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:
Abnormal oral cavity morphology (HP:0000163)

Parent Node:
Abnormality of the dentition (HP:0000164)

..Starting node
..Irregular dentition (HP:0040079)

Term ID:

40079

Name:

Irregular dentition

Synonym:

Irregular teeth

Definition:

Comments:

Reference:

HP:0040079

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal number of teeth (HP:0006483)

Abnormal periodontium morphology (HP:0410026)

Abnormality of canine (HP:0011078)

Abnormality of dental eruption (HP:0006292)

Abnormality of dental morphology (HP:0006482)

Abnormality of dental structure (HP:0011061)

Abnormality of molar (HP:0011077)

Abnormality of premolar (HP:0011076)

Abnormality of primary teeth (HP:0006481)

Abnormality of the incisor (HP:0000676)

Buried teeth encased in mucopolysaccharide (HP:0006326)

Fragile teeth (HP:0025124)

Odontogenic neoplasm (HP:0100612)

Periapical bone loss (HP:0000700)

Periodontitis (HP:0000704)

Premature loss of teeth (HP:0006480)

Tooth malposition (HP:0000692)

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:0040079	HP:0040079	Irregular dentition	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0040079	HP:0040079	Irregular dentition	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0040079	HP:0040079	Irregular dentition	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0040079	HP:0040079	Irregular dentition	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0040079	HP:0040079	Irregular dentition	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0040079	HP:0040079	Irregular dentition	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0040079	HP:0040079	Irregular dentition	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0040079	HP:0040079	Irregular dentition	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0040079	HP:0040079	Irregular dentition	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0040079	HP:0040079	Irregular dentition	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0040079	HP:0040079	Irregular dentition	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33

Genes (7) :DCHS1 FAT4 NFIX NMNAT1 RIN2 SOX9 TMEM231

Diseases (10) :ORPHA:314679 OMIM:601390 OMIM:616006 OMIM:615546 OMIM:602535 OMIM:619260 OMIM:613075 ORPHA:217335 OMIM:114290 ORPHA:2752

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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