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:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormal sacrum morphology (HP:0005107)

..Starting node
..Horizontal sacrum (HP:0003440)

Term ID:

3440

Name:

Horizontal sacrum

Synonym:

Definition:

Comments:

Reference:

HP:0003440

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal ossification of the sacrum (HP:0025370)

Abnormal sacroiliac joint morphology (HP:0100781)

Aplasia/Hypoplasia of the sacrum (HP:0008517)

Dysplastic sacrum (HP:0008455)

Sacral meningocele (HP:0005765)

Sacral segmentation defect (HP:0008490)

Sacrococcygeal pilonidal abnormality (HP:0010767)

Sacrococcygeal teratoma (HP:0030736)

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:0003440	HP:0003440	Horizontal sacrum	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0003440	HP:0003440	Horizontal sacrum	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0003440	HP:0003440	Horizontal sacrum	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166

Genes (3) :FLNB LBR SLC26A2

Diseases (3) :OMIM:108721 OMIM:215140 OMIM:256050

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