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:
Abnormality of dental eruption (HP:0006292)

Parent Node:
Advanced eruption of teeth (HP:0006288)

..Starting node
..Natal tooth (HP:0000695)

Term ID:

695

Name:

Natal tooth

Synonym:

Born with teeth; Natal teeth; Neonatal teeth; Teeth present at birth

Definition:

A tooth present at birth or erupting within the first month of life.

Comments:

Reference:

HP:0000695

Genes and Diseases:

Child Nodes:

Sister Nodes:

Premature eruption of permanent teeth (HP:0006337)

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:0000695	HP:0000695	Natal tooth	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000695	HP:0000695	Natal tooth	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0000695	HP:0000695	Natal tooth	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000695	HP:0000695	Natal tooth	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0000695	HP:0000695	Natal tooth	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000695	HP:0000695	Natal tooth	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0000695	HP:0000695	Natal tooth	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0000695	HP:0000695	Natal tooth	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0000695	HP:0000695	Natal tooth	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0000695	HP:0000695	Natal tooth	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000695	HP:0000695	Natal tooth	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0000695	HP:0000695	Natal tooth	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0000695	HP:0000695	Natal tooth	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0000695	HP:0000695	Natal tooth	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0000695	HP:0000695	Natal tooth	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0000695	HP:0000695	Natal tooth	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0000695	HP:0000695	Natal tooth	0	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction	HP:0040281 - Very frequent	493
HP:0000695	HP:0000695	Natal tooth	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000695	HP:0000695	Natal tooth	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000695	HP:0000695	Natal tooth	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000695	HP:0000695	Natal tooth	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000695	HP:0000695	Natal tooth	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0000695	HP:0000695	Natal tooth	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	HP:0040283 - Occasional	1
HP:0000695	HP:0000695	Natal tooth	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000695	HP:0000695	Natal tooth	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0000695	HP:0000695	Natal tooth	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	27
HP:0000695	HP:0000695	Natal tooth	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	23
HP:0000695	HP:0000695	Natal tooth	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0000695	HP:0000695	Natal tooth	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	41
HP:0000695	HP:0000695	Natal tooth	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	4
HP:0000695	HP:0000695	Natal tooth	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0000695	HP:0000695	Natal tooth	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040284 - Very rare	57
HP:0000695	HP:0000695	Natal tooth	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000695	HP:0000695	Natal tooth	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040284 - Very rare	101
HP:0000695	HP:0000695	Natal tooth	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000695	HP:0000695	Natal tooth	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000695	HP:0000695	Natal tooth	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0000695	HP:0000695	Natal tooth	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040282 - Frequent	58
HP:0000695	HP:0000695	Natal tooth	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0000695	HP:0000695	Natal tooth	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000695	HP:0000695	Natal tooth	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0000695	HP:0000695	Natal tooth	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (35) :AMER1 BCL11B C2CD3 CEP120 CILK1 CREBBP DSP EHMT1 EP300 EVC EVC2 FAM20C FGFR2 FLNA GLI3 GTF2H5 INTU JUP KDF1 KDM6A KMT2C KRT16 KRT17 KRT6A KRT6B LMNA MID1 MKS1 NEK1 POLR3A POLR3B PTH1R SPECC1L VARS1 ZMPSTE24

Diseases (35) :OMIM:300373 OMIM:617237 OMIM:615948 OMIM:616300 OMIM:612651 ORPHA:353281 ORPHA:353277 OMIM:609638 ORPHA:158687 OMIM:610253 ORPHA:261652 ORPHA:353284 OMIM:225500 OMIM:259775 ORPHA:313855 ORPHA:99811 ORPHA:672 OMIM:146510 OMIM:616395 OMIM:617925 OMIM:617337 OMIM:300867 ORPHA:2309 OMIM:167210 ORPHA:1662 ORPHA:2745 OMIM:249000 ORPHA:2751 OMIM:264090 ORPHA:3455 OMIM:614381 ORPHA:50945 OMIM:145420 OMIM:617802 OMIM:275210

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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