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 number of teeth (HP:0006483)

Grandparent Node:
Abnormality of the incisor (HP:0000676)

Parent Node:
Abnormal number of incisors (HP:0011064)

..Starting node
..Solitary median maxillary central incisor (HP:0006315)

Term ID:

6315

Name:

Solitary median maxillary central incisor

Synonym:

Only one upper front tooth; Single central incisor; Single central upper incisor; Single maxillary central incisor; Single median incisor; Single median maxillary incisor; Single midline maxillary incisor; Single midline upper front tooth; Solitary median maxillary central incisor; Solitary median maxillary central incisor syndrome; Solitary midline maxillary central incisor

Definition:

A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.

Comments:

Reference:

HP:0006315

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agenesis of incisor (HP:0006485)

Supernumerary maxillary incisor (HP:0006332)

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:0006315	HP:0006315	Solitary median maxillary central incisor	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	200
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	200
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	22
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	22
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	3
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	3
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	EVC CL E G H	2121	3497	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	209
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	EVC CL E G H	2121	3497	OMIM:193530	Weyers acrofacial dysostosis	.	209
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	EVC2 CL E G H	132884	19747	ORPHA:952	Acrofacial dysostosis, Weyers type	HP:0040281 - Very frequent	137
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	EVC2 CL E G H	132884	19747	OMIM:193530	Weyers acrofacial dysostosis	.	137
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	17
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	17
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	172
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	172
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	48
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	48
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	2
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	2
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	173
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	173
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	45
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	45
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	665
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	665
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	67
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	67
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	99
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	124
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	1
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	1
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	34
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040281 - Very frequent	34
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0006315	HP:0006315	Solitary median maxillary central incisor	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34

Genes (27) :ANKRD11 BCOR CDON CNOT1 DISP1 DLL1 EVC EVC2 FGF8 FGFR1 FOXH1 GAS1 GLI2 MID1 NODAL PLCH1 PTCH1 SHH SIX3 SMAD2 SMC1A STAG2 STIL SUFU TDGF1 TGIF1 ZIC2

Diseases (19) :ORPHA:261250 ORPHA:2712 ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 ORPHA:556955 ORPHA:952 OMIM:193530 OMIM:610829 OMIM:300000 OMIM:610828 OMIM:142945 OMIM:147250 OMIM:157170 OMIM:619657 OMIM:301044 OMIM:301043

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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