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:
Abnormal ocular adnexa morphology (HP:0030669)

Parent Node:
Abnormal eyelid morphology (HP:0000492)

..Starting node
..Dermatochalasis (HP:0010750)

Term ID:

10750

Name:

Dermatochalasis

Synonym:

Baggy eyes; Droopy eyelid skin; Extra eyelid skin; Eyelid dermatochalasia; Hooding of eyelids; Redundant eyelid skin

Definition:

Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.

Comments:

Reference:

HP:0010750

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal eyelash morphology (HP:0000499)

Abnormal levator palpebrae superioris morphology (HP:3000072)

Abnormality of the palpebral fissures (HP:0008050)

Accessory eyelid (HP:0430008)

Ankyloblepharon (HP:0009755)

Aplasia/Hypoplasia of the eyelid (HP:0011226)

Blepharitis (HP:0000498)

Blepharospasm (HP:0000643)

Ectropion (HP:0000656)

Entropion (HP:0000621)

Epiblepharon (HP:0011225)

Epicanthus (HP:0000286)

Erythema of the eyelids (HP:0040323)

Euryblepharon (HP:0012905)

Eyelid apraxia (HP:0000658)

Eyelid retraction (HP:0500043)

Heliotrope rash of eyelid (HP:0030845)

Hooded eyelid (HP:0030820)

Hyperpigmentation of eyelids (HP:0007406)

Lagophthalmos (HP:0030001)

Lipomas of eyelids (HP:0040164)

Microblepharia (HP:0430010)

Nodular changes affecting the eyelids (HP:0010732)

Palpebral edema (HP:0100540)

Palpebral thickening (HP:0030939)

Symblepharon (HP:0430007)

Telecanthus (HP:0000506)

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:0010750	HP:0010750	Dermatochalasis	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0010750	HP:0010750	Dermatochalasis	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0010750	HP:0010750	Dermatochalasis	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0010750	HP:0010750	Dermatochalasis	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	45
HP:0010750	HP:0010750	Dermatochalasis	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	63
HP:0010750	HP:0010750	Dermatochalasis	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0010750	HP:0010750	Dermatochalasis	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent
HP:0010750	HP:0010750	Dermatochalasis	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9

Genes (8) :COL1A1 COL5A1 COL5A2 EFEMP2 FBLN5 KNSTRN LTBP1 PIK3CD

Diseases (3) :ORPHA:287 ORPHA:90349 ORPHA:221139

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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