia	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
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	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:0012416	Hypercapnia	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
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	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:0012418	Hypoxemia	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
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	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: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	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:0034038	Silent hypoxemia	3	CL E G H
HP:0012415	HP:0033367	Orthodeoxia	3	CL E G H
HP:0012415	HP:0034312	Nocturnal hypoxemia	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