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:
Abnormality of tibia morphology (HP:0002992)

Grandparent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

Parent Node:
Aplasia involving bones of the lower limbs (HP:0009817)

Parent Node:
Aplasia/Hypoplasia of the tibia (HP:0005772)

..Starting node
..Absent tibia (HP:0009556)

Term ID:

9556

Name:

Absent tibia

Synonym:

Absent shankbone; Absent shinbone; Aplasia of the tibia

Definition:

Absence of the tibia.

Comments:

Reference:

HP:0009556

Genes and Diseases:

Child Nodes:

Sister Nodes:

Rudimentary to absent tibiae (HP:0006426)

Short tibia (HP:0005736)

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:0009556	HP:0009556	Absent tibia	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0009556	HP:0009556	Absent tibia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0009556	HP:0009556	Absent tibia	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0009556	HP:0009556	Absent tibia	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040281 - Very frequent	270
HP:0009556	HP:0009556	Absent tibia	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0009556	HP:0009556	Absent tibia	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0009556	HP:0009556	Absent tibia	0	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly	.	106
HP:0009556	HP:0009556	Absent tibia	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8

Genes (6) :ATP7A CHD7 DYNC2H1 GLI3 LMBR1 PITX1

Diseases (8) :ORPHA:198 OMIM:214800 OMIM:613091 ORPHA:93322 ORPHA:2378 OMIM:135750 OMIM:188740 OMIM:119800

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