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 hair morphology (HP:0001595)

Parent Node:
Abnormal hairshaft morphology (HP:0003328)

..Starting node
..Pili canaliculi (HP:0002235)

Term ID:

2235

Name:

Pili canaliculi

Synonym:

Definition:

Uncombable hair.

Comments:

Reference:

HP:0002235

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Pili torti (HP:0003777)

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:0002235	HP:0002235	Pili canaliculi	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040281 - Very frequent	121
HP:0002235	HP:0002235	Pili canaliculi	0	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1		3
HP:0002235	HP:0002235	Pili canaliculi	0	TCHH CL E G H	7062	11791	OMIM:617252	Uncombable hair syndrome 3	.	1
HP:0002235	HP:0002235	Pili canaliculi	0	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2	.	1
HP:0002235	HP:0002235	Pili canaliculi	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140

Genes (5) :GAN PADI3 TCHH TGM3 TP63

Diseases (5) :ORPHA:643 OMIM:191480 OMIM:617252 OMIM:617251 OMIM:129400

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