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 connective tissue (HP:0003549)

Grandparent Node:
Abnormality of the skeletal system (HP:0000924)

Parent Node:
Abnormal dentin morphology (HP:0010299)

Parent Node:
Abnormal odontoid tissue morphology (HP:3000050)

..Starting node
..Dentinogenesis imperfecta (HP:0000703)

Term ID:

703

Name:

Dentinogenesis imperfecta

Synonym:

Definition:

Developmental dysplasia of dentin.

Comments:

Reference:

HP:0000703

Genes and Diseases:

Child Nodes:

........

Shell teeth (HP:0000694)

........

Dentinogenesis imperfecta limited to primary teeth (HP:0011060)

........

Dentinogenesis imperfecta of primary and permanent teeth (HP:0011086)

Sister Nodes:

Abnormal cementum morphology (HP:0100717)

Abnormal dental enamel morphology (HP:0000682)

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:0000703	HP:0000703	Dentinogenesis imperfecta	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	HP:0040283 - Occasional	373
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.	38
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II		38
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	DSPP CL E G H	1834	3054	OMIM:125490	Dentinogenesis imperfecta 1	.	38
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III		38
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.	61
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.	39
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040281 - Very frequent	133
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:0000703	HP:0000703	Dentinogenesis imperfecta	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0000703	HP:0011086	Dentinogenesis imperfecta of primary and permanent teeth	1	CL E G H
HP:0000703	HP:0011060	Dentinogenesis imperfecta limited to primary teeth	1	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II	.	38
HP:0000703	HP:0000694	Odontodysplasia	1	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III	.	38
HP:0000703	HP:0000694	Odontodysplasia	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217

Genes (13) :B3GALT6 COL1A1 COL1A2 DSPP FKBP10 MIA3 P4HB PHEX PPIB SEC24D SERPINH1 TRIP11 ZNF469

Diseases (18) :ORPHA:536467 OMIM:166200 OMIM:259420 OMIM:166220 OMIM:605594 OMIM:125420 OMIM:125490 OMIM:125500 OMIM:610968 OMIM:619269 OMIM:112240 ORPHA:89936 OMIM:259440 OMIM:616294 OMIM:613848 ORPHA:166272 OMIM:184260 OMIM:229200

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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