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:0000685	HP:0000685	Hypoplasia of teeth	0	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J		7
HP:0000685	HP:0000685	Hypoplasia of teeth	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0000685	HP:0000685	Hypoplasia of teeth	0	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0000685	HP:0000685	Hypoplasia of teeth	0	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE		17
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0000685	HP:0000685	Hypoplasia of teeth	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0000685	HP:0000685	Hypoplasia of teeth	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000685	HP:0000685	Hypoplasia of teeth	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000685	HP:0000685	Hypoplasia of teeth	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis		11
HP:0000685	HP:0000685	Hypoplasia of teeth	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000685	HP:0000685	Hypoplasia of teeth	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0000685	HP:0000685	Hypoplasia of teeth	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:0000685	HP:0000685	Hypoplasia of teeth	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0000685	HP:0000685	Hypoplasia of teeth	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa		129
HP:0000685	HP:0000685	Hypoplasia of teeth	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:0000685	HP:0000685	Hypoplasia of teeth	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0000685	HP:0000685	Hypoplasia of teeth	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000685	HP:0000685	Hypoplasia of teeth	0	CSTB CL E G H	1476	2482	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	51
HP:0000685	HP:0000685	Hypoplasia of teeth	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000685	HP:0000685	Hypoplasia of teeth	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0000685	HP:0000685	Hypoplasia of teeth	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0000685	HP:0000685	Hypoplasia of teeth	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0000685	HP:0000685	Hypoplasia of teeth	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0000685	HP:0000685	Hypoplasia of teeth	0	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0000685	HP:0000685	Hypoplasia of teeth	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0000685	HP:0000685	Hypoplasia of teeth	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0000685	HP:0000685	Hypoplasia of teeth	0	EDAR CL E G H	10913	2895	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	86
HP:0000685	HP:0000685	Hypoplasia of teeth	0	EDARADD CL E G H	128178	14341	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	56
HP:0000685	HP:0000685	Hypoplasia of teeth	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0000685	HP:0000685	Hypoplasia of teeth	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0000685	HP:0000685	Hypoplasia of teeth	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM		101
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome		33
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0000685	HP:0000685	Hypoplasia of teeth	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0000685	HP:0000685	Hypoplasia of teeth	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0000685	HP:0000685	Hypoplasia of teeth	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0000685	HP:0000685	Hypoplasia of teeth	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0000685	HP:0000685	Hypoplasia of teeth	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000685	HP:0000685	Hypoplasia of teeth	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	.	11
HP:0000685	HP:0000685	Hypoplasia of teeth	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0000685	HP:0000685	Hypoplasia of teeth	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0000685	HP:0000685	Hypoplasia of teeth	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0000685	HP:0000685	Hypoplasia of teeth	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000685	HP:0000685	Hypoplasia of teeth	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0000685	HP:0000685	Hypoplasia of teeth	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0000685	HP:0000685	Hypoplasia of teeth	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0000685	HP:0000685	Hypoplasia of teeth	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0000685	HP:0000685	Hypoplasia of teeth	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0000685	HP:0000685	Hypoplasia of teeth	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0000685	HP:0000685	Hypoplasia of teeth	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0000685	HP:0000685	Hypoplasia of teeth	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0000685	HP:0000685	Hypoplasia of teeth	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0000685	HP:0000685	Hypoplasia of teeth	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent	101
HP:0000685	HP:0000685	Hypoplasia of teeth	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome		1952
HP:0000685	HP:0000685	Hypoplasia of teeth	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8		1
HP:0000685	HP:0000685	Hypoplasia of teeth	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4		6
HP:0000685	HP:0000685	Hypoplasia of teeth	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1		169
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000685	HP:0000685	Hypoplasia of teeth	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000685	HP:0000685	Hypoplasia of teeth	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000685	HP:0000685	Hypoplasia of 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:0000685	HP:0000685	Hypoplasia of teeth	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome		57
HP:0000685	HP:0000685	Hypoplasia of teeth	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SP6 CL E G H	80320	14530	OMIM:620104
HP:0000685	HP:0000685	Hypoplasia of teeth	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0000685	HP:0000685	Hypoplasia of teeth	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0000685	HP:0000685	Hypoplasia of teeth	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000685	HP:0000685	Hypoplasia of teeth	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0000685	HP:0000685	Hypoplasia of teeth	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000685	HP:0000685	Hypoplasia of teeth	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0000685	HP:0000685	Hypoplasia of teeth	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000685	HP:0000685	Hypoplasia of teeth	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0000685	HP:0000685	Hypoplasia of teeth	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0000685	HP:0000685	Hypoplasia of teeth	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0000685	HP:0000685	Hypoplasia of teeth	0	WNT10A CL E G H	80326	13829	ORPHA:248	Autosomal recessive hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	71
HP:0000685	HP:0000685	Hypoplasia of teeth	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0000685	HP:0000685	Hypoplasia of teeth	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4
HP:0000685	HP:0000685	Hypoplasia of teeth	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000685	HP:0006297	Enamel hypoplasia	1	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J		7
HP:0000685	HP:0006297	Enamel hypoplasia	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000685	HP:0006297	Enamel hypoplasia	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.	87
HP:0000685	HP:0006297	Enamel hypoplasia	1	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0000685	HP:0006297	Enamel hypoplasia	1	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE	.	17
HP:0000685	HP:0006297	Enamel hypoplasia	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	.	168
HP:0000685	HP:0006297	Enamel hypoplasia	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000685	HP:0006297	Enamel hypoplasia	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0000685	HP:0006297	Enamel hypoplasia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000685	HP:0006297	Enamel hypoplasia	1	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.	11
HP:0000685	HP:0006297	Enamel hypoplasia	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000685	HP:0006297	Enamel hypoplasia	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0000685	HP:0006297	Enamel hypoplasia	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.	71
HP:0000685	HP:0006297	Enamel hypoplasia	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0000685	HP:0006297	Enamel hypoplasia	1	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0000685	HP:0006297	Enamel hypoplasia	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0000685	HP:0006297	Enamel hypoplasia	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0000685	HP:0006297	Enamel hypoplasia	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.	291
HP:0000685	HP:0006297	Enamel hypoplasia	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000685	HP:0006297	Enamel hypoplasia	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	41
HP:0000685	HP:0006297	Enamel hypoplasia	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0000685	HP:0006297	Enamel hypoplasia	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	5
HP:0000685	HP:0006297	Enamel hypoplasia	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0000685	HP:0006297	Enamel hypoplasia	1	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0000685	HP:0006297	Enamel hypoplasia	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0000685	HP:0006297	Enamel hypoplasia	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0000685	HP:0006297	Enamel hypoplasia	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0000685	HP:0006297	Enamel hypoplasia	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.	250
HP:0000685	HP:0006297	Enamel hypoplasia	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0000685	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:0000685	HP:0006297	Enamel hypoplasia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000685	HP:0006297	Enamel hypoplasia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000685	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:0000685	HP:0006297	Enamel hypoplasia	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0000685	HP:0006297	Enamel hypoplasia	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0000685	HP:0006297	Enamel hypoplasia	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0000685	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:0000685	HP:0006297	Enamel hypoplasia	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0000685	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:0000685	HP:0006297	Enamel hypoplasia	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0000685	HP:0006297	Enamel hypoplasia	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000685	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:0000685	HP:0006297	Enamel hypoplasia	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0000685	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:0000685	HP:0006297	Enamel hypoplasia	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0000685	HP:0006297	Enamel hypoplasia	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0000685	HP:0006297	Enamel hypoplasia	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000685	HP:0006297	Enamel hypoplasia	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000685	HP:0006297	Enamel hypoplasia	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000685	HP:0006297	Enamel hypoplasia	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000685	HP:0006297	Enamel hypoplasia	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0000685	HP:0006297	Enamel hypoplasia	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000685	HP:0006297	Enamel hypoplasia	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000685	HP:0006297	Enamel hypoplasia	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000685	HP:0006297	Enamel hypoplasia	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000685	HP:0006297	Enamel hypoplasia	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0000685	HP:0006297	Enamel hypoplasia	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0000685	HP:0006297	Enamel hypoplasia	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0000685	HP:0006297	Enamel hypoplasia	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0000685	HP:0006297	Enamel hypoplasia	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent	101
HP:0000685	HP:0006297	Enamel hypoplasia	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0000685	HP:0006297	Enamel hypoplasia	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0000685	HP:0006297	Enamel hypoplasia	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0000685	HP:0006297	Enamel hypoplasia	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.	101
HP:0000685	HP:0006297	Enamel hypoplasia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000685	HP:0006297	Enamel hypoplasia	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.	33
HP:0000685	HP:0006297	Enamel hypoplasia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000685	HP:0006297	Enamel hypoplasia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000685	HP:0006297	Enamel hypoplasia	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000685	HP:0006297	Enamel hypoplasia	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000685	HP:0006353	Hypoplasia of the tooth germ	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0000685	HP:0006297	Enamel hypoplasia	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000685	HP:0006297	Enamel hypoplasia	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0000685	HP:0006297	Enamel hypoplasia	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000685	HP:0006297	Enamel hypoplasia	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0000685	HP:0006297	Enamel hypoplasia	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0000685	HP:0006297	Enamel hypoplasia	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0000685	HP:0006297	Enamel hypoplasia	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0000685	HP:0006297	Enamel hypoplasia	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124
HP:0000685	HP:0006297	Enamel hypoplasia	1	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0000685	HP:0006297	Enamel hypoplasia	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000685	HP:0006297	Enamel hypoplasia	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	110
HP:0000685	HP:0006297	Enamel hypoplasia	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0000685	HP:0006297	Enamel hypoplasia	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	173
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000685	HP:0006297	Enamel hypoplasia	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0000685	HP:0006297	Enamel hypoplasia	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0000685	HP:0006297	Enamel hypoplasia	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000685	HP:0006297	Enamel hypoplasia	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0000685	HP:0006297	Enamel hypoplasia	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0000685	HP:0006297	Enamel hypoplasia	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0000685	HP:0006297	Enamel hypoplasia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000685	HP:0006297	Enamel hypoplasia	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0000685	HP:0006297	Enamel hypoplasia	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0000685	HP:0006297	Enamel hypoplasia	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent	1952
HP:0000685	HP:0006297	Enamel hypoplasia	1	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.	1
HP:0000685	HP:0006297	Enamel hypoplasia	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0000685	HP:0006297	Enamel hypoplasia	1	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4	.	6
HP:0000685	HP:0006297	Enamel hypoplasia	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0000685	HP:0006297	Enamel hypoplasia	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000685	HP:0006297	Enamel hypoplasia	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0000685	HP:0006297	Enamel hypoplasia	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0000685	HP:0006297	Enamel hypoplasia	1	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.	169
HP:0000685	HP:0006297	Enamel hypoplasia	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0000685	HP:0006297	Enamel hypoplasia	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000685	HP:0006297	Enamel hypoplasia	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0000685	HP:0006297	Enamel hypoplasia	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0000685	HP:0006297	Enamel hypoplasia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000685	HP:0006297	Enamel hypoplasia	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000685	HP:0006297	Enamel hypoplasia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000685	HP:0006297	Enamel hypoplasia	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:0000685	HP:0006297	Enamel hypoplasia	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0000685	HP:0006297	Enamel hypoplasia	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000685	HP:0006297	Enamel hypoplasia	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0000685	HP:0006297	Enamel hypoplasia	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000685	HP:0006297	Enamel hypoplasia	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000685	HP:0006297	Enamel hypoplasia	1	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0000685	HP:0006297	Enamel hypoplasia	1	SP6 CL E G H	80320	14530	OMIM:620104
HP:0000685	HP:0006297	Enamel hypoplasia	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent	86
HP:0000685	HP:0006297	Enamel hypoplasia	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0000685	HP:0006297	Enamel hypoplasia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000685	HP:0006297	Enamel hypoplasia	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0000685	HP:0006297	Enamel hypoplasia	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000685	HP:0006297	Enamel hypoplasia	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0000685	HP:0006297	Enamel hypoplasia	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040284 - Very rare	26
HP:0000685	HP:0006334	Hypoplasia of the primary teeth	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0000685	HP:0006297	Enamel hypoplasia	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0000685	HP:0006297	Enamel hypoplasia	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0000685	HP:0006297	Enamel hypoplasia	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4
HP:0000685	HP:0011074	Localized hypoplasia of dental enamel	2	CL E G H
HP:0000685	HP:0006282	Generalized hypoplasia of dental enamel	2	CL E G H