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 the periorbital region (HP:0000606)

..Starting node
..Orbital cyst (HP:0001144)

Term ID:

1144

Name:

Orbital cyst

Synonym:

Cyst of eye socket; Orbital cysts

Definition:

Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).

Comments:

Reference:

HP:0001144

Genes and Diseases:

Child Nodes:

........

Periorbital dermoid cyst (HP:0030668)

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)

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:0001144	HP:0001144	Orbital cyst	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0001144	HP:0001144	Orbital cyst	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0001144	HP:0001144	Orbital cyst	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0001144	HP:0001144	Orbital cyst	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0001144	HP:0001144	Orbital cyst	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0001144	HP:0001144	Orbital cyst	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0001144	HP:0030668	Periorbital dermoid cyst	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3

Genes (6) :BMP4 PAX1 PAX2 PTCH1 PTCH2 SUFU

Diseases (4) :OMIM:607932 OMIM:615560 OMIM:120330 OMIM:109400

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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