Human Phenotype Ontology

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:0011077	HP:0011077	Abnormality of molar	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0011077	HP:0011077	Abnormality of molar	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011077	HP:0011077	Abnormality of molar	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0011077	HP:0011077	Abnormality of molar	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0011077	HP:0011077	Abnormality of molar	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0011077	HP:0011077	Abnormality of molar	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0011077	HP:0011077	Abnormality of molar	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0011077	HP:0011077	Abnormality of molar	0	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0011077	HP:0011077	Abnormality of molar	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome		48
HP:0011077	HP:0011077	Abnormality of molar	0	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome		48
HP:0011077	HP:0011077	Abnormality of molar	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0011077	HP:0011077	Abnormality of molar	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011077	HP:0011077	Abnormality of molar	0	EDA CL E G H	1896	3157	OMIM:313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1		115
HP:0011077	HP:0011077	Abnormality of molar	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011077	HP:0011077	Abnormality of molar	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome		18
HP:0011077	HP:0011077	Abnormality of molar	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011077	HP:0011077	Abnormality of molar	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011077	HP:0011077	Abnormality of molar	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0011077	HP:0011077	Abnormality of molar	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0011077	HP:0011077	Abnormality of molar	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0011077	HP:0011077	Abnormality of molar	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0011077	HP:0011077	Abnormality of molar	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0011077	HP:0011077	Abnormality of molar	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0011077	HP:0011077	Abnormality of molar	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0011077	HP:0011077	Abnormality of molar	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011077	HP:0011077	Abnormality of molar	0	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA		167
HP:0011077	HP:0011077	Abnormality of molar	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011077	HP:0011077	Abnormality of molar	0	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7		26
HP:0011077	HP:0011077	Abnormality of molar	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011077	HP:0011077	Abnormality of molar	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0011077	HP:0011077	Abnormality of molar	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0011077	HP:0011077	Abnormality of molar	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0011077	HP:0011077	Abnormality of molar	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0011077	HP:0011077	Abnormality of molar	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0011077	HP:0011077	Abnormality of molar	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0011077	HP:0011077	Abnormality of molar	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0011077	HP:0011077	Abnormality of molar	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011077	HP:0011077	Abnormality of molar	0	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3		58
HP:0011077	HP:0011077	Abnormality of molar	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0011077	HP:0011077	Abnormality of molar	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0011077	HP:0011077	Abnormality of molar	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0011077	HP:0011077	Abnormality of molar	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0011077	HP:0011077	Abnormality of molar	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011077	HP:0011077	Abnormality of molar	0	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0011077	HP:0011077	Abnormality of molar	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011077	HP:0011077	Abnormality of molar	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0011077	HP:0011077	Abnormality of molar	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0011077	HP:0011077	Abnormality of molar	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0011077	HP:0011077	Abnormality of molar	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011077	HP:0011077	Abnormality of molar	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0011077	HP:0011077	Abnormality of molar	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0011077	HP:0011077	Abnormality of molar	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011077	HP:0011077	Abnormality of molar	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0011077	HP:0011077	Abnormality of molar	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0011077	HP:0011077	Abnormality of molar	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0011077	HP:0011077	Abnormality of molar	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0011077	HP:0011077	Abnormality of molar	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0011077	HP:0011077	Abnormality of molar	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011077	HP:0011077	Abnormality of molar	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011077	HP:0011077	Abnormality of molar	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0011077	HP:0011070	Abnormal molar morphology	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0011077	HP:0011054	Agenesis of molar	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011077	HP:0011070	Abnormal molar morphology	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011077	HP:0011070	Abnormal molar morphology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0011077	HP:0011070	Abnormal molar morphology	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0011077	HP:0011070	Abnormal molar morphology	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0011077	HP:0011070	Abnormal molar morphology	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0011077	HP:0011070	Abnormal molar morphology	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0011077	HP:0011070	Abnormal molar morphology	1	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0011077	HP:0011070	Abnormal molar morphology	1	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome		48
HP:0011077	HP:0011070	Abnormal molar morphology	1	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome		48
HP:0011077	HP:0011070	Abnormal molar morphology	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0011077	HP:0011070	Abnormal molar morphology	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011077	HP:0011054	Agenesis of molar	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011077	HP:0011054	Agenesis of molar	1	EDA CL E G H	1896	3157	OMIM:313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1		115
HP:0011077	HP:0011054	Agenesis of molar	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011077	HP:0011070	Abnormal molar morphology	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011077	HP:0011070	Abnormal molar morphology	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040281 - Very frequent	18
HP:0011077	HP:0011054	Agenesis of molar	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011077	HP:0011070	Abnormal molar morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011077	HP:0011070	Abnormal molar morphology	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011077	HP:0011070	Abnormal molar morphology	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0011077	HP:0011070	Abnormal molar morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0011077	HP:0011070	Abnormal molar morphology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0011077	HP:0011070	Abnormal molar morphology	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0011077	HP:0011070	Abnormal molar morphology	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0011077	HP:0011070	Abnormal molar morphology	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0011077	HP:0011070	Abnormal molar morphology	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0011077	HP:0011054	Agenesis of molar	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011077	HP:0011070	Abnormal molar morphology	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011077	HP:0011070	Abnormal molar morphology	1	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA		167
HP:0011077	HP:0011054	Agenesis of molar	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011077	HP:0011070	Abnormal molar morphology	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011077	HP:0011070	Abnormal molar morphology	1	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7		26
HP:0011077	HP:0011054	Agenesis of molar	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011077	HP:0011070	Abnormal molar morphology	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011077	HP:0011070	Abnormal molar morphology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0011077	HP:0011070	Abnormal molar morphology	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0011077	HP:0011070	Abnormal molar morphology	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0011077	HP:0011070	Abnormal molar morphology	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0011077	HP:0011070	Abnormal molar morphology	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0011077	HP:0011070	Abnormal molar morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0011077	HP:0011070	Abnormal molar morphology	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0011077	HP:0011054	Agenesis of molar	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011077	HP:0011070	Abnormal molar morphology	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011077	HP:0011054	Agenesis of molar	1	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3		58
HP:0011077	HP:0011070	Abnormal molar morphology	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0011077	HP:0011070	Abnormal molar morphology	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0011077	HP:0011070	Abnormal molar morphology	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0011077	HP:0011070	Abnormal molar morphology	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0011077	HP:0011070	Abnormal molar morphology	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0011077	HP:0011070	Abnormal molar morphology	1	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0011077	HP:0011070	Abnormal molar morphology	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011077	HP:0011054	Agenesis of molar	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011077	HP:0011054	Agenesis of molar	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0011077	HP:0011070	Abnormal molar morphology	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0011077	HP:0011070	Abnormal molar morphology	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0011077	HP:0011070	Abnormal molar morphology	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011077	HP:0011054	Agenesis of molar	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011077	HP:0011070	Abnormal molar morphology	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0011077	HP:0011070	Abnormal molar morphology	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0011077	HP:0011070	Abnormal molar morphology	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011077	HP:0011070	Abnormal molar morphology	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0011077	HP:0011070	Abnormal molar morphology	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0011077	HP:0011070	Abnormal molar morphology	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0011077	HP:0011070	Abnormal molar morphology	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0011077	HP:0011070	Abnormal molar morphology	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0011077	HP:0011054	Agenesis of molar	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011077	HP:0011070	Abnormal molar morphology	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011077	HP:0011070	Abnormal molar morphology	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011077	HP:0011054	Agenesis of molar	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011077	HP:0011070	Abnormal molar morphology	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0011077	HP:0033783	Molar incisor malformation	2	CL E G H
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011077	HP:0011055	Agenesis of permanent molar	2	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome		48
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome		48
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011077	HP:0011055	Agenesis of permanent molar	2	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011077	HP:0011055	Agenesis of permanent molar	2	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome		18
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011077	HP:0011055	Agenesis of permanent molar	2	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011077	HP:0011055	Agenesis of permanent molar	2	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA		167
HP:0011077	HP:0011055	Agenesis of permanent molar	2	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7		26
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011077	HP:0011055	Agenesis of permanent molar	2	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0011077	HP:0011092	Mulberry molar	2	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011077	HP:0011055	Agenesis of permanent molar	2	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0011077	HP:0011055	Agenesis of permanent molar	2	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3		58
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0011077	HP:0011055	Agenesis of permanent molar	2	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011077	HP:0011055	Agenesis of permanent molar	2	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0011077	HP:0011055	Agenesis of permanent molar	2	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0011077	HP:0011055	Agenesis of permanent molar	2	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011077	HP:0006344	Abnormality of primary molar morphology	2	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0011077	HP:0011071	Abnormality of permanent molar morphology	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0011077	HP:0011057	Agenesis of second permanent molar	3	CL E G H
HP:0011077	HP:0000679	Taurodontia	3	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	435
HP:0011077	HP:0000679	Taurodontia	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent	7
HP:0011077	HP:0000679	Taurodontia	3	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0011077	HP:0000679	Taurodontia	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0011077	HP:0000679	Taurodontia	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0011077	HP:0000679	Taurodontia	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0011077	HP:0000679	Taurodontia	3	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0011077	HP:0000679	Taurodontia	3	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48
HP:0011077	HP:0000679	Taurodontia	3	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.	48
HP:0011077	HP:0000679	Taurodontia	3	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	115
HP:0011077	HP:0000679	Taurodontia	3	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	56
HP:0011077	HP:0000679	Taurodontia	3	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0011077	HP:0000679	Taurodontia	3	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent	18
HP:0011077	HP:0000679	Taurodontia	3	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	172
HP:0011077	HP:0000679	Taurodontia	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0011077	HP:0000679	Taurodontia	3	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0011077	HP:0000679	Taurodontia	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0011077	HP:0000679	Taurodontia	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0011077	HP:0000679	Taurodontia	3	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	93
HP:0011077	HP:0000679	Taurodontia	3	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	11
HP:0011077	HP:0000679	Taurodontia	3	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	4
HP:0011077	HP:0000679	Taurodontia	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0011077	HP:0000679	Taurodontia	3	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	99
HP:0011077	HP:0000679	Taurodontia	3	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA	HP:0040283 - Occasional	167
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	26
HP:0011077	HP:0000679	Taurodontia	3	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0011077	HP:0000679	Taurodontia	3	LRP6 CL E G H	4040	6698	OMIM:616724	Tooth agenesis, selective, 7	HP:0040283 - Occasional	26
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	12
HP:0011077	HP:0000679	Taurodontia	3	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0011077	HP:0000679	Taurodontia	3	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0011077	HP:0000679	Taurodontia	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0011077	HP:0000679	Taurodontia	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0011077	HP:0000679	Taurodontia	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0011077	HP:0000679	Taurodontia	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0011077	HP:0000679	Taurodontia	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	58
HP:0011077	HP:0000679	Taurodontia	3	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0011077	HP:0000679	Taurodontia	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	169
HP:0011077	HP:0000679	Taurodontia	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	98
HP:0011077	HP:0000679	Taurodontia	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0011077	HP:0000679	Taurodontia	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0011077	HP:0000679	Taurodontia	3	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth	HP:0040283 - Occasional	4
HP:0011077	HP:0000679	Taurodontia	3	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	8
HP:0011077	HP:0000679	Taurodontia	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0011077	HP:0000679	Taurodontia	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0011077	HP:0000679	Taurodontia	3	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040282 - Frequent
HP:0011077	HP:0000679	Taurodontia	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0011077	HP:0000679	Taurodontia	3	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent	140
HP:0011077	HP:0000679	Taurodontia	3	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011077	HP:0000679	Taurodontia	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0011077	HP:0000679	Taurodontia	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0011077	HP:0000679	Taurodontia	3	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	95
HP:0011077	HP:0000679	Taurodontia	3	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0011077	HP:0000679	Taurodontia	3	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	136
HP:0011077	HP:0000679	Taurodontia	3	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	71
HP:0011077	HP:0011056	Agenesis of first permanent molar tooth	3	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	4
HP:0011077	HP:0000679	Taurodontia	3	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4
HP:0011077	HP:0000679	Taurodontia	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40