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:
Abnormal sacrum morphology (HP:0005107)

Parent Node:
Sacrococcygeal pilonidal abnormality (HP:0010767)

..Starting node
..Pilonidal sinus (HP:0010769)

Term ID:

10769

Name:

Pilonidal sinus

Synonym:

Pilonidal cyst

Definition:

A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.

Comments:

Reference:

HP:0010769

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pilonidal abscess (HP:0010771)

Pilonidal fistula (HP:0010770)

Sacral dimple (HP:0000960)

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:0010769	HP:0010769	Pilonidal sinus	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0010769	HP:0010769	Pilonidal sinus	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0010769	HP:0010769	Pilonidal sinus	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13

Genes (3) :GNS TBX1 WNT7A

Diseases (3) :OMIM:252940 OMIM:188400 OMIM:276820

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