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:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormal hairshaft morphology (HP:0003328)

..Starting node
..Pili torti (HP:0003777)

Term ID:

3777

Name:

Pili torti

Synonym:

Flattened and twisted hair

Definition:

Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.

Comments:

Reference:

HP:0003777

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes (HP:0003329)

Pili canaliculi (HP:0002235)

Tiger tail banding (HP:0045055)

Trichorrhexis nodosa (HP:0009886)

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:0003777	HP:0003777	Pili torti	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.	72
HP:0003777	HP:0003777	Pili torti	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040282 - Frequent	87
HP:0003777	HP:0003777	Pili torti	0	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy		87
HP:0003777	HP:0003777	Pili torti	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6	HP:0040283 - Occasional	63
HP:0003777	HP:0003777	Pili torti	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0003777	HP:0003777	Pili torti	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0003777	HP:0003777	Pili torti	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2
HP:0003777	HP:0003777	Pili torti	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0003777	HP:0003777	Pili torti	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0003777	HP:0003777	Pili torti	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0003777	HP:0003777	Pili torti	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	169
HP:0003777	HP:0003777	Pili torti	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	98
HP:0003777	HP:0003777	Pili torti	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	.	4
HP:0003777	HP:0003777	Pili torti	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310

Genes (13) :BCS1L CDH3 DSG4 ERCC2 HEPHL1 KRT85 LMNA NECTIN1 NECTIN4 PEX1 PEX6 ST14 WRN

Diseases (13) :OMIM:262000 ORPHA:1573 OMIM:601553 OMIM:607903 OMIM:601675 OMIM:261990 OMIM:602032 ORPHA:79474 ORPHA:3253 OMIM:613573 ORPHA:3220 OMIM:602400 ORPHA:902

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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