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 anterior eye segment morphology (HP:0004328)

Grandparent Node:
Abnormal uvea morphology (HP:0000553)

Parent Node:
Abnormality iris morphology (HP:0000525)

..Starting node
..Iris atrophy (HP:0001089)

Term ID:

1089

Name:

Iris atrophy

Synonym:

Iris degeneration

Definition:

Loss of iris tissue (atrophy)

Comments:

Reference:

HP:0001089

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal iris pigmentation (HP:0008034)

Abnormal iris vasculature (HP:0007905)

Abnormal pupil morphology (HP:0000615)

Aplasia/Hypoplasia of the iris (HP:0008053)

Iridodonesis (HP:0100693)

Iris coloboma (HP:0000612)

Iris cyst (HP:0011523)

Iris flocculi (HP:0500007)

Iris melanoma (HP:0011524)

Iris nevus (HP:0011525)

Iritis (HP:0001101)

Lisch nodules (HP:0009737)

Uveal ectropion (HP:0025358)

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:0001089	HP:0001089	Iris atrophy	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.	4
HP:0001089	HP:0001089	Iris atrophy	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0001089	HP:0001089	Iris atrophy	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0001089	HP:0001089	Iris atrophy	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0001089	HP:0001089	Iris atrophy	0	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1	HP:0040283 - Occasional	4
HP:0001089	HP:0001089	Iris atrophy	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362

Genes (6) :ASPH C1QTNF5 COQ2 LRP5 OVOL2 ZEB2

Diseases (6) :OMIM:601552 ORPHA:67042 OMIM:146500 OMIM:259770 OMIM:122000 ORPHA:261552

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