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:
Expressive language delay (HP:0002474)

..Starting node
..Severe expressive language delay (HP:0006863)

Term ID:

6863

Name:

Severe expressive language delay

Synonym:

Definition:

A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.

Comments:

Reference:

HP:0006863

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild expressive language delay (HP:0011346)

Moderate expressive language delay (HP:0011345)

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:0006863	HP:0006863	Severe expressive language delay	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0006863	HP:0006863	Severe expressive language delay	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0006863	HP:0006863	Severe expressive language delay	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0006863	HP:0006863	Severe expressive language delay	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0006863	HP:0006863	Severe expressive language delay	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0006863	HP:0006863	Severe expressive language delay	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0006863	HP:0006863	Severe expressive language delay	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0006863	HP:0006863	Severe expressive language delay	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent	35
HP:0006863	HP:0006863	Severe expressive language delay	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0006863	HP:0006863	Severe expressive language delay	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0006863	HP:0006863	Severe expressive 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
HP:0006863	HP:0006863	Severe expressive language delay	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040281 - Very frequent	21

Genes (12) :ARID1B ASXL1 DPYD EHMT1 GRIA3 HERC1 KMT2C POGZ RSPRY1 SH2B1 SPATA5 TAF1

Diseases (11) :OMIM:135900 ORPHA:97297 ORPHA:1675 ORPHA:261652 ORPHA:364028 ORPHA:457359 ORPHA:468678 ORPHA:457395 ORPHA:261197 ORPHA:457351 ORPHA:480907

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

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