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:0000691	HP:0000691	Microdontia	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:0000691	HP:0000691	Microdontia	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0000691	HP:0000691	Microdontia	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000691	HP:0000691	Microdontia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0000691	HP:0000691	Microdontia	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000691	HP:0000691	Microdontia	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome		5
HP:0000691	HP:0000691	Microdontia	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	435
HP:0000691	HP:0000691	Microdontia	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0000691	HP:0000691	Microdontia	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0000691	HP:0000691	Microdontia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0000691	HP:0000691	Microdontia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	15
HP:0000691	HP:0000691	Microdontia	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	7
HP:0000691	HP:0000691	Microdontia	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.	572
HP:0000691	HP:0000691	Microdontia	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000691	HP:0000691	Microdontia	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000691	HP:0000691	Microdontia	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.	87
HP:0000691	HP:0000691	Microdontia	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040282 - Frequent	87
HP:0000691	HP:0000691	Microdontia	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000691	HP:0000691	Microdontia	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0000691	HP:0000691	Microdontia	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0000691	HP:0000691	Microdontia	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome		16
HP:0000691	HP:0000691	Microdontia	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0000691	HP:0000691	Microdontia	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0000691	HP:0000691	Microdontia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000691	HP:0000691	Microdontia	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000691	HP:0000691	Microdontia	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48
HP:0000691	HP:0000691	Microdontia	0	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.	48
HP:0000691	HP:0000691	Microdontia	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0000691	HP:0000691	Microdontia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000691	HP:0000691	Microdontia	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0000691	HP:0000691	Microdontia	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000691	HP:0000691	Microdontia	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	115
HP:0000691	HP:0000691	Microdontia	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	115
HP:0000691	HP:0000691	Microdontia	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0000691	HP:0000691	Microdontia	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	86
HP:0000691	HP:0000691	Microdontia	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0000691	HP:0000691	Microdontia	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.	56
HP:0000691	HP:0000691	Microdontia	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000691	HP:0000691	Microdontia	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	56
HP:0000691	HP:0000691	Microdontia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0000691	HP:0000691	Microdontia	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000691	HP:0000691	Microdontia	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0000691	HP:0000691	Microdontia	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0000691	HP:0000691	Microdontia	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000691	HP:0000691	Microdontia	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000691	HP:0000691	Microdontia	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000691	HP:0000691	Microdontia	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000691	HP:0000691	Microdontia	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent	18
HP:0000691	HP:0000691	Microdontia	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	18
HP:0000691	HP:0000691	Microdontia	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	172
HP:0000691	HP:0000691	Microdontia	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000691	HP:0000691	Microdontia	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000691	HP:0000691	Microdontia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	63
HP:0000691	HP:0000691	Microdontia	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0000691	HP:0000691	Microdontia	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent	98
HP:0000691	HP:0000691	Microdontia	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0000691	HP:0000691	Microdontia	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000691	HP:0000691	Microdontia	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000691	HP:0000691	Microdontia	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0000691	HP:0000691	Microdontia	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0000691	HP:0000691	Microdontia	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000691	HP:0000691	Microdontia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000691	HP:0000691	Microdontia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000691	HP:0000691	Microdontia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000691	HP:0000691	Microdontia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000691	HP:0000691	Microdontia	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0000691	HP:0000691	Microdontia	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000691	HP:0000691	Microdontia	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0000691	HP:0000691	Microdontia	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000691	HP:0000691	Microdontia	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	93
HP:0000691	HP:0000691	Microdontia	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0000691	HP:0000691	Microdontia	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0000691	HP:0000691	Microdontia	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	4
HP:0000691	HP:0000691	Microdontia	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	99
HP:0000691	HP:0000691	Microdontia	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000691	HP:0000691	Microdontia	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	53
HP:0000691	HP:0000691	Microdontia	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000691	HP:0000691	Microdontia	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	660
HP:0000691	HP:0000691	Microdontia	0	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA		167
HP:0000691	HP:0000691	Microdontia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000691	HP:0000691	Microdontia	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	26
HP:0000691	HP:0000691	Microdontia	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:0000691	HP:0000691	Microdontia	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000691	HP:0000691	Microdontia	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional	4
HP:0000691	HP:0000691	Microdontia	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000691	HP:0000691	Microdontia	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional	78
HP:0000691	HP:0000691	Microdontia	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000691	HP:0000691	Microdontia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000691	HP:0000691	Microdontia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000691	HP:0000691	Microdontia	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000691	HP:0000691	Microdontia	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	12
HP:0000691	HP:0000691	Microdontia	0	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome		12
HP:0000691	HP:0000691	Microdontia	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	516
HP:0000691	HP:0000691	Microdontia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0000691	HP:0000691	Microdontia	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0000691	HP:0000691	Microdontia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000691	HP:0000691	Microdontia	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0000691	HP:0000691	Microdontia	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0000691	HP:0000691	Microdontia	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000691	HP:0000691	Microdontia	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:0000691	HP:0000691	Microdontia	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	58
HP:0000691	HP:0000691	Microdontia	0	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3	HP:0040283 - Occasional	58
HP:0000691	HP:0000691	Microdontia	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000691	HP:0000691	Microdontia	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0000691	HP:0000691	Microdontia	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional	531
HP:0000691	HP:0000691	Microdontia	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	40
HP:0000691	HP:0000691	Microdontia	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000691	HP:0000691	Microdontia	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0000691	HP:0000691	Microdontia	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000691	HP:0000691	Microdontia	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0000691	HP:0000691	Microdontia	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000691	HP:0000691	Microdontia	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent	43
HP:0000691	HP:0000691	Microdontia	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	51
HP:0000691	HP:0000691	Microdontia	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0000691	HP:0000691	Microdontia	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000691	HP:0000691	Microdontia	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0000691	HP:0000691	Microdontia	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000691	HP:0000691	Microdontia	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000691	HP:0000691	Microdontia	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000691	HP:0000691	Microdontia	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.	7
HP:0000691	HP:0000691	Microdontia	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	.	68
HP:0000691	HP:0000691	Microdontia	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0000691	HP:0000691	Microdontia	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000691	HP:0000691	Microdontia	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0000691	HP:0000691	Microdontia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000691	HP:0000691	Microdontia	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0000691	HP:0000691	Microdontia	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000691	HP:0000691	Microdontia	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000691	HP:0000691	Microdontia	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0000691	HP:0000691	Microdontia	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000691	HP:0000691	Microdontia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000691	HP:0000691	Microdontia	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000691	HP:0000691	Microdontia	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0000691	HP:0000691	Microdontia	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0000691	HP:0000691	Microdontia	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0000691	HP:0000691	Microdontia	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000691	HP:0000691	Microdontia	0	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth	HP:0040283 - Occasional	4
HP:0000691	HP:0000691	Microdontia	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0000691	HP:0000691	Microdontia	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000691	HP:0000691	Microdontia	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000691	HP:0000691	Microdontia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	8
HP:0000691	HP:0000691	Microdontia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0000691	HP:0000691	Microdontia	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0000691	HP:0000691	Microdontia	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000691	HP:0000691	Microdontia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000691	HP:0000691	Microdontia	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0000691	HP:0000691	Microdontia	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000691	HP:0000691	Microdontia	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent	140
HP:0000691	HP:0000691	Microdontia	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000691	HP:0000691	Microdontia	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0000691	HP:0000691	Microdontia	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0000691	HP:0000691	Microdontia	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0000691	HP:0000691	Microdontia	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent	25
HP:0000691	HP:0000691	Microdontia	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	777
HP:0000691	HP:0000691	Microdontia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000691	HP:0000691	Microdontia	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	95
HP:0000691	HP:0000691	Microdontia	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	136
HP:0000691	HP:0000691	Microdontia	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000691	HP:0000691	Microdontia	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0000691	HP:0000691	Microdontia	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0000691	HP:0000691	Microdontia	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	155
HP:0000691	HP:0000691	Microdontia	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	71
HP:0000691	HP:0000691	Microdontia	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040282 - Frequent	4
HP:0000691	HP:0000691	Microdontia	0	WNT10B CL E G H	7480	12775	OMIM:617073	Tooth agenesis, selective, 8	.	4
HP:0000691	HP:0001593	Maxillary lateral incisor microdontia	1	CL E G H
HP:0000691	HP:0200141	Small, conical teeth	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0000691	HP:0200141	Small, conical teeth	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0000691	HP:0006311	Generalized microdontia	1	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA	.	167
HP:0000691	HP:0006347	Microdontia of primary teeth	1	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.	12
HP:0000691	HP:0006347	Microdontia of primary teeth	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000691	HP:0006347	Microdontia of primary teeth	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000691	HP:0200141	Small, conical teeth	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140