Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of connective tissue (HP:0003549)

Parent Node:
Abnormality of the skeletal system (HP:0000924)

..Starting node
..Abnormal odontoid tissue morphology (HP:3000050)

Term ID:

3000050

Name:

Abnormal odontoid tissue morphology

Synonym:

Abnormality of hard tissues of teeth; Abnormality of odontoid tissue; Abnormality of tooth hard tissue

Definition:

An abnormality of an odontoid tissue.

Comments:

Reference:

HP:3000050

Genes and Diseases:

Child Nodes:

........

Abnormality of dental enamel (HP:0000682)

................... HP:0000683 Grayish enamel
................... HP:0000705 Amelogenesis imperfecta
................... HP:0006285 Hypomineralization of enamel
................... HP:0006297 Hypoplasia of dental enamel
................... HP:0009722 Dental enamel pits

........

Dentinogenesis imperfecta (HP:0000703)

................... HP:0000694 Shell teeth
................... HP:0011060 Dentinogenesis imperfecta limited to primary teeth
................... HP:0011086 Dentinogenesis imperfecta of primary and permanent teeth

........

Abnormality of the cementum (HP:0100717)

Sister Nodes:

Abnormal musculoskeletal physiology (HP:0011843)

Abnormal nasal skeleton morphology (HP:0010937)

Abnormal skeletal morphology (HP:0011842)

Abnormality of limb bone (HP:0040068)

Ectopic calcification (HP:0010766)

obsolete Abnormality of the periosteum (HP:0040166)

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:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J		7
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2		530
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome		87
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE		17
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome		168
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome		1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1		636
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome		20
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome		161
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome		146
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1		15
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis		11
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome		11
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement		42
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis		3
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome		61
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa		129
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I		373
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV		373
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV		243
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome		48
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1		38
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II		38
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DSPP CL E G H	1834	3054	OMIM:125490	Dentinogenesis imperfecta 1		38
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III		38
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome		3
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB		50
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC		50
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1		33
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome		16
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III		22
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome		18
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI		61
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM		101
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6		3
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome		33
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis		14
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis		196
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis		4
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1		6
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA		167
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature		12
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2		37
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1		516
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2		516
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome		1952
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8		1
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4		6
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9		19
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome		2
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1		352
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome		531
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2		40
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1		169
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2		98
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome		11
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome		68
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome		57
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome		57
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	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:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome		5
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2		5
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome		73
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta		73
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5		4
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis		68
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SP6 CL E G H	80320	14530	OMIM:620104
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10		31
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis		82
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis		72
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis		4
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome		2
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia		133
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1		173
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1		78
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2		777
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3		137
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2		155
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:3000050	HP:3000050	Abnormal odontoid tissue morphology	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:3000050	HP:0100717	Abnormal cementum morphology	1	CL E G H
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J		7
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	530
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040283 - Occasional	87
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE		17
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia		435
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	636
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	15
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis		11
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040283 - Occasional	11
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement		42
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	3
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent	61
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa		129
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	HP:0040283 - Occasional	373
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome		48
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.	38
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II		38
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	DSPP CL E G H	1834	3054	OMIM:125490	Dentinogenesis imperfecta 1	.	38
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III		38
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III		38
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia		115
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia		56
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040283 - Occasional	3
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB		50
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC		50
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	33
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent	16
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III		22
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent	18
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia		172
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.	61
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent	68
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC		101
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM		101
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6		3
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome		33
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	93
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	11
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	4
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	14
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	196
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia		99
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		79
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia		124
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1	.	6
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome	HP:0040281 - Very frequent	110
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		116
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA		167
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		167
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type		135
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent	8
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia		26
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature		12
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2	.	37
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia		12
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	516
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	516
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040283 - Occasional	4
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent	1952
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8		1
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4		6
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9		19
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	2
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia		58
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	352
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	40
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	169
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1		169
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent	98
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2		98
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent	43
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040282 - Frequent	759
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.	39
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	57
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome		57
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:3000050	HP:0000682	Abnormal dental enamel morphology	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:3000050	HP:0000682	Abnormal dental enamel morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	5
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	73
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta		73
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5		4
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	68
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SP6 CL E G H	80320	14530	OMIM:620104
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10		31
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia		8
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040282 - Frequent	52
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	82
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	72
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent	140
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional	4
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040281 - Very frequent	133
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia		133
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	173
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040283 - Occasional	78
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	777
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	95
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional	136
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3		137
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional	155
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia		71
HP:3000050	HP:0000682	Abnormal dental enamel morphology	1	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia		4
HP:3000050	HP:0000703	Dentinogenesis imperfecta	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:3000050	HP:0033786	Hypomature enamel	2	CL E G H
HP:3000050	HP:0033776	Enamel pearls	2	CL E G H
HP:3000050	HP:0011086	Dentinogenesis imperfecta of primary and permanent teeth	2	CL E G H
HP:3000050	HP:0033788	Cementum overgrowth	2	CL E G H
HP:3000050	HP:0033787	Cementum hypoplasia	2	CL E G H
HP:3000050	HP:0006297	Enamel hypoplasia	2	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J		7
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J		7
HP:3000050	HP:0006297	Enamel hypoplasia	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:3000050	HP:0006297	Enamel hypoplasia	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.	87
HP:3000050	HP:0009722	Dental enamel pits	2	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:3000050	HP:0006297	Enamel hypoplasia	2	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE	.	17
HP:3000050	HP:0006297	Enamel hypoplasia	2	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE	.	17
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:3000050	HP:0006285	Enamel hypomineralization	2	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:3000050	HP:0006297	Enamel hypoplasia	2	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	.	168
HP:3000050	HP:0006297	Enamel hypoplasia	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:3000050	HP:0006297	Enamel hypoplasia	2	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:3000050	HP:0006297	Enamel hypoplasia	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:3000050	HP:0006297	Enamel hypoplasia	2	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.	11
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	HP:0040284 - Very rare	42
HP:3000050	HP:0033785	Enamel agenesis	2	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent	61
HP:3000050	HP:0006297	Enamel hypoplasia	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:3000050	HP:0006297	Enamel hypoplasia	2	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:3000050	HP:0006297	Enamel hypoplasia	2	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.	71
HP:3000050	HP:0009722	Dental enamel pits	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:3000050	HP:0006297	Enamel hypoplasia	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:3000050	HP:0006297	Enamel hypoplasia	2	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:3000050	HP:0009722	Dental enamel pits	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:3000050	HP:0006297	Enamel hypoplasia	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:3000050	HP:0006297	Enamel hypoplasia	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:3000050	HP:0006297	Enamel hypoplasia	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.	291
HP:3000050	HP:0006297	Enamel hypoplasia	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:3000050	HP:0006297	Enamel hypoplasia	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	41
HP:3000050	HP:0006297	Enamel hypoplasia	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:3000050	HP:0006297	Enamel hypoplasia	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040283 - Occasional	5
HP:3000050	HP:0006297	Enamel hypoplasia	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:3000050	HP:0006297	Enamel hypoplasia	2	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:3000050	HP:0006285	Enamel hypomineralization	2	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48
HP:3000050	HP:0009722	Dental enamel pits	2	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:3000050	HP:0006297	Enamel hypoplasia	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:3000050	HP:0011060	Dentinogenesis imperfecta limited to primary teeth	2	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II	.	38
HP:3000050	HP:0000694	Odontodysplasia	2	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III	.	38
HP:3000050	HP:0009722	Dental enamel pits	2	DSPP CL E G H	1834	3054	OMIM:125500	Dentinogenesis imperfecta, shields type III		38
HP:3000050	HP:0006297	Enamel hypoplasia	2	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:3000050	HP:0006297	Enamel hypoplasia	2	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB	.	50
HP:3000050	HP:0006285	Enamel hypomineralization	2	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC	.	50
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC	.	50
HP:3000050	HP:0006297	Enamel hypoplasia	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.	250
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:3000050	HP:0006297	Enamel hypoplasia	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent	16
HP:3000050	HP:0006297	Enamel hypoplasia	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III	.	22
HP:3000050	HP:0006297	Enamel hypoplasia	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:3000050	HP:0006297	Enamel hypoplasia	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:3000050	HP:0006297	Enamel hypoplasia	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:3000050	HP:0006297	Enamel hypoplasia	2	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:3000050	HP:0006297	Enamel hypoplasia	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:3000050	HP:0006297	Enamel hypoplasia	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:3000050	HP:0006297	Enamel hypoplasia	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:3000050	HP:0006297	Enamel hypoplasia	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:3000050	HP:0006297	Enamel hypoplasia	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:3000050	HP:0000683	Grayish enamel	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:3000050	HP:0006297	Enamel hypoplasia	2	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:3000050	HP:0006297	Enamel hypoplasia	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:3000050	HP:0000683	Grayish enamel	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:3000050	HP:0006297	Enamel hypoplasia	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:3000050	HP:0006297	Enamel hypoplasia	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent	101
HP:3000050	HP:0006297	Enamel hypoplasia	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:3000050	HP:0006297	Enamel hypoplasia	2	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:3000050	HP:0006297	Enamel hypoplasia	2	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:3000050	HP:0006297	Enamel hypoplasia	2	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.	101
HP:3000050	HP:0006297	Enamel hypoplasia	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:3000050	HP:0006285	Enamel hypomineralization	2	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6		3
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6		3
HP:3000050	HP:0006297	Enamel hypoplasia	2	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.	33
HP:3000050	HP:0006297	Enamel hypoplasia	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:3000050	HP:0006297	Enamel hypoplasia	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:3000050	HP:0006297	Enamel hypoplasia	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:3000050	HP:0006297	Enamel hypoplasia	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:3000050	HP:0006297	Enamel hypoplasia	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:3000050	HP:0006297	Enamel hypoplasia	2	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:3000050	HP:0006297	Enamel hypoplasia	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:3000050	HP:0006297	Enamel hypoplasia	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:3000050	HP:0006297	Enamel hypoplasia	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:3000050	HP:0006297	Enamel hypoplasia	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:3000050	HP:0006297	Enamel hypoplasia	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:3000050	HP:0009722	Dental enamel pits	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124
HP:3000050	HP:0006297	Enamel hypoplasia	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:3000050	HP:0009722	Dental enamel pits	2	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:3000050	HP:0006297	Enamel hypoplasia	2	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:3000050	HP:0006297	Enamel hypoplasia	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1	.	6
HP:3000050	HP:0006297	Enamel hypoplasia	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	110
HP:3000050	HP:0006297	Enamel hypoplasia	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:3000050	HP:0006297	Enamel hypoplasia	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	173
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.	116
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA	.	167
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:3000050	HP:0006297	Enamel hypoplasia	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:3000050	HP:0006297	Enamel hypoplasia	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:3000050	HP:0006297	Enamel hypoplasia	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:3000050	HP:0006297	Enamel hypoplasia	2	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:3000050	HP:0006297	Enamel hypoplasia	2	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:3000050	HP:0006297	Enamel hypoplasia	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2	.	37
HP:3000050	HP:0006297	Enamel hypoplasia	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:3000050	HP:0006297	Enamel hypoplasia	2	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:3000050	HP:0006297	Enamel hypoplasia	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:3000050	HP:0006297	Enamel hypoplasia	2	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent	1952
HP:3000050	HP:0006297	Enamel hypoplasia	2	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.	1
HP:3000050	HP:0006297	Enamel hypoplasia	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:3000050	HP:0006297	Enamel hypoplasia	2	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4	.	6
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4	.	6
HP:3000050	HP:0006285	Enamel hypomineralization	2	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4	.	6
HP:3000050	HP:0006297	Enamel hypoplasia	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.	19
HP:3000050	HP:0006297	Enamel hypoplasia	2	PAK2 CL E G H	5062	8591	OMIM:618458
HP:3000050	HP:0006297	Enamel hypoplasia	2	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:3000050	HP:0006297	Enamel hypoplasia	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:3000050	HP:0006297	Enamel hypoplasia	2	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.	169
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.	169
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2		98
HP:3000050	HP:0006297	Enamel hypoplasia	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:3000050	HP:0006285	Enamel hypomineralization	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:3000050	HP:0000694	Odontodysplasia	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217
HP:3000050	HP:0006297	Enamel hypoplasia	2	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:3000050	HP:0006297	Enamel hypoplasia	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:3000050	HP:0006297	Enamel hypoplasia	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:3000050	HP:0006297	Enamel hypoplasia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:3000050	HP:0033785	Enamel agenesis	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:3000050	HP:0006285	Enamel hypomineralization	2	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:3000050	HP:0006297	Enamel hypoplasia	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:3000050	HP:0006297	Enamel hypoplasia	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	57
HP:3000050	HP:0006297	Enamel hypoplasia	2	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:3000050	HP:0006297	Enamel hypoplasia	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:3000050	HP:0006297	Enamel hypoplasia	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:3000050	HP:0006297	Enamel hypoplasia	2	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:3000050	HP:0000705	Amelogenesis imperfecta	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	73
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.	73
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5	.	4
HP:3000050	HP:0006297	Enamel hypoplasia	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:3000050	HP:0006297	Enamel hypoplasia	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:3000050	HP:0006297	Enamel hypoplasia	2	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	SP6 CL E G H	80320	14530	OMIM:620104
HP:3000050	HP:0006297	Enamel hypoplasia	2	SP6 CL E G H	80320	14530	OMIM:620104
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.	31
HP:3000050	HP:0006297	Enamel hypoplasia	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent	86
HP:3000050	HP:0006297	Enamel hypoplasia	2	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:3000050	HP:0006297	Enamel hypoplasia	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:3000050	HP:0006297	Enamel hypoplasia	2	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	HP:0040283 - Occasional	24
HP:3000050	HP:0006297	Enamel hypoplasia	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:3000050	HP:0006297	Enamel hypoplasia	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:3000050	HP:0009722	Dental enamel pits	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:3000050	HP:0006297	Enamel hypoplasia	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040284 - Very rare	26
HP:3000050	HP:0006297	Enamel hypoplasia	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:3000050	HP:0006285	Enamel hypomineralization	2	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3	.	137
HP:3000050	HP:0000705	Amelogenesis imperfecta	2	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3	.	137
HP:3000050	HP:0006297	Enamel hypoplasia	2	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:3000050	HP:0006297	Enamel hypoplasia	2	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4
HP:3000050	HP:0011074	Localized hypoplasia of dental enamel	3	CL E G H
HP:3000050	HP:0006282	Generalized hypoplasia of dental enamel	3	CL E G H
HP:3000050	HP:0011084	Hypocalcification of dental enamel	3	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:3000050	HP:0011085	Hypomature dental enamel	3	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3	.	137

Genes (221) :ACP4 ADGRV1 AIRE AKT1 ALDH3A2 AMBN AMELX AMTN ANAPC1 APC ARVCF ATR ATRIP AXIN2 B3GALT6 BAZ1B BCL7B BUD23 CARS1 CCDC8 CDH23 CENPE CENPJ CEP152 CIB2 CLDN1 CLDN19 CLEC7A CLIP2 CNNM4 COG6 COL17A1 COL1A1 COL1A2 COL7A1 COMT COX7B CREBBP CTSK CUL7 CYP27B1 CYP2R1 DDX59 DHCR7 DLX3 DNAJC21 DNAJC30 DSPP EDA EDARADD EIF4H ELMO2 ELN ENAM EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ESPN FAM20A FAM20C FAM83H FBXO28 FERMT1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FKBP10 FKBP6 FLNB GALNS GALNT3 GJA1 GLB1 GNAS GNB2 GP1BB GPR68 GRHL2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HCCS HIRA HLA-DQA1 HLA-DQB1 HRAS IFT122 IFT43 IFT52 IKBKG IL17F IL17RA IL17RC IRF6 IRX5 ITGA6 ITGB4 ITGB6 JMJD1C KCNJ2 KLK4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIMK1 LMX1B LONP1 LRP4 LRP6 LTBP3 MBTPS2 METTL27 MIA3 MLXIPL MMP1 MMP20 MPLKIP MSX1 MYO7A NCF1 NDUFB11 NECTIN1 NECTIN4 NF1 NUP133 NUP85 OBSL1 OCRL ODAPH OFD1 ORAI1 P4HB PAK2 PAX9 PCDH15 PCNT PDE4D PDZD7 PEX1 PEX6 PGAP1 PHEX PIK3C2A PIK3R1 PLEC PLK4 POLR1B POLR1C POLR1D PORCN PPIB PTDSS1 PTEN RAD21 RBBP8 RECQL4 RELT RFC2 RHOA RNF113A ROGDI RREB1 RUNX2 SATB1 SCUBE3 SEC24C SEC24D SERPINH1 SLC10A7 SLC13A5 SLC24A4 SLC29A3 SLC35A2 SMARCA2 SMARCD2 SMOC2 SP6 STIM1 STX16 STX1A SUMO1 TARS1 TBCE TBL2 TBX1 TCIRG1 TCOF1 TGFA TMEM165 TMEM270 TNFRSF11A TP63 TRAF3IP2 TRAIP TRIM37 TRIP11 TSC1 TTC7A UFD1 USH1C USH1G USH2A VDR VPS37D WDR19 WDR35 WDR72 WHRN WNT10A WNT10B ZNF469

Diseases (177) :OMIM:617297 ORPHA:231178 OMIM:240300 ORPHA:744 ORPHA:816 OMIM:270200 OMIM:616270 OMIM:301200 OMIM:617607 ORPHA:221008 ORPHA:3258 ORPHA:567 OMIM:614564 ORPHA:808 OMIM:210600 ORPHA:99798 ORPHA:536467 ORPHA:904 ORPHA:33364 ORPHA:2616 ORPHA:231169 OMIM:607626 ORPHA:59303 OMIM:248190 ORPHA:1334 OMIM:217080 ORPHA:1873 OMIM:614576 ORPHA:363523 OMIM:615328 OMIM:619787 ORPHA:79402 ORPHA:79406 ORPHA:251393 OMIM:166200 OMIM:259420 OMIM:166220 OMIM:226600 ORPHA:2556 OMIM:180849 ORPHA:763 ORPHA:289157 OMIM:264700 ORPHA:2919 ORPHA:818 OMIM:104510 ORPHA:3352 OMIM:617052 OMIM:605594 OMIM:125420 OMIM:125490 OMIM:125500 ORPHA:3019 OMIM:104500 OMIM:204650 ORPHA:90322 ORPHA:90321 OMIM:610965 ORPHA:90324 OMIM:216400 ORPHA:1031 OMIM:204690 OMIM:259775 OMIM:130900 OMIM:619777 ORPHA:2908 OMIM:149730 ORPHA:2363 ORPHA:2791 OMIM:610968 OMIM:272460 OMIM:253000 OMIM:211900 OMIM:164200 ORPHA:2710 OMIM:257850 ORPHA:79255 OMIM:253010 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:619503 OMIM:617217 OMIM:616029 OMIM:212750 ORPHA:3071 ORPHA:1515 OMIM:218330 ORPHA:464 OMIM:611174 ORPHA:79403 OMIM:226730 OMIM:616221 OMIM:170390 OMIM:204700 ORPHA:79396 ORPHA:69087 OMIM:226700 OMIM:245660 ORPHA:79404 OMIM:104530 OMIM:226650 ORPHA:2614 ORPHA:1458 OMIM:600373 OMIM:212780 OMIM:601216 ORPHA:2273 OMIM:619269 OMIM:612529 ORPHA:3253 OMIM:613573 ORPHA:139474 OMIM:618349 OMIM:309000 ORPHA:534 OMIM:614832 OMIM:311200 ORPHA:2750 OMIM:612782 ORPHA:2050 OMIM:112240 OMIM:618458 OMIM:210720 ORPHA:439822 ORPHA:3220 OMIM:234580 OMIM:616617 OMIM:615802 OMIM:307800 ORPHA:89936 ORPHA:557003 ORPHA:3163 ORPHA:257 OMIM:226670 ORPHA:861 OMIM:305600 ORPHA:2092 OMIM:259440 ORPHA:2658 OMIM:614701 ORPHA:221016 OMIM:618386 OMIM:618727 ORPHA:1946 OMIM:226750 ORPHA:1452 OMIM:119600 OMIM:619229 OMIM:619184 OMIM:616294 OMIM:613848 OMIM:618363 OMIM:615905 OMIM:615887 ORPHA:1782 OMIM:300896 OMIM:619293 OMIM:617475 OMIM:125400 OMIM:620104 OMIM:612783 ORPHA:2323 OMIM:614727 ORPHA:1896 OMIM:129400 OMIM:253250 ORPHA:166272 OMIM:184260 OMIM:191100 OMIM:243150 OMIM:277440 OMIM:613211 OMIM:229200

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

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