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:
Abnormality of the face (HP:0000271)

Parent Node:
Abnormality of skin pigmentation (HP:0001000)

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

..Starting node
..Periorbital hyperpigmentation (HP:0001106)

Term ID:

1106

Name:

Periorbital hyperpigmentation

Synonym:

Dark circles around the eyes; Dark circles under the eyes; Darkening around the eyes; Idiopathic cutaneous hyperchromia at the orbital region; Infraorbital pigmentation; Periorbital melanosis; Pigmentation around the eyes

Definition:

Increased pigmentation of the skin in the region surrounding the orbit of the eye.

Comments:

Reference:

HP:0001106

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal eyebrow morphology (HP:0000534)

Abnormal morphology of bony orbit of skull (HP:3000030)

Abnormality of the supraorbital ridges (HP:0100538)

Bitemporal forceps marks (HP:0011336)

Bitemporal hollowing (HP:0025386)

Infra-orbital crease (HP:0100876)

Infra-orbital fold (HP:0011232)

Orbital cyst (HP:0001144)

Periorbital ecchymosis with tarsal plate sparing (HP:0025553)

Periorbital edema (HP:0100539)

Periorbital fullness (HP:0000629)

Periorbital purpura (HP:0025552)

Periorbital wrinkles (HP:0000607)

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:0001106	HP:0001106	Periorbital hyperpigmentation	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0001106	HP:0001106	Periorbital hyperpigmentation	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0001106	HP:0001106	Periorbital hyperpigmentation	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0001106	HP:0001106	Periorbital hyperpigmentation	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional

Genes (4) :EDA EDAR EDARADD KIF15

Diseases (3) :OMIM:305100 OMIM:224900 ORPHA:261323

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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