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 vertebral morphology (HP:0003468)

Parent Node:
Abnormal sacrum morphology (HP:0005107)

Parent Node:
Vertebral segmentation defect (HP:0003422)

..Starting node
..Sacral segmentation defect (HP:0008490)

Term ID:

8490

Name:

Sacral segmentation defect

Synonym:

Definition:

Comments:

Reference:

HP:0008490

Genes and Diseases:

Child Nodes:

........

Abnormal sacral segmentation (HP:0008468)

........

Hemisacrum (HP:0009790)

........

Bifid sacrum (HP:0009791)

Sister Nodes:

Cervical segmentation defect (HP:0004632)

Hemivertebrae (HP:0002937)

Vertebral fusion (HP:0002948)

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:0008490	HP:0008490	Sacral segmentation defect	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0008490	HP:0008490	Sacral segmentation defect	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0008490	HP:0008490	Sacral segmentation defect	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0008490	HP:0009791	Bifid sacrum	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0008490	HP:0009790	Hemisacrum	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0008490	HP:0008468	Abnormal sacral segmentation	1	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
HP:0008490	HP:0009790	Hemisacrum	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111

Genes (3) :MNX1 TAF1 VANGL1

Diseases (3) :OMIM:176450 ORPHA:480907 OMIM:600145

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