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:
Localized skin lesion (HP:0011355)

Parent Node:
Aplasia/Hypoplasia of the skin (HP:0008065)

..Starting node
..Congenital localized absence of skin (HP:0007383)

Term ID:

7383

Name:

Congenital localized absence of skin

Synonym:

Congenital localised absence of skin; Congenital localised skin absence; Congenital localized skin absence

Definition:

Comments:

Reference:

HP:0007383

Genes and Diseases:

Child Nodes:

........

Congenital absence of skin of limbs (HP:0007506)

Sister Nodes:

Aplasia cutis congenita (HP:0001057)

Asymmetric, linear skin defects (HP:0007398)

Dermal atrophy (HP:0004334)

Focal dermal aplasia/hypoplasia (HP:0007510)

Hypoplastic pilosebaceous units (HP:0007515)

Hypoplastic-absent sebaceous glands (HP:0007411)

Thin skin (HP:0000963)

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:0007383	HP:0007383	Congenital localized absence of skin	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	1
HP:0007383	HP:0007383	Congenital localized absence of skin	0	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails	.	263
HP:0007383	HP:0007383	Congenital localized absence of skin	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	9
HP:0007383	HP:0007383	Congenital localized absence of skin	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	124
HP:0007383	HP:0007383	Congenital localized absence of skin	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0007383	HP:0007383	Congenital localized absence of skin	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0007383	HP:0007383	Congenital localized absence of skin	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0007383	HP:0007383	Congenital localized absence of skin	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	759
HP:0007383	HP:0007383	Congenital localized absence of skin	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent
HP:0007383	HP:0007506	Congenital absence of skin of limbs	1	CL E G H

Genes (9) :BMS1 COL7A1 DLL4 ITGB4 LAMA3 LAMB3 LAMC2 PLEC UBA2

Diseases (3) :ORPHA:1114 OMIM:132000 OMIM:226700

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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