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 lens morphology (HP:0000517)

Parent Node:
Cataract (HP:0000518)

..Starting node
..Juvenile cataract (HP:0001118)

Term ID:

1118

Name:

Juvenile cataract

Synonym:

Definition:

A type of cataract that is not apparent at birth but that arises in childhood or adolescence.

Comments:

Reference:

HP:0001118

Genes and Diseases:

Child Nodes:

........

Juvenile zonular cataracts (HP:0007713)

Sister Nodes:

Age-related cataract (HP:0011141)

Capsular cataract (HP:0100017)

Christmas tree cataract (HP:0025571)

Developmental cataract (HP:0000519)

Membranous cataract (HP:0010922)

obsolete Total cataract (HP:0010700)

Polar cataract (HP:0010696)

Presenile cataracts (HP:0007819)

Progressive cataract (HP:0007834)

Subcapsular cataract (HP:0000523)

Zonular cataract (HP:0010920)

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:0001118	HP:0001118	Juvenile cataract	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0001118	HP:0001118	Juvenile cataract	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040281 - Very frequent	2
HP:0001118	HP:0001118	Juvenile cataract	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0001118	HP:0001118	Juvenile cataract	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040281 - Very frequent	114
HP:0001118	HP:0001118	Juvenile cataract	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent	7
HP:0001118	HP:0001118	Juvenile cataract	0	LEMD2 CL E G H	221496	21244	OMIM:212500	CATARACT 46, JUVENILE-ONSET; CTRCT46		1
HP:0001118	HP:0001118	Juvenile cataract	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001118	HP:0001118	Juvenile cataract	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional	1
HP:0001118	HP:0001118	Juvenile cataract	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0001118	HP:0001118	Juvenile cataract	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040284 - Very rare	445
HP:0001118	HP:0001118	Juvenile cataract	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001118	HP:0001118	Juvenile cataract	0	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2	.	1

Genes (11) :ADNP ANAPC1 CYP27A1 FAR1 LEMD2 MECP2 NACC1 RDH11 RECQL4 SPTBN1 TGM3

Diseases (12) :ORPHA:404448 ORPHA:221008 OMIM:618625 ORPHA:909 ORPHA:438178 OMIM:212500 OMIM:300055 ORPHA:500545 ORPHA:436245 ORPHA:221016 OMIM:619475 OMIM:617251

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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