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

Term ID:

3329

Name:

Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes

Synonym:

Definition:

Comments:

Reference:

HP:0003329

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pili canaliculi (HP:0002235)

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:0003329	HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome	.	72

Genes (1) :BCS1L

Diseases (1) :OMIM:262000

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