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
..Laterally extended eyebrow (HP:0011230)

Term ID:

11230

Name:

Laterally extended eyebrow

Synonym:

Increased lateral length of eyebrow; Laterally elongated eyebrow; Laterally extended eyebrows

Definition:

An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.

Comments:

Reference:

HP:0011230

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)

Long eyebrows (HP:0004523)

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:0011230	HP:0011230	Laterally extended eyebrow	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011230	HP:0011230	Laterally extended eyebrow	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0011230	HP:0011230	Laterally extended eyebrow	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0011230	HP:0011230	Laterally extended eyebrow	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91

Genes (4) :MAB21L1 MEIS2 NUP188 SMC3

Diseases (4) :OMIM:618479 OMIM:600987 OMIM:618804 OMIM:610759

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