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
..Alopecia universalis (HP:0002289)

Term ID:

2289

Name:

Alopecia universalis

Synonym:

Alopecia, complete; Universal alopecia

Definition:

Loss of all hair on the entire body.

Comments:

Reference:

HP:0002289

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alopecia of scalp (HP:0002293)

Alopecia totalis (HP:0007418)

obsolete Alopecia areata (HP:0002229)

Patchy alopecia (HP:0002232)

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:0002289	HP:0002289	Alopecia universalis	0	AHSG CL E G H	197	349	OMIM:203650	Alopecia-Mental retardation syndrome 1	.	5
HP:0002289	HP:0002289	Alopecia universalis	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0002289	HP:0002289	Alopecia universalis	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0002289	HP:0002289	Alopecia universalis	0	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent	106
HP:0002289	HP:0002289	Alopecia universalis	0	HR CL E G H	55806	5172	OMIM:203655	Alopecia universalis congenita	.	106
HP:0002289	HP:0002289	Alopecia universalis	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002289	HP:0002289	Alopecia universalis	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002289	HP:0002289	Alopecia universalis	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0002289	HP:0002289	Alopecia universalis	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040282 - Frequent	107
HP:0002289	HP:0002289	Alopecia universalis	0	SNRPE CL E G H	6635	11161	OMIM:615059	Hypotrichosis 11		2
HP:0002289	HP:0002289	Alopecia universalis	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	HP:0040283 - Occasional	151
HP:0002289	HP:0002289	Alopecia universalis	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (11) :AHSG AIRE DSP HR IL2RA LMNA PERP PKP1 SNRPE TRPV3 VDR

Diseases (12) :OMIM:203650 OMIM:240300 OMIM:609638 ORPHA:701 OMIM:203655 OMIM:606367 ORPHA:363618 OMIM:619208 ORPHA:158668 OMIM:615059 OMIM:614594 OMIM:277440

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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