Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal respiratory system physiology (HP:0002795)

Parent Node:
Airway obstruction (HP:0006536)

..Starting node
..Chronic pulmonary obstruction (HP:0006510)

Term ID:

6510

Name:

Chronic pulmonary obstruction

Synonym:

Chronic obstructive pulmonary disease; COPD

Definition:

An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.

Comments:

Reference:

HP:0006510

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Chronic obstructive airway disease from birth (HP:0006541)

Reduced FEV1/FVC ratio (HP:0030877)

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:0006510	HP:0006510	Chronic pulmonary obstruction	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional	291
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	HMOX1 CL E G H	3162	5013	OMIM:606963	Pulmonary disease, chronic obstructive	.	3
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	MMP1 CL E G H	4312	7155	OMIM:606963	Pulmonary disease, chronic obstructive	.	6
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	MPEG1 CL E G H	219972	29619	OMIM:619223	IMMUNODEFICIENCY 77; IMD77
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency	.	131
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0006510	HP:0006510	Chronic pulmonary obstruction	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6

Genes (38) :ALMS1 ARVCF BLM CARMIL2 COMT CTLA4 CYBA CYBB CYBC1 DNAAF4 GLA GP1BB HIRA HLA-DPA1 HLA-DPB1 HMOX1 JMJD1C MCIDAS MMP1 MPEG1 MYH7 NCF1 NCF2 NCF4 NFKB1 PRTN3 PTPN22 RAC2 RREB1 RSPH3 RSPH9 SEC24C SERPINA1 TBX1 THSD4 UFD1 WAS WIPF1

Diseases (20) :ORPHA:64 ORPHA:567 ORPHA:125 OMIM:618131 ORPHA:900 ORPHA:379 OMIM:615482 ORPHA:324 OMIM:606963 OMIM:618695 OMIM:619223 ORPHA:437572 OMIM:616576 OMIM:618986 OMIM:616481 OMIM:612650 OMIM:613490 OMIM:188400 OMIM:619825 ORPHA:906

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

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