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:
Neurodevelopmental delay (HP:0012758)

Parent Node:
Delayed speech and language development (HP:0000750)

..Starting node
..Expressive language delay (HP:0002474)

Term ID:

2474

Name:

Expressive language delay

Synonym:

Communication delay; Deficit in expressive language

Definition:

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

Comments:

Reference:

HP:0002474

Genes and Diseases:

Child Nodes:

........

Severe expressive language delay (HP:0006863)

........

Moderate expressive language delay (HP:0011345)

........

Mild expressive language delay (HP:0011346)

Sister Nodes:

Absent speech (HP:0001344)

Receptive language delay (HP:0010863)

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:0002474	HP:0002474	Expressive language delay	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent	36
HP:0002474	HP:0002474	Expressive language delay	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002474	HP:0002474	Expressive language delay	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002474	HP:0002474	Expressive language delay	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	200
HP:0002474	HP:0002474	Expressive language delay	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	22
HP:0002474	HP:0002474	Expressive language delay	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	3
HP:0002474	HP:0002474	Expressive language delay	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0002474	HP:0002474	Expressive language delay	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0002474	HP:0002474	Expressive language delay	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	17
HP:0002474	HP:0002474	Expressive language delay	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0002474	HP:0002474	Expressive language delay	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	48
HP:0002474	HP:0002474	Expressive language delay	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040281 - Very frequent	184
HP:0002474	HP:0002474	Expressive language delay	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent	143
HP:0002474	HP:0002474	Expressive language delay	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	2
HP:0002474	HP:0002474	Expressive language delay	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	173
HP:0002474	HP:0002474	Expressive language delay	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0002474	HP:0002474	Expressive language delay	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0002474	HP:0002474	Expressive language delay	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0002474	HP:0002474	Expressive language delay	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040281 - Very frequent	240
HP:0002474	HP:0002474	Expressive language delay	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0002474	HP:0002474	Expressive language delay	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0002474	HP:0002474	Expressive language delay	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0002474	HP:0002474	Expressive language delay	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0002474	HP:0002474	Expressive language delay	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	45
HP:0002474	HP:0002474	Expressive language delay	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002474	HP:0002474	Expressive language delay	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0002474	HP:0002474	Expressive language delay	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	665
HP:0002474	HP:0002474	Expressive language delay	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0002474	HP:0002474	Expressive language delay	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent	150
HP:0002474	HP:0002474	Expressive language delay	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0002474	HP:0002474	Expressive language delay	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0002474	HP:0002474	Expressive language delay	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0002474	HP:0002474	Expressive language delay	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0002474	HP:0002474	Expressive language delay	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0002474	HP:0002474	Expressive language delay	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002474	HP:0002474	Expressive language delay	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	67
HP:0002474	HP:0002474	Expressive language delay	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002474	HP:0002474	Expressive language delay	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0002474	HP:0002474	Expressive language delay	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome		19
HP:0002474	HP:0002474	Expressive language delay	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0002474	HP:0002474	Expressive language delay	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	99
HP:0002474	HP:0002474	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		21
HP:0002474	HP:0002474	Expressive language delay	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	1
HP:0002474	HP:0002474	Expressive language delay	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0002474	HP:0002474	Expressive language delay	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0002474	HP:0002474	Expressive language delay	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0002474	HP:0002474	Expressive language delay	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002474	HP:0002474	Expressive language delay	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040281 - Very frequent	362
HP:0002474	HP:0002474	Expressive language delay	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040281 - Very frequent	362
HP:0002474	HP:0002474	Expressive language delay	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	34
HP:0002474	HP:0011346	Mild expressive language delay	1	CL E G H
HP:0002474	HP:0011345	Moderate expressive language delay	1	CL E G H
HP:0002474	HP:0006863	Severe expressive language delay	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002474	HP:0006863	Severe expressive language delay	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0002474	HP:0006863	Severe expressive language delay	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0002474	HP:0006863	Severe expressive language delay	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0002474	HP:0006863	Severe expressive language delay	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0002474	HP:0006863	Severe expressive language delay	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0002474	HP:0006863	Severe expressive language delay	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0002474	HP:0006863	Severe expressive language delay	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent	35
HP:0002474	HP:0006863	Severe expressive language delay	1	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:0002474	HP:0006863	Severe expressive language delay	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0002474	HP:0006863	Severe expressive language delay	1	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:0002474	HP:0006863	Severe expressive language delay	1	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 (48) :AHDC1 ARID1B ASXL1 CDON DISP1 DLL1 DPYD EHMT1 FGF8 FLCN FOXH1 FOXP1 FOXP2 GAS1 GLI2 GNB1 GNE GNPTAB GRIA3 HERC1 KMT2C MED23 NODAL NSD1 POGZ PTCH1 PUF60 RAI1 RSPRY1 SDHA SDHAF1 SDHB SDHD SH2B1 SHH SHMT2 SIX3 SPATA5 SRCAP STIL TAF1 TDGF1 TGIF1 TUBB3 WARS2 YARS1 ZEB2 ZIC2

Diseases (32) :ORPHA:412069 OMIM:135900 ORPHA:97297 ORPHA:280195 ORPHA:1675 ORPHA:261652 OMIM:610883 ORPHA:391372 ORPHA:209908 ORPHA:488613 OMIM:616973 ORPHA:3166 ORPHA:576 ORPHA:364028 ORPHA:457359 OMIM:614249 OMIM:117550 ORPHA:468678 ORPHA:508488 ORPHA:1713 ORPHA:457395 ORPHA:3208 ORPHA:261197 OMIM:619121 ORPHA:457351 OMIM:136140 ORPHA:480907 ORPHA:300570 OMIM:619738 OMIM:619418 ORPHA:261552 ORPHA:261537

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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