Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Impairment in personality functioning (HP:0031466)help
..Starting node
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Emotional lability (HP:0000712)help
Term ID: 712
Name: Emotional lability
Synonym: Emotional instability; Mood alterations; Mood changes; Mood lability; Mood swings
Definition: Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.
Comments:
Reference: HP:0000712
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal fear/anxiety-related behavior (HP:0100852) help
..expandAnhedonia (HP:0012154) help
..expandBipolar affective disorder (HP:0007302) help
..expandDepression (HP:0000716) help
..expandDisinhibition (HP:0000734) help
..expandHostility (HP:0031473) help
..expandInappropriate behavior (HP:0000719) help
..expandLow self esteem (HP:0031469) help
..expandNegative affectivity (HP:0031467) help
..expandPersonality disorder (HP:0012075) help
..expandSeparation insecurity (HP:0031468) 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:0000712HP:0000712Emotional lability0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0000712HP:0000712Emotional lability0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040284 - Very rare54
HP:0000712HP:0000712Emotional lability0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent32
HP:0000712HP:0000712Emotional lability0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0000712HP:0000712Emotional lability0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0000712HP:0000712Emotional lability0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0000712HP:0000712Emotional lability0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0000712HP:0000712Emotional lability0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0000712HP:0000712Emotional lability0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional253
HP:0000712HP:0000712Emotional lability0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0000712HP:0000712Emotional lability0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0000712HP:0000712Emotional lability0ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0000712HP:0000712Emotional lability0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040283 - Occasional150
HP:0000712HP:0000712Emotional lability0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0000712HP:0000712Emotional lability0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0000712HP:0000712Emotional lability0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0000712HP:0000712Emotional lability0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040284 - Very rare184
HP:0000712HP:0000712Emotional lability0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0000712HP:0000712Emotional lability0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0000712HP:0000712Emotional lability0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0000712HP:0000712Emotional lability0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional53
HP:0000712HP:0000712Emotional lability0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0000712HP:0000712Emotional lability0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent56
HP:0000712HP:0000712Emotional lability0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0000712HP:0000712Emotional lability0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent272
HP:0000712HP:0000712Emotional lability0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0000712HP:0000712Emotional lability0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0000712HP:0000712Emotional lability0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0000712HP:0000712Emotional lability0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0000712HP:0000712Emotional lability0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent42
HP:0000712HP:0000712Emotional lability0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional9
HP:0000712HP:0000712Emotional lability0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional27
HP:0000712HP:0000712Emotional lability0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040281 - Very frequent
HP:0000712HP:0000712Emotional lability0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0000712HP:0000712Emotional lability0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0000712HP:0000712Emotional lability0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0000712HP:0000712Emotional lability0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0000712HP:0000712Emotional lability0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0000712HP:0000712Emotional lability0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0000712HP:0000712Emotional lability0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent86
HP:0000712HP:0000712Emotional lability0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0000712HP:0000712Emotional lability0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder33
HP:0000712HP:0000712Emotional lability0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0000712HP:0000712Emotional lability0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 2433
HP:0000712HP:0000712Emotional lability0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0000712HP:0000712Emotional lability0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0000712HP:0000712Emotional lability0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0000712HP:0000712Emotional lability0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0000712HP:0000712Emotional lability0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0000712HP:0000712Emotional lability0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0000712HP:0000712Emotional lability0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0000712HP:0000712Emotional lability0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0000712HP:0000712Emotional lability0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0000712HP:0000712Emotional lability0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0000712HP:0000712Emotional lability0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0000712HP:0000712Emotional lability0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0000712HP:0000712Emotional lability0EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0000712HP:0000712Emotional lability0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent15
HP:0000712HP:0000712Emotional lability0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0000712HP:0000712Emotional lability0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent111
HP:0000712HP:0000712Emotional lability0FMO3 CL E G H23283771ORPHA:468726Severe primary trimethylaminuriaHP:0040282 - Frequent55
HP:0000712HP:0000712Emotional lability0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0000712HP:0000712Emotional lability0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0000712HP:0000712Emotional lability0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0000712HP:0000712Emotional lability0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0000712HP:0000712Emotional lability0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040284 - Very rare3
HP:0000712HP:0000712Emotional lability0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional139
HP:0000712HP:0000712Emotional lability0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0000712HP:0000712Emotional lability0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent45
HP:0000712HP:0000712Emotional lability0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0000712HP:0000712Emotional lability0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent16
HP:0000712HP:0000712Emotional lability0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0000712HP:0000712Emotional lability0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0000712HP:0000712Emotional lability0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000712HP:0000712Emotional lability0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0000712HP:0000712Emotional lability0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional434
HP:0000712HP:0000712Emotional lability0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0000712HP:0000712Emotional lability0HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to.
HP:0000712HP:0000712Emotional lability0HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to.2
HP:0000712HP:0000712Emotional lability0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0000712HP:0000712Emotional lability0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000712HP:0000712Emotional lability0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0000712HP:0000712Emotional lability0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0000712HP:0000712Emotional lability0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency46
HP:0000712HP:0000712Emotional lability0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040282 - Frequent46
HP:0000712HP:0000712Emotional lability0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0000712HP:0000712Emotional lability0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000712HP:0000712Emotional lability0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent80
HP:0000712HP:0000712Emotional lability0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000712HP:0000712Emotional lability0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000712HP:0000712Emotional lability0MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 2HP:0040283 - Occasional1
HP:0000712HP:0000712Emotional lability0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0000712HP:0000712Emotional lability0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040283 - Occasional19
HP:0000712HP:0000712Emotional lability0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessiveHP:0040283 - Occasional19
HP:0000712HP:0000712Emotional lability0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040283 - Occasional36
HP:0000712HP:0000712Emotional lability0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0000712HP:0000712Emotional lability0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0000712HP:0000712Emotional lability0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0000712HP:0000712Emotional lability0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0000712HP:0000712Emotional lability0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0000712HP:0000712Emotional lability0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000712HP:0000712Emotional lability0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0000712HP:0000712Emotional lability0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0000712HP:0000712Emotional lability0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0000712HP:0000712Emotional lability0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0000712HP:0000712Emotional lability0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0000712HP:0000712Emotional lability0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0000712HP:0000712Emotional lability0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000712HP:0000712Emotional lability0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0000712HP:0000712Emotional lability0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0000712HP:0000712Emotional lability0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0000712HP:0000712Emotional lability0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000712HP:0000712Emotional lability0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent24
HP:0000712HP:0000712Emotional lability0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent101
HP:0000712HP:0000712Emotional lability0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040284 - Very rare220
HP:0000712HP:0000712Emotional lability0NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040282 - Frequent77
HP:0000712HP:0000712Emotional lability0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040282 - Frequent144
HP:0000712HP:0000712Emotional lability0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0000712HP:0000712Emotional lability0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosisHP:0040282 - Frequent97
HP:0000712HP:0000712Emotional lability0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0000712HP:0000712Emotional lability0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0000712HP:0000712Emotional lability0PDCD1 CL E G H51338760OMIM:126200Multiple sclerosis, susceptibility to.1
HP:0000712HP:0000712Emotional lability0PDCD6IP CL E G H100158766OMIM:620047
HP:0000712HP:0000712Emotional lability0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0000712HP:0000712Emotional lability0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0000712HP:0000712Emotional lability0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0000712HP:0000712Emotional lability0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040284 - Very rare9
HP:0000712HP:0000712Emotional lability0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0000712HP:0000712Emotional lability0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0000712HP:0000712Emotional lability0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0000712HP:0000712Emotional lability0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency.21
HP:0000712HP:0000712Emotional lability0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040284 - Very rare162
HP:0000712HP:0000712Emotional lability0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0000712HP:0000712Emotional lability0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0000712HP:0000712Emotional lability0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0000712HP:0000712Emotional lability0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0000712HP:0000712Emotional lability0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0000712HP:0000712Emotional lability0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent2
HP:0000712HP:0000712Emotional lability0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0000712HP:0000712Emotional lability0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0000712HP:0000712Emotional lability0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0000712HP:0000712Emotional lability0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0000712HP:0000712Emotional lability0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0000712HP:0000712Emotional lability0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0000712HP:0000712Emotional lability0PRNP CL E G H56219449ORPHA:280397Familial Alzheimer-like prion diseaseHP:0040281 - Very frequent69
HP:0000712HP:0000712Emotional lability0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0000712HP:0000712Emotional lability0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0000712HP:0000712Emotional lability0PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent25
HP:0000712HP:0000712Emotional lability0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0000712HP:0000712Emotional lability0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0000712HP:0000712Emotional lability0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional81
HP:0000712HP:0000712Emotional lability0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0000712HP:0000712Emotional lability0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0000712HP:0000712Emotional lability0SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0000712HP:0000712Emotional lability0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000712HP:0000712Emotional lability0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0000712HP:0000712Emotional lability0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0000712HP:0000712Emotional lability0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0000712HP:0000712Emotional lability0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0000712HP:0000712Emotional lability0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0000712HP:0000712Emotional lability0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0000712HP:0000712Emotional lability0SLC6A19 CL E G H34002427960ORPHA:2116Hartnup diseaseHP:0040281 - Very frequent12
HP:0000712HP:0000712Emotional lability0SLC6A19 CL E G H34002427960OMIM:234500Hartnup disorder.12
HP:0000712HP:0000712Emotional lability0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040284 - Very rare87
HP:0000712HP:0000712Emotional lability0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040284 - Very rare47
HP:0000712HP:0000712Emotional lability0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040284 - Very rare22
HP:0000712HP:0000712Emotional lability0SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0000712HP:0000712Emotional lability0SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent53
HP:0000712HP:0000712Emotional lability0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040283 - Occasional66
HP:0000712HP:0000712Emotional lability0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0000712HP:0000712Emotional lability0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0000712HP:0000712Emotional lability0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000712HP:0000712Emotional lability0SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0000712HP:0000712Emotional lability0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional50
HP:0000712HP:0000712Emotional lability0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040284 - Very rare124
HP:0000712HP:0000712Emotional lability0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0000712HP:0000712Emotional lability0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0000712HP:0000712Emotional lability0TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0000712HP:0000712Emotional lability0TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent65
HP:0000712HP:0000712Emotional lability0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0000712HP:0000712Emotional lability0TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0000712HP:0000712Emotional lability0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome32
HP:0000712HP:0000712Emotional lability0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040284 - Very rare238
HP:0000712HP:0000712Emotional lability0TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 542
HP:0000712HP:0000712Emotional lability0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0000712HP:0000712Emotional lability0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040284 - Very rare
HP:0000712HP:0000712Emotional lability0TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0000712HP:0000712Emotional lability0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0000712HP:0000712Emotional lability0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0000712HP:0000712Emotional lability0UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0000712HP:0000712Emotional lability0UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0000712HP:0000712Emotional lability0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0000712HP:0000712Emotional lability0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0000712HP:0000712Emotional lability0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0000712HP:0000712Emotional lability0VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent116
HP:0000712HP:0000712Emotional lability0VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent63
HP:0000712HP:0000712Emotional lability0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0000712HP:0000712Emotional lability0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0000712HP:0000712Emotional lability0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0000712HP:0000712Emotional lability0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive189


Genes (170) :AIP AKT1 ANG ANXA11 ARMC5 ARSA ATP1A2 ATP1A3 ATRX ATXN2 B4GALNT1 BAP1 BCS1L BPTF BRAF BSND C19ORF12 C9ORF72 CACNA1A CASR CCNF CDH23 CFAP410 CHCHD10 CHMP2B CLCNKA CLCNKB CLTRN COX15 CREBBP CTSF CUL4B DAO DCTN1 DDC DEAF1 DGCR2 DGCR6 DGCR8 ECHS1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELP1 EP300 EPHA4 EPM2A ERBB4 ESS2 FIG4 FMO3 FOXRED1 FTL FUS FUZ GABRG2 GALC GLE1 GLT8D1 GNA11 GNAS GRIK2 GRIN2A HDAC8 HLA-DQB1 HLA-DRB1 HNRNPA1 HTRA1 LAS1L LEPR LIPT1 MAPK8IP3 MATR3 MECP2 MED12 MIR17HG MTFMT MTPAP NAGS NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEFH NEK1 NF2 NHLRC1 NOTCH3 NR3C1 NTRK1 OPTN PANK2 PDCD1 PDCD6IP PDE11A PDE8B PDGFB PDHA1 PET100 PFN1 PGK1 PIK3CA PLA2G6 POLG PON1 PON2 PON3 PPARGC1A PRKACA PRKAR1A PRNP PRPH PSAP PSMD12 RNF168 SARDH SATB2 SDHA SLC19A3 SLC1A3 SLC39A4 SLC6A17 SLC6A19 SMARCB1 SMARCE1 SMO SNORD118 SOD1 SPART SPG11 SPTBN1 SQSTM1 SRPX2 SUFU SURF1 TACO1 TAF15 TARDBP TBK1 TBX1 TERT TNIK TP53 TRAF7 TREM2 TUBB3 TWNK UBQLN2 UNC13A USP48 USP8 VAPB VCP VPS13A ZFYVE26

Diseases (90) :OMIM:219090 ORPHA:2495 ORPHA:803 ORPHA:189427 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:2131 OMIM:128235 ORPHA:71517 ORPHA:96253 OMIM:609195 OMIM:124000 ORPHA:529962 ORPHA:89938 OMIM:614298 ORPHA:428 ORPHA:2116 ORPHA:255241 ORPHA:353281 ORPHA:353277 OMIM:615362 OMIM:300354 OMIM:608643 OMIM:617171 ORPHA:468620 OMIM:615828 OMIM:192430 OMIM:603896 OMIM:223900 ORPHA:353284 ORPHA:501 ORPHA:468726 OMIM:606159 ORPHA:157846 ORPHA:1136 ORPHA:1945 ORPHA:206443 OMIM:219080 OMIM:619580 ORPHA:98818 ORPHA:3459 OMIM:126200 ORPHA:199354 OMIM:309585 OMIM:614963 ORPHA:179494 OMIM:618443 OMIM:300055 OMIM:309520 ORPHA:391646 ORPHA:254343 OMIM:613672 ORPHA:927 ORPHA:136 OMIM:256800 ORPHA:216873 OMIM:620047 OMIM:610475 ORPHA:189439 OMIM:300653 ORPHA:35069 OMIM:610217 OMIM:258450 OMIM:607459 OMIM:615830 OMIM:610489 ORPHA:280397 OMIM:137440 ORPHA:282166 ORPHA:420741 ORPHA:3129 ORPHA:251028 ORPHA:37 OMIM:201100 ORPHA:457212 OMIM:234500 ORPHA:542310 ORPHA:101000 OMIM:275900 ORPHA:2822 OMIM:619475 OMIM:612069 OMIM:617028 ORPHA:300570 ORPHA:435387 OMIM:200150 ORPHA:2388 OMIM:270700
 

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