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:
Punctate cataract (HP:0007648)

Parent Node:
Nuclear punctate cataract (HP:0010925)

Parent Node:
Pulverulent cataract (HP:0010693)

..Starting node
..Nuclear pulverulent cataract (HP:0010698)

Term ID:

10698

Name:

Nuclear pulverulent cataract

Synonym:

cataracta pulverulenta centralis; Central pulverulent cataract; Coppock-like cataract; Pulverulent nuclear cataract

Definition:

A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.

Comments:

Reference:

HP:0010698

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cortical pulverulent cataract (HP:0007780)

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