|
spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy; SPAX8
|
http://purl.obolibrary.org/obo/MONDO_0033043 |
|
|
Meier-Gorlin syndrome 8; MGORS8
|
http://purl.obolibrary.org/obo/MONDO_0033046 |
|
|
lactate dehydrogenase A deficiency
|
13047 |
|
|
D-HUS with B factor anomaly
|
13042 |
|
|
aHUS with B factor anomaly
|
13042 |
|
|
ectodermal dysplasia Bartalos type
|
23040 |
|
|
ectodermal dysplasia Berlin type
|
23041 |
|
|
cervical vertebral Bridge
|
7304 |
|
|
oxidase deficiencies, Cytochrome-c
|
D030401 |
|
|
oxidase deficiency, Cytochrome-c
|
D030401 |
|
|
GORLIN-Chaudhry-MOSS syndrome; GCMS
|
http://purl.obolibrary.org/obo/MONDO_0009304 |
|
|
D-HUS with I factor anomaly
|
13041 |
|
