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 blistering of the skin (HP:0008066)

..Starting node
..Acral blistering (HP:0031045)

Term ID:

31045

Name:

Acral blistering

Synonym:

Definition:

Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).

Comments:

Reference:

HP:0031045

Genes and Diseases:

Child Nodes:

Sister Nodes:

Genital blistering (HP:0031464)

Lamina lucida cleavage (HP:0003341)

Oral mucosal blisters (HP:0200097)

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:0031045	HP:0031045	Acral blistering	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0031045	HP:0031045	Acral blistering	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040282 - Frequent	263
HP:0031045	HP:0031045	Acral blistering	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0031045	HP:0031045	Acral blistering	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0031045	HP:0031045	Acral blistering	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0031045	HP:0031045	Acral blistering	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124
HP:0031045	HP:0031045	Acral blistering	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0031045	HP:0031045	Acral blistering	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent	173
HP:0031045	HP:0031045	Acral blistering	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759
HP:0031045	HP:0031045	Acral blistering	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6

Genes (9) :COL17A1 COL7A1 FBXO28 FERMT1 ITGB4 KRT14 KRT5 PLEC SMARCAD1

Diseases (9) :ORPHA:251393 ORPHA:231568 ORPHA:158673 OMIM:619777 OMIM:173650 ORPHA:69087 ORPHA:158681 ORPHA:79401 OMIM:129200

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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