Human Phenotype Ontology 
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Hyperactivity (HP:0000752)help
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Short attention span (HP:0000736)help
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Attention deficit hyperactivity disorder (HP:0007018)help
Term ID: 7018
Name: Attention deficit hyperactivity disorder
Synonym: ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder
Definition: Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Comments:
Reference: HP:0007018
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007018HP:0007018Attention deficit hyperactivity disorder0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ADGRL1 CL E G H2285920973OMIM:620065
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0007018HP:0007018Attention deficit hyperactivity disorder0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0007018HP:0007018Attention deficit hyperactivity disorder0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ARPC4 CL E G H10093707OMIM:620141
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0007018HP:0007018Attention deficit hyperactivity disorder0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0007018HP:0007018Attention deficit hyperactivity disorder0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0007018HP:0007018Attention deficit hyperactivity disorder0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0007018HP:0007018Attention deficit hyperactivity disorder0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent385
HP:0007018HP:0007018Attention deficit hyperactivity disorder0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare94
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CACNA1C CL E G H7751390OMIM:620029572
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent75
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDC42BPB CL E G H95781738OMIM:619841
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDH2 CL E G H10001759OMIM:619957
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent227
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CHD5 CL E G H2603816816OMIM:619873
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare188
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare225
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare88
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 45.39
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0007018HP:0007018Attention deficit hyperactivity disorder0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 2.19
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare172
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040283 - Occasional3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DRD4 CL E G H18153025OMIM:143465Attention deficit-hyperactivity disorder.4
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DRD5 CL E G H18163026OMIM:143465Attention deficit-hyperactivity disorder.3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0007018HP:0007018Attention deficit hyperactivity disorder0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0007018HP:0007018Attention deficit hyperactivity disorder0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0007018HP:0007018Attention deficit hyperactivity disorder0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0007018HP:0007018Attention deficit hyperactivity disorder0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040282 - Frequent170
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040282 - Frequent15
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosisHP:0040282 - Frequent63
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040282 - Frequent30
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0007018HP:0007018Attention deficit hyperactivity disorder0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent134
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent57
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 4357
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent139
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional139
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040282 - Frequent56
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040282 - Frequent7
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia.7
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GRIA1 CL E G H28904571OMIM:6199273
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040282 - Frequent434
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional434
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0H4C5 CL E G H83674790OMIM:619950
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 2454
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HNRNPR CL E G H102365047OMIM:620073
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HOXA2 CL E G H31995103ORPHA:83463MicrotiaHP:0040283 - Occasional21
HP:0007018HP:0007018Attention deficit hyperactivity disorder0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0007018HP:0007018Attention deficit hyperactivity disorder0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0007018HP:0007018Attention deficit hyperactivity disorder0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0007018HP:0007018Attention deficit hyperactivity disorder0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0007018HP:0007018Attention deficit hyperactivity disorder0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0007018HP:0007018Attention deficit hyperactivity disorder0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0007018HP:0007018Attention deficit hyperactivity disorder0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0007018HP:0007018Attention deficit hyperactivity disorder0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0007018HP:0007018Attention deficit hyperactivity disorder0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0007018HP:0007018Attention deficit hyperactivity disorder0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare321
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KMT2B CL E G H975715840OMIM:61993411
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0007018HP:0007018Attention deficit hyperactivity disorder0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040282 - Frequent196
HP:0007018HP:0007018Attention deficit hyperactivity disorder0LGI3 CL E G H20319018711OMIM:620007
HP:0007018HP:0007018Attention deficit hyperactivity disorder0LHCGR CL E G H39736585ORPHA:3000Familial male-limited precocious pubertyHP:0040283 - Occasional67
HP:0007018HP:0007018Attention deficit hyperactivity disorder0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0007018HP:0007018Attention deficit hyperactivity disorder0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0LMAN2L CL E G H8156219263OMIM:6178631
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent228
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0007018HP:0007018Attention deficit hyperactivity disorder0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040282 - Frequent1819
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040282 - Frequent131
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040282 - Frequent2162
HP:0007018HP:0007018Attention deficit hyperactivity disorder0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040282 - Frequent2232
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent52
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NFIA CL E G H47747784ORPHA:4019861p31p32 microdeletion syndrome12
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent117
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NLGN1 CL E G H2287114291OMIM:618830Autism, susceptibility to, 20.4
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0007018HP:0007018Attention deficit hyperactivity disorder0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040283 - Occasional55
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040282 - Frequent641
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040283 - Occasional531
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PDZD8 CL E G H11898726974OMIM:620021
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040282 - Frequent77
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040282 - Frequent162
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040282 - Frequent56
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040282 - Frequent1121
HP:0007018HP:0007018Attention deficit hyperactivity disorder0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 14.83
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PRNP CL E G H56219449ORPHA:280397Familial Alzheimer-like prion diseaseHP:0040281 - Very frequent69
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PSMB1 CL E G H56899537OMIM:6200382
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 4.34
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0007018HP:0007018Attention deficit hyperactivity disorder0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 70.2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent1053
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia.357
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent48
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiencyHP:0040282 - Frequent40
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent255
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent255
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent29
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040284 - Very rare164
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040283 - Occasional11
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional50
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalitiesHP:0040284 - Very rare1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosisHP:0040282 - Frequent19
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040282 - Frequent19
HP:0007018HP:0007018Attention deficit hyperactivity disorder0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent108
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0007018HP:0007018Attention deficit hyperactivity disorder0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TBL1X CL E G H690711585OMIM:301033Hypothyroidism, congenital, nongoitrous, 8.1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040283 - Occasional32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040282 - Frequent253
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0007018HP:0007018Attention deficit hyperactivity disorder0THRB CL E G H706811799OMIM:188570Thyroid hormone resistance, generalized, autosomal dominant.161
HP:0007018HP:0007018Attention deficit hyperactivity disorder0THRB CL E G H706811799OMIM:274300Thyroid hormone resistance, generalized, autosomal recessive161
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TIAM1 CL E G H707411805OMIM:6199082
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040284 - Very rare15
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defectsHP:0040283 - Occasional4
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040282 - Frequent4
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 542
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TPH2 CL E G H12127820692OMIM:613003ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 731
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive.
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040283 - Occasional9
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutationHP:0040283 - Occasional39
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0007018HP:0007018Attention deficit hyperactivity disorder0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent14
HP:0007018HP:0007018Attention deficit hyperactivity disorder0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0007018HP:0007018Attention deficit hyperactivity disorder0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040281 - Very frequent278
HP:0007018HP:0007018Attention deficit hyperactivity disorder0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0007018HP:0007018Attention deficit hyperactivity disorder0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent33
HP:0007018HP:0007018Attention deficit hyperactivity disorder0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0007018HP:0007018Attention deficit hyperactivity disorder0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0007018HP:0007018Attention deficit hyperactivity disorder0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0007018HP:0007018Attention deficit hyperactivity disorder0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040281 - Very frequent20
HP:0007018HP:0007018Attention deficit hyperactivity disorder0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040282 - Frequent20
HP:0007018HP:0007018Attention deficit hyperactivity disorder0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0007018HP:0007018Attention deficit hyperactivity disorder0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0007018HP:0007018Attention deficit hyperactivity disorder0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56.
HP:0007018HP:0007018Attention deficit hyperactivity disorder0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0007018HP:0007018Attention deficit hyperactivity disorder0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0007018HP:0007018Attention deficit hyperactivity disorder0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent10
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0007018HP:0007018Attention deficit hyperactivity disorder0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643


Genes (355) :AARS1 ABCD1 ACTL6B ADGRL1 ADH5 ADNP AGO2 ALKBH8 ANAPC1 ANKRD11 ANKRD17 AP2M1 AP3B2 APC2 ARID2 ARPC4 ARV1 ARVCF ASPM ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A AUTS2 BAP1 BAZ1B BCL7B BCORL1 BCR BMPR1A BRD4 BUD23 C12ORF4 CABP4 CACNA1A CACNA1B CACNA1C CACNA1H CACNA2D1 CAMTA1 CARS1 CDC42BPB CDH11 CDH2 CDK19 CDK8 CDKN1C CDON CELF2 CHD2 CHD5 CHD7 CHRNA2 CHRNA4 CHRNA7 CHRNB2 CIC CLIP2 CLTC CNKSR2 COMT CRBN CRH CRKL CSGALNACT1 CSNK2A1 CYFIP2 CYP27A1 DALRD3 DCDC2 DDB1 DEAF1 DEPDC5 DHCR7 DHDDS DHTKD1 DISP1 DLG3 DLL1 DNAJC12 DNAJC30 DNM1 DPH1 DRD4 DRD5 DYNC1I2 DYRK1A EEF1A2 EIF2AK1 EIF4H ELN EPCAM FAN1 FANCD2 FANCL FGD1 FGF12 FGF13 FGF8 FGFR1 FGFR3 FKBP6 FLG FLI1 FLII FMR1 FOXH1 FOXP1 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GALC GALT GAS1 GATA4 GLI2 GLUD1 GNAQ GNB1 GNB5 GNE GP1BB GRIA1 GRIA4 GRIK2 GRIN2A GRIN2D GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCN1 HDAC4 HDAC8 HDC HERC2 HIRA HMGA2 HNRNPH2 HNRNPR HOXA2 HSPG2 IFNG IGF1 IGF2 IKBKG IPW IQSEC1 IQSEC2 JMJD1C JRK KANSL1 KAT5 KAT8 KCNA2 KCNB1 KCNN2 KCNT1 KDM3B KDM4B KIF11 KIF14 KMT2B KMT5B KRAS LGI3 LHCGR LIG4 LIMK1 LMAN2L MADD MAGEL2 MAP1B MAPK1 MCTP2 MED12 MED12L MED13 METTL27 METTL5 MKRN3 MKRN3-AS1 MLH1 MLH3 MLXIPL MSH2 MSH6 NAA15 NBEA NBN NCF1 NDP NECAP1 NEXMIF NF1 NFIA NIPA1 NIPA2 NIPBL NKAP NLGN1 NODAL NOP56 NPAP1 NR2F1 NSD1 NSUN2 NTRK2 NUS1 OCRL ODC1 OPHN1 PAH PANK2 PARS2 PCGF2 PCNT PDGFRB PDZD8 PHF21A PHIP PIDD1 PIEZO2 PIK3CA PLAG1 PLCH1 PMS1 PMS2 POLA1 PPM1D PPP1R12A PPP1R21 PPP3CA PRKAR1B PRKCG PRNP PRR12 PSMB1 PTCH1 PTCHD1 PUS7 PWAR1 PWRN1 RAD21 RAI1 RERE RFC2 RIC1 RPS20 RREB1 RSRC1 SATB2 SCAPER SCN1A SCN3A SCN8A SEC24C SEMA3E SEMA4A SETBP1 SETD2 SETD5 SH2B1 SH3KBP1 SHH SHMT2 SHOC2 SIM1 SIN3A SIX3 SLC13A5 SLC1A2 SLC2A1 SLC38A3 SLC6A1 SLC6A8 SLC7A6OS SLITRK1 SMARCA2 SMC1A SMC3 SMPD1 SNORD115-1 SNORD116-1 SNRPN SOX5 SOX6 SPEN SPG7 SPRED1 SPTBN1 SRCAP SRPX2 STAG2 STEEP1 STIL STS STX1A SYNGAP1 SYNJ1 SZT2 TAF1 TANC2 TAOK1 TBL1X TBL2 TBX1 TDGF1 TET3 TGFBR2 TGIF1 THRB TIAM1 TIMM8A TKT TLK2 TMCO1 TMEM270 TMEM67 TNIK TNPO2 TNRC6B TPH2 TRAK1 TRAPPC14 TRIO TSC1 TSC2 TSHB TUBA1A TUBB2B TUBB3 TUBG1 UBA5 UBE3A UBE4A UFD1 UPF3B USP7 VPS37D WAC WBP11 WWOX YWHAG YY1 ZDHHC9 ZIC2 ZMIZ1 ZMYM2 ZNF292

Diseases (248) :ORPHA:442835 OMIM:300100 OMIM:620065 OMIM:619151 ORPHA:404448 OMIM:619149 OMIM:618504 ORPHA:221008 OMIM:148050 OMIM:619504 ORPHA:1942 ORPHA:821 OMIM:617808 OMIM:620141 ORPHA:567 OMIM:608716 OMIM:619605 OMIM:619971 ORPHA:352490 OMIM:619762 ORPHA:904 OMIM:301029 ORPHA:261330 ORPHA:440437 ORPHA:199 OMIM:618221 ORPHA:98784 OMIM:620029 ORPHA:64280 OMIM:614756 OMIM:618891 OMIM:619841 OMIM:619736 OMIM:619957 OMIM:618929 OMIM:618748 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:619873 ORPHA:138 ORPHA:199318 OMIM:617600 OMIM:617854 OMIM:301008 OMIM:607417 OMIM:618870 OMIM:617062 ORPHA:909 ORPHA:84081 OMIM:619426 ORPHA:819 ORPHA:818 OMIM:204750 OMIM:300850 OMIM:618709 OMIM:617384 ORPHA:459061 OMIM:143465 OMIM:618492 ORPHA:464311 OMIM:618878 OMIM:194050 ORPHA:144 OMIM:227646 OMIM:614083 OMIM:305400 ORPHA:915 OMIM:602849 ORPHA:461 ORPHA:2308 ORPHA:908 ORPHA:449291 ORPHA:391372 OMIM:613670 OMIM:617113 ORPHA:1945 ORPHA:206443 ORPHA:79239 ORPHA:251071 ORPHA:35878 ORPHA:3205 OMIM:616973 OMIM:617182 OMIM:269921 ORPHA:3166 OMIM:619927 OMIM:617864 OMIM:619580 OMIM:245570 ORPHA:98818 OMIM:619950 OMIM:615871 ORPHA:1001 OMIM:137580 OMIM:176270 OMIM:300986 OMIM:620073 ORPHA:83463 ORPHA:800 ORPHA:805 OMIM:613254 ORPHA:73272 ORPHA:464 OMIM:618687 ORPHA:363958 ORPHA:363965 OMIM:619103 OMIM:618974 OMIM:619725 OMIM:618846 OMIM:619320 OMIM:152950 OMIM:617914 OMIM:619934 ORPHA:589618 OMIM:617788 OMIM:620007 ORPHA:3000 ORPHA:235 OMIM:617863 OMIM:619005 OMIM:618918 OMIM:619087 ORPHA:1596 ORPHA:93932 ORPHA:776 OMIM:305450 OMIM:618872 OMIM:618009 OMIM:618665 OMIM:617787 OMIM:619157 ORPHA:647 ORPHA:649 ORPHA:363700 ORPHA:401986 ORPHA:261183 OMIM:301039 OMIM:618830 ORPHA:276198 ORPHA:401777 OMIM:117550 ORPHA:534 OMIM:619075 ORPHA:544488 ORPHA:137831 ORPHA:79254 ORPHA:216866 OMIM:618371 ORPHA:2637 OMIM:615007 OMIM:620021 OMIM:618725 OMIM:617991 ORPHA:589905 OMIM:619827 ORPHA:2461 OMIM:301030 ORPHA:163976 OMIM:617450 OMIM:618820 OMIM:619383 OMIM:619680 OMIM:605361 ORPHA:280397 OMIM:619539 OMIM:620038 OMIM:300830 OMIM:618342 ORPHA:1713 OMIM:616975 ORPHA:494344 OMIM:618761 OMIM:618402 ORPHA:251019 ORPHA:576283 OMIM:618195 OMIM:617935 OMIM:614306 OMIM:616078 ORPHA:404440 ORPHA:261222 ORPHA:261197 OMIM:300310 OMIM:619121 OMIM:607721 ORPHA:369873 OMIM:613406 OMIM:300352 OMIM:619191 OMIM:619293 OMIM:601358 ORPHA:77293 ORPHA:177907 ORPHA:313892 OMIM:618971 OMIM:619312 ORPHA:99013 ORPHA:137605 OMIM:611431 OMIM:619475 ORPHA:2044 OMIM:301022 OMIM:301013 ORPHA:281090 OMIM:300966 OMIM:618906 OMIM:619575 OMIM:301033 ORPHA:1727 OMIM:188400 OMIM:618798 OMIM:188570 OMIM:274300 OMIM:619908 ORPHA:52368 OMIM:617044 ORPHA:488618 OMIM:618050 OMIM:213980 OMIM:617028 OMIM:619556 OMIM:619243 OMIM:613003 OMIM:618351 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:191100 ORPHA:90674 ORPHA:467166 ORPHA:300573 ORPHA:238446 OMIM:619639 ORPHA:500055 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:619227 OMIM:617665 OMIM:617557 ORPHA:506358 OMIM:618659 OMIM:619522 OMIM:619188
 

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