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 morphology (HP:0006482)

Parent Node:
Abnormal incisor morphology (HP:0011063)

Parent Node:
Macrodontia (HP:0001572)

..Starting node
..Incisor macrodontia (HP:0011081)

Term ID:

11081

Name:

Incisor macrodontia

Synonym:

Hyperplasia of incisor; Hypertrophy of incisor; Increased size of incisor; Increased width of incisor; Large incisor

Definition:

Increased size of the incisor tooth.

Comments:

Reference:

HP:0011081

Genes and Diseases:

Child Nodes:

........

Macrodontia of permanent maxillary central incisor (HP:0000675)

Sister Nodes:

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:0011081	HP:0011081	Incisor macrodontia	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0011081	HP:0011081	Incisor macrodontia	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0011081	HP:0011081	Incisor macrodontia	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0011081	HP:0011081	Incisor macrodontia	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0011081	HP:0011081	Incisor macrodontia	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0011081	HP:0011081	Incisor macrodontia	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0011081	HP:0011081	Incisor macrodontia	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0011081	HP:0011081	Incisor macrodontia	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0011081	HP:0011081	Incisor macrodontia	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0011081	HP:0011081	Incisor macrodontia	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0011081	HP:0011081	Incisor macrodontia	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0011081	HP:0011081	Incisor macrodontia	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0011081	HP:0011081	Incisor macrodontia	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0011081	HP:0011081	Incisor macrodontia	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0011081	HP:0011081	Incisor macrodontia	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent	7
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0011081	HP:0000675	Macrodontia of permanent maxillary central incisor	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546

Genes (13) :ABCC9 ATP6V1B2 BRF1 COL11A1 CTCF FARS2 GJA1 GRIA3 KCNK9 KCNMA1 PURA TBC1D24 VPS13B

Diseases (14) :OMIM:619719 ORPHA:79500 ORPHA:444072 OMIM:616202 OMIM:154780 ORPHA:363611 OMIM:615502 ORPHA:466722 OMIM:257850 ORPHA:364028 ORPHA:166108 OMIM:618729 ORPHA:438216 OMIM:216550

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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