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:
Dynein arm defect of respiratory motile cilia (HP:0012255)

Parent Node:
Absent/shortened dynein arms (HP:0200106)

..Starting node
..Shortened outer dynein arms (HP:0200108)

Term ID:

200108

Name:

Shortened outer dynein arms

Synonym:

Definition:

Comments:

Reference:

HP:0200108

Genes and Diseases:

Child Nodes:

........

Absent/shortened outer dynein arms (HP:0200109)

Sister Nodes:

Absent inner dynein arms (HP:0012257)

Absent outer dynein arms (HP:0012256)

Shortened inner dynein arms (HP:0200107)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200108	HP:0200108	Shortened outer dynein arms	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.