Disease #02804 (Spondylometaphyseal dysplasia with cone-rod dystrophy, OMIM:608940)

Official abbreviation -
Name Spondylometaphyseal dysplasia with cone-rod dystrophy
OMIM ID 608940
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease -
Phenotype entries for this disease -
Associated with 1 gene PCYT1A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited N/A