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:
Abnormal emotion/affect behavior (HP:0100851)

..Starting node
..obsolete Mood changes (HP:0001575)

Term ID:

1575

Name:

obsolete Mood changes

Synonym:

Definition:

Comments:

Reference:

HP:0001575

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal aggressive, impulsive or violent behavior (HP:0006919)

Conspicuously happy disposition (HP:0100024)

Diminished motivation (HP:0000745)

Emotional blunting (HP:0030213)

Euphoria (HP:0031844)

Happy demeanor (HP:0040082)

Irritability (HP:0000737)

Mood swings (HP:0000720)

Suicidal ideation (HP:0031589)

Unhappy demeanor (HP:0031588)

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:0001575	HP:0001575	obsolete Mood changes	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	867	358	605555
HP:0001575	HP:0001575	obsolete Mood changes	0	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	644	4392	139320
HP:0001575	HP:0001575	obsolete Mood changes	0	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	203	8773	604961
HP:0001575	HP:0001575	obsolete Mood changes	0	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	1131	9388	188830
HP:0001575	HP:0001575	obsolete Mood changes	0	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	158	12631	603158
HP:0001575	HP:0001575	obsolete Mood changes	0	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	2362	1908	605978
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001575	HP:0001575	obsolete Mood changes	0	TUBB3 CL E G H	10381	300570				ORPHA	0	320	20772	602661

Genes (7) :AIP GNAS PDE11A PRKAR1A TUBB3 USP8 VPS13A

Diseases (6) :219090 219080 610475 610489 300570 200150

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