DiseaseID 4333
沙姆伯格病
disease
Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL)
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 12Symptom: 12Target: 22Links: 48
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4333
- Core Entity Id
- 60665
- Source Entity Count
- 1
- Preferred Name
- Schamberg Disease
- Name Cn
- 沙姆伯格病
- Name Pinyin
- Sha Mu Bo Ge Bing
- Name En
- Schamberg Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entity
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entity
- Disease Definition
- Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL)
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Schamberg Disease
Role
preferred
Name
Incontinentia Pigmenti Achromians
Role
preferred
Name
Pigmentation Disorders
Role
preferred
Name
Bloch Sulzberger Syndrome
Role
preferred
Name
INCONTINENTIA PIGMENTI, ATYPICAL
Role
preferred
Name
Incontinentia Pigmenti
Role
preferred
Name
Bloch-Sulzberger Syndrome
Role
alias
Name
Disorder of Pigmentation, Unspecified
Role
alias
Name
Hypomelanosis of Ito
Role
alias
Name
Syndrome, Bloch-Sulzberger
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001532HBDIS001579HBDIS002680HBDIS010141HBDIS025821
Me Sh
D007184D010859
Omim
300337308300
Umls
C0021171C0022283C0549567C2930820
Icd10
L81.9Q82.3
Sym Map
SMDE02461SMDE06495SMDE09818SMDE12165
Do Class
DOID:7
Dis Ge Net
C0021171C0022283C0036305C0549567C4225596
Orphanet
464
Umls Sty
T019T047
Me Sh Class
C16C17C23
Etcm Disease
Incontinentia Pigmenti
Tcmbank Disease
1425720727258032829931274
Itcmdb Generated
ITX-DISEASE-D81AACBC2F0C
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Incontinentia Pigmenti Details page
Do Class Name
disease of anatomical entity
Disease Type
diseasegroupphenotype
Do Disease Class
disease of anatomical entity
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Incontinentia Pigmenti
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases;Oral diseases;Skin diseases
Disease Definition
Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) MSH2017_2016_08_12:Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.|CSP2006:disorders of pigmentation of the skin and other organs, including discoloration, hyperpigmentation and hypopigmentation.NCI2016_02D:A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous.|JABL99:A neurocutaneous syndrome characterized by a bizarre, more or less symmetrical leukoderma with depigmented streaks, patches, and whorls, sometimes associated with hyperkeratosis follicularis. Associated disorders include seizures, psychomotor retardation, macrocephaly, and ophthalmological and other abnormalities.NCI2016_02D:A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation.|MSH2017_2016_08_12:A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.|JABL99:A skin pigmentation disorder with malformations of the eyes, teeth, bones, nails, heart, central nervous system, and hair. Mental deficiency is usually associated. The syndrome is divided into two forms: Incontinentia pigmenti type I and type II which lethal in males.
Me Sh Disease Class
Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasegroupphenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome