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:
Eyelid coloboma (HP:0000625)

..Starting node
..Lower eyelid coloboma (HP:0000652)

Term ID:

652

Name:

Lower eyelid coloboma

Synonym:

Cleft lower eyelid; Coloboma of lower eyelid; Full thickness defect of the lower eyelid; Lower lid coloboma; Notched lower eyelid

Definition:

A short discontinuity of the margin of the lower eyelid.

Comments:

Reference:

HP:0000652

Genes and Diseases:

Child Nodes:

Sister Nodes:

Upper eyelid coloboma (HP:0000636)

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:0000652	HP:0000652	Lower eyelid coloboma	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0000652	HP:0000652	Lower eyelid coloboma	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000652	HP:0000652	Lower eyelid coloboma	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000652	HP:0000652	Lower eyelid coloboma	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0000652	HP:0000652	Lower eyelid coloboma	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000652	HP:0000652	Lower eyelid coloboma	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000652	HP:0000652	Lower eyelid coloboma	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000652	HP:0000652	Lower eyelid coloboma	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0000652	HP:0000652	Lower eyelid coloboma	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0000652	HP:0000652	Lower eyelid coloboma	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19

Genes (9) :EDNRA POLR1A POLR1B POLR1C POLR1D RIPK4 SF3B4 TCOF1 TXNL4A

Diseases (10) :OMIM:616367 OMIM:616462 OMIM:618939 OMIM:248390 OMIM:613717 OMIM:263650 OMIM:154400 ORPHA:245 OMIM:154500 OMIM:608572

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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