DiseaseID 5465
眼白化病
disease
MSH2017_2016_08_12:Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular
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Disease: 1Symptom: 1Target: 12Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5465
- Core Entity Id
- 61968
- Source Entity Count
- 1
- Preferred Name
- Albinism, Ocular
- Name Cn
- 眼白化病
- Name Pinyin
- Yan Bai Hua Bing
- Name En
- Albinism, Ocular
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Eye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the eye
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
- Hpo Class Name
- Abnormality of the eye
- Do Class Name
- disease of anatomical entity
- Disease Definition
- MSH2017_2016_08_12:Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.|HPO2016_07_04:An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. [HPO:probinson]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Albinism, Ocular
Role
preferred
Name
Ocular Albinism, Type I
Role
preferred
Name
Absent Pigmentation In The Eye
Role
alias
Name
Albinism, Ocular, Type I
Role
alias
Name
Ocular Albinism
Role
alias
Name
Ocular Albinism Type 1
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001107
Herb
HBDIS003170HBDIS008046
Me Sh
D016117
Omim
300500
Umls
C0078917
Icd10
E70.31E70.319
Sym Map
SMDE05668
Do Class
DOID:7
Dis Ge Net
C0078917C0342684
Umls Sty
T019T047
Hpo Class
HP:0000478
Me Sh Class
C11C16C17C18
Tcmbank Disease
1551726575
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the eye
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the eye
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
MSH2017_2016_08_12:Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.|HPO2016_07_04:An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. [HPO:probinson]
Me Sh Disease Class
Eye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome