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
..Iridodonesis (HP:0100693)

Term ID:

100693

Name:

Iridodonesis

Synonym:

Definition:

Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.

Comments:

Reference:

HP:0100693

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)

Iris atrophy (HP:0001089)

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:0100693	HP:0100693	Iridodonesis	0	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4	.	214
HP:0100693	HP:0100693	Iridodonesis	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA	.	9
HP:0100693	HP:0100693	Iridodonesis	0	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0100693	HP:0100693	Iridodonesis	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0100693	HP:0100693	Iridodonesis	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0100693	HP:0100693	Iridodonesis	0	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	HP:0040283 - Occasional	123

Genes (5) :ADAMTS17 CHRDL1 CPAMD8 FBN1 LTBP2

Diseases (6) :OMIM:613195 OMIM:309300 OMIM:617319 ORPHA:284979 OMIM:608328 OMIM:251750

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