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:
Mental deterioration (HP:0001268)

Parent Node:
Progressive neurologic deterioration (HP:0002344)

..Starting node
..Progressive language deterioration (HP:0007064)

Term ID:

7064

Name:

Progressive language deterioration

Synonym:

Definition:

Progressive loss of previously present language abilities.

Comments:

Reference:

HP:0007064

Genes and Diseases:

Child Nodes:

Sister Nodes:

Progressive psychomotor deterioration (HP:0007272)

Rapid neurologic deterioration (HP:0007307)

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:0007064	HP:0007064	Progressive language deterioration	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0007064	HP:0007064	Progressive language deterioration	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	518
HP:0007064	HP:0007064	Progressive language deterioration	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126

Genes (2) :CNTNAP2 GRN

Diseases (3) :ORPHA:163681 OMIM:610042 OMIM:607485

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