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
..Lamina lucida cleavage (HP:0003341)

Term ID:

3341

Name:

Lamina lucida cleavage

Synonym:

Blistering with junctional split; Junctional split; Subepidermal blistering with cleavage in the lamina lucida

Definition:

The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.

Comments:

Reference:

HP:0003341

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acral blistering (HP:0031045)

Genital blistering (HP:0031464)

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:0003341	HP:0003341	Lamina lucida cleavage	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0003341	HP:0003341	Lamina lucida cleavage	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional	263
HP:0003341	HP:0003341	Lamina lucida cleavage	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0003341	HP:0003341	Lamina lucida cleavage	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0003341	HP:0003341	Lamina lucida cleavage	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0003341	HP:0003341	Lamina lucida cleavage	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0003341	HP:0003341	Lamina lucida cleavage	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040281 - Very frequent	110
HP:0003341	HP:0003341	Lamina lucida cleavage	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040281 - Very frequent	110
HP:0003341	HP:0003341	Lamina lucida cleavage	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0003341	HP:0003341	Lamina lucida cleavage	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040281 - Very frequent	173
HP:0003341	HP:0003341	Lamina lucida cleavage	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent	173
HP:0003341	HP:0003341	Lamina lucida cleavage	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040281 - Very frequent	173
HP:0003341	HP:0003341	Lamina lucida cleavage	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173
HP:0003341	HP:0003341	Lamina lucida cleavage	0	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0003341	HP:0003341	Lamina lucida cleavage	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0003341	HP:0003341	Lamina lucida cleavage	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0003341	HP:0003341	Lamina lucida cleavage	0	LAMC2 CL E G H	3918	6493	OMIM:619785	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A		135
HP:0003341	HP:0003341	Lamina lucida cleavage	0	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0003341	HP:0003341	Lamina lucida cleavage	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0003341	HP:0003341	Lamina lucida cleavage	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0003341	HP:0003341	Lamina lucida cleavage	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759

Genes (10) :COL17A1 COL7A1 ITGA6 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 PLEC

Diseases (14) :OMIM:619787 ORPHA:89843 OMIM:619817 ORPHA:158684 OMIM:619816 OMIM:226730 ORPHA:79399 ORPHA:79397 ORPHA:79400 ORPHA:158681 OMIM:619784 OMIM:226700 OMIM:619785 OMIM:619786

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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