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:
Abnormal hair quantity (HP:0011362)

Parent Node:
Alopecia (HP:0001596)

..Starting node
..Patchy alopecia (HP:0002232)

Term ID:

2232

Name:

Patchy alopecia

Synonym:

Alopecia areata; Patchy baldness

Definition:

Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.

Comments:

Reference:

HP:0002232

Genes and Diseases:

Child Nodes:

........

Atrophic, patchy alopecia (HP:0004529)

Sister Nodes:

Alopecia of scalp (HP:0002293)

Alopecia totalis (HP:0007418)

Alopecia universalis (HP:0002289)

obsolete Alopecia areata (HP:0002229)

Progressive alopecia (HP:0002287)

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:0002232	HP:0002232	Patchy alopecia	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0002232	HP:0002232	Patchy alopecia	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:0002232	HP:0002232	Patchy alopecia	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	63
HP:0002232	HP:0002232	Patchy alopecia	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0002232	HP:0002232	Patchy alopecia	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0002232	HP:0002232	Patchy alopecia	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease	.	14
HP:0002232	HP:0002232	Patchy alopecia	0	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent	106
HP:0002232	HP:0002232	Patchy alopecia	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0002232	HP:0002232	Patchy alopecia	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0002232	HP:0002232	Patchy alopecia	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002232	HP:0002232	Patchy alopecia	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:0002232	HP:0002232	Patchy alopecia	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0002232	HP:0002232	Patchy alopecia	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040281 - Very frequent	81
HP:0002232	HP:0002232	Patchy alopecia	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	3
HP:0002232	HP:0002232	Patchy alopecia	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	65
HP:0002232	HP:0002232	Patchy alopecia	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	10
HP:0002232	HP:0002232	Patchy alopecia	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0002232	HP:0002232	Patchy alopecia	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0002232	HP:0002232	Patchy alopecia	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0002232	HP:0002232	Patchy alopecia	0	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040283 - Occasional	3
HP:0002232	HP:0002232	Patchy alopecia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0002232	HP:0002232	Patchy alopecia	0	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040283 - Occasional	1
HP:0002232	HP:0002232	Patchy alopecia	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0002232	HP:0002232	Patchy alopecia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0002232	HP:0004529	Atrophic, patchy alopecia	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0002232	HP:0004529	Atrophic, patchy alopecia	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0002232	HP:0004529	Atrophic, patchy alopecia	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124

Genes (22) :BLM COL17A1 DSG4 EBP ECM1 HR HRAS IKBKG IL2RA ITGB4 KDM5C KRT81 KRT83 KRT86 LAMB3 LMNA NECTIN4 PADI3 PORCN TGM3 TP63 ZMPSTE24

Diseases (18) :ORPHA:125 ORPHA:251393 ORPHA:573 OMIM:302960 ORPHA:35173 OMIM:247100 ORPHA:701 ORPHA:2874 OMIM:308300 OMIM:606367 OMIM:300534 ORPHA:85279 OMIM:226650 ORPHA:740 OMIM:613573 ORPHA:1410 OMIM:305600 OMIM:106260

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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