Metadata | |
---|---|
ID | DOID:14694 |
Name | Johanson-Blizzard syndrome |
Definition | A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome |
Xrefs |
SNOMEDCT_US_2023_03_01:75979009 |
Subsets |
DO_rare_slim |
Synonyms |
JBS [EXACT] |
Parent Relationships |
is_a syndrome |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |