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:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Cognitive impairment (HP:0100543)

..Starting node
..Bradyphrenia (HP:0031843)

Term ID:

31843

Name:

Bradyphrenia

Synonym:

Mental slowness; Slowed thinking; Slowed thoughts; Slowness of thought

Definition:

Abnormal slowness of thought processes.

Comments:

Reference:

HP:0031843

Genes and Diseases:

Child Nodes:

Sister Nodes:

Memory impairment (HP:0002354)

Mental deterioration (HP:0001268)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031843	HP:0031843	Bradyphrenia	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0031843	HP:0031843	Bradyphrenia	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0031843	HP:0031843	Bradyphrenia	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0031843	HP:0031843	Bradyphrenia	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0031843	HP:0031843	Bradyphrenia	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0031843	HP:0031843	Bradyphrenia	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (6) :CLTC DMPK HTT NOTCH3 SLC2A3 VPS13A

Diseases (5) :OMIM:617854 ORPHA:589821 ORPHA:399 ORPHA:136 ORPHA:2388

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