Human Phenotype Ontology

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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 number of teeth (HP:0006483)

Parent Node:
Tooth agenesis (HP:0009804)

..Starting node
..Oligodontia (HP:0000677)

Term ID:

677

Name:

Oligodontia

Synonym:

Failure of development of more than six teeth; Missing more than six teeth; Number of teeth decreased by more than six; Partial anodontia

Definition:

The absence of six or more teeth from the normal series by a failurento develop.

Comments:

Reference:

HP:0000677

Genes and Diseases:

Child Nodes:

........

Oligodontia of primary teeth (HP:0012225)

Sister Nodes:

Agenesis of permanent teeth (HP:0006349)

Anodontia (HP:0000674)

Hypodontia (HP:0000668)

Selective tooth agenesis (HP:0001592)

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:0000677	HP:0000677	Oligodontia	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0000677	HP:0000677	Oligodontia	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000677	HP:0000677	Oligodontia	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040282 - Frequent	5
HP:0000677	HP:0000677	Oligodontia	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	435
HP:0000677	HP:0000677	Oligodontia	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0000677	HP:0000677	Oligodontia	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0000677	HP:0000677	Oligodontia	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000677	HP:0000677	Oligodontia	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0000677	HP:0000677	Oligodontia	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000677	HP:0000677	Oligodontia	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	.	146
HP:0000677	HP:0000677	Oligodontia	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0000677	HP:0000677	Oligodontia	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.	11
HP:0000677	HP:0000677	Oligodontia	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040283 - Occasional	11
HP:0000677	HP:0000677	Oligodontia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000677	HP:0000677	Oligodontia	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000677	HP:0000677	Oligodontia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000677	HP:0000677	Oligodontia	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	115
HP:0000677	HP:0000677	Oligodontia	0	EDA CL E G H	1896	3157	OMIM:313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1		115
HP:0000677	HP:0000677	Oligodontia	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0000677	HP:0000677	Oligodontia	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0000677	HP:0000677	Oligodontia	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	56
HP:0000677	HP:0000677	Oligodontia	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	172
HP:0000677	HP:0000677	Oligodontia	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0000677	HP:0000677	Oligodontia	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0000677	HP:0000677	Oligodontia	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0000677	HP:0000677	Oligodontia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000677	HP:0000677	Oligodontia	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0000677	HP:0000677	Oligodontia	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000677	HP:0000677	Oligodontia	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0000677	HP:0000677	Oligodontia	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	99
HP:0000677	HP:0000677	Oligodontia	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000677	HP:0000677	Oligodontia	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0000677	HP:0000677	Oligodontia	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0000677	HP:0000677	Oligodontia	0	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	.	1
HP:0000677	HP:0000677	Oligodontia	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	26
HP:0000677	HP:0000677	Oligodontia	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:0000677	HP:0000677	Oligodontia	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0000677	HP:0000677	Oligodontia	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0000677	HP:0000677	Oligodontia	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	12
HP:0000677	HP:0000677	Oligodontia	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000677	HP:0000677	Oligodontia	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	58
HP:0000677	HP:0000677	Oligodontia	0	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3	.	58
HP:0000677	HP:0000677	Oligodontia	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000677	HP:0000677	Oligodontia	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000677	HP:0000677	Oligodontia	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0000677	HP:0000677	Oligodontia	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0000677	HP:0000677	Oligodontia	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0000677	HP:0000677	Oligodontia	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0000677	HP:0000677	Oligodontia	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	HP:0040283 - Occasional	67
HP:0000677	HP:0000677	Oligodontia	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000677	HP:0000677	Oligodontia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000677	HP:0000677	Oligodontia	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0000677	HP:0000677	Oligodontia	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000677	HP:0000677	Oligodontia	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0000677	HP:0000677	Oligodontia	0	PTHLH CL E G H	5744	9607	OMIM:613382	Brachydactyly, type E2	HP:0040283 - Occasional	6
HP:0000677	HP:0000677	Oligodontia	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000677	HP:0000677	Oligodontia	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0000677	HP:0000677	Oligodontia	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0000677	HP:0000677	Oligodontia	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000677	HP:0000677	Oligodontia	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:0000677	HP:0000677	Oligodontia	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040282 - Frequent	177
HP:0000677	HP:0000677	Oligodontia	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism	.	177
HP:0000677	HP:0000677	Oligodontia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000677	HP:0000677	Oligodontia	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0000677	HP:0000677	Oligodontia	0	SMOC2 CL E G H	64094	20323	OMIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth		4
HP:0000677	HP:0000677	Oligodontia	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0000677	HP:0000677	Oligodontia	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	8
HP:0000677	HP:0000677	Oligodontia	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040280 - Obligate
HP:0000677	HP:0000677	Oligodontia	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0000677	HP:0000677	Oligodontia	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000677	HP:0000677	Oligodontia	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000677	HP:0000677	Oligodontia	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent	25
HP:0000677	HP:0000677	Oligodontia	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	71
HP:0000677	HP:0000677	Oligodontia	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040280 - Obligate	4
HP:0000677	HP:0000677	Oligodontia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0000677	HP:0012225	Oligodontia of primary teeth	1	CL E G H

Genes (57) :ANKRD11 ATP6V1B2 AXIN2 BCL11B BCOR CCBE1 CEP152 CHSY1 CLDN1 DVL1 DVL3 EDA EDAR EDARADD FGFR1 FLNA FZD2 HNRNPK HUWE1 IKBKG IRF6 KCNJ2 KCNJ5 KREMEN1 LRP6 LTBP3 MAF MAP3K7 MSX1 NEPRO PAX9 PIK3C2A PITX2 POLR3A POLR3B POLR3GL PORCN PPP1R15B PTH1R PTHLH RHOA RPS6KA3 SATB2 SCUBE3 SH3BP2 SLC25A24 SMOC2 SRCAP SUMO1 TGFA TP63 TRIO TRMT10A UBR1 WNT10A WNT10B WNT5A

Diseases (56) :ORPHA:2332 OMIM:148050 ORPHA:79499 ORPHA:99798 OMIM:608615 OMIM:618092 OMIM:300166 ORPHA:2712 OMIM:235510 OMIM:613823 ORPHA:363417 OMIM:607626 ORPHA:59303 ORPHA:3107 OMIM:616331 OMIM:313500 OMIM:224900 ORPHA:1826 ORPHA:90650 ORPHA:90652 OMIM:616580 OMIM:309590 OMIM:308300 OMIM:170390 ORPHA:37553 OMIM:617392 OMIM:601216 ORPHA:1272 OMIM:618853 OMIM:604625 ORPHA:557003 OMIM:618440 OMIM:180500 OMIM:607694 ORPHA:447896 OMIM:614381 OMIM:619234 OMIM:305600 OMIM:616817 ORPHA:391408 OMIM:600002 OMIM:613382 OMIM:618727 ORPHA:276630 ORPHA:251019 OMIM:612313 OMIM:619184 ORPHA:184 OMIM:118400 OMIM:612289 ORPHA:2095 OMIM:125400 ORPHA:2044 OMIM:103285 OMIM:617061 ORPHA:2315

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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