DiseaseID 7310

先天性脱发

disease

Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

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Disease: 1Symptom: 1Target: 9Links: 10
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Record Fields

Scalar fields from the final disease record.

Disease Id
7310
Core Entity Id
64086
Source Entity Count
1
Preferred Name
Alopecia Congenita
Name Cn
先天性脱发
Name Pinyin
Xian Tian Xing Tuo Fa
Name En
Alopecia Congenita
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Congenital Abnormality
Disgenet Type
disease
Mesh Class
Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Do Class
disease of anatomical entity; genetic disease
Hpo Class
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases
Hpo Class Name
Do Class Name
genetic disease; disease of anatomical entity
Disease Definition
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
Version
v1
Suppressed
No

Names

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

Name
Alopecia Congenita
Role
preferred
Name
Hypotrichosis With Juvenile Macular Degeneration
Role
preferred
Name
Marie Unna Hereditary Hypotrichosis
Role
preferred
Name
Marie Unna Hereditary Hypotrichosis 1
Role
preferred
Name
Alopecia, Congenital
Role
alias
Name
Congenital Alopecia
Role
alias
Name
Hypotrichosis 4
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS005915HBDIS019892
Omim
300042
Umls
C1832162C2931059
Icd10
Q84.0
Sym Map
SMDE02322SMDE03754
Do Class
DOID:630DOID:7
Dis Ge Net
C0265992C2750815
Orphanet
1573444
Umls Sty
T019T047
Me Sh Class
C16C17C23
Tcmbank Disease
2123830570

Attributes

Merged source attributes and domain-specific metadata.

Version
v1v1,v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hai
Me Sh Disease Class
Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesSkin and Connective Tissue Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome