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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the thoracic cavity (HP:0045027)

..Starting node
..Abnormal mediastinum morphology (HP:0045026)

Term ID:

45026

Name:

Abnormal mediastinum morphology

Synonym:

Abnormality of the mediastinum

Definition:

Any structural anomaly of the central compartment of the thoracic cavity.

Comments:

Reference:

HP:0045026

Genes and Diseases:

Child Nodes:

........

Pneumomediastinum (HP:0025421)

........

Mediastinal lymphadenopathy (HP:0100721)

Sister Nodes:

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:0045026	HP:0045026	Abnormal mediastinum morphology	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma		18
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma		1
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma		1
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease		27
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease		111
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma		184
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040284 - Very rare	37
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma		2
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma		7
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma		7
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma		6
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease		13
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease		67
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease		37
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent	80
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0045026	HP:0045026	Abnormal mediastinum morphology	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor		177
HP:0045026	HP:0034502	Narrow mediastinum	1	CL E G H
HP:0045026	HP:0034501	Widened mediastinum	1	CL E G H
HP:0045026	HP:0025421	Pneumomediastinum	1	CL E G H
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	18
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	1
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	1
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	184
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040283 - Occasional	1
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	2
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	7
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	7
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	6
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0045026	HP:0100721	Mediastinal lymphadenopathy	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent	177

Genes (46) :AKT1 APOE BAP1 BCL10 BCL2 BCL6 BIRC3 BRD4 BTNL2 CYBA CYBB CYBC1 EIF2AK4 EWSR1 FOXP1 GLMN HLA-B HLA-DPB1 HLA-DRB1 IGH IRF4 MAGT1 MALT1 NAB2 NCF1 NCF2 NCF4 NF2 NUTM1 P4HA2 PDGFB PIK3CA PIK3CG PORCN PRKCD PTPN22 RASGRP1 RHBDF2 SMARCB1 SMARCE1 SMO STAT6 SUFU TERT TRAF7 WT1

Diseases (23) :ORPHA:2495 ORPHA:158029 ORPHA:52417 ORPHA:545 ORPHA:443167 OMIM:612387 ORPHA:379 ORPHA:199241 OMIM:234810 ORPHA:83469 ORPHA:83454 ORPHA:397 ORPHA:133 OMIM:181000 ORPHA:3452 OMIM:300853 ORPHA:2126 OMIM:619802 ORPHA:2092 OMIM:615559 OMIM:618534 ORPHA:2198 OMIM:614742

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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