Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 the dentition (HP:0000164)

Parent Node:
Abnormality of dental morphology (HP:0006482)

Parent Node:
Abnormality of molar (HP:0011077)

..Starting node
..Abnormal molar morphology (HP:0011070)

Term ID:

11070

Name:

Abnormal molar morphology

Synonym:

Abnormal shape of molar tooth; Abnormality of molar morphology

Definition:

An abnormality of morphology of molar tooth.

Comments:

Reference:

HP:0011070

Genes and Diseases:

Child Nodes:

........

Abnormality of primary molar morphology (HP:0006344)

........

Abnormality of permanent molar morphology (HP:0011071)

................... HP:0000679 Taurodontia

........

Mulberry molar (HP:0011092)

Sister Nodes:

Agenesis of molar (HP:0011054)

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:0011070	HP:0011070	Abnormal molar morphology	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0011070	HP:0011070	Abnormal molar morphology	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011070	HP:0011070	Abnormal molar morphology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0011070	HP:0011070	Abnormal molar morphology	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0011070	HP:0011070	Abnormal molar morphology	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0011070	HP:0011070	Abnormal molar morphology	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0011070	HP:0011070	Abnormal molar morphology	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0011070	HP:0011070	Abnormal molar morphology	0	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0011070	HP:0011070	Abnormal molar morphology	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome		48
HP:0011070	HP:0011070	Abnormal molar morphology	0	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome		48
HP:0011070	HP:0011070	Abnormal molar morphology	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0011070	HP:0011070	Abnormal molar morphology	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011070	HP:0011070	Abnormal molar morphology	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011070	HP:0011070	Abnormal molar morphology	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040281 - Very frequent	18
HP:0011070	HP:0011070	Abnormal molar morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011070	HP:0011070	Abnormal molar morphology	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011070	HP:0011070	Abnormal molar morphology	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0011070	HP:0011070	Abnormal molar morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0011070	HP:0011070	Abnormal molar morphology	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0011070	HP:0011070	Abnormal molar morphology	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0011070	HP:0011070	Abnormal molar morphology	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0011070	HP:0011070	Abnormal molar morphology	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0011070	HP:0011070	Abnormal molar morphology	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0011070	HP:0011070	Abnormal molar morphology	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011070	HP:0011070	Abnormal molar morphology	0	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA		167
HP:0011070	HP:0011070	Abnormal molar morphology	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011070	HP:0011070	Abnormal molar morphology	0	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7		26
HP:0011070	HP:0011070	Abnormal molar morphology	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011070	HP:0011070	Abnormal molar morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0011070	HP:0011070	Abnormal molar morphology	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0011070	HP:0011070	Abnormal molar morphology	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0011070	HP:0011070	Abnormal molar morphology	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0011070	HP:0011070	Abnormal molar morphology	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0011070	HP:0011070	Abnormal molar morphology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0011070	HP:0011070	Abnormal molar morphology	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0011070	HP:0011070	Abnormal molar morphology	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011070	HP:0011070	Abnormal molar morphology	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0011070	HP:0011070	Abnormal molar morphology	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0011070	HP:0011070	Abnormal molar morphology	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0011070	HP:0011070	Abnormal molar morphology	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0011070	HP:0011070	Abnormal molar morphology	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011070	HP:0011070	Abnormal molar morphology	0	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0011070	HP:0011070	Abnormal molar morphology	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011070	HP:0011070	Abnormal molar morphology	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0011070	HP:0011070	Abnormal molar morphology	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0011070	HP:0011070	Abnormal molar morphology	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011070	HP:0011070	Abnormal molar morphology	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0011070	HP:0011070	Abnormal molar morphology	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0011070	HP:0011070	Abnormal molar morphology	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011070	HP:0011070	Abnormal molar morphology	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0011070	HP:0011070	Abnormal molar morphology	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0011070	HP:0011070	Abnormal molar morphology	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0011070	HP:0011070	Abnormal molar morphology	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0011070	HP:0011070	Abnormal molar morphology	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0011070	HP:0011070	Abnormal molar morphology	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011070	HP:0011070	Abnormal molar morphology	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011070	HP:0011070	Abnormal molar morphology	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0011070	HP:0033783	Molar incisor malformation	1	CL E G H
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome		48
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome		48
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome		18
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA		167
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7		26
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0011070	HP:0011092	Mulberry molar	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011070	HP:0006344	Abnormality of primary molar morphology	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4
HP:0011070	HP:0011071	Abnormality of permanent molar morphology	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0011070	HP:0000679	Taurodontia	2	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0011070	HP:0000679	Taurodontia	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent	7
HP:0011070	HP:0000679	Taurodontia	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0011070	HP:0000679	Taurodontia	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0011070	HP:0000679	Taurodontia	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0011070	HP:0000679	Taurodontia	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0011070	HP:0000679	Taurodontia	2	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0011070	HP:0000679	Taurodontia	2	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48
HP:0011070	HP:0000679	Taurodontia	2	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.	48
HP:0011070	HP:0000679	Taurodontia	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0011070	HP:0000679	Taurodontia	2	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0011070	HP:0000679	Taurodontia	2	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0011070	HP:0000679	Taurodontia	2	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent	18
HP:0011070	HP:0000679	Taurodontia	2	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0011070	HP:0000679	Taurodontia	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0011070	HP:0000679	Taurodontia	2	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0011070	HP:0000679	Taurodontia	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0011070	HP:0000679	Taurodontia	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0011070	HP:0000679	Taurodontia	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	93
HP:0011070	HP:0000679	Taurodontia	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	11
HP:0011070	HP:0000679	Taurodontia	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	4
HP:0011070	HP:0000679	Taurodontia	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0011070	HP:0000679	Taurodontia	2	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0011070	HP:0000679	Taurodontia	2	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA	HP:0040283 - Occasional	167
HP:0011070	HP:0000679	Taurodontia	2	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0011070	HP:0000679	Taurodontia	2	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7	HP:0040283 - Occasional	26
HP:0011070	HP:0000679	Taurodontia	2	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0011070	HP:0000679	Taurodontia	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0011070	HP:0000679	Taurodontia	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0011070	HP:0000679	Taurodontia	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0011070	HP:0000679	Taurodontia	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0011070	HP:0000679	Taurodontia	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0011070	HP:0000679	Taurodontia	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0011070	HP:0000679	Taurodontia	2	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0011070	HP:0000679	Taurodontia	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	169
HP:0011070	HP:0000679	Taurodontia	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	98
HP:0011070	HP:0000679	Taurodontia	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0011070	HP:0000679	Taurodontia	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0011070	HP:0000679	Taurodontia	2	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth	HP:0040283 - Occasional	4
HP:0011070	HP:0000679	Taurodontia	2	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0011070	HP:0000679	Taurodontia	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0011070	HP:0000679	Taurodontia	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0011070	HP:0000679	Taurodontia	2	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0011070	HP:0000679	Taurodontia	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0011070	HP:0000679	Taurodontia	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent	140
HP:0011070	HP:0000679	Taurodontia	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011070	HP:0000679	Taurodontia	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0011070	HP:0000679	Taurodontia	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0011070	HP:0000679	Taurodontia	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	95
HP:0011070	HP:0000679	Taurodontia	2	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0011070	HP:0000679	Taurodontia	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	136
HP:0011070	HP:0000679	Taurodontia	2	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0011070	HP:0000679	Taurodontia	2	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4
HP:0011070	HP:0000679	Taurodontia	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40

Genes (49) :ADAMTS2 AXIN2 BRF1 CTC1 DEAF1 DKC1 DLX3 EDA EDARADD FGF3 FGFR1 FLII GALNT3 GJA1 IFT122 IFT43 IFT52 IQSEC2 IRF6 LAMB3 LRP6 MSX1 NEK1 NHP2 NHS NOP10 NPM1 OCRL PARN PAX9 PEX1 PEX6 RAI1 RTEL1 SMARCAL1 SMOC2 SUMO1 TERC TERT TGFA TINF2 TP63 TYMS USB1 WDR19 WDR35 WNT10A WNT10B WRAP53

Diseases (26) :OMIM:225410 ORPHA:99798 ORPHA:444072 OMIM:616202 ORPHA:1775 ORPHA:819 OMIM:104510 ORPHA:3352 OMIM:190320 OMIM:305100 ORPHA:2791 OMIM:211900 ORPHA:2710 OMIM:164200 ORPHA:1515 OMIM:104530 OMIM:616724 ORPHA:2751 OMIM:302350 ORPHA:534 ORPHA:3220 ORPHA:1830 OMIM:125400 ORPHA:1896 OMIM:129400 OMIM:614378

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen