DiseaseID 6077
急性间歇性卟啉病
disease
Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cuta
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Disease: 1Symptom: 12Target: 9Links: 21
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6077
- Core Entity Id
- 62675
- Source Entity Count
- 1
- Preferred Name
- Acute Intermittent Porphyria
- Name Cn
- 急性间歇性卟啉病
- Name Pinyin
- Ji Xing Jian Xie Xing Bu Lin Bing
- Name En
- Acute Intermittent Porphyria
- 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 Diseases
- Do Class
- genetic 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 Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cuta
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Acute Intermittent Porphyria
Role
preferred
Name
Porphyria, Acute Intermittent, Nonerythroid Variant
Role
preferred
Name
Hydroxymethylbilane Synthase Deficiency
Role
preferred
Name
Porphyria, Acute Intermittent
Role
preferred
Name
Porphobilinogen Deaminase Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS004133HBDIS018406HBDIS020432
Me Sh
D017118
Omim
176000
Umls
C0162565C0268322C1867969C2936779
Sym Map
SMDE02129SMDE02370SMDE09576SMDE12320
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0162565C1867969C2936779
Orphanet
79276
Umls Sty
T047
Me Sh Class
C06C16C17C18
Tcmbank Disease
118632885631416
Itcmdb Generated
ITX-DISEASE-CEBDF88167B5
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaNCI2016_02D:A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain.|MSH2017_2016_08_12:An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Me Sh Disease Class
Digestive System Diseases; Skin 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 Diseases
Umls Semantic Type Name
Disease or Syndrome