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:
Alopecia (HP:0001596)

Parent Node:
Alopecia totalis (HP:0007418)

..Starting node
..Congenital alopecia totalis (HP:0005597)

Term ID:

5597

Name:

Congenital alopecia totalis

Synonym:

Definition:

Loss of all scalp hair with congenital onset.

Comments:

Reference:

HP:0005597

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005597	HP:0005597	Congenital alopecia totalis	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0005597	HP:0005597	Congenital alopecia totalis	0	FOXN1 CL E G H	8456	12765	ORPHA:169095	Severe combined immunodeficiency due to FOXN1 deficiency	HP:0040281 - Very frequent	54
HP:0005597	HP:0005597	Congenital alopecia totalis	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222

Genes (3) :DSP FOXN1 JUP

Diseases (2) :ORPHA:158687 ORPHA:169095

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.