Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
Aplasia/Hypoplasia involving the vertebral column (HP:0008518)

Parent Node:
Aplasia/Hypoplasia of the sacrum (HP:0008517)

..Starting node
..Absence of the sacrum (HP:0010305)

Term ID:

10305

Name:

Absence of the sacrum

Synonym:

Absent sacrum; Sacral agenesis; Sacrococcygeal agenesis

Definition:

Absence (aplasia) of the sacrum.

Comments:

Reference:

HP:0010305

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent/hypoplastic coccyx (HP:0008436)

Hypoplastic sacrum (HP:0004590)

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:0010305	HP:0010305	Absence of the sacrum	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0010305	HP:0010305	Absence of the sacrum	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0010305	HP:0010305	Absence of the sacrum	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0010305	HP:0010305	Absence of the sacrum	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0010305	HP:0010305	Absence of the sacrum	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0010305	HP:0010305	Absence of the sacrum	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0010305	HP:0010305	Absence of the sacrum	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0010305	HP:0010305	Absence of the sacrum	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0010305	HP:0010305	Absence of the sacrum	0	TBXT CL E G H	6862	11515	OMIM:615709	Sacral agenesis with vertebral anomalies	.
HP:0010305	HP:0010305	Absence of the sacrum	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0010305	HP:0010305	Absence of the sacrum	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0010305	HP:0010305	Absence of the sacrum	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0010305	HP:0010305	Absence of the sacrum	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39

Genes (11) :CCL2 FANCB FUZ HAAO MNX1 NODAL PTH1R TBXT VANGL1 VANGL2 ZIC3

Diseases (9) :OMIM:182940 ORPHA:3412 OMIM:617660 OMIM:176450 OMIM:270100 ORPHA:79106 OMIM:615709 OMIM:600145 OMIM:306955

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen