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)

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

..Starting node
..Hypoplasia of eyelid (HP:0430009)

Term ID:

430009

Name:

Hypoplasia of eyelid

Synonym:

Decreased size of eyelid; Hypoplasia of the eyelid; Hypoplastic eyelid; Short eyelid; Small eyelid; Underdevelopment of eyelid

Definition:

Developmental hypoplasia of the eyelid.

Comments:

Reference:

HP:0430009

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the lower eyelids (HP:0007697)

........

Hypoplasia of the upper eyelids (HP:0040032)

Sister Nodes:

Ablepharon (HP:0011224)

Cryptophthalmos (HP:0001126)

Eyelid coloboma (HP:0000625)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0430009	HP:0430009	Hypoplasia of eyelid	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0430009	HP:0430009	Hypoplasia of eyelid	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	7
HP:0430009	HP:0430009	Hypoplasia of eyelid	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0430009	HP:0040032	Hypoplasia of the upper eyelids	1	CL E G H
HP:0430009	HP:0007697	Hypoplasia of the lower eyelids	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS

Genes (3) :EIF5A TWIST2 ZPR1

Diseases (3) :OMIM:619376 OMIM:200110 OMIM:619321

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