Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Behavioral abnormality (HP:0000708)

Parent Node:
Impairment in personality functioning (HP:0031466)

..Starting node
..Abnormal fear/anxiety-related behavior (HP:0100852)

Term ID:

100852

Name:

Abnormal fear/anxiety-related behavior

Synonym:

Abnormal fear/anxiety-related behaviour

Definition:

An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.

Comments:

Reference:

HP:0100852

Genes and Diseases:

Child Nodes:

........

Anxiety (HP:0000739)

................... HP:0000740 Episodic paroxysmal anxiety

........

Agoraphobia (HP:0000756)

........

Claustrophobia (HP:0025253)

........

Panic attack (HP:0025269)

Sister Nodes:

Anhedonia (HP:0012154)

Bipolar affective disorder (HP:0007302)

Depression (HP:0000716)

Disinhibition (HP:0000734)

Emotional lability (HP:0000712)

Hostility (HP:0031473)

Inappropriate behavior (HP:0000719)

Low self esteem (HP:0031469)

Negative affectivity (HP:0031467)

Personality disorder (HP:0012075)

Separation insecurity (HP:0031468)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100852	HP:0100852	Abnormal fear/anxiety-related behavior	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	867	358	605555
HP:0100852	HP:0100852	Abnormal fear/anxiety-related behavior	0	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	158	12631	603158
HP:0100852	HP:0000756	Agoraphobia	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	867	358	605555
HP:0100852	HP:0025269	Panic attack	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	867	358	605555
HP:0100852	HP:0025253	Claustrophobia	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	867	358	605555
HP:0100852	HP:0000739	Anxiety	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	867	358	605555
HP:0100852	HP:0033845	Sense of impending doom	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	867	358	605555
HP:0100852	HP:0033845	Sense of impending doom	1	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	158	12631	603158
HP:0100852	HP:0000739	Anxiety	1	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	158	12631	603158
HP:0100852	HP:0025269	Panic attack	1	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	158	12631	603158
HP:0100852	HP:0000756	Agoraphobia	1	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	158	12631	603158
HP:0100852	HP:0025253	Claustrophobia	1	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	158	12631	603158
HP:0100852	HP:0000740	Episodic paroxysmal anxiety	2	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	867	358	605555
HP:0100852	HP:0000740	Episodic paroxysmal anxiety	2	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	158	12631	603158
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (232) :ACSL4 ADCY5 ADGRV1 AIP ALDH5A1 ANG ANOS1 ANXA11 ARID2 ARSG ARVCF ASH1L ATP1A3 ATXN2 BAZ1B BCL11B BPTF C9ORF72 CACNA1A CASR CCNF CDH23 CEP78 CFAP410 CHCHD10 CHD7 CHMP2B CIB2 CIZ1 CLCN4 CLIP2 CLN3 CLRN1 COMT COQ2 COX1 COX2 COX3 CPOX CREBBP DAO DCTN1 DEAF1 DRD2 DUSP6 EHMT1 ELN EP300 EPCAM EPHA4 ERBB4 FAN1 FGF17 FGF8 FGFR1 FH FIG4 FLII FMR1 FUS GCH1 GLA GLE1 GM2A GNA11 GNAS GNRH1 GNRHR GP1BB GPR101 GRN GTF2I GTF2IRD1 HARS HBB HDAC8 HIRA HIVEP2 HMBS HNRNPA1 HNRNPH2 HS6ST1 HSPG2 IGF1R IQSEC2 JMJD1C JPH3 KANSL1 KCTD17 KIF1B KISS1 KISS1R KMT2A KPTN KRAS LIMK1 MAPT MATR3 MAX MDH2 MECP2 MEN1 MLH1 MLH3 MLXIPL MSH2 MSH6 MSTO1 MYO7A ND1 ND4 ND5 ND6 NDP NEFH NEK1 NFIB NFIX NIPBL NKX2-1 NR3C1 NSMF OCRL OPTN PAH PAK3 PARK7 PCDH15 PDE10A PDE11A PDGFB PDGFRB PDZD7 PFN1 PHIP PIK3CA PINK1 PMS1 PMS2 POLG POLG2 PON1 PON2 PON3 PPARGC1A PPM1D PPOX PPP2R2B PQBP1 PRKAR1A PRKAR1B PRNP PROK2 PROKR2 PRPH PRRT2 PSEN1 PSMD12 RAD21 RAI1 RET RFC2 RLIM RNF125 RREB1 RRM2B SATB2 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SETD2 SETD5 SGCE SLC25A4 SLC35C1 SLC45A1 SLC6A19 SMC1A SMC3 SOD1 SOX5 SPART SPECC1L SPRY4 SQSTM1 STUB1 STX16 TAC3 TACR3 TAF1 TAF15 TARDBP TBK1 TBL2 TBX1 TGFBR2 TLK2 TMCO1 TMEM106B TMEM127 TOR1A TP53 TREM2 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTC19 TWNK UBQLN2 UFD1 UNC13A USH1C USH1G USH2A USP8 VAPB VCP VHL VPS13A WAC WDR11 WFS1 WHRN XK YWHAG

Diseases (124) :219090 300387 606703 231178 963 271980 803 432 617808 231183 567 617796 71517 128235 904 618092 529962 100070 401901 141500 428 96253 231169 420492 300114 204200 98933 227510 550 79273 121300 180849 819 36899 96147 194050 144 29072 908 93256 300623 98808 324 309246 79444 94089 79443 219080 231214 199 616977 79276 176000 300986 800 270450 606438 610443 616398 319182 615637 300260 97279 502423 617675 649 618286 614753 118700 615962 534 261600 300558 606324 494541 610475 615483 616592 617991 605909 254892 617450 79473 604326 309500 610489 412066 280397 282166 603218 123400 602066 1713 300978 616260 613077 251019 616831 159900 266265 617532 2116 313892 616803 101000 145420 618093 300966 1727 618050 213980 1501 615157 329478 2388 200150 616708 411590 614296 300842 617665 115310 605373 168000

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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