Also known as:
CDG 2B, CDG IIb, CDG syndrome type IIb, CDG-IIb, CDG2B, GCS1-CDG, MOGS-CDG, MOGS-CDG (CDG-IIb), MOGS-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type IIb, congenital disorder of glycosylation type 2b, congenital disorder of glycosylation type IIb, congenital disorder of glycosylation, type IIb, glucosidase 1 deficiency
Also known as:
MOMO syndrome, macrocephaly-obesity-mental disability-ocular abnormalities syndrome, macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), macrosomia, obesity, macrocephaly, and ocular abnormalities, macrosomia, obesity, macrocephaly, ocular abnormalities, macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
Also known as:
primary MCAS, primary mast cell activation syndrome
Also known as:
DCML, Dendritic cell, monocyte, B and NK lymphoid deficiency, Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency, GATA2 deficiency, IMD21, MonoMAC, combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections, combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections, immunodeficiency 21, immunodeficiency type 21, monocyte - B - natural killer - dendritic cell deficiency, monocyte-B-natural killer-dendritic cell deficiency syndrome, monocytopenia and mycobacterial infection syndrome, monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia
Also known as:
Hirayama disease, JMADUE, amyotrophy, monomelic, benign focal amyotrophy, juvenile muscular atrophy of distal upper extremity, juvenile muscular atrophy of the distal upper limb, spinal muscular atrophy juvenile nonprogressive, spinal muscular atrophy, juvenile, nonprogressive
Also known as:
Mononen Karnes Senac syndrome, Mononen type brachydactyly, brachydactyly Mononen type, brachydactyly, Mononen type, short and abducted thumbs and great toes, skeletal dysplasia brachydactyly, skeletal dysplasia-brachydactyly syndrome, thumbs and great toes short and abducted, thumbs and great toes, short and abducted
Also known as:
Del(13)(q34), distal deletion 13q34, monosomy type 13q34, subtelomeric deletion 13q34
Also known as:
Del(22), deletion 22, monosomy type 22