Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Behavioral abnormality (HP:0000708)

Parent Node:
Abnormal social behavior (HP:0012433)

..Starting node
..Shyness (HP:0100962)

Term ID:

100962

Name:

Shyness

Synonym:

Shyness

Definition:

Comments:

Reference:

HP:0100962

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed social development (HP:0012434)

Impaired social interactions (HP:0000735)

Impaired social reciprocity (HP:0012760)

Overfriendliness (HP:0100025)

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:0100962	HP:0100962	Shyness	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	49
HP:0100962	HP:0100962	Shyness	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	48
HP:0100962	HP:0100962	Shyness	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	41
HP:0100962	HP:0100962	Shyness	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	18
HP:0100962	HP:0100962	Shyness	0	C12ORF4 CL E G H	57102	1184	OMIM:618221	Mental retardation, autosomal recessive 66		2
HP:0100962	HP:0100962	Shyness	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent	144
HP:0100962	HP:0100962	Shyness	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional	30
HP:0100962	HP:0100962	Shyness	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0100962	HP:0100962	Shyness	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0100962	HP:0100962	Shyness	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0100962	HP:0100962	Shyness	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60

Genes (11) :AP4B1 AP4E1 AP4M1 AP4S1 C12ORF4 DPYD FMR1 NONO POLA1 RLIM SETD2

Diseases (8) :ORPHA:280763 OMIM:618221 ORPHA:293948 ORPHA:449291 ORPHA:466791 OMIM:301030 OMIM:300978 OMIM:616831

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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