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:
Delayed speech and language development (HP:0000750)

Parent Node:
Receptive language delay (HP:0010863)

..Starting node
..Severe receptive language delay (HP:0011352)

Term ID:

11352

Name:

Severe receptive language delay

Synonym:

Definition:

A severe delay in the acquisition of the ability to understand the speech of others.

Comments:

Reference:

HP:0011352

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild receptive language delay (HP:0011350)

Moderate receptive language delay (HP:0011351)

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:0011352	HP:0011352	Severe receptive language delay	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0011352	HP:0011352	Severe receptive language delay	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent	19

Genes (2) :GNB1 SPATA5

Diseases (2) :OMIM:616973 ORPHA:457351

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