DiseaseID 9545
脑颅皮肤脂肪瘤病
disease
NCI2016_02D:A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.|JABL99:A syndrome of mental deficiency, seizures, and unil
Relationship Network
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Disease: 1Herb: 3Symptom: 10Target: 16Links: 37
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9545
- Core Entity Id
- 66633
- Source Entity Count
- 1
- Preferred Name
- Encephalocraniocutaneous Lipomatosis
- Name Cn
- 脑颅皮肤脂肪瘤病
- Name Pinyin
- Nao Lu Pi Fu Zhi Fang Liu Bing
- Name En
- Encephalocraniocutaneous Lipomatosis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.|JABL99:A syndrome of mental deficiency, seizures, and unilateral cutaneous and ocular lesions with ipsilateral cerebral abnormalities. Fishman syndrome is considered as a possible localized form of the Proteus syndrome. All cases thus far reported have been sporadic.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Encephalocraniocutaneous Lipomatosis
Role
preferred
Name
ECCL
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008971
Omim
613001
Umls
C0406612
Sym Map
SMDE04231
Dis Ge Net
C0406612
Umls Sty
T019
Me Sh Class
C10C11C16C17C18
Etcm Disease
Encephalocraniocutaneous Lipomatosis
Tcmbank Disease
21938
Itcmdb Generated
ITX-DISEASE-4FC2FB3327E9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Encephalocraniocutaneous Lipomatosis Details page
Disease Type
disease
Umls Disease Type
Congenital Abnormality
Basic Information
Disease Name
Encephalocraniocutaneous Lipomatosis
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Definition
NCI2016_02D:A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.|JABL99:A syndrome of mental deficiency, seizures, and unilateral cutaneous and ocular lesions with ipsilateral cerebral abnormalities. Fishman syndrome is considered as a possible localized form of the Proteus syndrome. All cases thus far reported have been sporadic.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue 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; Nervous System Diseases
Umls Semantic Type Name
Congenital Abnormality