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 incisor morphology (HP:0011063)

Grandparent Node:
Macrodontia (HP:0001572)

Parent Node:
Incisor macrodontia (HP:0011081)

..Starting node
..Macrodontia of permanent maxillary central incisor (HP:0000675)

Term ID:

675

Name:

Macrodontia of permanent maxillary central incisor

Synonym:

Hyperplasia of permanent maxillary central incisor; Hypertrophy of permanent maxillary central incisor; Increased size of permanent maxillary central incisor; Increased size of permanent upper central incisor; Increased width of permanent maxillary central incisor; Increased width of permanent upper central incisor; Large permanent maxillary central incisor; Large permanent upper central incisor; Long maxillary central incisors; Prominent upper incisors; Prominent, protruding upper incisors

Definition:

Increased size of the maxillary central secondary incisor tooth.

Comments:

Reference:

HP:0000675

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent	7
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0000675	HP:0000675	Macrodontia of permanent maxillary central incisor	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546

Genes (10) :ATP6V1B2 BRF1 COL11A1 CTCF FARS2 GJA1 GRIA3 KCNMA1 TBC1D24 VPS13B

Diseases (10) :ORPHA:79500 ORPHA:444072 OMIM:616202 OMIM:154780 ORPHA:363611 ORPHA:466722 OMIM:257850 ORPHA:364028 OMIM:618729 OMIM:216550

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