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 aggressive, impulsive or violent behavior (HP:0006919)

Parent Node:
Self-injurious behavior (HP:0100716)

..Starting node
..Self-mutilation (HP:0000742)

Term ID:

742

Name:

Self-mutilation

Synonym:

Deliberate self-harm; Self mutilation; Self-mutilation

Definition:

Comments:

Reference:

HP:0000742

Genes and Diseases:

Child Nodes:

........

Self-mutilation of tongue and lips due to involuntary movements (HP:0008767)

Sister Nodes:

Hair-pulling (HP:0012167)

Head-banging (HP:0012168)

Self-biting (HP:0012169)

Skin-picking (HP:0012166)

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:0000742	HP:0000742	Self-mutilation	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0000742	HP:0000742	Self-mutilation	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	570	20893	300485
HP:0000742	HP:0000742	Self-mutilation	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0000742	HP:0000742	Self-mutilation	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	648	2860	602858
HP:0000742	HP:0000742	Self-mutilation	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0000742	HP:0000742	Self-mutilation	0	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	641	4868	605837
HP:0000742	HP:0000742	Self-mutilation	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	620	21474	613037
HP:0000742	HP:0000742	Self-mutilation	0	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	123	7045	602616
HP:0000742	HP:0000742	Self-mutilation	0	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	361	18704	300013
HP:0000742	HP:0000742	Self-mutilation	0	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	145	26742	610647
HP:0000742	HP:0000742	Self-mutilation	0	NDE1 CL E G H	54820	605013	Microhydranencephaly	605013	C1857977	OMIM	1	1483	17619	609449
HP:0000742	HP:0000742	Self-mutilation	0	NTRK1 CL E G H	4914	256800	Hereditary insensitivity to pain with anhidrosis	256800	C0020074	OMIM	1	981	8031	191315
HP:0000742	HP:0000742	Self-mutilation	0	PAH CL E G H	5053	261600	Phenylketonuria	261600	C0031485	OMIM	1	1316	8582	612349
HP:0000742	HP:0000742	Self-mutilation	0	RAI1 CL E G H	10743	182290	Smith-Magenis syndrome	182290	C0795864	OMIM	1	1149	9834	607642
HP:0000742	HP:0000742	Self-mutilation	0	SLC6A17 CL E G H	388662	616269	Mental retardation, autosomal recessive 48	616269	C4225395	OMIM	1	61	31399	610299
HP:0000742	HP:0000742	Self-mutilation	0	SLC6A8 CL E G H	6535	52503				ORPHA	1	903	11055	300036
HP:0000742	HP:0000742	Self-mutilation	0	SLITRK1 CL E G H	114798	137580	Tourette Syndrome	137580	C0040517	OMIM	1	181	20297	609678
HP:0000742	HP:0000742	Self-mutilation	0	TMEM231 CL E G H	79583	614970	Joubert syndrome 20	614970	C3554235	OMIM	1	341	37234	614949
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	639	291	608222
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	570	20893	300485
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	648	2860	602858
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	641	4868	605837
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	620	21474	613037
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	123	7045	602616
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	361	18704	300013
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	145	26742	610647
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	NDE1 CL E G H	54820	605013	Microhydranencephaly	605013	C1857977	OMIM	1	1483	17619	609449
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	NTRK1 CL E G H	4914	256800	Hereditary insensitivity to pain with anhidrosis	256800	C0020074	OMIM	1	981	8031	191315
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	PAH CL E G H	5053	261600	Phenylketonuria	261600	C0031485	OMIM	1	1316	8582	612349
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	RAI1 CL E G H	10743	182290	Smith-Magenis syndrome	182290	C0795864	OMIM	1	1149	9834	607642
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	SLC6A17 CL E G H	388662	616269	Mental retardation, autosomal recessive 48	616269	C4225395	OMIM	1	61	31399	610299
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	SLC6A8 CL E G H	6535	52503				ORPHA	1	903	11055	300036
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	SLITRK1 CL E G H	114798	137580	Tourette Syndrome	137580	C0040517	OMIM	1	181	20297	609678
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	TMEM231 CL E G H	79583	614970	Joubert syndrome 20	614970	C3554235	OMIM	1	341	37234	614949
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000742	HP:0000742	Self-mutilation	0	DPYD CL E G H	1806	293948				ORPHA	0	379	3012	612779
HP:0000742	HP:0000742	Self-mutilation	0	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	65	18188	614123
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	DPYD CL E G H	1806	293948				ORPHA	0	379	3012	612779
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	65	18188	614123

Genes (21) :ADSL BCOR CREBBP DHCR7 DPYD EP300 HERC2 INPP5E MGAT2 NAA10 NAT8L NDE1 NTRK1 PAH RAI1 SLC6A17 SLC6A8 SLITRK1 TMCO1 TMEM231 VPS13A

Diseases (19) :103050 309800 180849 270400 293948 615516 213300 212066 614063 605013 256800 261600 182290 616269 52503 137580 213980 614970 200150

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

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