Human Phenotype Ontology 
Grandparent Node:
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Abnormal aggressive, impulsive or violent behavior (HP:0006919)help
Parent Node:
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Self-injurious behavior (HP:0100716)help
..Starting node
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Self-mutilation (HP:0000742)help
Term ID: 742
Name: Self-mutilation
Synonym: Deliberate self-harm; Self mutilation; Self-mutilation
Definition:
Comments:
Reference: HP:0000742
Genes and Diseases:
 
       Child Nodes:
........expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help

 Sister Nodes: 
..expandHair-pulling (HP:0012167) help
..expandHead-banging (HP:0012168) help
..expandSelf-biting (HP:0012169) help
..expandSkin-picking (HP:0012166) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000742HP:0000742Self-mutilation0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000742HP:0000742Self-mutilation0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0000742HP:0000742Self-mutilation0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000742HP:0000742Self-mutilation0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0000742HP:0000742Self-mutilation0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000742HP:0000742Self-mutilation0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0000742HP:0000742Self-mutilation0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000742HP:0000742Self-mutilation0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040282 - Frequent6
HP:0000742HP:0000742Self-mutilation0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000742HP:0000742Self-mutilation0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000742HP:0000742Self-mutilation0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0000742HP:0000742Self-mutilation0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000742HP:0000742Self-mutilation0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040283 - Occasional144
HP:0000742HP:0000742Self-mutilation0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000742HP:0000742Self-mutilation0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000742HP:0000742Self-mutilation0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000742HP:0000742Self-mutilation0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0000742HP:0000742Self-mutilation0H4C5 CL E G H83674790OMIM:619950
HP:0000742HP:0000742Self-mutilation0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0000742HP:0000742Self-mutilation0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0000742HP:0000742Self-mutilation0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0000742HP:0000742Self-mutilation0LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040283 - Occasional16
HP:0000742HP:0000742Self-mutilation0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000742HP:0000742Self-mutilation0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000742HP:0000742Self-mutilation0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0000742HP:0000742Self-mutilation0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0000742HP:0000742Self-mutilation0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000742HP:0000742Self-mutilation0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0000742HP:0000742Self-mutilation0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0000742HP:0000742Self-mutilation0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040281 - Very frequent97
HP:0000742HP:0000742Self-mutilation0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0000742HP:0000742Self-mutilation0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0000742HP:0000742Self-mutilation0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000742HP:0000742Self-mutilation0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000742HP:0000742Self-mutilation0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000742HP:0000742Self-mutilation0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0000742HP:0000742Self-mutilation0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0000742HP:0000742Self-mutilation0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0000742HP:0000742Self-mutilation0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0000742HP:0000742Self-mutilation0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000742HP:0000742Self-mutilation0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0000742HP:0000742Self-mutilation0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0000742HP:0000742Self-mutilation0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0000742HP:0000742Self-mutilation0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040282 - Frequent33
HP:0000742HP:0000742Self-mutilation0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0000742HP:0000742Self-mutilation0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0000742HP:0000742Self-mutilation0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0000742HP:0000742Self-mutilation0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0000742HP:0000742Self-mutilation0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130


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 ORPHA:2388 OMIM:200150 OMIM:604317
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.