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 eyelid morphology (HP:0000492)

Grandparent Node:
Periorbital edema (HP:0100539)

Parent Node:
Palpebral edema (HP:0100540)

..Starting node
..Blepharochalasis (HP:0010749)

Term ID:

10749

Name:

Blepharochalasis

Synonym:

Saggy upper eyelid skin

Definition:

Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.

Comments:

Reference:

HP:0010749

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lower eyelid edema (HP:0012568)

Upper eyelid edema (HP:0012724)

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:0010749	HP:0010749	Blepharochalasis	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0010749	HP:0010749	Blepharochalasis	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0010749	HP:0010749	Blepharochalasis	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0010749	HP:0010749	Blepharochalasis	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0010749	HP:0010749	Blepharochalasis	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0010749	HP:0010749	Blepharochalasis	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53

Genes (6) :ADAMTS2 CDH11 COL1A1 COL5A1 COL5A2 GSN

Diseases (4) :OMIM:225410 ORPHA:1299 ORPHA:287 ORPHA:85448

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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