Cystathioninemia

Symptom Information:

Symptom ID: HPO:0003286
Synonyms:
Cystathioninaemia [HPO:0003286]
Cystathioninemia [OMIM:Cystathioninemia]
Quality:
Cross references:
OMIM: "Cystathioninemia" [OMIM:Cystathioninemia]
UMLS:C0268618 "Cystathioninaemia" [HPO:0003286]
Is a (Direct Parents):
HPO         Abnormality of sulfur amino acid metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Abnormality of sulfur amino acid metabolism(HPO:0004339)
                   Cystathioninemia(HPO:0003286)
MedDRA:
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)