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)

Grandparent Node:
Abnormal ocular adnexa morphology (HP:0030669)

Grandparent Node:
Abnormality of the periorbital region (HP:0000606)

Parent Node:
Abnormal eyebrow morphology (HP:0000534)

..Starting node
..Long eyebrows (HP:0004523)

Term ID:

4523

Name:

Long eyebrows

Synonym:

Elongated eyebrow; Increased horizontal length of eyebrow; Increased transverse length of eyebrow; Long eyebrows

Definition:

Increased length of the hairs of the eyebrows.

Comments:

Reference:

HP:0004523

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal location of the eyebrow (HP:0040296)

Aplasia/Hypoplasia of the eyebrow (HP:0100840)

Broad eyebrow (HP:0011229)

Brow ptosis (HP:0031623)

Double eyebrow (HP:0010730)

Highly arched eyebrow (HP:0002553)

Horizontal eyebrow (HP:0011228)

Laterally curved eyebrow (HP:0007733)

Laterally extended eyebrow (HP:0011230)

Medial flaring of the eyebrow (HP:0010747)

Synophrys (HP:0000664)

Thick eyebrow (HP:0000574)

White eyebrow (HP:0002226)

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:0004523	HP:0004523	Long eyebrows	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0004523	HP:0004523	Long eyebrows	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0004523	HP:0004523	Long eyebrows	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6	.	102
HP:0004523	HP:0004523	Long eyebrows	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.	103
HP:0004523	HP:0004523	Long eyebrows	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4

Genes (4) :MAN1B1 NRAS PNPLA6 SPEN

Diseases (5) :ORPHA:397941 OMIM:614202 OMIM:613224 OMIM:275400 OMIM:619312

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