Human Phenotype Ontology

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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 dental morphology (HP:0006482)

Grandparent Node:
Abnormality of the incisor (HP:0000676)

Parent Node:
Abnormal incisor morphology (HP:0011063)

..Starting node
..Talon cusp (HP:0011087)

Term ID:

11087

Name:

Talon cusp

Synonym:

Dens evaginatus; Extra cusp on inside of front tooth; Talon cusps

Definition:

Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).

Comments:

Reference:

HP:0011087

Genes and Diseases:

Child Nodes:

Sister Nodes:

Conical incisor (HP:0011065)

Dens in dente (HP:0011088)

Discolored lateral incisors (HP:0006290)

Incisor macrodontia (HP:0011081)

Maxillary lateral incisor microdontia (HP:0001593)

Notched primary central incisor (HP:0012413)

Screwdriver-shaped incisors (HP:0006346)

Shovel-shaped maxillary central incisors (HP:0006358)

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:0011087	HP:0011087	Talon cusp	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0011087	HP:0011087	Talon cusp	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0011087	HP:0011087	Talon cusp	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011087	HP:0011087	Talon cusp	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0011087	HP:0011087	Talon cusp	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0011087	HP:0011087	Talon cusp	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011087	HP:0011087	Talon cusp	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0011087	HP:0011087	Talon cusp	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0011087	HP:0011087	Talon cusp	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101

Genes (4) :CHSY1 CREBBP EP300 NEK1

Diseases (8) :ORPHA:363417 OMIM:605282 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:613684 ORPHA:353284 ORPHA:2751

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

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