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:
Cataract (HP:0000518)

Parent Node:
Polar cataract (HP:0010696)

..Starting node
..Anterior polar cataract (HP:0001134)

Term ID:

1134

Name:

Anterior polar cataract

Synonym:

Polar cataract, anterior

Definition:

A polar cataract that affects the anterior pole of the lens.

Comments:

Reference:

HP:0001134

Genes and Diseases:

Child Nodes:

........

Anterior pyramidal cataract (HP:0010697)

Sister Nodes:

Posterior polar cataract (HP:0001115)

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:0001134	HP:0001134	Anterior polar cataract	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0001134	HP:0001134	Anterior polar cataract	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001134	HP:0001134	Anterior polar cataract	0	HSF4 CL E G H	3299	5227	OMIM:116800	Cataract, lamellar	.	38
HP:0001134	HP:0001134	Anterior polar cataract	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001134	HP:0010697	Anterior pyramidal cataract	1	CL E G H

Genes (4) :COL4A3 HS2ST1 HSF4 TAOK1

Diseases (4) :OMIM:104200 OMIM:619194 OMIM:116800 OMIM:619575

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