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:
Hypopigmentation of the skin (HP:0001010)

Grandparent Node:
Localized skin lesion (HP:0011355)

Parent Node:
Hypopigmented skin patches (HP:0001053)

..Starting node
..Spotty hypopigmentation (HP:0005590)

Term ID:

5590

Name:

Spotty hypopigmentation

Synonym:

Patchy depigmentation; Patchy hypopigmentation; Spotty decreased pigmentation

Definition:

Comments:

Reference:

HP:0005590

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypopigmented skin patches on arms (HP:0007526)

Macular hypopigmented whorls, streaks, and patches (HP:0005593)

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:0005590	HP:0005590	Spotty hypopigmentation	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent	20
HP:0005590	HP:0005590	Spotty hypopigmentation	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0005590	HP:0005590	Spotty hypopigmentation	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0005590	HP:0005590	Spotty hypopigmentation	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.	4
HP:0005590	HP:0005590	Spotty hypopigmentation	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0005590	HP:0005590	Spotty hypopigmentation	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.	136
HP:0005590	HP:0005590	Spotty hypopigmentation	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040282 - Frequent	110
HP:0005590	HP:0005590	Spotty hypopigmentation	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	110
HP:0005590	HP:0005590	Spotty hypopigmentation	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040282 - Frequent	173
HP:0005590	HP:0005590	Spotty hypopigmentation	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	173
HP:0005590	HP:0005590	Spotty hypopigmentation	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7

Genes (9) :ABCB6 ABCC9 BLM CRIPT EBP FERMT1 KRT14 KRT5 UBE2A

Diseases (9) :ORPHA:241 OMIM:619719 OMIM:210900 OMIM:615789 ORPHA:401973 OMIM:173650 ORPHA:79399 ORPHA:79397 OMIM:300860

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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