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:
Abnormality of the neck (HP:0000464)

Parent Node:
Branchial anomaly (HP:0009794)

..Starting node
..Branchial cyst (HP:0009796)

Term ID:

9796

Name:

Branchial cyst

Synonym:

Branchial cleft cyst; Branchial cysts

Definition:

A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.

Comments:

Reference:

HP:0009796

Genes and Diseases:

Child Nodes:

Sister Nodes:

Branchial fistula (HP:0009795)

Branchial sinus (HP:0100272)

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:0009796	HP:0009796	Branchial cyst	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0009796	HP:0009796	Branchial cyst	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0009796	HP:0009796	Branchial cyst	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0009796	HP:0009796	Branchial cyst	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0009796	HP:0009796	Branchial cyst	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0009796	HP:0009796	Branchial cyst	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3	.	50
HP:0009796	HP:0009796	Branchial cyst	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0009796	HP:0009796	Branchial cyst	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10

Genes (5) :EYA1 PUF60 RPL10 SIX1 SIX5

Diseases (5) :ORPHA:107 OMIM:113650 ORPHA:508488 ORPHA:435938 OMIM:608389

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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