Human Phenotype Ontology 
Grandparent Node:
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Abnormal emotion/affect behavior (HP:0100851)help
Parent Node:
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Abnormal aggressive, impulsive or violent behavior (HP:0006919)help
..Starting node
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Self-injurious behavior (HP:0100716)help
Term ID: 100716
Name: Self-injurious behavior
Synonym: Autoagression; Self injury; Self-harm; Self-injurious behavior; Self-injurious behaviors; Self-injurious behaviour; Self-injurious behaviours
Definition: Aggression towards oneself.
Comments:
Reference: HP:0100716
Genes and Diseases:
 
       Child Nodes:
........expandSelf-mutilation (HP:0000742) help
................... HP:0008767 Self-mutilation of tongue and lips due to involuntary movements
........expandSkin-picking (HP:0012166) help
........expandHair-pulling (HP:0012167) help
........expandHead-banging (HP:0012168) help
........expandSelf-biting (HP:0012169) help
................... HP:0012170 Nail-biting

 Sister Nodes: 
..expandAggressive behavior (HP:0000718) help
..expandViolent behavior (HP:0008760) 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:0100716HP:0100716Self-injurious behavior0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040283 - Occasional130
HP:0100716HP:0100716Self-injurious behavior0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0100716HP:0100716Self-injurious behavior0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency.108
HP:0100716HP:0100716Self-injurious behavior0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0100716HP:0100716Self-injurious behavior0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0100716HP:0100716Self-injurious behavior0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0100716HP:0100716Self-injurious behavior0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0100716HP:0100716Self-injurious behavior0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0100716HP:0100716Self-injurious behavior0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0100716HP:0100716Self-injurious behavior0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0100716HP:0100716Self-injurious behavior0ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 24
HP:0100716HP:0100716Self-injurious behavior0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0100716HP:0100716Self-injurious behavior0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0100716HP:0100716Self-injurious behavior0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0100716HP:0100716Self-injurious behavior0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0100716HP:0100716Self-injurious behavior0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0100716HP:0100716Self-injurious behavior0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0100716HP:0100716Self-injurious behavior0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0100716HP:0100716Self-injurious behavior0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0100716HP:0100716Self-injurious behavior0CDC42BPB CL E G H95781738OMIM:619841
HP:0100716HP:0100716Self-injurious behavior0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100716HP:0100716Self-injurious behavior0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0100716HP:0100716Self-injurious behavior0CEP104 CL E G H973124866OMIM:6199885
HP:0100716HP:0100716Self-injurious behavior0CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive146
HP:0100716HP:0100716Self-injurious behavior0CHD5 CL E G H2603816816OMIM:619873
HP:0100716HP:0100716Self-injurious behavior0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0100716HP:0100716Self-injurious behavior0CHKA CL E G H11191937OMIM:620023
HP:0100716HP:0100716Self-injurious behavior0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0100716HP:0100716Self-injurious behavior0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0100716HP:0100716Self-injurious behavior0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0100716HP:0100716Self-injurious behavior0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0100716HP:0100716Self-injurious behavior0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0100716HP:0100716Self-injurious behavior0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100716HP:0100716Self-injurious behavior0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0100716HP:0100716Self-injurious behavior0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0100716HP:0100716Self-injurious behavior0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0100716HP:0100716Self-injurious behavior0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0100716HP:0100716Self-injurious behavior0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0100716HP:0100716Self-injurious behavior0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0100716HP:0100716Self-injurious behavior0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0100716HP:0100716Self-injurious behavior0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0100716HP:0100716Self-injurious behavior0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0100716HP:0100716Self-injurious behavior0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31HP:0040283 - Occasional72
HP:0100716HP:0100716Self-injurious behavior0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0100716HP:0100716Self-injurious behavior0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0100716HP:0100716Self-injurious behavior0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040283 - Occasional144
HP:0100716HP:0100716Self-injurious behavior0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0100716HP:0100716Self-injurious behavior0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0100716HP:0100716Self-injurious behavior0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0100716HP:0100716Self-injurious behavior0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100716HP:0100716Self-injurious behavior0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0100716HP:0100716Self-injurious behavior0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0100716HP:0100716Self-injurious behavior0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100716HP:0100716Self-injurious behavior0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0100716HP:0100716Self-injurious behavior0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0100716HP:0100716Self-injurious behavior0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040283 - Occasional30
HP:0100716HP:0100716Self-injurious behavior0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0100716HP:0100716Self-injurious behavior0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0100716HP:0100716Self-injurious behavior0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 59.5
HP:0100716HP:0100716Self-injurious behavior0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0100716HP:0100716Self-injurious behavior0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0100716HP:0100716Self-injurious behavior0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0100716HP:0100716Self-injurious behavior0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0100716HP:0100716Self-injurious behavior0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0100716HP:0100716Self-injurious behavior0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040283 - Occasional199
HP:0100716HP:0100716Self-injurious behavior0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.
HP:0100716HP:0100716Self-injurious behavior0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0100716HP:0100716Self-injurious behavior0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0100716HP:0100716Self-injurious behavior0GRIA1 CL E G H28904571OMIM:6199313
HP:0100716HP:0100716Self-injurious behavior0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0100716HP:0100716Self-injurious behavior0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0100716HP:0100716Self-injurious behavior0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0100716HP:0100716Self-injurious behavior0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0100716HP:0100716Self-injurious behavior0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0100716HP:0100716Self-injurious behavior0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0100716HP:0100716Self-injurious behavior0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0100716HP:0100716Self-injurious behavior0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0100716HP:0100716Self-injurious behavior0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0100716HP:0100716Self-injurious behavior0H4C5 CL E G H83674790OMIM:619950
HP:0100716HP:0100716Self-injurious behavior0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0100716HP:0100716Self-injurious behavior0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome1
HP:0100716HP:0100716Self-injurious behavior0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0100716HP:0100716Self-injurious behavior0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0100716HP:0100716Self-injurious behavior0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0100716HP:0100716Self-injurious behavior0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0100716HP:0100716Self-injurious behavior0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0100716HP:0100716Self-injurious behavior0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0100716HP:0100716Self-injurious behavior0HTR2A CL E G H33565293OMIM:164230Obsessive-Compulsive disorder 14
HP:0100716HP:0100716Self-injurious behavior0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0100716HP:0100716Self-injurious behavior0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0100716HP:0100716Self-injurious behavior0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0100716HP:0100716Self-injurious behavior0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040283 - Occasional119
HP:0100716HP:0100716Self-injurious behavior0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0100716HP:0100716Self-injurious behavior0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0100716HP:0100716Self-injurious behavior0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0100716HP:0100716Self-injurious behavior0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0100716HP:0100716Self-injurious behavior0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0100716HP:0100716Self-injurious behavior0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0100716HP:0100716Self-injurious behavior0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0100716HP:0100716Self-injurious behavior0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0100716HP:0100716Self-injurious behavior0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0100716HP:0100716Self-injurious behavior0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0100716HP:0100716Self-injurious behavior0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0100716HP:0100716Self-injurious behavior0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0100716HP:0100716Self-injurious behavior0LARP7 CL E G H5157424912ORPHA:319671Alazami syndrome16
HP:0100716HP:0100716Self-injurious behavior0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0100716HP:0100716Self-injurious behavior0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0100716HP:0100716Self-injurious behavior0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0100716HP:0100716Self-injurious behavior0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0100716HP:0100716Self-injurious behavior0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0100716HP:0100716Self-injurious behavior0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0100716HP:0100716Self-injurious behavior0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0100716HP:0100716Self-injurious behavior0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0100716HP:0100716Self-injurious behavior0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0100716HP:0100716Self-injurious behavior0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0100716HP:0100716Self-injurious behavior0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0100716HP:0100716Self-injurious behavior0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0100716HP:0100716Self-injurious behavior0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0100716HP:0100716Self-injurious behavior0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0100716HP:0100716Self-injurious behavior0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0100716HP:0100716Self-injurious behavior0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0100716HP:0100716Self-injurious behavior0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0100716HP:0100716Self-injurious behavior0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0100716HP:0100716Self-injurious behavior0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0100716HP:0100716Self-injurious behavior0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0100716HP:0100716Self-injurious behavior0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0100716HP:0100716Self-injurious behavior0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY1
HP:0100716HP:0100716Self-injurious behavior0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0100716HP:0100716Self-injurious behavior0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0100716HP:0100716Self-injurious behavior0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0100716HP:0100716Self-injurious behavior0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0100716HP:0100716Self-injurious behavior0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0100716HP:0100716Self-injurious behavior0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0100716HP:0100716Self-injurious behavior0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0100716HP:0100716Self-injurious behavior0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0100716HP:0100716Self-injurious behavior0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0100716HP:0100716Self-injurious behavior0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional117
HP:0100716HP:0100716Self-injurious behavior0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional1
HP:0100716HP:0100716Self-injurious behavior0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0100716HP:0100716Self-injurious behavior0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0100716HP:0100716Self-injurious behavior0NRCAM CL E G H48977994OMIM:6198332
HP:0100716HP:0100716Self-injurious behavior0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100716HP:0100716Self-injurious behavior0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0100716HP:0100716Self-injurious behavior0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0100716HP:0100716Self-injurious behavior0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0100716HP:0100716Self-injurious behavior0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0100716HP:0100716Self-injurious behavior0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0100716HP:0100716Self-injurious behavior0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0100716HP:0100716Self-injurious behavior0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0100716HP:0100716Self-injurious behavior0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0100716HP:0100716Self-injurious behavior0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040283 - Occasional641
HP:0100716HP:0100716Self-injurious behavior0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0100716HP:0100716Self-injurious behavior0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0100716HP:0100716Self-injurious behavior0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0100716HP:0100716Self-injurious behavior0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0100716HP:0100716Self-injurious behavior0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0100716HP:0100716Self-injurious behavior0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0100716HP:0100716Self-injurious behavior0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0100716HP:0100716Self-injurious behavior0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0100716HP:0100716Self-injurious behavior0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0100716HP:0100716Self-injurious behavior0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0100716HP:0100716Self-injurious behavior0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0100716HP:0100716Self-injurious behavior0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0100716HP:0100716Self-injurious behavior0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0100716HP:0100716Self-injurious behavior0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0100716HP:0100716Self-injurious behavior0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0100716HP:0100716Self-injurious behavior0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0100716HP:0100716Self-injurious behavior0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0100716HP:0100716Self-injurious behavior0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0100716HP:0100716Self-injurious behavior0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0100716HP:0100716Self-injurious behavior0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040282 - Frequent10
HP:0100716HP:0100716Self-injurious behavior0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040283 - Occasional65
HP:0100716HP:0100716Self-injurious behavior0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0100716HP:0100716Self-injurious behavior0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0100716HP:0100716Self-injurious behavior0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0100716HP:0100716Self-injurious behavior0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0100716HP:0100716Self-injurious behavior0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0100716HP:0100716Self-injurious behavior0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0100716HP:0100716Self-injurious behavior0SHQ1 CL E G H5516425543OMIM:619922
HP:0100716HP:0100716Self-injurious behavior0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0100716HP:0100716Self-injurious behavior0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0100716HP:0100716Self-injurious behavior0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0100716HP:0100716Self-injurious behavior0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0100716HP:0100716Self-injurious behavior0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0100716HP:0100716Self-injurious behavior0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 4812
HP:0100716HP:0100716Self-injurious behavior0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0100716HP:0100716Self-injurious behavior0SLC6A4 CL E G H653211050OMIM:164230Obsessive-Compulsive disorder 152
HP:0100716HP:0100716Self-injurious behavior0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiency122
HP:0100716HP:0100716Self-injurious behavior0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome58
HP:0100716HP:0100716Self-injurious behavior0SLITRK1 CL E G H11479820297OMIM:613229TRICHOTILLOMANIA58
HP:0100716HP:0100716Self-injurious behavior0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0100716HP:0100716Self-injurious behavior0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0100716HP:0100716Self-injurious behavior0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0100716HP:0100716Self-injurious behavior0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0100716HP:0100716Self-injurious behavior0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0100716HP:0100716Self-injurious behavior0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0100716HP:0100716Self-injurious behavior0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0100716HP:0100716Self-injurious behavior0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0100716HP:0100716Self-injurious behavior0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040283 - Occasional11
HP:0100716HP:0100716Self-injurious behavior0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0100716HP:0100716Self-injurious behavior0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0100716HP:0100716Self-injurious behavior0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0100716HP:0100716Self-injurious behavior0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0100716HP:0100716Self-injurious behavior0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0100716HP:0100716Self-injurious behavior0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0100716HP:0100716Self-injurious behavior0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0100716HP:0100716Self-injurious behavior0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0100716HP:0100716Self-injurious behavior0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0100716HP:0100716Self-injurious behavior0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome5
HP:0100716HP:0100716Self-injurious behavior0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects.4
HP:0100716HP:0100716Self-injurious behavior0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0100716HP:0100716Self-injurious behavior0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0100716HP:0100716Self-injurious behavior0TMEM147 CL E G H1043030414OMIM:620075
HP:0100716HP:0100716Self-injurious behavior0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 2033
HP:0100716HP:0100716Self-injurious behavior0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0100716HP:0100716Self-injurious behavior0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0100716HP:0100716Self-injurious behavior0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0100716HP:0100716Self-injurious behavior0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0100716HP:0100716Self-injurious behavior0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0100716HP:0100716Self-injurious behavior0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0100716HP:0100716Self-injurious behavior0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional14
HP:0100716HP:0100716Self-injurious behavior0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0100716HP:0100716Self-injurious behavior0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0100716HP:0100716Self-injurious behavior0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0100716HP:0100716Self-injurious behavior0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0100716HP:0100716Self-injurious behavior0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0100716HP:0100716Self-injurious behavior0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0100716HP:0100716Self-injurious behavior0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0100716HP:0100716Self-injurious behavior0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0100716HP:0100716Self-injurious behavior0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0100716HP:0100716Self-injurious behavior0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0100716HP:0100716Self-injurious behavior0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0100716HP:0100716Self-injurious behavior0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0100716HP:0000742Self-mutilation1ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0100716HP:0000742Self-mutilation1ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0100716HP:0000742Self-mutilation1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0100716HP:0012169Self-biting1ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 2.4
HP:0100716HP:0000742Self-mutilation1AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0100716HP:0000742Self-mutilation1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0100716HP:0000742Self-mutilation1CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0100716HP:0012169Self-biting1CEP104 CL E G H973124866OMIM:6199885
HP:0100716HP:0012166Skin-picking1CHD5 CL E G H2603816816OMIM:619873
HP:0100716HP:0000742Self-mutilation1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0100716HP:0000742Self-mutilation1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040282 - Frequent6
HP:0100716HP:0000742Self-mutilation1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0100716HP:0012166Skin-picking1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0100716HP:0000742Self-mutilation1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100716HP:0000742Self-mutilation1CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0100716HP:0000742Self-mutilation1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0100716HP:0012169Self-biting1DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0100716HP:0012168Head-banging1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0100716HP:0000742Self-mutilation1DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040283 - Occasional144
HP:0100716HP:0012167Hair-pulling1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0100716HP:0000742Self-mutilation1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100716HP:0012169Self-biting1FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0100716HP:0000742Self-mutilation1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0100716HP:0000742Self-mutilation1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0100716HP:0000742Self-mutilation1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0100716HP:0000742Self-mutilation1H4C5 CL E G H83674790OMIM:619950
HP:0100716HP:0000742Self-mutilation1HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0100716HP:0000742Self-mutilation1HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0100716HP:0012166Skin-picking1HTR2A CL E G H33565293OMIM:164230Obsessive-Compulsive disorder 14
HP:0100716HP:0000742Self-mutilation1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0100716HP:0012168Head-banging1KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0100716HP:0012166Skin-picking1KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0100716HP:0000742Self-mutilation1LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040283 - Occasional16
HP:0100716HP:0000742Self-mutilation1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0100716HP:0000742Self-mutilation1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0100716HP:0012166Skin-picking1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0100716HP:0012166Skin-picking1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0100716HP:0012166Skin-picking1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0100716HP:0012166Skin-picking1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0100716HP:0012166Skin-picking1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0100716HP:0012168Head-banging1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0100716HP:0000742Self-mutilation1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0100716HP:0000742Self-mutilation1MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0100716HP:0000742Self-mutilation1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0100716HP:0000742Self-mutilation1NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0100716HP:0000742Self-mutilation1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0100716HP:0012166Skin-picking1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0100716HP:0012166Skin-picking1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0100716HP:0012166Skin-picking1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0100716HP:0012169Self-biting1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0100716HP:0000742Self-mutilation1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040281 - Very frequent97
HP:0100716HP:0012169Self-biting1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0100716HP:0000742Self-mutilation1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0100716HP:0012166Skin-picking1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0100716HP:0012166Skin-picking1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0100716HP:0012166Skin-picking1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0100716HP:0000742Self-mutilation1OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0100716HP:0012169Self-biting1PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0100716HP:0012168Head-banging1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0100716HP:0012168Head-banging1RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome.150
HP:0100716HP:0000742Self-mutilation1RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0100716HP:0000742Self-mutilation1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0100716HP:0000742Self-mutilation1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0100716HP:0012167Hair-pulling1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0100716HP:0012166Skin-picking1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0100716HP:0012167Hair-pulling1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0100716HP:0000742Self-mutilation1SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0100716HP:0000742Self-mutilation1SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0100716HP:0012166Skin-picking1SLC6A4 CL E G H653211050OMIM:164230Obsessive-Compulsive disorder 152
HP:0100716HP:0000742Self-mutilation1SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0100716HP:0000742Self-mutilation1SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0100716HP:0012167Hair-pulling1SLITRK1 CL E G H11479820297OMIM:613229TRICHOTILLOMANIA.58
HP:0100716HP:0000742Self-mutilation1SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0100716HP:0012166Skin-picking1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0100716HP:0012166Skin-picking1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0100716HP:0012166Skin-picking1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0100716HP:0012166Skin-picking1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0100716HP:0012168Head-banging1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0100716HP:0012168Head-banging1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0100716HP:0012169Self-biting1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0100716HP:0000742Self-mutilation1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0100716HP:0012168Head-banging1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0100716HP:0000742Self-mutilation1THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0100716HP:0000742Self-mutilation1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0100716HP:0000742Self-mutilation1TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 20HP:0040282 - Frequent33
HP:0100716HP:0000742Self-mutilation1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0100716HP:0000742Self-mutilation1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0100716HP:0012166Skin-picking1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0100716HP:0000742Self-mutilation1VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0100716HP:0012168Head-banging1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0100716HP:0012167Hair-pulling1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0100716HP:0000742Self-mutilation1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0100716HP:0000742Self-mutilation1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0100716HP:0012170Nail-biting2NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0100716HP:0012170Nail-biting2PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0100716HP:0008767Self-mutilation of tongue and lips due to involuntary movements2VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0100716HP:0008767Self-mutilation of tongue and lips due to involuntary movements2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130


Genes (189) :ABCA12 ADSL ALDH5A1 ALG13 ALG14 AP1G1 AP1S2 ARX ASXL3 ATG7 ATP1A1 ATP6V0A1 ATRX AUH BCOR CAMK2G CASK CASZ1 CDC42BPB CDH2 CDKL5 CEP104 CEP152 CHD5 CHD7 CHKA CLCN3 CLCN4 CLTCL1 CNTNAP2 CRBN CREBBP CTNNB1 DCHS1 DEAF1 DHCR7 DMXL2 DNM1 DNM1L DPAGT1 DPYD EEF1A2 EHMT1 ELP2 EP300 FAT4 FBXW11 FLII FMR1 FOXP1 GABBR2 GABRD GAMT GATAD2B GJA5 GJA8 GJB2 GLS GNAO1 GRIA1 GRIA2 GRIA3 GRIN1 GRM7 H4C5 HDAC4 HDC HECW2 HERC2 HNRNPH2 HPRT1 HSPG2 HTR2A IFNG INPP5E IPW IQSEC2 KARS1 KAT5 KCNA1 KCNAB2 KIF15 KIF5C KMT2C KMT2E KPTN LARP7 LUZP1 MADD MAGEL2 MAOA MAPK1 MBD5 MGAT2 MKRN3 MKRN3-AS1 MMP23B MYT1L NAA10 NALCN NAT8L NDE1 NDN NDP NDST1 NEUROD2 NEXMIF NFIX NIPA1 NIPA2 NIPBL NPAP1 NRCAM NTNG2 NTRK1 OCA2 OCRL ODC1 OPHN1 PAH PDPN PIDD1 PIGF PIGP PIGQ PNKP POGZ PRDM16 PRKCZ PWAR1 PWRN1 RAI1 RBL2 RERE RLIM RNU7-1 RPL10 RPS6KA3 RTTN SATB2 SCN1B SCN2A SETBP1 SHANK3 SHQ1 SIK1 SIM1 SKI SLC1A4 SLC25A22 SLC6A17 SLC6A4 SLC6A8 SLITRK1 SMARCC2 SMG8 SNORD115-1 SNORD116-1 SNRPN SOX5 SPATA5 SPEN SPOP SVBP SYT1 TAOK1 TCF4 THOC2 TKT TMCO1 TMEM147 TMEM231 TREX1 TRIM8 TRIO TSC1 TSC2 TUBG1 UBE2A UBE4B UNC80 USP7 VAMP2 VPS13A WAC WASF1 WASHC4 WDR62 ZBTB20

Diseases (171) :ORPHA:457 OMIM:103050 OMIM:271980 OMIM:300884 OMIM:619031 OMIM:619467 OMIM:304340 ORPHA:1934 OMIM:615485 OMIM:619422 OMIM:618314 OMIM:619970 ORPHA:847 OMIM:250950 ORPHA:568 OMIM:309800 OMIM:618522 ORPHA:1606 OMIM:619841 OMIM:618929 OMIM:619988 OMIM:614852 OMIM:619873 OMIM:214800 OMIM:620023 OMIM:619512 ORPHA:485350 ORPHA:453510 ORPHA:163681 OMIM:607417 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:615075 ORPHA:404473 ORPHA:314679 ORPHA:819 OMIM:270400 ORPHA:818 OMIM:616346 OMIM:614388 ORPHA:86309 ORPHA:293948 OMIM:616393 ORPHA:261652 OMIM:617270 ORPHA:353284 OMIM:618914 OMIM:300624 ORPHA:908 ORPHA:449291 OMIM:613670 OMIM:617904 ORPHA:382 ORPHA:363686 OMIM:612474 ORPHA:494 OMIM:618339 OMIM:617493 OMIM:619931 OMIM:618917 OMIM:300699 ORPHA:364028 ORPHA:208447 OMIM:614254 OMIM:617820 OMIM:618922 OMIM:619950 OMIM:600430 OMIM:137580 OMIM:617268 OMIM:615516 OMIM:176270 OMIM:300986 OMIM:300322 OMIM:164230 ORPHA:805 OMIM:213300 ORPHA:397933 OMIM:613641 OMIM:619103 ORPHA:261323 OMIM:615282 OMIM:617768 OMIM:618512 ORPHA:397612 OMIM:615637 ORPHA:319671 OMIM:619004 OMIM:619005 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:300615 OMIM:619087 ORPHA:228402 OMIM:156200 OMIM:212066 OMIM:616521 ORPHA:371364 OMIM:614063 OMIM:605013 ORPHA:649 OMIM:616116 OMIM:300912 ORPHA:447980 ORPHA:261183 OMIM:122470 OMIM:619833 OMIM:618718 ORPHA:642 OMIM:256800 ORPHA:534 ORPHA:544488 OMIM:300486 ORPHA:79254 OMIM:619827 OMIM:619356 ORPHA:468678 OMIM:616364 OMIM:182290 OMIM:619690 ORPHA:494344 OMIM:300978 OMIM:619487 ORPHA:435938 ORPHA:192 ORPHA:468631 ORPHA:251028 OMIM:616078 ORPHA:48652 OMIM:619922 ORPHA:398079 ORPHA:447997 OMIM:616269 ORPHA:457212 ORPHA:52503 OMIM:613229 OMIM:618362 OMIM:619268 ORPHA:177907 ORPHA:313892 ORPHA:457351 OMIM:618828 OMIM:618569 OMIM:618218 ORPHA:522077 OMIM:619575 ORPHA:2896 OMIM:610954 ORPHA:457240 OMIM:617044 ORPHA:488618 OMIM:213980 OMIM:620075 OMIM:614970 OMIM:225750 OMIM:617061 ORPHA:476126 OMIM:300860 ORPHA:500055 OMIM:618760 OMIM:200150 ORPHA:2388 ORPHA:466950 OMIM:618707 OMIM:615817 OMIM:604317 OMIM:259050
 

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