|
carbonic anhydrase 5A deficiency, hyperammonemia due to
|
14332 |
|
|
cerebrospinal fluid Drainages
|
43327 |
|
|
FORSYTHE-WAKELING syndrome; FWS
|
http://purl.obolibrary.org/obo/MONDO_0013321 |
|
|
brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability
|
13332 |
|
|
brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation
|
13332 |
|
|
epilepsy, familial ADULT myoclonic, 3
|
13322 |
|
|
epilepsy, familial ADULT myoclonic, 3; FAME3
|
http://purl.obolibrary.org/obo/MONDO_0013322 |
|
|
deficiency of GP 2B 3A complex
|
31332 |
|
|
deficiency of GP IIb-IIIa complex
|
31332 |
|
|
thrombasthenia of Glanzmann and Naegeli
|
31332 |
|
|
microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia
|
13321 |
|
|
carbonic anhydrase VA deficiency
|
14332 |
|
|
Platelet glycoprotein IIb-IIIa deficiency
|
31332 |
|
|
platelet glycoprotein IIb-IIIa deficiency
|
31332 |
|
|
glycoprotein Complex IIb-IIIa, deficiency of
|
31332 |
|
