Disease association ontology term - MONDO:0019216 - inborn disorder of amino acid transport

Term summary

ID: MONDO:0019216
Name: inborn disorder of amino acid transport
Ontology or CV name: Disease association

Parents

is_a inborn disorder of amino acid metabolism

Annotation

Disease association

MONDO:0009067 - cystinuria

References:

PB_REF:0000003

Genes:

put4 (SPAC869.10c)

MONDO:0014392 - developmental and epileptic encephalopathy, 25

References:

PB_REF:0000006

Genes:

plt1 (SPBC3B8.04c)

MONDO:0014593 - developmental and epileptic encephalopathy, 29

References:

PB_REF:0000006

Genes:

ala1 (SPAC23C11.09)

MONDO:0014598 - developmental and epileptic encephalopathy, 31A

References:

PB_REF:0000006

Genes:

MONDO:0014625 - developmental and epileptic encephalopathy, 33

References:

PB_REF:0000006

Genes:

MONDO:0014933 - developmental and epileptic encephalopathy, 44

References:

Genes:

MONDO:0009448 - iminoglycinuria

References:

PB_REF:0000006

Genes:

avt3 (SPAC3H1.09c)

MONDO:0009109 - lysinuric protein intolerance

References:

PB_REF:0000003

Genes:

put4 (SPAC869.10c)

MONDO:0010645 - oculocerebrorenal syndrome

References:

PB_REF:0000006

Genes:

inp53 (SPAC9G1.10c)

MONDO:0018614 - undetermined early-onset epileptic encephalopathy

References:

PB_REF:0000003

Genes: