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:
Abnormal odontoid tissue morphology (HP:3000050)

Grandparent Node:
Abnormality of dental structure (HP:0011061)

Parent Node:
Abnormal dental enamel morphology (HP:0000682)

..Starting node
..Amelogenesis imperfecta (HP:0000705)

Term ID:

705

Name:

Amelogenesis imperfecta

Synonym:

Definition:

A developmental dysplasia of the dental enamel.

Comments:

Reference:

HP:0000705

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dental enamel pits (HP:0009722)

Enamel hypomineralization (HP:0006285)

Enamel hypoplasia (HP:0006297)

Grayish enamel (HP:0000683)

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:0000705	HP:0000705	Amelogenesis imperfecta	0	ACP4 CL E G H	93650	14376	OMIM:617297	AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J		7
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	AMELX CL E G H	265	461	OMIM:301200	Amelogenesis imperfecta, type IE	.	17
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	HP:0040284 - Very rare	42
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent	61
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	DLX3 CL E G H	1747	2916	OMIM:104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4		48
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	ENAM CL E G H	10117	3344	OMIM:104500	Amelogenesis imperfecta, type IB	.	50
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	ENAM CL E G H	10117	3344	OMIM:204650	Amelogenesis imperfecta, type IC	.	50
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.	16
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	FAM20A CL E G H	54757	23015	ORPHA:1031	Enamel-renal syndrome	HP:0040281 - Very frequent	16
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	FAM83H CL E G H	286077	24797	OMIM:130900	Amelogenesis imperfecta, type III	.	22
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	GPR68 CL E G H	8111	4519	OMIM:617217	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6		3
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	ITGB6 CL E G H	3694	6161	OMIM:616221	AMELOGENESIS IMPERFECTA, TYPE IH; AI1H		8
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	KLK4 CL E G H	9622	6365	OMIM:204700	Amelogenesis imperfecta, hypomaturation type, iia1	.	6
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.	116
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA	.	167
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	MMP20 CL E G H	9313	7167	OMIM:612529	Amelogenesis imperfecta, hypomaturation type, iia2	.	37
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	ODAPH CL E G H	152816	26300	OMIM:614832	Amelogenesis imperfecta, hypomaturation type, iia4	.	6
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.	19
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	PEX1 CL E G H	5189	8850	OMIM:234580	Heimler syndrome 1	.	169
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	PEX6 CL E G H	5190	8859	OMIM:616617	Heimler syndrome 2		98
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	RELT CL E G H	84957	13764	OMIM:618386	Amelogenesis imperfecta, type IIIC
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	57
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040281 - Very frequent	73
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.	73
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	SLC24A4 CL E G H	123041	10978	OMIM:615887	Amelogenesis imperfecta, hypomaturation type, iia5	.	4
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	SP6 CL E G H	80320	14530	OMIM:620104
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.	31
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	HP:0040283 - Occasional	24
HP:0000705	HP:0000705	Amelogenesis imperfecta	0	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3	.	137

Genes (33) :ACP4 AMBN AMELX AMTN CLDN19 CNNM4 DLX3 DNAJC21 ENAM FAM20A FAM83H GPR68 ITGB6 KLK4 LAMA3 LAMB3 LTBP3 MMP20 ODAPH ORAI1 PEX1 PEX6 RELT ROGDI SATB1 SLC10A7 SLC13A5 SLC24A4 SMARCD2 SP6 STIM1 TMEM165 WDR72

Diseases (36) :OMIM:617297 OMIM:616270 OMIM:301200 OMIM:617607 OMIM:248190 ORPHA:1873 OMIM:104510 OMIM:617052 OMIM:104500 OMIM:204650 OMIM:204690 ORPHA:1031 OMIM:130900 OMIM:617217 OMIM:616221 OMIM:204700 OMIM:245660 OMIM:104530 OMIM:601216 OMIM:612529 OMIM:614832 OMIM:612782 OMIM:234580 OMIM:616617 OMIM:618386 ORPHA:1946 OMIM:226750 OMIM:619229 OMIM:618363 OMIM:615905 OMIM:615887 OMIM:617475 OMIM:620104 OMIM:612783 OMIM:614727 OMIM:613211

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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