Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 lung morphology (HP:0002088)

Parent Node:
Pneumothorax (HP:0002107)

..Starting node
..Spontaneous pneumothorax (HP:0002108)

Term ID:

2108

Name:

Spontaneous pneumothorax

Synonym:

Spontaneous collapsed lung

Definition:

Pneumothorax occurring without traumatic injury to the chest or lung.

Comments:

Reference:

HP:0002108

Genes and Diseases:

Child Nodes:

........

Spontaneous neonatal pneumothorax (HP:0004876)

Sister Nodes:

Multiple bilateral pneumothoraces (HP:0005939)

Repeated pneumothoraces (HP:0006522)

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:0002108	HP:0002108	Spontaneous pneumothorax	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	4
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	FLCN CL E G H	201163	27310	OMIM:173600	Pneumothorax, primary spontaneous	.	332
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	563
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002108	HP:0002108	Spontaneous pneumothorax	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0002108	HP:0004876	Spontaneous neonatal pneumothorax	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0002108	HP:0004876	Spontaneous neonatal pneumothorax	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040283 - Occasional	51

Genes (10) :ADAMTS2 CAV1 COL3A1 DZIP1L FLCN PKHD1 SFTPB SFTPC TGFBR2 THSD4

Diseases (10) :OMIM:225410 OMIM:606721 OMIM:130050 ORPHA:731 OMIM:135150 OMIM:173600 ORPHA:217563 OMIM:610913 OMIM:610168 OMIM:619825

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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