Sord Results

SORD

sorbitol dehydrogenase

complex neurodevelopmental disorder

MONDO_0100038 Condition
01/08/2020

Noonan syndrome-like disorder with loose anagen hair

MONDO_0011899 Condition
Tosti syndrome
07/25/2018

neurometabolic disorder due to serine deficiency

MONDO_0018162 Condition
Serine deficiency
05/24/2019

autism spectrum disorder

MONDO_0005258 Condition
Pervasive Developmental Disorders
08/27/2018

platelet-type bleeding disorder 11

MONDO_0013623 Condition
glycoprotein VI deficiency
10/23/2019

PRPS1 deficiency disorder

MONDO_0100061 Condition
02/14/2020

10/18/2018

11/12/2018

congenital disorder of glycosylation type 1E

MONDO_0012123 Condition
Dol-P-mannosyltransferase deficiency
10/18/2018

platelet-type bleeding disorder 18

MONDO_0014386 Condition
bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
09/27/2019

autism spectrum disorder due to AUTS2 deficiency

MONDO_0014361 Condition
AUTS2 syndrome
08/22/2019

obesity disorder

MONDO_0011122 Condition
obesity
05/31/2017

specific language disorder

MONDO_0016226 Condition
Dysphasia
05/21/2019

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

MONDO_0009923 Condition
Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
05/12/2017

congenital disorder of glycosylation type 1C

MONDO_0011291 Condition
Congenital disorder of glycosylation type 1c
05/31/2017

peroxisome biogenesis disorder 14B

MONDO_0013967 Condition
Peroxisome Biogenesis Disorder type 14B
10/19/2018

platelet-type bleeding disorder 17

MONDO_0008553 Condition
Bleeding Disorder, Platelet-Type 17
11/27/2019