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
..Ablepharon (HP:0011224)

Term ID:

11224

Name:

Ablepharon

Synonym:

Ablepharon of eyelid; Absent eyelids; Agenesis of eyelids; Aplasia of the eyelids; Missing eyelids

Definition:

Absent eyelids.

Comments:

Reference:

HP:0011224

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cryptophthalmos (HP:0001126)

Eyelid coloboma (HP:0000625)

Hypoplasia of eyelid (HP:0430009)

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:0011224	HP:0011224	Ablepharon	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0011224	HP:0011224	Ablepharon	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0011224	HP:0011224	Ablepharon	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0011224	HP:0011224	Ablepharon	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011224	HP:0011224	Ablepharon	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0011224	HP:0011224	Ablepharon	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0011224	HP:0011224	Ablepharon	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040283 - Occasional	7

Genes (5) :PHGDH POLR1A PSAT1 RIPK4 TWIST2

Diseases (7) :OMIM:256520 OMIM:616462 OMIM:616038 OMIM:263650 ORPHA:920 OMIM:200110 ORPHA:1231

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