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:
Abnormality of fluid regulation (HP:0011032)

Parent Node:
Abnormal larynx morphology (HP:0025423)

Parent Node:
Edema (HP:0000969)

..Starting node
..Laryngeal edema (HP:0012027)

Term ID:

12027

Name:

Laryngeal edema

Synonym:

Laryngeal oedema

Definition:

An abnormal accumulation of fluid and swelling in the tissues of the larynx.

Comments:

Reference:

HP:0012027

Genes and Diseases:

Child Nodes:

Sister Nodes:

Angioedema (HP:0100665)

Cerebral edema (HP:0002181)

Corneal stromal edema (HP:0012040)

Edema of the dorsum of feet (HP:0012098)

Edema of the dorsum of hands (HP:0007514)

Edema of the upper limbs (HP:0010742)

Facial edema (HP:0000282)

Generalized edema (HP:0007430)

Genital edema (HP:0031188)

Hydrops fetalis (HP:0001789)

Hyperkeratosis over edematous areas (HP:0007448)

Hypoproteinemic edema (HP:0007609)

Increased nuchal translucency (HP:0010880)

Intestinal edema (HP:0005225)

Joint swelling (HP:0001386)

Lymphedema (HP:0001004)

Macular edema (HP:0040049)

Muscular edema (HP:0100748)

Peau d'orange (HP:0025533)

Pedal edema (HP:0010741)

Peripheral edema (HP:0012398)

Pharyngeal edema (HP:0011855)

Pleural effusion (HP:0002202)

Pulmonary edema (HP:0100598)

Tongue edema (HP:0040315)

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:0012027	HP:0012027	Laryngeal edema	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional	3
HP:0012027	HP:0012027	Laryngeal edema	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012027	HP:0012027	Laryngeal edema	0	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4		11
HP:0012027	HP:0012027	Laryngeal edema	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0012027	HP:0012027	Laryngeal edema	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent	64
HP:0012027	HP:0012027	Laryngeal edema	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4

Genes (5) :EPHB4 HS3ST6 PLG SERPING1 XPNPEP2

Diseases (6) :ORPHA:90186 OMIM:619367 OMIM:619360 OMIM:106100 ORPHA:100050 ORPHA:100057

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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