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Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982. MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population. It is associated with the protein pericentrin (PCNT).

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  • Nanisme microcéphalique ostéodysplasique primordial type II (fr)
  • Microcephalic osteodysplastic primordial dwarfism type II (en)
  • Pierwotna karłowatość osteodysplastyczna mikrocefaliczna (pl)
rdfs:comment
  • Le nanisme primordial microcéphalique ostéodysplasique de type II (MOPD II en anglais pour Microcephalic osteodysplastic primordial dwarfism) est une forme de nanisme associée à des anomalies cérébrales et squelettiques. Il a été caractérisé en 1982. Le MOPD II est répertorié comme une maladie rare par le (ORD) des National Institutes of Health (NIH). Cela indique que la MOPD (ou un sous-type de MOPD) affecte moins de 200 000 personnes dans la population américaine. Il est associé à la protéine (PCNT). (fr)
  • Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982. MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population. It is associated with the protein pericentrin (PCNT). (en)
  • Pierwotna karłowatość osteodysplastyczna mikrocefaliczna (ang. microcephalic osteodysplastic primordial dwarfism) – zespół wad wrodzonych uwarunkowany genetycznie. Dziedziczenie jest autosomalne recesywne. Przyczyną choroby są mutacje w genie PCNT2 kodującym białko perycentrynę-2. Mutacje w tym samym genie powodują zespół Seckla typu 4, są to zatem schorzenia alleliczne. (pl)
foaf:name
  • Microcephalic osteodysplastic primordial dwarfism type II (en)
name
  • Microcephalic osteodysplastic primordial dwarfism type II (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_recessive_-_en.svg
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ICD
  • Q87.1 (en)
OMIM
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caption
  • Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner (en)
synonyms
  • Majewski osteodysplastic primordial dwarfism type II (en)
has abstract
  • Le nanisme primordial microcéphalique ostéodysplasique de type II (MOPD II en anglais pour Microcephalic osteodysplastic primordial dwarfism) est une forme de nanisme associée à des anomalies cérébrales et squelettiques. Il a été caractérisé en 1982. Le MOPD II est répertorié comme une maladie rare par le (ORD) des National Institutes of Health (NIH). Cela indique que la MOPD (ou un sous-type de MOPD) affecte moins de 200 000 personnes dans la population américaine. Il est associé à la protéine (PCNT). (fr)
  • Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982. MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population. It is associated with the protein pericentrin (PCNT). (en)
  • Pierwotna karłowatość osteodysplastyczna mikrocefaliczna (ang. microcephalic osteodysplastic primordial dwarfism) – zespół wad wrodzonych uwarunkowany genetycznie. Dziedziczenie jest autosomalne recesywne. Przyczyną choroby są mutacje w genie PCNT2 kodującym białko perycentrynę-2. Mutacje w tym samym genie powodują zespół Seckla typu 4, są to zatem schorzenia alleliczne. (pl)
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ICD10
  • Q87.1
OMIM id
ORPHA
  • 2937
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