Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Localized skin lesion (HP:0011355)

Parent Node:
Cutaneous cyst (HP:0025245)

..Starting node
..Epidermoid cyst (HP:0200040)

Term ID:

200040

Name:

Epidermoid cyst

Synonym:

Epidermal cyst; Epidermal inclusion cyst; Epidermoid cysts; Infundibular cyst; Keratin cyst; Sebaceous cyst; Skin cyst

Definition:

Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.

Comments:

Reference:

HP:0200040

Genes and Diseases:

Child Nodes:

........

Cyst of the eyelid (HP:0010604)

................... HP:0010605 Chalazion

........

Axillary epidermoid cyst (HP:0012540)

Sister Nodes:

Dermoid cyst (HP:0025247)

Eruptive vellus hair cyst (HP:0025248)

Trichilemmal cyst (HP:0025246)

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:0200040	HP:0200040	Epidermoid cyst	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0200040	HP:0200040	Epidermoid cyst	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0200040	HP:0200040	Epidermoid cyst	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0200040	HP:0200040	Epidermoid cyst	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0200040	HP:0200040	Epidermoid cyst	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional	3179
HP:0200040	HP:0200040	Epidermoid cyst	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040282 - Frequent	3179
HP:0200040	HP:0200040	Epidermoid cyst	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional	1003
HP:0200040	HP:0200040	Epidermoid cyst	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0200040	HP:0200040	Epidermoid cyst	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional
HP:0200040	HP:0200040	Epidermoid cyst	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0200040	HP:0200040	Epidermoid cyst	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	27
HP:0200040	HP:0200040	Epidermoid cyst	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	23
HP:0200040	HP:0200040	Epidermoid cyst	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0200040	HP:0200040	Epidermoid cyst	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	173
HP:0200040	HP:0200040	Epidermoid cyst	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	41
HP:0200040	HP:0200040	Epidermoid cyst	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	4
HP:0200040	HP:0200040	Epidermoid cyst	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0200040	HP:0200040	Epidermoid cyst	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	6
HP:0200040	HP:0200040	Epidermoid cyst	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0200040	HP:0200040	Epidermoid cyst	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0200040	HP:0200040	Epidermoid cyst	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0200040	HP:0012540	Axillary epidermoid cyst	1	CL E G H
HP:0200040	HP:0010604	Cyst of the eyelid	1	CL E G H
HP:0200040	HP:0010605	Chalazion	2	CL E G H

Genes (16) :ANTXR1 APC CDH1 CEP57 CTNND1 IFNG KRT16 KRT17 KRT5 KRT6A KRT6B POFUT1 POGLUT1 PSENEN TSC1 TSC2

Diseases (12) :OMIM:230740 OMIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:1997 OMIM:614114 ORPHA:805 ORPHA:2309 OMIM:167210 ORPHA:79145

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen