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:
Localized skin lesion (HP:0011355)

Parent Node:
Cutaneous cyst (HP:0025245)

..Starting node
..Dermoid cyst (HP:0025247)

Term ID:

25247

Name:

Dermoid cyst

Synonym:

Definition:

A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts arenslowly progressive and can grow to a size of 1 to 4 cm.

Comments:

Reference:

HP:0025247

Genes and Diseases:

Child Nodes:

Sister Nodes:

Epidermoid cyst (HP:0200040)

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:0025247	HP:0025247	Dermoid cyst	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0025247	HP:0025247	Dermoid cyst	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0025247	HP:0025247	Dermoid cyst	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0025247	HP:0025247	Dermoid cyst	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0025247	HP:0025247	Dermoid cyst	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0025247	HP:0025247	Dermoid cyst	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040284 - Very rare	5

Genes (6) :ALX3 MSX2 SYT1 TFAP2A VANGL1 ZSWIM6

Diseases (6) :ORPHA:391474 OMIM:168550 ORPHA:522077 OMIM:113620 OMIM:600145 ORPHA:1827

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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