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:
Alopecia of scalp (HP:0002293)

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

..Starting node
..Scarring alopecia of scalp (HP:0004552)

Term ID:

4552

Name:

Scarring alopecia of scalp

Synonym:

Cicatricial alopecia; Hair loss on scalp from scarring condition

Definition:

Comments:

Reference:

HP:0004552

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrophic scars (HP:0001075)

Atrophodermia vermiculata (HP:0100837)

Keloids (HP:0010562)

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:0004552	HP:0004552	Scarring alopecia of scalp	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent	11
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	129
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040281 - Very frequent	51
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	124
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional	31
HP:0004552	HP:0004552	Scarring alopecia of scalp	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41

Genes (15) :CLDN1 COL17A1 EBP GATA1 GJB2 GJB6 ITGB4 LAMA3 LAMB3 LAMC2 MBTPS2 PLEC RHOA UROD UROS

Diseases (13) :ORPHA:59303 OMIM:619787 ORPHA:79402 ORPHA:251393 ORPHA:35173 ORPHA:79277 OMIM:602540 ORPHA:477 ORPHA:158684 OMIM:308800 OMIM:226670 OMIM:618727 ORPHA:95159

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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