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:
Abnormality of the tongue (HP:0000157)

Grandparent Node:
Neoplasm of the oral cavity (HP:0100649)

Parent Node:
Neoplasm of the tongue (HP:0100648)

..Starting node
..Hamartoma of tongue (HP:0011802)

Term ID:

11802

Name:

Hamartoma of tongue

Synonym:

Lingual hamartoma

Definition:

A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.

Comments:

Reference:

HP:0011802

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lipoma of the tongue (HP:0030815)

Squamous cell carcinoma of the tongue (HP:0030413)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0011802	HP:0011802	Hamartoma of tongue	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1	355	24564	615944
HP:0011802	HP:0011802	Hamartoma of tongue	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1	238	24564	615944
HP:0011802	HP:0011802	Hamartoma of tongue	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	824	25801	614571
HP:0011802	HP:0011802	Hamartoma of tongue	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	1239	25801	614571
HP:0011802	HP:0011802	Hamartoma of tongue	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	184	29110	617112
HP:0011802	HP:0011802	Hamartoma of tongue	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	122	29110	617112
HP:0011802	HP:0011802	Hamartoma of tongue	0	KIF7 CL E G H	374654	2754				ORPHA	1	540	30497	611254
HP:0011802	HP:0011802	Hamartoma of tongue	0	KIF7 CL E G H	374654	2754				ORPHA	1	813	30497	611254
HP:0011802	HP:0011802	Hamartoma of tongue	0	NEK1 CL E G H	4750	2751	Hunter Carpenter Macdonald syndrome			ORPHA	1	418	7744	604588
HP:0011802	HP:0011802	Hamartoma of tongue	0	NEK1 CL E G H	4750	2751	Hunter Carpenter Macdonald syndrome			ORPHA	1	473	7744	604588
HP:0011802	HP:0011802	Hamartoma of tongue	0	NEK1 CL E G H	4750	263520	Short rib-polydactyly syndrome, Majewski type	263520	C0024507	OMIM	1	473	7744	604588
HP:0011802	HP:0011802	Hamartoma of tongue	0	NEK1 CL E G H	4750	263520	Short rib-polydactyly syndrome, Majewski type	263520	C0024507	OMIM	1	418	7744	604588
HP:0011802	HP:0011802	Hamartoma of tongue	0	OFD1 CL E G H	8481	2754				ORPHA	1	723	2567	300170
HP:0011802	HP:0011802	Hamartoma of tongue	0	OFD1 CL E G H	8481	2750				ORPHA	1	723	2567	300170
HP:0011802	HP:0011802	Hamartoma of tongue	0	OFD1 CL E G H	8481	2754				ORPHA	1	647	2567	300170
HP:0011802	HP:0011802	Hamartoma of tongue	0	OFD1 CL E G H	8481	2750				ORPHA	1	647	2567	300170
HP:0011802	HP:0011802	Hamartoma of tongue	0	PDE6D CL E G H	5147	2754				ORPHA	1	41	8788	602676
HP:0011802	HP:0011802	Hamartoma of tongue	0	PDE6D CL E G H	5147	2754				ORPHA	1	57	8788	602676
HP:0011802	HP:0011802	Hamartoma of tongue	0	TCTN3 CL E G H	26123	2754				ORPHA	1	256	24519	613847
HP:0011802	HP:0011802	Hamartoma of tongue	0	TCTN3 CL E G H	26123	2754				ORPHA	1	148	24519	613847
HP:0011802	HP:0011802	Hamartoma of tongue	0	TCTN3 CL E G H	26123	258860	Orofacial-digital syndrome IV	258860	C0406727	OMIM	1	148	24519	613847
HP:0011802	HP:0011802	Hamartoma of tongue	0	TCTN3 CL E G H	26123	258860	Orofacial-digital syndrome IV	258860	C0406727	OMIM	1	256	24519	613847
HP:0011802	HP:0011802	Hamartoma of tongue	0	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	101	28128	616183
HP:0011802	HP:0011802	Hamartoma of tongue	0	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	161	28128	616183
HP:0011802	HP:0011802	Hamartoma of tongue	0	TMEM216 CL E G H	51259	2754				ORPHA	1	151	25018	613277
HP:0011802	HP:0011802	Hamartoma of tongue	0	TMEM216 CL E G H	51259	2754				ORPHA	1	168	25018	613277
HP:0011802	HP:0011802	Hamartoma of tongue	0	TMEM231 CL E G H	79583	2752				ORPHA	1	299	37234	614949
HP:0011802	HP:0011802	Hamartoma of tongue	0	TMEM231 CL E G H	79583	2752				ORPHA	1	209	37234	614949
HP:0011802	HP:0011802	Hamartoma of tongue	0	WDPCP CL E G H	51057	1338				ORPHA	1	275	28027	613580
HP:0011802	HP:0011802	Hamartoma of tongue	0	WDPCP CL E G H	51057	1338				ORPHA	1	367	28027	613580
HP:0011802	HP:0011802	Hamartoma of tongue	0	WDPCP CL E G H	51057	217085	Orstavik Lindemann Solberg syndrome	217085	C1857587	OMIM	1	367	28027	613580
HP:0011802	HP:0011802	Hamartoma of tongue	0	WDPCP CL E G H	51057	217085	Orstavik Lindemann Solberg syndrome	217085	C1857587	OMIM	1	275	28027	613580
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011802	HP:0011802	Hamartoma of tongue	0	DYNC2H1 CL E G H	79659	613091	Short-rib thoracic dysplasia 3 with or without polydactyly	613091	C2751311	OMIM	0	1203	2962	603297
HP:0011802	HP:0011802	Hamartoma of tongue	0	DYNC2H1 CL E G H	79659	613091	Short-rib thoracic dysplasia 3 with or without polydactyly	613091	C2751311	OMIM	0	1376	2962	603297
HP:0011802	HP:0011802	Hamartoma of tongue	0	EDN1 CL E G H	1906	137888				ORPHA	0	52	3176	131240
HP:0011802	HP:0011802	Hamartoma of tongue	0	EDN1 CL E G H	1906	137888				ORPHA	0	51	3176	131240
HP:0011802	HP:0011802	Hamartoma of tongue	0	GNAI3 CL E G H	2773	137888				ORPHA	0	36	4387	139370
HP:0011802	HP:0011802	Hamartoma of tongue	0	GNAI3 CL E G H	2773	137888				ORPHA	0	37	4387	139370
HP:0011802	HP:0011802	Hamartoma of tongue	0	INTU CL E G H	27152	617925	SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY	617925	CN902090	OMIM	0	79	29239	610621
HP:0011802	HP:0011802	Hamartoma of tongue	0	INTU CL E G H	27152	617925	SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY	617925	CN902090	OMIM	0	61	29239	610621
HP:0011802	HP:0011802	Hamartoma of tongue	0	PLCB4 CL E G H	5332	137888				ORPHA	0	217	9059	600810
HP:0011802	HP:0011802	Hamartoma of tongue	0	PLCB4 CL E G H	5332	137888				ORPHA	0	214	9059	600810

Genes (17) :C2CD3 CPLANE1 DYNC2H1 EDN1 GNAI3 INTU KIAA0753 KIF7 NEK1 OFD1 PDE6D PLCB4 TCTN3 TMEM107 TMEM216 TMEM231 WDPCP

Diseases (13) :615948 2754 613091 137888 617925 2751 263520 2750 258860 617563 2752 1338 217085

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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