Disease association ontology term - MONDO:0016596 - hyperphosphatasia-intellectual disability syndrome

Term summary

ID: MONDO:0016596
Name: hyperphosphatasia-intellectual disability syndrome
Ontology or CV name: Disease association

Parents

excluded_subClassOf syndromic intellectual disability
is_a developmental anomaly of metabolic origin
is_a syndromic dyslipidemia
is_a inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a congenital limb malformation

Annotation

Disease association

MONDO:0009398 - hyperphosphatasia with intellectual disability syndrome 1

References:

PB_REF:0000006

Genes:

gpi18 (SPAC18B11.05)

MONDO:0013882 - hyperphosphatasia with intellectual disability syndrome 2

References:

PB_REF:0000006

Genes:

gpi13 (SPBC27B12.06)

MONDO:0014318 - hyperphosphatasia with intellectual disability syndrome 4

References:

PB_REF:0000006

Genes:

pga3 (SPAC823.07)

MONDO:0014457 - hyperphosphatasia with intellectual disability syndrome 5

References:

PB_REF:0000006

Genes:

gwt1 (SPAC144.10c)

MONDO:0014780 - hyperphosphatasia with intellectual disability syndrome 6

References:

PB_REF:0000006

Genes:

pig25 (SPAC227.19c)