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:
Abnormal hair quantity (HP:0011362)

Parent Node:
Alopecia (HP:0001596)

..Starting node
..Alopecia totalis (HP:0007418)

Term ID:

7418

Name:

Alopecia totalis

Synonym:

Total alopecia

Definition:

Loss of all scalp hair.

Comments:

Reference:

HP:0007418

Genes and Diseases:

Child Nodes:

........

Congenital alopecia totalis (HP:0005597)

Sister Nodes:

Alopecia of scalp (HP:0002293)

Alopecia universalis (HP:0002289)

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:0007418	HP:0007418	Alopecia totalis	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0007418	HP:0007418	Alopecia totalis	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0007418	HP:0007418	Alopecia totalis	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0007418	HP:0007418	Alopecia totalis	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0007418	HP:0007418	Alopecia totalis	0	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency		54
HP:0007418	HP:0007418	Alopecia totalis	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0007418	HP:0007418	Alopecia totalis	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0007418	HP:0007418	Alopecia totalis	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0007418	HP:0007418	Alopecia totalis	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0007418	HP:0007418	Alopecia totalis	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional	11
HP:0007418	HP:0007418	Alopecia totalis	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0007418	HP:0007418	Alopecia totalis	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0007418	HP:0007418	Alopecia totalis	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent	69
HP:0007418	HP:0007418	Alopecia totalis	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0007418	HP:0007418	Alopecia totalis	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0007418	HP:0007418	Alopecia totalis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0007418	HP:0005597	Congenital alopecia totalis	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0007418	HP:0005597	Congenital alopecia totalis	1	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent	54
HP:0007418	HP:0005597	Congenital alopecia totalis	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222

Genes (13) :ALX4 ANAPC1 DSP FOXN1 GJB6 JUP LMNA MBTPS2 NFKB2 RECQL4 RIPK4 UQCRFS1 ZMPSTE24

Diseases (14) :OMIM:613451 ORPHA:221008 OMIM:609638 ORPHA:158687 ORPHA:169095 OMIM:129500 ORPHA:740 OMIM:300918 ORPHA:293978 OMIM:615577 ORPHA:221016 ORPHA:1234 OMIM:263650 OMIM:618775

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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