DiseaseID 26089

2型少毛症

Hypotrichosis 2

SNOMEDCT_US_2016_09_01:Hypotrichosis simplex of the scalp (HSS) has manifestation of diffuse progressive hair loss that is confined to the scalp. Prevalence is unknown but HSS has been described in multiple members (male

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Disease: 1Formula: 4Herb: 1Target: 16Links: 29
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Record Fields

Scalar fields from the final disease record.

Disease Id
26089
Core Entity Id
118657
Source Entity Count
1
Preferred Name
Hypotrichosis 2
Name Cn
2型少毛症
Name Pinyin
2 Xing Shao Mao Zheng
Name En
Hypotrichosis 2
Name Latin
Bilingual Status
complete
Disease Type
Umls Disease Type
Disgenet Type
Mesh Class
Do Class
Hpo Class
Mesh Class Name
Hpo Class Name
Do Class Name
Disease Definition
SNOMEDCT_US_2016_09_01:Hypotrichosis simplex of the scalp (HSS) has manifestation of diffuse progressive hair loss that is confined to the scalp. Prevalence is unknown but HSS has been described in multiple members (males and females) of several large families. Progressive hair loss generally begins during the first decade of life and most patients are completely bald by the third decade of life. Body, axillary and facial hair, as well as the eyebrows and eyelashes are unaffected. There are no anomalies of the skin, nails and teeth. The causative gene CDSN (encoding the keratinocyte adhesion molecule, corneodesmosin) has been mapped to chromosome 6p21.3. Transmitted in an autosomal dominant manner.
Version
v1
Suppressed
No

Names

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

Name
Hypotrichosis 2
Role
preferred

Cross References

Trusted external identifiers retained for this final record.

Umls
C1840299
Sym Map
SMDE01898
Etcm Disease
Hypotrichosis 2
Itcmdb Generated
ITX-DISEASE-C17D77FD1499

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Page Title
Disease Hypotrichosis 2 Details page
Basic Information
Disease Name
Hypotrichosis 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Oral diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Hypotrichosis simplex of the scalp (HSS) has manifestation of diffuse progressive hair loss that is confined to the scalp. Prevalence is unknown but HSS has been described in multiple members (males and females) of several large families. Progressive hair loss generally begins during the first decade of life and most patients are completely bald by the third decade of life. Body, axillary and facial hair, as well as the eyebrows and eyelashes are unaffected. There are no anomalies of the skin, nails and teeth. The causative gene CDSN (encoding the keratinocyte adhesion molecule, corneodesmosin) has been mapped to chromosome 6p21.3. Transmitted in an autosomal dominant manner.