DiseaseID 5475

Hallopeau-Siemens病

disease

Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet.

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Disease: 1Herb: 12Symptom: 12Target: 22Links: 48

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Record Fields

Scalar fields from the final disease record.

Disease Id: 5475
Core Entity Id: 61981
Source Entity Count: 1
Preferred Name: Hallopeau-Siemens Disease
Name Cn: Hallopeau-Siemens病
Name Pinyin: Hallopeau-siemens Bing
Name En: Hallopeau-Siemens Disease
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Congenital Abnormality
Disgenet Type: disease
Mesh Class: Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Do Class: disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Class
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Hpo Class Name
Do Class Name: disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Definition: Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet.
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Hallopeau-Siemens Disease

Role

preferred

Name

Acral Dystrophic Epidermolysis Bullosa

Role

preferred

Name

Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Role

preferred

Name

Dystrophic Epidermolysis Bullosa, Nails Only

Role

preferred

Name

Epidermolysis Bullosa Dystrophica

Role

preferred

Name

Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive

Role

preferred

Name

Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Role

preferred

Name

Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant

Role

preferred

Name

Recessive Dystrophic Epidermolysis Bullosa Inversa

Role

preferred

Name

Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Role

preferred

Name

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Role

preferred

Name

Transient Bullous Dermolysis Of The Newborn

Role

preferred

Name

Cockayne-Touraine Disease

Role

preferred

Name

Dominant Dystrophic Epidermolysis Bullosa, Albopapular Type (Disorder)

Role

preferred

Name

Dystrophic Epidermolysis Bullosa Pruriginosa

Role

preferred

Name

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT

Role

preferred

Name

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE

Role

preferred

Name

Epidermolysis Bullosa Dystrophica, Pretibial

Role

preferred

Name

Generalized Dominant Dystrophic Epidermolysis Bullosa

Role

preferred

Name

Albopapuloid Dominant Dystrophic Epidermolysis Bullosa

Role

alias

Name

Autosomal Dominant Dystrophic Epidermolysis Bullosa

Role

alias

Name

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Role

alias

Name

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Mitis

Role

alias

Name

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Generalized Other

Role

alias

Name

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Role

alias

Name

Centripetal Dystrophic Epidermolysis Bullosa

Role

alias

Name

Centripetal Recessive Dystrophic Epidermolysis Bullosa

Role

alias

Name

DEB, Acral

Role

alias

Name

DEB, Bullous Dermolysis Of The Newborn

Role

alias

Name

DEB-BDN

Role

alias

Name

DEB-ac

Role

alias

Name

DEB-na

Role

alias

Name

DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE

Role

alias

Name

DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL

Role

alias

Name

Dystrophic Epidermolysis Bullosa Inversa

Role

alias

Name

EBR1

Role

alias

Name

EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE

Role

alias

Name

EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE

Role

alias

Name

EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM

Role

alias

Name

Epidermolysis Bullosa Dystrophica, Autosomal Dominant

Role

alias

Name

Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type

Role

alias

Name

Epidermolysis Bullosa Dystrophica, Pasini Type

Role

alias

Name

Generalized Mitis RDEB

Role

alias

Name

Inverse RDEB

Role

alias

Name

Inverse Recessive Dystrophic Epidermolysis Bullosa

Role

alias

Name

Nails-only DEB

Role

alias

Name

RDE

Role

alias

Name

RDEB

Role

alias

Name

RDEB Generalisata Gravis

Role

alias

Name

RDEB, Centripetalis

Role

alias

Name

RDEB, Hallopeau-Siemens T

Role

alias

Name

RDEB-Ce

Role

alias

Name

RDEB-I

Role

alias

Name

RDEB-O

Role

alias

Name

RDEB-generalized Other

Role

alias

Name

Recessive Dystrophic Epidermolysis Bullosa

Role

alias

Name

TBDN

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Herb

HBDIS003179HBDIS003186HBDIS003193HBDIS009442HBDIS016813HBDIS016898HBDIS019274HBDIS019275HBDIS019411HBDIS026758HBDIS026777HBDIS026798

Me Sh

D016108

Omim

131705131750226600

Umls

C0079294C0079474C0432321C0432322C1275114C1851573C2673611C2673612

Icd10

Q81.2

Sym Map

SMDE00035SMDE01175SMDE01291SMDE01656SMDE02798SMDE03484SMDE04530SMDE04538SMDE04563SMDE04793SMDE04906SMDE08364SMDE08365SMDE08366SMDE09200

Do Class

DOID:630DOID:7

Dis Ge Net

C0079136C0079294C0079474C0432322C1851573C1853063C2673611C2673612C2675780C4510043C4511056C4518087

Orphanet

15867315867623156879408794097941079411898418984289843

Umls Sty

T019T033T047

Me Sh Class

C16C17

Etcm Disease

Acral Dystrophic Epidermolysis BullosaCentripetalis Recessive Dystrophic Epidermolysis BullosaEpidermolysis Bullosa DystrophicaEpidermolysis Bullosa Dystrophica, Autosomal RecessiveEpidermolysis Bullosa Dystrophica, Pretibial

Tcmbank Disease

1165816253183762095321923225602378624167480951055989062

Itcmdb Generated

ITX-DISEASE-10EF49A1F01FITX-DISEASE-124419E9A438ITX-DISEASE-36683B6D6F4AITX-DISEASE-46F004077F41ITX-DISEASE-6541725CD1BEITX-DISEASE-6A3A35C22AA1ITX-DISEASE-8D9B4A13C9D5ITX-DISEASE-98A7D2A420DAITX-DISEASE-BA2B31655277ITX-DISEASE-DA983E9C762AITX-DISEASE-EAA3D09163E5ITX-DISEASE-EE45D048734EITX-DISEASE-F147707873C7

Attributes

Merged source attributes and domain-specific metadata.

Version

v1v1,v2v2

Suppress

Page Title

Disease Acral Dystrophic Epidermolysis Bullosa Details pageDisease Centripetalis Recessive Dystrophic Epidermolysis Bullosa Details pageDisease Epidermolysis Bullosa Dystrophica Details pageDisease Epidermolysis Bullosa Dystrophica, Autosomal Recessive Details pageDisease Epidermolysis Bullosa Dystrophica, Pretibial Details page

Do Class Name

disease of anatomical entitygenetic disease; disease of anatomical entity

Disease Type

diseasephenotype

Do Disease Class

disease of anatomical entitydisease of anatomical entity; genetic disease

Umls Disease Type

Congenital AbnormalityDisease or SyndromeFinding

Basic Information

Disease Name

Acral Dystrophic Epidermolysis Bullosa

Global Category

Rare diseases

Anatomical Category

Skin diseases

Disease Name

Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Global Category

Fetal diseases;Rare diseases

Anatomical Category

Skin diseases

Disease Name

Epidermolysis Bullosa Dystrophica

Global Category

Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Skin diseases

Disease Name

Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Global Category

Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Eye diseases;Skin diseases

Disease Name

Epidermolysis Bullosa Dystrophica, Pretibial

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Skin diseases

Disease Definition

Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet.Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acralDystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, iDystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nailsGeneralized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, charHPO2016_07_04:A type of blistering that affects the skin of the tibial region. [HPO:probinson, pmid:15265795]NCI2016_02D:A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.|MSH2017_2016_08_12:Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosRecessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confinedSevere generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-SiemenTransient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within th

Me Sh Disease Class

Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Dis Ge Net Disease Type

diseasephenotype

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases

Umls Semantic Type Name

Congenital AbnormalityDisease or SyndromeFinding