Disease association ontology term - MONDO:0017355 - inborn disorder of proline metabolism

Term summary

ID: MONDO:0017355
Name: inborn disorder of proline metabolism
Ontology or CV name: Disease association
Definition: An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.

Parents

is_a inborn disorder of amino acid metabolism
is_a inborn disorder of ornithine or proline metabolism

Annotation

Disease association

MONDO:0009053 - ALDH18A1-related de Barsy syndrome

References:

PB_REF:0000006

Genes:

MONDO:0014702 - autosomal recessive complex spastic paraplegia type 9B

References:

PB_REF:0000006

Genes:

MONDO:0018163 - autosomal recessive cutis laxa type 2A

References:

PB_REF:0000006

Genes:

vph1 (SPAC16E8.07c)

MONDO:0013051 - autosomal recessive cutis laxa type 2B

References:

PB_REF:0000006

Genes:

pro3 (SPAPYUG7.05)

MONDO:0027462 - autosomal recessive cutis laxa type 2C

References:

PB_REF:0000006

Genes:

vma4 (SPAC11E3.07)

MONDO:0027451 - autosomal recessive cutis laxa type 2D

References:

PB_REF:0000006

Genes:

vma1 (SPAC343.05)

MONDO:0014706 - cutis laxa, autosomal dominant 3

References:

PB_REF:0000006

Genes:

MONDO:0011006 - hereditary spastic paraplegia 9A

References:

PB_REF:0000006

Genes:

MONDO:0009400 - hyperprolinemia type 1

References:

PB_REF:0000006

Genes:

put1 (SPCC70.03c)

MONDO:0009401 - hyperprolinemia type 2

References:

PB_REF:0000006

Genes:

put2 (SPBC24C6.04)

MONDO:0010208 - wrinkly skin syndrome

References:

PB_REF:0000006

Genes:

vph1 (SPAC16E8.07c)