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:
Constitutional symptom (HP:0025142)

Parent Node:
Fatigue (HP:0012378)

..Starting node
..Chronic fatigue (HP:0012432)

Term ID:

12432

Name:

Chronic fatigue

Synonym:

Chronic extreme exhaustion; Chronic fatigue

Definition:

Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.

Comments:

Reference:

HP:0012432

Genes and Diseases:

Child Nodes:

Sister Nodes:

Episodic fatigue (HP:0012431)

Postexertional malaise (HP:0030973)

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:0012432	HP:0012432	Chronic fatigue	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	1	13955	1100	113705
HP:0012432	HP:0012432	Chronic fatigue	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	1	17543	1101	600185
HP:0012432	HP:0012432	Chronic fatigue	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	1	1305	1787	600160
HP:0012432	HP:0012432	Chronic fatigue	0	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	1	480	6407	190070
HP:0012432	HP:0012432	Chronic fatigue	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	1	5225	26144	610355
HP:0012432	HP:0012432	Chronic fatigue	0	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	1	1741	17068	608092
HP:0012432	HP:0012432	Chronic fatigue	0	SMAD3 CL E G H	4088	284984				ORPHA	1	925	6769	603109
HP:0012432	HP:0012432	Chronic fatigue	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	1	1898	6770	600993
HP:0012432	HP:0012432	Chronic fatigue	0	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0012432	HP:0012432	Chronic fatigue	0	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	1	2977	11998	191170
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012432	HP:0012432	Chronic fatigue	0	SMAD3 CL E G H	4088	613795	Loeys-Dietz syndrome 3	613795	C3151087	OMIM	0	925	6769	603109

Genes (10) :BRCA1 BRCA2 CDKN2A KRAS PALB2 PALLD SMAD3 SMAD4 TK2 TP53

Diseases (4) :1333 284984 613795 254875

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