DiseaseID 2958
里德尔综合征
disease
Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
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Disease: 1Symptom: 5Target: 12Links: 17
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2958
- Core Entity Id
- 3347
- Source Entity Count
- 1
- Preferred Name
- Riddle Syndrome
- Name Cn
- 里德尔综合征
- Name Pinyin
- Li De Er Zong He Zheng
- Name En
- Riddle 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; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Immune System DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Immune System Diseases; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
- Do Class
- disease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Mental Disorders
- Hpo Class Name
- Do Class Name
- genetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Riddle Syndrome
Role
preferred
Name
Alymphoid Cystic Thymic Dysgenesis
Role
preferred
Name
Poikiloderma With Neutropenia
Role
preferred
Name
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Role
preferred
Name
Immunodeficiency Associated With Other Specified Major Defects
Role
preferred
Name
Primary Immunodeficiency Syndrome Due To P14 Deficiency
Role
preferred
Name
T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy
Role
preferred
Name
FOXN1 Deficiency
Role
alias
Name
PN
Role
alias
Name
POIKILODERMA WITH NEUTROPENIA, CLERICUZIO-TYPE
Role
alias
Name
RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES
Role
alias
Name
Severe T-cell Immunodeficiency-congenital Alopecia-nail Dystrophy Syndrome
Role
alias
Name
Winged Helix Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017579HBDIS019523HBDIS028531HBDIS029042HBDIS029911
Omim
601705604173611943
Umls
C1835829C1858723C1866426C2677792
Icd10
D82.8
Sym Map
SMDE00107SMDE01384SMDE01478SMDE01497SMDE04421
Do Class
DOID:630DOID:7
Dis Ge Net
C0477325C1858723C1866426C2677792C4305256
Orphanet
16909590023
Umls Sty
T047
Me Sh Class
C05C10C15C16C17C18C19C20C23F03
Tcmbank Disease
195662828
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Do Class Name
genetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic diseasegenetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Immune System DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Immune System Diseases; Musculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Mental Disorders
Umls Semantic Type Name
Disease or Syndrome