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 chamber morphology (HP:0000593)

Parent Node:
Abnormal trabecular meshwork morphology (HP:0012630)

..Starting node
..Pigment deposition in the trabecular meshwork (HP:0012631)

Term ID:

12631

Name:

Pigment deposition in the trabecular meshwork

Synonym:

Definition:

Accumulation of abnormal amounts of pigment within the trabecular meshwork.

Comments:

Reference:

HP:0012631

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0012631	HP:0012631	Pigment deposition in the trabecular meshwork	0	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.	3

Genes (1) :LOXL1

Diseases (1) :OMIM:177650

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