Molybdenum cofactor deficiency

Symptom Information:

Symptom ID: HPO:0003570
Synonyms:
Molybdenum cofactor deficiency [OMIM:Molybdenum cofactor deficiency]
Molybdenum cofactor deficiency [MedDRA:10069687]
Quality:
Cross references:
OMIM: "Molybdenum cofactor deficiency" [OMIM:Molybdenum cofactor deficiency]
Is a (Direct Parents):
HPO         Abnormality of metabolism/homeostasis
MedDRA Seizures and seizure disorders NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Molybdenum cofactor deficiency(HPO:0003570)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Seizures(HPO:0001250)
       Seizures and seizure disorders NEC(MedDRA:10039912)
          Molybdenum cofactor deficiency(HPO:0003570)
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)