Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Oculopharyngeal Muscular Dystrophy; OPMD 164300
poly(A) binding protein, nuclear 1; PABPN1 602279
  • Neurology, Adult
Odontoonychodermal Dysplasia; OODD 257980
Wnt family member 10A; WNT10A 606268
  • Clinical Genetics
  • Dental Surgery, Paediatric
  • Dermatology, Paediatric
Ohdo Syndrome 249620
lysine acetyltransferase 6B; KAT6B 605880
  • Clinical Genetics
Ohdo Syndrome, SBBYS Variant; SBBYSS 603736
lysine acetyltransferase 6B; KAT6B 605880
  • Clinical Genetics
Opitz-Kaveggia Syndrome; OKS 305450
mediator complex subunit 12; MED12 300188
  • Clinical Genetics
Optic Atrophy 1; OPA1 165500
OPA1, mitochondrial dynamin like GTPase; OPA1 605290
  • Clinical Genetics
  • Ophthalmology, Paediatric
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To 311250
ornithine carbamoyltransferase; OTC 300461
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
Osteogenesis Imperfecta, Type II; OI2 166210
collagen, type I, alpha 1; COL1A1 120150
collagen, type I, alpha 2 chain; COL1A2 120160
  • Clinical Genetics
Osteogenesis Imperfecta, Type III; OI3 259420
collagen, type I, alpha 1; COL1A1 120150
collagen, type I, alpha 2 chain; COL1A2 120160
  • Clinical Genetics
Osteogenesis Imperfecta, Type IV; OI4 166220
collagen, type I, alpha 1; COL1A1 120150
collagen, type I, alpha 2 chain; COL1A2 120160
  • Clinical Genetics

Filters

Search filters