Disease association ontology term - MONDO:0014455 - cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Term summary

ID: MONDO:0014455
Name: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Ontology or CV name: Disease association

Parents

is_a hereditary endocrine growth disease
is_a mitochondrial oxidative phosphorylation disorder
is_a spondyloepiphyseal dysplasia
is_a hereditary peripheral neuropathy

Annotation

Disease association

MONDO:0014455 - cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

References:

PB_REF:0000006

Genes:

ism1 (SPCC18B5.08c)