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
..Receptive language delay (HP:0010863)

Term ID:

10863

Name:

Receptive language delay

Synonym:

Definition:

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

Comments:

Reference:

HP:0010863

Genes and Diseases:

Child Nodes:

........

Mild receptive language delay (HP:0011350)

........

Moderate receptive language delay (HP:0011351)

........

Severe receptive language delay (HP:0011352)

Sister Nodes:

Absent speech (HP:0001344)

Expressive language delay (HP:0002474)

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:0010863	HP:0010863	Receptive language delay	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0010863	HP:0010863	Receptive language delay	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0010863	HP:0010863	Receptive language delay	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0010863	HP:0010863	Receptive language delay	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0010863	HP:0010863	Receptive language delay	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0010863	HP:0010863	Receptive language delay	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040282 - Frequent	143
HP:0010863	HP:0010863	Receptive language delay	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010863	HP:0010863	Receptive language delay	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent	12
HP:0010863	HP:0010863	Receptive language delay	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0010863	HP:0010863	Receptive language delay	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0010863	HP:0010863	Receptive language delay	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome
HP:0010863	HP:0010863	Receptive language delay	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0010863	HP:0010863	Receptive 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:0010863	HP:0010863	Receptive language delay	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0010863	HP:0011350	Mild receptive language delay	1	CL E G H
HP:0010863	HP:0011351	Moderate receptive language delay	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0010863	HP:0011352	Severe receptive language delay	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010863	HP:0011351	Moderate receptive language delay	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0010863	HP:0011351	Moderate receptive language delay	1	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0010863	HP:0011351	Moderate receptive language delay	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0010863	HP:0011352	Severe receptive 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

Genes (13) :AGO2 ALMS1 CNTNAP2 EHMT1 FLCN FOXP2 GNB1 GRHL3 KMT2C PAK1 SH2B1 SPATA5 UBB

Diseases (12) :OMIM:619149 ORPHA:64 ORPHA:163681 ORPHA:261652 OMIM:610883 ORPHA:209908 OMIM:616973 ORPHA:99772 OMIM:618158 ORPHA:261222 ORPHA:261197 ORPHA:457351

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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