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:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormal uvea morphology (HP:0000553)

..Starting node
..Abnormal ciliary body morphology (HP:0012776)

Term ID:

12776

Name:

Abnormal ciliary body morphology

Synonym:

Abnormality of the ciliary body

Definition:

A structural anomaly of the ciliary body.

Comments:

Reference:

HP:0012776

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the ciliary body (HP:0007774)

........

Ciliary body melanoma (HP:0012055)

Sister Nodes:

Abnormal choroid morphology (HP:0000610)

Abnormality iris morphology (HP:0000525)

Aplasia/Hypoplasia affecting the uvea (HP:0008055)

Uveitis (HP:0000554)

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:0012776	HP:0012776	Abnormal ciliary body morphology	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma		184
HP:0012776	HP:0012776	Abnormal ciliary body morphology	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma		1
HP:0012776	HP:0012776	Abnormal ciliary body morphology	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma		16
HP:0012776	HP:0012776	Abnormal ciliary body morphology	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma		7
HP:0012776	HP:0012776	Abnormal ciliary body morphology	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0012776	HP:0012776	Abnormal ciliary body morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma		19
HP:0012776	HP:0012055	Ciliary body melanoma	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	184
HP:0012776	HP:0012055	Ciliary body melanoma	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	1
HP:0012776	HP:0012055	Ciliary body melanoma	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	16
HP:0012776	HP:0012055	Ciliary body melanoma	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	7
HP:0012776	HP:0007774	Hypoplasia of the ciliary body	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92
HP:0012776	HP:0012055	Ciliary body melanoma	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	19

Genes (6) :BAP1 CYSLTR2 GNA11 GNAQ LAMB2 SF3B1

Diseases (2) :ORPHA:39044 OMIM:609049

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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