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 mandible condylar process morphology (HP:3000077)

Grandparent Node:
Short mandibular rami (HP:0003778)

Parent Node:
Short mandibular condyles (HP:0005790)

..Starting node
..Mandibular condyle aplasia (HP:0007627)

Term ID:

7627

Name:

Mandibular condyle aplasia

Synonym:

Absence of the condylar head of mandible; Absence of the condylar neck of mandible; Absence of the condylar process of mandible; Agenesis of condylar head of mandible; Agenesis of condylar neck of mandible; Agenesis of condylar process of mandible; Failure of development of condylar head of mandible; Failure of development of condylar neck of mandible; Failure of development of the condylar process of mandible; Underdevelopment of condylar head of mandible; Underdevelopment of condylar neck of mandible; Underdevelopment of condylar process of mandible

Definition:

Comments:

Reference:

HP:0007627

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mandibular condyle hypoplasia (HP:0007628)

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:0007627	HP:0007627	Mandibular condyle aplasia	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional	6
HP:0007627	HP:0007627	Mandibular condyle aplasia	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional	2
HP:0007627	HP:0007627	Mandibular condyle aplasia	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0007627	HP:0007627	Mandibular condyle aplasia	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional	82
HP:0007627	HP:0007627	Mandibular condyle aplasia	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82

Genes (3) :EDN1 GNAI3 PLCB4

Diseases (3) :ORPHA:137888 OMIM:602483 OMIM:614669

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