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:
Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Parent Node:
Aplasia/Hypoplasia of the optic tract (HP:0011000)

..Starting node
..Aplasia of the optic tract (HP:0010999)

Term ID:

10999

Name:

Aplasia of the optic tract

Synonym:

Absent optic tract

Definition:

Comments:

Reference:

HP:0010999

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the optic tract (HP:0007096)

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:0010999	HP:0010999	Aplasia of the optic tract	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	38

Genes (1) :BMP4

Diseases (1) :OMIM:607932

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