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
..Abnormal sacral segmentation (HP:0008468)

Term ID:

8468

Name:

Abnormal sacral segmentation

Synonym:

Definition:

An abnormality related to a defect of vertebral separation of sacral vertebrae during development.

Comments:

Reference:

HP:0008468

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bifid sacrum (HP:0009791)

Hemisacrum (HP:0009790)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008468	HP:0008468	Abnormal sacral segmentation	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent	21

Genes (1) :TAF1

Diseases (1) :ORPHA:480907

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