DiseaseID 2519
赫曼斯基-普德拉克综合征
disease
NCI2016_02D:A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.|MSH2017_2016_08_12:Syndrome characterized by the triad of oculoc
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Symptom: 12Target: 24Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2519
- Core Entity Id
- 2848
- Source Entity Count
- 1
- Preferred Name
- Hermanski-Pudlak Syndrome
- Name Cn
- 赫曼斯基-普德拉克综合征
- Name Pinyin
- He Man Si Ji - Pu De La Ke Zong He Zheng
- Name En
- Hermanski-Pudlak Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_02D:A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.|MSH2017_2016_08_12:Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hermanski-Pudlak Syndrome
Role
preferred
Name
Hermansky-Pudlak Syndrome 7
Role
preferred
Name
Hermansky-Pudlak Syndrome 8
Role
preferred
Name
Hermansky-Pudlak Syndrome 9
Role
preferred
Name
HPS7
Role
alias
Name
HPS8
Role
alias
Name
HPS9
Role
alias
Name
Hermansky-Pudlak Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS003196HBDIS022772HBDIS029324HBDIS029329
Me Sh
D022861
Omim
614076614077614171
Umls
C0079504C3279756C3280026C3888026
Icd10
E70.331
Sym Map
SMDE00248SMDE03168SMDE03244SMDE09441
Do Class
DOID:630
Dis Ge Net
C0079504C3279756C3280026C3888026
Umls Sty
T047
Me Sh Class
C11C15C16C17C18
Etcm Disease
Hermansky-Pudlak Syndrome 7Hermansky-Pudlak Syndrome 8Hermansky-Pudlak Syndrome 9
Tcmbank Disease
1154728931
Itcmdb Generated
ITX-DISEASE-3BA3142ECA59ITX-DISEASE-3D9A09AD1DD7ITX-DISEASE-FAAF9CBD5AB7
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Hermansky-Pudlak Syndrome 7 Details pageDisease Hermansky-Pudlak Syndrome 8 Details pageDisease Hermansky-Pudlak Syndrome 9 Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hermansky-Pudlak Syndrome 7
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases
Disease Name
Hermansky-Pudlak Syndrome 8
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases
Disease Name
Hermansky-Pudlak Syndrome 9
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Eye diseases;Immune diseases;Neuronal diseases;Skin diseases
Disease Definition
NCI2016_02D:A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.|MSH2017_2016_08_12:Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic 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; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome