Human Phenotype Ontology

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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 structure (HP:0011061)

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

Parent Node:
Hypoplasia of teeth (HP:0000685)

..Starting node
..Hypoplasia of the primary teeth (HP:0006334)

Term ID:

6334

Name:

Hypoplasia of the primary teeth

Synonym:

Decreased size of baby teeth; Decreased size of deciduous teeth; Decreased size of milk teeth; Decreased size of primary teeth; Hypoplastic deciduous teeth; Small baby teeth; Small milk teeth; Small primary teeth; Underdevelopment of baby teeth; Underdevelopment of milk teeth; Underdevelopment of primary teeth

Definition:

Developmental hypoplasia of the primary teeth.

Comments:

Reference:

HP:0006334

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enamel hypoplasia (HP:0006297)

Hypoplasia of the tooth germ (HP:0006353)

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:0006334	HP:0006334	Hypoplasia of the primary teeth	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0006334	HP:0006334	Hypoplasia of the primary teeth	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0006334	HP:0006334	Hypoplasia of the primary teeth	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0006334	HP:0006334	Hypoplasia of the primary teeth	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0006334	HP:0006334	Hypoplasia of the primary teeth	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0006334	HP:0006334	Hypoplasia of the primary teeth	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0006334	HP:0006334	Hypoplasia of the primary teeth	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25

Genes (5) :ERCC1 ERCC4 ERCC6 ERCC8 UBR1

Diseases (3) :ORPHA:90322 ORPHA:90321 OMIM:243800

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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