Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Abnormal emotion/affect behavior (HP:0100851)help
..Starting node
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Irritability (HP:0000737)help
Term ID: 737
Name: Irritability
Synonym: Irritability; Irritable
Definition: A proneness to anger, i.e., a condition of being easily bothered or annoyed.
Comments:
Reference: HP:0000737
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal aggressive, impulsive or violent behavior (HP:0006919) help
..expandConspicuously happy disposition (HP:0100024) help
..expandDiminished motivation (HP:0000745) help
..expandEmotional blunting (HP:0030213) help
..expandEuphoria (HP:0031844) help
..expandHappy demeanor (HP:0040082) help
..expandobsolete Mood changes (HP:0001575) help
..expandobsolete Mood swings (HP:0000720) help
..expandSuicidal ideation (HP:0031589) help
..expandUnhappy demeanor (HP:0031588) 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:0000737HP:0000737Irritability0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0000737HP:0000737Irritability0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0000737HP:0000737Irritability0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0000737HP:0000737Irritability0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional27
HP:0000737HP:0000737Irritability0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0000737HP:0000737Irritability0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0000737HP:0000737Irritability0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0000737HP:0000737Irritability0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040282 - Frequent60
HP:0000737HP:0000737Irritability0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsyHP:0040282 - Frequent227
HP:0000737HP:0000737Irritability0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000737HP:0000737Irritability0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0000737HP:0000737Irritability0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0000737HP:0000737Irritability0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional6
HP:0000737HP:0000737Irritability0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0000737HP:0000737Irritability0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 2.75
HP:0000737HP:0000737Irritability0ARG1 CL E G H383663OMIM:207800Argininemia.31
HP:0000737HP:0000737Irritability0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0000737HP:0000737Irritability0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0000737HP:0000737Irritability0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0000737HP:0000737Irritability0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000737HP:0000737Irritability0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0000737HP:0000737Irritability0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040282 - Frequent48
HP:0000737HP:0000737Irritability0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0000737HP:0000737Irritability0ATP5F1A CL E G H498823OMIM:615228Mitochondrial complex V (atp synthase) deficiency, nuclear type 4.
HP:0000737HP:0000737Irritability0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0000737HP:0000737Irritability0AVP CL E G H551894ORPHA:30925Hereditary central diabetes insipidusHP:0040282 - Frequent22
HP:0000737HP:0000737Irritability0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0000737HP:0000737Irritability0AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis.67
HP:0000737HP:0000737Irritability0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent385
HP:0000737HP:0000737Irritability0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000737HP:0000737Irritability0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0000737HP:0000737Irritability0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancyHP:0040282 - Frequent449
HP:0000737HP:0000737Irritability0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000737HP:0000737Irritability0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000737HP:0000737Irritability0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional105
HP:0000737HP:0000737Irritability0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0000737HP:0000737Irritability0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000737HP:0000737Irritability0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0000737HP:0000737Irritability0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000737HP:0000737Irritability0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000737HP:0000737Irritability0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0000737HP:0000737Irritability0CLN8 CL E G H20552079OMIM:610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant.111
HP:0000737HP:0000737Irritability0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040283 - Occasional7
HP:0000737HP:0000737Irritability0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000737HP:0000737Irritability0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0000737HP:0000737Irritability0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj.67
HP:0000737HP:0000737Irritability0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional161
HP:0000737HP:0000737Irritability0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional35
HP:0000737HP:0000737Irritability0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0000737HP:0000737Irritability0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional12
HP:0000737HP:0000737Irritability0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0000737HP:0000737Irritability0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional41
HP:0000737HP:0000737Irritability0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0000737HP:0000737Irritability0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional5
HP:0000737HP:0000737Irritability0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000737HP:0000737Irritability0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutationHP:0040283 - Occasional145
HP:0000737HP:0000737Irritability0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0000737HP:0000737Irritability0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000737HP:0000737Irritability0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0000737HP:0000737Irritability0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000737HP:0000737Irritability0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000737HP:0000737Irritability0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000737HP:0000737Irritability0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0000737HP:0000737Irritability0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000737HP:0000737Irritability0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000737HP:0000737Irritability0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE.145
HP:0000737HP:0000737Irritability0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000737HP:0000737Irritability0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0000737HP:0000737Irritability0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0000737HP:0000737Irritability0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0000737HP:0000737Irritability0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040282 - Frequent170
HP:0000737HP:0000737Irritability0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040282 - Frequent170
HP:0000737HP:0000737Irritability0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000737HP:0000737Irritability0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0000737HP:0000737Irritability0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0000737HP:0000737Irritability0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040282 - Frequent15
HP:0000737HP:0000737Irritability0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0000737HP:0000737Irritability0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0000737HP:0000737Irritability0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0000737HP:0000737Irritability0FBP2 CL E G H87893607OMIM:619864
HP:0000737HP:0000737Irritability0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000737HP:0000737Irritability0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000737HP:0000737Irritability0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0000737HP:0000737Irritability0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000737HP:0000737Irritability0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000737HP:0000737Irritability0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0000737HP:0000737Irritability0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000737HP:0000737Irritability0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000737HP:0000737Irritability0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000737HP:0000737Irritability0FOCAD CL E G H5491423377OMIM:6199913
HP:0000737HP:0000737Irritability0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000737HP:0000737Irritability0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000737HP:0000737Irritability0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0000737HP:0000737Irritability0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000737HP:0000737Irritability0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000737HP:0000737Irritability0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0000737HP:0000737Irritability0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent160
HP:0000737HP:0000737Irritability0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040284 - Very rare160
HP:0000737HP:0000737Irritability0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000737HP:0000737Irritability0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0000737HP:0000737Irritability0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000737HP:0000737Irritability0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000737HP:0000737Irritability0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0000737HP:0000737Irritability0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0000737HP:0000737Irritability0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0000737HP:0000737Irritability0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000737HP:0000737Irritability0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0000737HP:0000737Irritability0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000737HP:0000737Irritability0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000737HP:0000737Irritability0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040283 - Occasional17
HP:0000737HP:0000737Irritability0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0000737HP:0000737Irritability0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0000737HP:0000737Irritability0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0000737HP:0000737Irritability0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.HP:0003623 - Neonatal onset
HP:0000737HP:0000737Irritability0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0000737HP:0000737Irritability0GYS2 CL E G H29984707ORPHA:2089Glycogen storage disease due to hepatic glycogen synthase deficiencyHP:0040282 - Frequent100
HP:0000737HP:0000737Irritability0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0000737HP:0000737Irritability0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0000737HP:0000737Irritability0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040283 - Occasional32
HP:0000737HP:0000737Irritability0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0000737HP:0000737Irritability0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0000737HP:0000737Irritability0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040281 - Very frequent148
HP:0000737HP:0000737Irritability0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0000737HP:0000737Irritability0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0000737HP:0000737Irritability0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000737HP:0000737Irritability0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0000737HP:0000737Irritability0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0000737HP:0000737Irritability0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0000737HP:0000737Irritability0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0000737HP:0000737Irritability0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.HP:0003623 - Neonatal onset28
HP:0000737HP:0000737Irritability0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0000737HP:0000737Irritability0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000737HP:0000737Irritability0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000737HP:0000737Irritability0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional135
HP:0000737HP:0000737Irritability0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0000737HP:0000737Irritability0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0000737HP:0000737Irritability0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040282 - Frequent196
HP:0000737HP:0000737Irritability0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0000737HP:0000737Irritability0LSM11 CL E G H13435330860OMIM:619486AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0000737HP:0000737Irritability0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional59
HP:0000737HP:0000737Irritability0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0000737HP:0000737Irritability0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0000737HP:0000737Irritability0MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0000737HP:0000737Irritability0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0000737HP:0000737Irritability0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040281 - Very frequent950
HP:0000737HP:0000737Irritability0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000737HP:0000737Irritability0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0000737HP:0000737Irritability0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0000737HP:0000737Irritability0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040282 - Frequent1819
HP:0000737HP:0000737Irritability0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040282 - Frequent131
HP:0000737HP:0000737Irritability0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0000737HP:0000737Irritability0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040282 - Frequent2162
HP:0000737HP:0000737Irritability0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040282 - Frequent2232
HP:0000737HP:0000737Irritability0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0000737HP:0000737Irritability0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000737HP:0000737Irritability0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000737HP:0000737Irritability0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0000737HP:0000737Irritability0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040281 - Very frequent1
HP:0000737HP:0000737Irritability0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
HP:0000737HP:0000737Irritability0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0000737HP:0000737Irritability0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0000737HP:0000737Irritability0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0000737HP:0000737Irritability0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 15.50
HP:0000737HP:0000737Irritability0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0000737HP:0000737Irritability0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0000737HP:0000737Irritability0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0000737HP:0000737Irritability0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0000737HP:0000737Irritability0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0000737HP:0000737Irritability0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0000737HP:0000737Irritability0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0000737HP:0000737Irritability0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional241
HP:0000737HP:0000737Irritability0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional69
HP:0000737HP:0000737Irritability0NRCAM CL E G H48977994OMIM:6198332
HP:0000737HP:0000737Irritability0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000737HP:0000737Irritability0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000737HP:0000737Irritability0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0000737HP:0000737Irritability0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0000737HP:0000737Irritability0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0000737HP:0000737Irritability0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0000737HP:0000737Irritability0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0000737HP:0000737Irritability0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to.369
HP:0000737HP:0000737Irritability0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0000737HP:0000737Irritability0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional39
HP:0000737HP:0000737Irritability0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiencyHP:0040283 - Occasional24
HP:0000737HP:0000737Irritability0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040282 - Frequent
HP:0000737HP:0000737Irritability0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0000737HP:0000737Irritability0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040282 - Frequent162
HP:0000737HP:0000737Irritability0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional118
HP:0000737HP:0000737Irritability0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0000737HP:0000737Irritability0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent6
HP:0000737HP:0000737Irritability0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsyHP:0040282 - Frequent6
HP:0000737HP:0000737Irritability0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040282 - Frequent56
HP:0000737HP:0000737Irritability0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040282 - Frequent1121
HP:0000737HP:0000737Irritability0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000737HP:0000737Irritability0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0000737HP:0000737Irritability0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 2.58
HP:0000737HP:0000737Irritability0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0000737HP:0000737Irritability0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0000737HP:0000737Irritability0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0000737HP:0000737Irritability0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional94
HP:0000737HP:0000737Irritability0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent81
HP:0000737HP:0000737Irritability0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0000737HP:0000737Irritability0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0000737HP:0000737Irritability0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0000737HP:0000737Irritability0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0000737HP:0000737Irritability0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0000737HP:0000737Irritability0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0000737HP:0000737Irritability0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0000737HP:0000737Irritability0PTH CL E G H57419606OMIM:146200Hypoparathyroidism, familial isolated16
HP:0000737HP:0000737Irritability0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional2
HP:0000737HP:0000737Irritability0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0000737HP:0000737Irritability0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000737HP:0000737Irritability0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040283 - Occasional71
HP:0000737HP:0000737Irritability0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0000737HP:0000737Irritability0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0000737HP:0000737Irritability0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0000737HP:0000737Irritability0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0000737HP:0000737Irritability0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000737HP:0000737Irritability0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000737HP:0000737Irritability0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0000737HP:0000737Irritability0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000737HP:0000737Irritability0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent1
HP:0000737HP:0000737Irritability0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0000737HP:0000737Irritability0SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 5.55
HP:0000737HP:0000737Irritability0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0000737HP:0000737Irritability0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0000737HP:0000737Irritability0SDHAF1 CL E G H64409633867OMIM:619166MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN216
HP:0000737HP:0000737Irritability0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0000737HP:0000737Irritability0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0000737HP:0000737Irritability0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0000737HP:0000737Irritability0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent48
HP:0000737HP:0000737Irritability0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0000737HP:0000737Irritability0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0000737HP:0000737Irritability0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0000737HP:0000737Irritability0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0000737HP:0000737Irritability0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0000737HP:0000737Irritability0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000737HP:0000737Irritability0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000737HP:0000737Irritability0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000737HP:0000737Irritability0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000737HP:0000737Irritability0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0000737HP:0000737Irritability0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040282 - Frequent110
HP:0000737HP:0000737Irritability0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2).110
HP:0000737HP:0000737Irritability0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0000737HP:0000737Irritability0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0000737HP:0000737Irritability0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0000737HP:0000737Irritability0SLC25A1 CL E G H657610979OMIM:615182Combined d-2- and l-2-hydroxyglutaric aciduria.28
HP:0000737HP:0000737Irritability0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040282 - Frequent82
HP:0000737HP:0000737Irritability0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040281 - Very frequent36
HP:0000737HP:0000737Irritability0SLC25A19 CL E G H6038614409OMIM:607196Microcephaly, Amish type.36
HP:0000737HP:0000737Irritability0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0000737HP:0000737Irritability0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0000737HP:0000737Irritability0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2HP:0040283 - Occasional255
HP:0000737HP:0000737Irritability0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional255
HP:0000737HP:0000737Irritability0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0000737HP:0000737Irritability0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0000737HP:0000737Irritability0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0000737HP:0000737Irritability0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0000737HP:0000737Irritability0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0000737HP:0000737Irritability0SMARCB1 CL E G H659811103ORPHA:99966Atypical teratoid rhabdoid tumorHP:0040281 - Very frequent87
HP:0000737HP:0000737Irritability0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0000737HP:0000737Irritability0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0000737HP:0000737Irritability0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000737HP:0000737Irritability0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0000737HP:0000737Irritability0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0000737HP:0000737Irritability0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0000737HP:0000737Irritability0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000737HP:0000737Irritability0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000737HP:0000737Irritability0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000737HP:0000737Irritability0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0000737HP:0000737Irritability0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0000737HP:0000737Irritability0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0000737HP:0000737Irritability0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0000737HP:0000737Irritability0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0000737HP:0000737Irritability0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0000737HP:0000737Irritability0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0000737HP:0000737Irritability0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0000737HP:0000737Irritability0TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency.57
HP:0000737HP:0000737Irritability0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000737HP:0000737Irritability0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0000737HP:0000737Irritability0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0000737HP:0000737Irritability0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000737HP:0000737Irritability0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0000737HP:0000737Irritability0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040282 - Frequent253
HP:0000737HP:0000737Irritability0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000737HP:0000737Irritability0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000737HP:0000737Irritability0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000737HP:0000737Irritability0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000737HP:0000737Irritability0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0000737HP:0000737Irritability0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0000737HP:0000737Irritability0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0000737HP:0000737Irritability0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0000737HP:0000737Irritability0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0000737HP:0000737Irritability0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0000737HP:0000737Irritability0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0000737HP:0000737Irritability0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent31
HP:0000737HP:0000737Irritability0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0000737HP:0000737Irritability0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0000737HP:0000737Irritability0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0000737HP:0000737Irritability0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0000737HP:0000737Irritability0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional107
HP:0000737HP:0000737Irritability0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2F3
HP:0000737HP:0000737Irritability0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0000737HP:0000737Irritability0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000737HP:0000737Irritability0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent22
HP:0000737HP:0000737Irritability0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0000737HP:0000737Irritability0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000737HP:0000737Irritability0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0000737HP:0000737Irritability0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0000737HP:0000737Irritability0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0000737HP:0000737Irritability0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000737HP:0000737Irritability0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0000737HP:0000737Irritability0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional177
HP:0000737HP:0000737Irritability0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000737HP:0000737Irritability0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0000737HP:0000737Irritability0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0000737HP:0000737Irritability0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0000737HP:0000737Irritability0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0000737HP:0000737Irritability0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent


Genes (246) :ABCC6 ABCC8 ACOX1 ACTN4 ADAR AIFM1 ALDH7A1 ALG9 ALPL AMT ANKFY1 ANLN APOL1 AQP2 ARG1 ARHGAP24 ARHGDIA ASAH1 ASH1L ASL ASPA ASS1 ATP5F1A ATP6 AVP AVPR2 BMPR1A C4A C9ORF72 CACNA1A CAMK2B CARS1 CCR1 CD2AP CDKN2A CDON CHMP2B CLN8 CLP1 CNP COG4 COL4A3 COQ8B CPS1 CRB2 CTNNB1 CYP27B1 CYP2R1 DAAM2 DARS1 DCX DDC DISP1 DLL1 DNMT1 DPYD EHMT1 EMP2 ENPP1 EPCAM ERAP1 EXOC8 EXOSC8 FAN1 FAS FBP1 FBP2 FDFT1 FGF8 FGFR1 FIG4 FMR1 FOCAD FOXG1 FOXH1 FOXRED1 GALC GAPVD1 GAS1 GCH1 GCSH GLDC GLI2 GLRX5 GNAS GRIA4 GRN GYS2 HBB HIBCH HLA-B HLA-DQB1 HLCS HSPG2 HTRA1 HTT IBA57 IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R INF2 ITPA JPH3 KLRC4 KRAS LSM11 MAGI2 MAPT MECP2 MED12 MED23 MEFV MLH1 MLH3 MOCS2 MSH2 MSH6 MYO1E NAA10 NAA20 NACC1 NAXD NAXE NDP NDUFA6 NDUFAF4 NDUFS1 NFIX NHLRC2 NODAL NPHS1 NPHS2 NRCAM NSDHL NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OSTM1 OTC PANK2 PAX2 PCBD1 PERCC1 PHGDH PIK3CA PLCE1 PLCH1 PLPBP PMS1 PMS2 POGZ PPT1 PRF1 PRKAR1A PRNP PRRT2 PSAP PSEN1 PTCH1 PTH PTPRO PTS PYCR2 PYGL QDPR RNASEH2A RNASEH2B RNASEH2C RNF13 RNU7-1 RPS20 SAMHD1 SDHA SDHAF1 SDHB SDHD SEMA4A SEPSECS SHH SIX3 SLC16A2 SLC19A3 SLC1A2 SLC1A4 SLC25A1 SLC25A13 SLC25A19 SLC25A20 SLC2A1 SLC2A3 SLC39A14 SLC39A4 SLC46A1 SLC6A3 SMARCB1 SMC1A SMPD1 SPTBN1 SQSTM1 ST3GAL3 ST3GAL5 STAG2 STAT4 STIL STUB1 STX16 SUCLA2 TBC1D8B TCN2 TDGF1 TERT TGFBR2 TGIF1 TH TK2 TLR4 TMEM106B TMEM237 TP53 TREM2 TREX1 TRMT5 TRMU TRPC6 TSEN15 TSPOAP1 TTI2 TYROBP UBA5 UBAC2 VCP VDR VPS13A VPS50 VPS53 WT1 YIF1B ZIC2 ZNRF3

Diseases (172) :ORPHA:51608 OMIM:240800 OMIM:264470 ORPHA:656 ORPHA:51 OMIM:615010 OMIM:300816 ORPHA:238329 ORPHA:3006 ORPHA:79328 OMIM:241500 OMIM:605899 OMIM:125800 OMIM:207800 OMIM:228000 OMIM:617796 OMIM:207900 ORPHA:314911 OMIM:215700 OMIM:615228 ORPHA:644 ORPHA:30925 OMIM:304800 OMIM:300539 ORPHA:440437 ORPHA:117 ORPHA:275864 ORPHA:71518 OMIM:617799 OMIM:618891 ORPHA:1501 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:610003 ORPHA:411493 OMIM:619071 ORPHA:263501 OMIM:613489 OMIM:237300 ORPHA:289157 OMIM:264700 OMIM:615281 ORPHA:2148 OMIM:608643 OMIM:614116 ORPHA:1675 ORPHA:96147 ORPHA:92050 ORPHA:144 OMIM:619076 OMIM:616081 ORPHA:348 OMIM:229700 OMIM:619864 OMIM:618156 OMIM:216340 ORPHA:449291 OMIM:619991 OMIM:613454 OMIM:618241 ORPHA:206436 ORPHA:206443 OMIM:233910 ORPHA:401866 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:617864 ORPHA:2089 ORPHA:231214 ORPHA:231226 ORPHA:88639 OMIM:123400 ORPHA:79242 OMIM:253270 ORPHA:800 ORPHA:199354 ORPHA:399 ORPHA:248111 OMIM:615330 OMIM:615846 OMIM:616647 OMIM:606438 OMIM:619486 OMIM:600274 OMIM:172700 OMIM:601104 ORPHA:3077 OMIM:301068 OMIM:614249 OMIM:252160 OMIM:300855 OMIM:619717 OMIM:617393 ORPHA:500545 OMIM:618321 OMIM:617186 ORPHA:649 OMIM:618253 OMIM:618237 OMIM:618226 ORPHA:447980 OMIM:618278 OMIM:619833 OMIM:300831 ORPHA:251383 OMIM:259720 OMIM:311250 ORPHA:216873 ORPHA:1578 ORPHA:79351 OMIM:617290 OMIM:616364 OMIM:256730 OMIM:603553 ORPHA:282166 ORPHA:98811 OMIM:146200 OMIM:261640 ORPHA:481152 ORPHA:369 OMIM:261630 OMIM:618379 ORPHA:544503 OMIM:619487 OMIM:612952 ORPHA:3208 OMIM:619166 OMIM:619224 OMIM:613811 OMIM:300523 ORPHA:263410 OMIM:607483 OMIM:617105 OMIM:616657 ORPHA:447997 OMIM:615182 ORPHA:247585 ORPHA:99742 OMIM:607196 ORPHA:159 OMIM:212138 OMIM:612126 OMIM:617013 OMIM:201100 OMIM:229050 ORPHA:238455 ORPHA:99966 OMIM:257200 OMIM:619475 OMIM:615006 OMIM:609056 OMIM:618093 OMIM:612073 OMIM:275350 ORPHA:101150 OMIM:609560 OMIM:614424 ORPHA:2770 ORPHA:247691 OMIM:616539 OMIM:613070 OMIM:617026 ORPHA:391307 OMIM:617132 OMIM:277440 ORPHA:2388 OMIM:619685 OMIM:615851 OMIM:619125
 

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