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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000742	HP:0000742	Self-mutilation	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0000742	HP:0000742	Self-mutilation	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0000742	HP:0000742	Self-mutilation	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0000742	HP:0000742	Self-mutilation	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0000742	HP:0000742	Self-mutilation	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000742	HP:0000742	Self-mutilation	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0000742	HP:0000742	Self-mutilation	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000742	HP:0000742	Self-mutilation	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0000742	HP:0000742	Self-mutilation	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0000742	HP:0000742	Self-mutilation	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000742	HP:0000742	Self-mutilation	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0000742	HP:0000742	Self-mutilation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000742	HP:0000742	Self-mutilation	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040283 - Occasional	144
HP:0000742	HP:0000742	Self-mutilation	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000742	HP:0000742	Self-mutilation	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0000742	HP:0000742	Self-mutilation	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000742	HP:0000742	Self-mutilation	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0000742	HP:0000742	Self-mutilation	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000742	HP:0000742	Self-mutilation	0	HDC CL E G H	3067	4855	OMIM:137580	Gilles de la tourette syndrome	.	1
HP:0000742	HP:0000742	Self-mutilation	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0000742	HP:0000742	Self-mutilation	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0000742	HP:0000742	Self-mutilation	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional	16
HP:0000742	HP:0000742	Self-mutilation	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000742	HP:0000742	Self-mutilation	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000742	HP:0000742	Self-mutilation	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000742	HP:0000742	Self-mutilation	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0000742	HP:0000742	Self-mutilation	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000742	HP:0000742	Self-mutilation	0	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.	1
HP:0000742	HP:0000742	Self-mutilation	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0000742	HP:0000742	Self-mutilation	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	97
HP:0000742	HP:0000742	Self-mutilation	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0000742	HP:0000742	Self-mutilation	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000742	HP:0000742	Self-mutilation	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000742	HP:0000742	Self-mutilation	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000742	HP:0000742	Self-mutilation	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000742	HP:0000742	Self-mutilation	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.	12
HP:0000742	HP:0000742	Self-mutilation	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent	12
HP:0000742	HP:0000742	Self-mutilation	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0000742	HP:0000742	Self-mutilation	0	SLITRK1 CL E G H	114798	20297	OMIM:137580	Gilles de la tourette syndrome	.	58
HP:0000742	HP:0000742	Self-mutilation	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000742	HP:0000742	Self-mutilation	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0000742	HP:0000742	Self-mutilation	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0000742	HP:0000742	Self-mutilation	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional	6
HP:0000742	HP:0000742	Self-mutilation	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040282 - Frequent	33
HP:0000742	HP:0000742	Self-mutilation	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0000742	HP:0000742	Self-mutilation	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000742	HP:0000742	Self-mutilation	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0000742	HP:0000742	Self-mutilation	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0000742	HP:0000742	Self-mutilation	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0000742	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (45) :ADSL ALG13 ATG7 AUH BCOR CAMK2G CHD7 CLTCL1 CNTNAP2 CREBBP CTNNB1 DHCR7 DPYD EP300 GATAD2B GRIA3 GRM7 H4C5 HDC HERC2 INPP5E LARP7 MADD MGAT2 MYT1L NAA10 NAT8L NDE1 NTRK1 OPHN1 RAI1 RNU7-1 SATB2 SLC6A17 SLC6A8 SLITRK1 SMG8 SYT1 THOC2 TMCO1 TMEM231 TREX1 TRIO VPS13A WDR62

Diseases (46) :OMIM:103050 OMIM:300884 OMIM:619422 OMIM:250950 OMIM:309800 OMIM:618522 OMIM:214800 ORPHA:453510 ORPHA:163681 OMIM:180849 OMIM:615075 OMIM:270400 ORPHA:293948 ORPHA:363686 ORPHA:364028 OMIM:618922 OMIM:619950 OMIM:137580 OMIM:615516 OMIM:213300 ORPHA:319671 OMIM:619004 OMIM:619005 OMIM:212066 OMIM:616521 OMIM:614063 OMIM:605013 ORPHA:642 OMIM:256800 OMIM:300486 OMIM:182290 OMIM:619487 ORPHA:251028 OMIM:616269 ORPHA:457212 ORPHA:52503 OMIM:619268 ORPHA:522077 ORPHA:457240 OMIM:213980 OMIM:614970 OMIM:225750 ORPHA:476126 OMIM:200150 ORPHA:2388 OMIM:604317

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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