DiseaseID 6072
先天性红细胞生成性卟啉症
disease
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestati
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Disease: 1Symptom: 10Target: 12Links: 22
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6072
- Core Entity Id
- 62669
- Source Entity Count
- 1
- Preferred Name
- Porphyria, Erythropoietic
- Name Cn
- 先天性红细胞生成性卟啉症
- Name Pinyin
- Xian Tian Xing Hong Xi Bao Sheng Cheng Xing Bu Lin Zheng
- Name En
- Porphyria, Erythropoietic
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entity
- Disease Definition
- Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestati
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Porphyria, Erythropoietic
Role
preferred
Name
Deficiency Of Uroporphyrinogen Iii Synthase
Role
preferred
Name
Porphyria, Congenital Erythropoietic
Role
preferred
Name
Autosomal Erythropoietic Protoporphyria
Role
preferred
Name
Erythropoietic Protoporphyria
Role
preferred
Name
Ferrochelatase Deficiency
Role
preferred
Name
PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Role
preferred
Name
Protoporphyria, Erythropoietic, X-Linked Dominant
Role
preferred
Name
CEP
Role
alias
Name
Cutaneous Porphyria
Role
alias
Name
Deficiency, Ferrochelatase
Role
alias
Name
GUNTHER DISEASE
Role
alias
Name
Hereditary Erythropoietic Porphyria
Role
alias
Name
Protoporphyria, Erythropoietic
Role
alias
Name
Protoporphyria, Erythropoietic, X-Linked
Role
alias
Name
UROPORPHYRINOGEN III SYNTHASE DEFICIENCY
Role
alias
Name
UROS DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS004125HBDIS004135HBDIS008465HBDIS019528HBDIS019687HBDIS027518
Me Sh
D017092D046351
Omim
177000263700300752
Umls
C0162530C0162568C2718078
Icd10
E80.0
Med Dra
10015289
Sym Map
SMDE00324SMDE01081SMDE07760SMDE08716SMDE12321
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0162530C0162568C0349426C2677889C2718078C4692546
Orphanet
79278
Umls Sty
T047
Me Sh Class
C06C16C17C18
Tcmbank Disease
138542734730273551184018533
Itcmdb Generated
ITX-DISEASE-4E586F231529
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Do Class Name
disease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
genetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestatiNCI2016_02D:A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen III cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.|MSH2017_2016_08_12:An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.|CSP2006:autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy; results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts.
Me Sh Disease Class
Digestive System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesSkin 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; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Disease or Syndrome