01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 5
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Catalase deficiency
- Standard Disease Name
- catalase deficiency
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C537714
- OMIM ID
- 247990
- UMLS ID
- C0796024
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.|JABL99:A syndrome of prenatal growth deficiency, microcephaly, dysmorphic facies, absent psychomotor development, hypoplastic genitalia, convulsions, and other disorders.
Related
Related Entities
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