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:
Localized skin lesion (HP:0011355)

Grandparent Node:
Scarring (HP:0100699)

Parent Node:
Atypical scarring of skin (HP:0000987)

..Starting node
..Keloids (HP:0010562)

Term ID:

10562

Name:

Keloids

Synonym:

Definition:

Comments:

Reference:

HP:0010562

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrophic scars (HP:0001075)

Atrophodermia vermiculata (HP:0100837)

Scarring alopecia of scalp (HP:0004552)

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:0010562	HP:0010562	Keloids	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0010562	HP:0010562	Keloids	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional	3179
HP:0010562	HP:0010562	Keloids	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0010562	HP:0010562	Keloids	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent	263
HP:0010562	HP:0010562	Keloids	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010562	HP:0010562	Keloids	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0010562	HP:0010562	Keloids	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0010562	HP:0010562	Keloids	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010562	HP:0010562	Keloids	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0010562	HP:0010562	Keloids	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0010562	HP:0010562	Keloids	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0010562	HP:0010562	Keloids	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0010562	HP:0010562	Keloids	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11

Genes (8) :APC ATP7A COL7A1 CREBBP EP300 FLNA LEMD3 MAP3K7

Diseases (11) :OMIM:175100 ORPHA:79665 ORPHA:198 ORPHA:79410 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:353284 ORPHA:1826 ORPHA:166119 OMIM:617137

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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