|
spastic paraplegia 37, autosomal dominant
|
12766 |
|
|
spastic paraplegia 37, autosomal dominant; SPG37
|
http://purl.obolibrary.org/obo/MONDO_0012766 |
|
|
parkinson disease 6, autosomal recessive early-onset
|
C565276 |
|
|
parkinson disease 6, early-onset
|
C565276 |
|
|
Bernard-Soulier syndrome; BSS
|
http://purl.obolibrary.org/obo/MONDO_0009276 |
|
|
macrothrombocytopenia, familial Bernard-Soulier type
|
9276 |
|
|
obsolete protein C deficiency
|
2767.0 |
|
|
chromosome 3q29 DUPLICATION syndrome
|
12761 |
|
|
Apolipoprotein A-I Deficiency
|
32766 |
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76
|
32768 |
|
|
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination
|
32768 |
|
|
Von Willebrand Factor receptor deficiency
|
9276 |
|
|
lymphedema, hereditary, IB; LMPH1B
|
http://purl.obolibrary.org/obo/MONDO_0012765 |
|
