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 posterior segment imaging (HP:0030601)

Parent Node:
Abnormal fundus autofluorescence imaging (HP:0030602)

..Starting node
..Irregular central macular autofluorescence (HP:0030630)

Term ID:

30630

Name:

Irregular central macular autofluorescence

Synonym:

Definition:

Comments:

Reference:

HP:0030630

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperautofluorescent retinal lesion (HP:0025158)

Hypoautofluorescent retinal lesion (HP:0025159)

Perifoveal ring of hyperautofluorescence (HP:0030629)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030630	HP:0030630	Irregular central macular autofluorescence	0	CL E G H

Genes (0) :

Diseases (0) :

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