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:0006481	HP:0006481	Abnormality of primary teeth	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult		126
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood		126
HP:0006481	HP:0006481	Abnormality of primary teeth	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:0006481	HP:0006481	Abnormality of primary teeth	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	29
HP:0006481	HP:0006481	Abnormality of primary teeth	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0006481	HP:0006481	Abnormality of primary teeth	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0006481	HP:0006481	Abnormality of primary teeth	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0006481	HP:0006481	Abnormality of primary teeth	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0006481	HP:0006481	Abnormality of primary teeth	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0006481	HP:0006481	Abnormality of primary teeth	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0006481	HP:0006481	Abnormality of primary teeth	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0006481	HP:0006481	Abnormality of primary teeth	0	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		51
HP:0006481	HP:0006481	Abnormality of primary teeth	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0006481	HP:0006481	Abnormality of primary teeth	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0006481	HP:0006481	Abnormality of primary teeth	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0006481	HP:0006481	Abnormality of primary teeth	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0006481	HP:0006481	Abnormality of primary teeth	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0006481	HP:0006481	Abnormality of primary teeth	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:0006481	HP:0006481	Abnormality of primary teeth	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		86
HP:0006481	HP:0006481	Abnormality of primary teeth	0	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		86
HP:0006481	HP:0006481	Abnormality of primary teeth	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		56
HP:0006481	HP:0006481	Abnormality of primary teeth	0	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		56
HP:0006481	HP:0006481	Abnormality of primary teeth	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:0006481	HP:0006481	Abnormality of primary teeth	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0006481	HP:0006481	Abnormality of primary teeth	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0006481	HP:0006481	Abnormality of primary teeth	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0006481	HP:0006481	Abnormality of primary teeth	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0006481	HP:0006481	Abnormality of primary teeth	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0006481	HP:0006481	Abnormality of primary teeth	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0006481	HP:0006481	Abnormality of primary teeth	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0006481	HP:0006481	Abnormality of primary teeth	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0006481	HP:0006481	Abnormality of primary teeth	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:0006481	HP:0006481	Abnormality of primary teeth	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0006481	HP:0006481	Abnormality of primary teeth	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0006481	HP:0006481	Abnormality of primary teeth	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0006481	HP:0006481	Abnormality of primary teeth	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia		1
HP:0006481	HP:0006481	Abnormality of primary teeth	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0006481	HP:0006481	Abnormality of primary teeth	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0006481	HP:0006481	Abnormality of primary teeth	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0006481	HP:0006481	Abnormality of primary teeth	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:0006481	HP:0006481	Abnormality of primary teeth	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:0006481	HP:0006481	Abnormality of primary teeth	0	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome		12
HP:0006481	HP:0006481	Abnormality of primary teeth	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:0006481	HP:0006481	Abnormality of primary teeth	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia		7
HP:0006481	HP:0006481	Abnormality of primary teeth	0	PTH1R CL E G H	5745	9608	OMIM:125350	Dental noneruption		58
HP:0006481	HP:0006481	Abnormality of primary teeth	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0006481	HP:0006481	Abnormality of primary teeth	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0006481	HP:0006481	Abnormality of primary teeth	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0006481	HP:0006481	Abnormality of primary teeth	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0006481	HP:0006481	Abnormality of primary teeth	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0006481	HP:0006481	Abnormality of primary teeth	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0006481	HP:0006481	Abnormality of primary teeth	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0006481	HP:0006481	Abnormality of primary teeth	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0006481	HP:0006481	Abnormality of primary teeth	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0006481	HP:0006481	Abnormality of primary teeth	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0006481	HP:0006481	Abnormality of primary teeth	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0006481	HP:0006481	Abnormality of primary teeth	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0006481	HP:0006481	Abnormality of primary teeth	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0006481	HP:0006481	Abnormality of primary teeth	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0006481	HP:0006481	Abnormality of primary teeth	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0006481	HP:0006481	Abnormality of primary teeth	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:0006481	HP:0006481	Abnormality of primary teeth	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0006481	HP:0006481	Abnormality of primary teeth	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0006481	HP:0006481	Abnormality of primary teeth	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:0006481	HP:0006481	Abnormality of primary teeth	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0006481	HP:0006481	Abnormality of primary teeth	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0006481	HP:0006481	Abnormality of primary teeth	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0006481	HP:0006481	Abnormality of primary teeth	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0006481	HP:0006481	Abnormality of primary teeth	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0006481	HP:0006481	Abnormality of primary teeth	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0006481	HP:0006481	Abnormality of primary teeth	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets		104
HP:0006481	HP:0006481	Abnormality of primary teeth	0	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia		71
HP:0006481	HP:0006481	Abnormality of primary teeth	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0006481	HP:0006481	Abnormality of primary teeth	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:0006481	HP:0006481	Abnormality of primary teeth	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0006481	HP:0006481	Abnormality of primary teeth	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0006481	HP:0006481	Abnormality of primary teeth	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:0006481	HP:0006481	Abnormality of primary teeth	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0006481	HP:0006481	Abnormality of primary teeth	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0006481	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:0006481	HP:0006323	Premature loss of primary teeth	1	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0006481	HP:0006323	Premature loss of primary teeth	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0006481	HP:0006335	Persistence of primary teeth	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0006481	HP:0006323	Premature loss of primary teeth	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040283 - Occasional	15
HP:0006481	HP:0006323	Premature loss of primary teeth	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040283 - Occasional	7
HP:0006481	HP:0006335	Persistence of primary teeth	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0006481	HP:0006323	Premature loss of primary teeth	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	102
HP:0006481	HP:0006323	Premature loss of primary teeth	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0006481	HP:0006323	Premature loss of primary teeth	1	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	51
HP:0006481	HP:0006323	Premature loss of primary teeth	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent	50
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0006481	HP:0006335	Persistence of primary teeth	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0006481	HP:0006335	Persistence of primary teeth	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0006481	HP:0006335	Persistence of primary teeth	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0006481	HP:0006323	Premature loss of primary teeth	1	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	86
HP:0006481	HP:0006323	Premature loss of primary teeth	1	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	86
HP:0006481	HP:0006323	Premature loss of primary teeth	1	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0006481	HP:0006323	Premature loss of primary teeth	1	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0006481	HP:0006335	Persistence of primary teeth	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0006481	HP:0006313	Widely spaced primary teeth	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0006481	HP:0006334	Hypoplasia of the primary teeth	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0006481	HP:0006334	Hypoplasia of the primary teeth	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0006481	HP:0006313	Widely spaced primary teeth	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0006481	HP:0006334	Hypoplasia of the primary teeth	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0006481	HP:0006313	Widely spaced primary teeth	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0006481	HP:0006313	Widely spaced primary teeth	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0006481	HP:0006334	Hypoplasia of the primary teeth	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0006481	HP:0006334	Hypoplasia of the primary teeth	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0006481	HP:0006313	Widely spaced primary teeth	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0006481	HP:0006334	Hypoplasia of the primary teeth	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0006481	HP:0006313	Widely spaced primary teeth	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0006481	HP:0006335	Persistence of primary teeth	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040283 - Occasional	8
HP:0006481	HP:0006323	Premature loss of primary teeth	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0006481	HP:0006323	Premature loss of primary teeth	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0006481	HP:0006323	Premature loss of primary teeth	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0006481	HP:0006335	Persistence of primary teeth	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0006481	HP:0006323	Premature loss of primary teeth	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent	68
HP:0006481	HP:0006335	Persistence of primary teeth	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0006481	HP:0006335	Persistence of primary teeth	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0006481	HP:0006335	Persistence of primary teeth	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0006481	HP:0006335	Persistence of primary teeth	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0006481	HP:0006323	Premature loss of primary teeth	1	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	1
HP:0006481	HP:0006335	Persistence of primary teeth	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0006481	HP:0006335	Persistence of primary teeth	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0006481	HP:0006347	Microdontia of primary teeth	1	MSX1 CL E G H	4487	7391	OMIM:189500	Witkop syndrome	.	12
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0006481	HP:0006323	Premature loss of primary teeth	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.	7
HP:0006481	HP:0006335	Persistence of primary teeth	1	PTH1R CL E G H	5745	9608	OMIM:125350	Dental noneruption	.	58
HP:0006481	HP:0006335	Persistence of primary teeth	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0006481	HP:0006335	Persistence of primary teeth	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0006481	HP:0006335	Persistence of primary teeth	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0006481	HP:0006335	Persistence of primary teeth	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0006481	HP:0006313	Widely spaced primary teeth	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0006481	HP:0000680	Delayed eruption of primary teeth	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0006481	HP:0006335	Persistence of primary teeth	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0006481	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:0006481	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:0006481	HP:0006323	Premature loss of primary teeth	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	2
HP:0006481	HP:0006335	Persistence of primary teeth	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	HP:0040284 - Very rare
HP:0006481	HP:0006335	Persistence of primary teeth	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0006481	HP:0006335	Persistence of primary teeth	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0006481	HP:0006323	Premature loss of primary teeth	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	82
HP:0006481	HP:0006335	Persistence of primary teeth	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0006481	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:0006481	HP:0006323	Premature loss of primary teeth	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	44
HP:0006481	HP:0006335	Persistence of primary teeth	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0006481	HP:0006323	Premature loss of primary teeth	1	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent
HP:0006481	HP:0006334	Hypoplasia of the primary teeth	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0006481	HP:0006323	Premature loss of primary teeth	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0006481	HP:0006323	Premature loss of primary teeth	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040282 - Frequent	104
HP:0006481	HP:0006323	Premature loss of primary teeth	1	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	71
HP:0006481	HP:0006313	Widely spaced primary teeth	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0006481	HP:0006323	Premature loss of primary teeth	1	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040282 - Frequent	71
HP:0006481	HP:0006344	Abnormality of primary molar morphology	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4
HP:0006481	HP:0006335	Persistence of primary teeth	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0006481	HP:0006335	Persistence of primary teeth	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0006481	HP:0006335	Persistence of primary teeth	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83