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:
Abnormality iris morphology (HP:0000525)

Parent Node:
Abnormal iris pigmentation (HP:0008034)

..Starting node
..Iris transillumination defect (HP:0012805)

Term ID:

12805

Name:

Iris transillumination defect

Synonym:

Definition:

Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.

Comments:

Reference:

HP:0012805

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetry of iris pigmentation (HP:0200064)

Blue irides (HP:0000635)

Brushfield spots (HP:0001088)

Iris hypopigmentation (HP:0007730)

Iris pigment dispersion (HP:0012634)

Stellate iris (HP:0012775)

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:0012805	HP:0012805	Iris transillumination defect	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0012805	HP:0012805	Iris transillumination defect	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0012805	HP:0012805	Iris transillumination defect	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0012805	HP:0012805	Iris transillumination defect	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0012805	HP:0012805	Iris transillumination defect	0	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0012805	HP:0012805	Iris transillumination defect	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0012805	HP:0012805	Iris transillumination defect	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0012805	HP:0012805	Iris transillumination defect	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0012805	HP:0012805	Iris transillumination defect	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121

Genes (9) :BLOC1S5 C1QTNF5 CHRDL1 COL18A1 CPAMD8 DCT HPS5 MC1R OCA2

Diseases (8) :OMIM:619172 ORPHA:67042 OMIM:309300 OMIM:267750 OMIM:617319 OMIM:619165 OMIM:614074 ORPHA:79432

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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