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

..Starting node
..Macular agenesis (HP:0033743)

Term ID:

33743

Name:

Macular agenesis

Synonym:

Definition:

A congenital defect characterized by lack of development of the macula.

Comments:

Reference:

HP:0033743

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033743	HP:0033743	Macular agenesis	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia	194
HP:0033743	HP:0033743	Macular agenesis	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia	177

Genes (2) :PAX6 WT1

Diseases (1) :OMIM:106210

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