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:
Zonular cataract (HP:0010920)

Parent Node:
Nuclear cataract (HP:0100018)

Parent Node:
Punctate cataract (HP:0007648)

..Starting node
..Nuclear punctate cataract (HP:0010925)

Term ID:

10925

Name:

Nuclear punctate cataract

Synonym:

Definition:

Comments:

Reference:

HP:0010925

Genes and Diseases:

Child Nodes:

........

Nuclear pulverulent cataract (HP:0010698)

Sister Nodes:

Cerulean cataract (HP:0007976)

Pulverulent cataract (HP:0010693)

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:0010925	HP:0010925	Nuclear punctate cataract	0	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types		13
HP:0010925	HP:0010925	Nuclear punctate cataract	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types		11
HP:0010925	HP:0010925	Nuclear punctate cataract	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010925	HP:0010925	Nuclear punctate cataract	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0010925	HP:0010698	Nuclear pulverulent cataract	1	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types	.	13
HP:0010925	HP:0010698	Nuclear pulverulent cataract	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types		11
HP:0010925	HP:0010698	Nuclear pulverulent cataract	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010925	HP:0010698	Nuclear pulverulent cataract	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34

Genes (4) :CRYBB2 CRYGC GJA5 GJA8

Diseases (3) :OMIM:601547 OMIM:604307 OMIM:612474

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