Disease #01920 (aciduria, methylmalonic, cblA type, OMIM:251100)

Official abbreviation -
Name aciduria, methylmalonic, cblA type
OMIM ID 251100
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene MMAA
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00080797 - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - 0 - - aciduria, methylmalonic, cblA type Methylmalonic aciduria, vitamin B12-responsive (OMIM:251100) MMAA MMAA 2 1 Daniel Trujillano
Legend   How to query