Human Phenotype Ontology

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 the periorbital region (HP:0000606)

..Starting node
..Infra-orbital fold (HP:0011232)

Term ID:

11232

Name:

Infra-orbital fold

Synonym:

Dennie-Morgan fold; Infraorbital fold

Definition:

Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.

Comments:

Reference:

HP:0011232

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)

Orbital cyst (HP:0001144)

Periorbital ecchymosis with tarsal plate sparing (HP:0025553)

Periorbital edema (HP:0100539)

Periorbital fullness (HP:0000629)

Periorbital hyperpigmentation (HP:0001106)

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:0011232	HP:0011232	Infra-orbital fold	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011232	HP:0011232	Infra-orbital fold	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0011232	HP:0011232	Infra-orbital fold	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2

Genes (3) :HS2ST1 RIN2 YARS1

Diseases (3) :OMIM:619194 ORPHA:217335 OMIM:619418

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