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 sacrum morphology (HP:0005107)

Grandparent Node:
Vertebral segmentation defect (HP:0003422)

Parent Node:
Sacral segmentation defect (HP:0008490)

..Starting node
..Bifid sacrum (HP:0009791)

Term ID:

9791

Name:

Bifid sacrum

Synonym:

Definition:

Presence of a bifid sacral bone.

Comments:

Reference:

HP:0009791

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal sacral segmentation (HP:0008468)

Hemisacrum (HP:0009790)

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:0009791	HP:0009791	Bifid sacrum	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	17

Genes (1) :MNX1

Diseases (1) :OMIM:176450

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