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:
Tooth malposition (HP:0000692)

Parent Node:
Abnormality of primary teeth (HP:0006481)

Parent Node:
Widely spaced teeth (HP:0000687)

..Starting node
..Widely spaced primary teeth (HP:0006313)

Term ID:

6313

Name:

Widely spaced primary teeth

Synonym:

Generalised spacing of primary teeth; Generalized spacing of primary teeth; Wide gaps between baby teeth; Wide gaps between primary teeth; Widely spaced baby teeth; Widely spaced deciduous teeth; Widely spaced milk teeth

Definition:

Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.

Comments:

Reference:

HP:0006313

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:0006313	HP:0006313	Widely spaced primary teeth	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0006313	HP:0006313	Widely spaced primary teeth	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0006313	HP:0006313	Widely spaced primary teeth	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0006313	HP:0006313	Widely spaced primary teeth	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0006313	HP:0006313	Widely spaced primary teeth	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0006313	HP:0006313	Widely spaced primary teeth	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0006313	HP:0006313	Widely spaced primary teeth	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0006313	HP:0006313	Widely spaced primary teeth	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71

Genes (6) :ERCC1 ERCC4 ERCC6 ERCC8 RNF113A WNT10A

Diseases (4) :ORPHA:90322 ORPHA:90321 OMIM:300953 OMIM:257980

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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