Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal aggressive, impulsive or violent behavior (HP:0006919)help
Parent Node:
expand
Self-injurious behavior (HP:0100716)help
..Starting node
..expand
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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000742HP:0000742Self-mutilation0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0000742HP:0000742Self-mutilation0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM157020893300485
HP:0000742HP:0000742Self-mutilation0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0000742HP:0000742Self-mutilation0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM16482860602858
HP:0000742HP:0000742Self-mutilation0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0000742HP:0000742Self-mutilation0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16414868605837
HP:0000742HP:0000742Self-mutilation0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM162021474613037
HP:0000742HP:0000742Self-mutilation0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0000742HP:0000742Self-mutilation0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM136118704300013
HP:0000742HP:0000742Self-mutilation0NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114526742610647
HP:0000742HP:0000742Self-mutilation0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1148317619609449
HP:0000742HP:0000742Self-mutilation0NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM19818031191315
HP:0000742HP:0000742Self-mutilation0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM113168582612349
HP:0000742HP:0000742Self-mutilation0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM111499834607642
HP:0000742HP:0000742Self-mutilation0SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM16131399610299
HP:0000742HP:0000742Self-mutilation0SLC6A8 CL E G H653552503ORPHA190311055300036
HP:0000742HP:0000742Self-mutilation0SLITRK1 CL E G H114798137580Tourette Syndrome137580C0040517OMIM118120297609678
HP:0000742HP:0000742Self-mutilation0TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM134137234614949
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM157020893300485
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM16482860602858
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16414868605837
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM162021474613037
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM136118704300013
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114526742610647
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1148317619609449
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM19818031191315
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM113168582612349
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM111499834607642
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM16131399610299
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1SLC6A8 CL E G H653552503ORPHA190311055300036
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1SLITRK1 CL E G H114798137580Tourette Syndrome137580C0040517OMIM118120297609678
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM134137234614949
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000742HP:0000742Self-mutilation0DPYD CL E G H1806293948ORPHA03793012612779
HP:0000742HP:0000742Self-mutilation0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM06518188614123
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1DPYD CL E G H1806293948ORPHA03793012612779
HP:0000742HP:0008767Self-mutilation of tongue and lips due to involuntary movements1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM06518188614123


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.