Gene Dossiers

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Gene dossier Disorders Genes
Odontoonychodermal Dysplasia And Related Phenotypes

Cardiff RGC - 2011

Ohdo Syndrome

Manchester RGC - 2013

Ohdo Syndrome

London South East RGC GSTT - 2013

  • Ohdo Syndrome
    • Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, and Hypoplastic Teeth
    • Ohdo Blepharophimosis Syndrome
  • lysine acetyltransferase 6B
    • histone acetyltransferase MYST4
    • K(lysine) acetyltransferase 6B
    • monocytic leukemia zinc finger protein-related factor
    • MYST histone acetyltransferase (monocytic leukemia) 4
    • querkopf
Ohdo Syndrome

Manchester RGC - 2013

  • Ohdo Syndrome
    • Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, and Hypoplastic Teeth
    • Ohdo Blepharophimosis Syndrome
  • lysine acetyltransferase 6B
    • histone acetyltransferase MYST4
    • K(lysine) acetyltransferase 6B
    • monocytic leukemia zinc finger protein-related factor
    • MYST histone acetyltransferase (monocytic leukemia) 4
    • querkopf
Ohdo Syndrome, SBBYS Variant

Manchester RGC - 2013

  • Ohdo Syndrome, SBBYS Variant
    • Say-Barber-Biesecker-Young-Simpson Syndrome
    • Young-Simpson Syndrome
  • lysine acetyltransferase 6B
    • histone acetyltransferase MYST4
    • K(lysine) acetyltransferase 6B
    • monocytic leukemia zinc finger protein-related factor
    • MYST histone acetyltransferase (monocytic leukemia) 4
    • querkopf
Ohdo Syndrome, SBBYS Variant

London South East RGC GSTT - 2013

  • Ohdo Syndrome, SBBYS Variant
    • Say-Barber-Biesecker-Young-Simpson Syndrome
    • Young-Simpson Syndrome
  • lysine acetyltransferase 6B
    • histone acetyltransferase MYST4
    • K(lysine) acetyltransferase 6B
    • monocytic leukemia zinc finger protein-related factor
    • MYST histone acetyltransferase (monocytic leukemia) 4
    • querkopf
Opitz-Kaveggia Syndrome

Cambridge RGC - 2010

  • Opitz-Kaveggia Syndrome
    • Fg Syndrome
    • Fg Syndrome 1
    • Keller Syndrome
    • Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
  • mediator complex subunit 12
    • human opposite paired gene
    • mediator of rna polymerase II transcription, subunit 12, s. cerevisiae, homolog of
    • thyroid hormone receptor-associated protein, 230-kd subunit
    • trinucleotide repeat-containing gene 11
Optic Atrophy 1

Cardiff RGC - 2008

  • Optic Atrophy 1
    • Kjer Type Optic Atrophy
    • Optic Atrophy, Juvenile
    • Optic Atrophy, Kjer Type
  • OPA1, mitochondrial dynamin like GTPase
    • optic atrophy 1 (autosomal dominant)
    • optic atrophy 1 gene
Osteogenesis Imperfecta Types VII, VIII And IX

Sheffield RGC - 2010

Osteogenesis Imperfecta, Type III

Sheffield RGC - 2007

  • Osteogenesis Imperfecta, Type III
    • Oi, Type III
    • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae
  • collagen, type I, alpha 1
    • COL1A1/PDGFB fusion gene, included
    • collagen of skin, tendon, and bone, alpha-1 chain
    • collagen, type I, alpha-1
  • collagen, type I, alpha 2 chain
    • collagen of skin, tendon, and bone, alpha-2 chain
    • collagen, type I, alpha 2
    • collagen, type I, alpha-2

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