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:
Punctate cataract (HP:0007648)

..Starting node
..Pulverulent cataract (HP:0010693)

Term ID:

10693

Name:

Pulverulent cataract

Synonym:

Pulverulent cataract

Definition:

A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.

Comments:

Reference:

HP:0010693

Genes and Diseases:

Child Nodes:

........

Cortical pulverulent cataract (HP:0007780)

........

Nuclear pulverulent cataract (HP:0010698)

Sister Nodes:

Cerulean cataract (HP:0007976)

Nuclear punctate cataract (HP:0010925)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010693	HP:0010693	Pulverulent cataract	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0010693	HP:0010693	Pulverulent cataract	0	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.		18
HP:0010693	HP:0010693	Pulverulent cataract	0	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types			13
HP:0010693	HP:0010693	Pulverulent cataract	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0010693	HP:0010693	Pulverulent cataract	0	FTL CL E G H	2512	3999	OMIM:600886	Hyperferritinemia with or without cataract	HP:0040283 - Occasional		33
HP:0010693	HP:0010693	Pulverulent cataract	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0010693	HP:0010693	Pulverulent cataract	0	GJA8 CL E G H	2703	4281	OMIM:116200	Cataract 1, multiple types	.		34
HP:0010693	HP:0010693	Pulverulent cataract	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0010693	HP:0010693	Pulverulent cataract	0	HSF4 CL E G H	3299	5227	OMIM:116800	Cataract, lamellar	.		38
HP:0010693	HP:0010693	Pulverulent cataract	0	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0010693	HP:0010693	Pulverulent cataract	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types			21
HP:0010693	HP:0010693	Pulverulent cataract	0	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types	.		3
HP:0010693	HP:0010698	Nuclear pulverulent cataract	1	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types	.		13
HP:0010693	HP:0010698	Nuclear pulverulent cataract	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0010693	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:0010693	HP:0010698	Nuclear pulverulent cataract	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0010693	HP:0007780	Cortical pulverulent cataract	1	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0010693	HP:0007780	Cortical pulverulent cataract	1	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types	.	HP:0003621 - Juvenile onset	21

Genes (11) :BEST1 CRYBB1 CRYBB2 CRYGC FTL GJA5 GJA8 HSF4 LIM2 MAF VIM

Diseases (11) :OMIM:193220 OMIM:611544 OMIM:601547 OMIM:604307 OMIM:600886 OMIM:612474 OMIM:116200 OMIM:116800 OMIM:615277 OMIM:610202 OMIM:116300

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

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