Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Visual impairment (HP:0000505)

Parent Node:
Blindness (HP:0000618)

..Starting node
..Congenital blindness (HP:0007875)

Term ID:

7875

Name:

Congenital blindness

Synonym:

Blindness present at birth; Congenital amaurosis

Definition:

Blindness with onset at birth.

Comments:

Reference:

HP:0007875

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007875	HP:0007875	Congenital blindness	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent		4
HP:0007875	HP:0007875	Congenital blindness	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0007875	HP:0007875	Congenital blindness	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0007875	HP:0007875	Congenital blindness	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0007875	HP:0007875	Congenital blindness	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent		125
HP:0007875	HP:0007875	Congenital blindness	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040283 - Occasional		2
HP:0007875	HP:0007875	Congenital blindness	0	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12	.	HP:0003577 - Congenital onset	95
HP:0007875	HP:0007875	Congenital blindness	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0007875	HP:0007875	Congenital blindness	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040283 - Occasional		9

Genes (8) :ATIC CEP290 LRAT LRP5 NSMCE2 RD3 SARDH XRCC4

Diseases (8) :ORPHA:250977 OMIM:608688 OMIM:610188 OMIM:613341 ORPHA:2788 ORPHA:436182 OMIM:610612 ORPHA:3129

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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