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:
Aplasia/Hypoplasia of the eyelid (HP:0011226)

Parent Node:
Hypoplasia of eyelid (HP:0430009)

..Starting node
..Hypoplasia of the lower eyelids (HP:0007697)

Term ID:

7697

Name:

Hypoplasia of the lower eyelids

Synonym:

Decreased size of lower eyelid; Hypotrophic lower eyelid; Short lower eyelid; Small lower eyelid; Underdevelopment of lower eyelid

Definition:

Underdevelopment of the lower eyelid.

Comments:

Reference:

HP:0007697

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the upper eyelids (HP:0040032)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007697	HP:0007697	Hypoplasia of the lower eyelids	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS

Genes (1) :EIF5A

Diseases (1) :OMIM:619376

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