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:
Short digit (HP:0011927)

Parent Node:
Brachydactyly (HP:0001156)

..Starting node
..Unilateral brachydactyly (HP:0006008)

Term ID:

6008

Name:

Unilateral brachydactyly

Synonym:

Short digits on one side

Definition:

Comments:

Reference:

HP:0006008

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brachytelomesophalangy (HP:0005872)

Type A brachydactyly (HP:0009370)

Type B brachydactyly (HP:0005831)

Type C brachydactyly (HP:0009373)

Type D brachydactyly (HP:0005627)

Type E brachydactyly (HP:0005863)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006008	HP:0006008	Unilateral brachydactyly	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.