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:
Abnormality of skin morphology (HP:0011121)

Parent Node:
Abnormal epidermal morphology (HP:0011124)

..Starting node
..Acantholysis (HP:0100792)

Term ID:

100792

Name:

Acantholysis

Synonym:

Nikolsky's sign

Definition:

The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.

Comments:

Reference:

HP:0100792

Genes and Diseases:

Child Nodes:

Sister Nodes:

Civatte bodies (HP:0025115)

Epidermal acanthosis (HP:0025092)

Rete ridge flattening (HP:0025117)

Scaling skin (HP:0040189)

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:0100792	HP:0100792	Acantholysis	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0100792	HP:0100792	Acantholysis	0	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus	HP:0040281 - Very frequent	56
HP:0100792	HP:0100792	Acantholysis	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.	16
HP:0100792	HP:0100792	Acantholysis	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0100792	HP:0100792	Acantholysis	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0100792	HP:0100792	Acantholysis	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.	747
HP:0100792	HP:0100792	Acantholysis	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	4
HP:0100792	HP:0100792	Acantholysis	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	8
HP:0100792	HP:0100792	Acantholysis	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0100792	HP:0100792	Acantholysis	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0100792	HP:0100792	Acantholysis	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040281 - Very frequent	67

Genes (8) :ATP2A2 ATP2C1 DSG1 DSP HLA-B IKZF1 JUP KRT2

Diseases (9) :OMIM:124200 ORPHA:2841 OMIM:615508 OMIM:609638 ORPHA:158687 OMIM:607655 ORPHA:36426 OMIM:601214 ORPHA:455

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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