"Prominent supraorbital arches in adult"[Clinical Features] OR 320494[ - MedGen

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Metaphyseal chondrodysplasia, Jansen type

The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002). [from OMIM]

MedGen UID:: 120529
•Concept ID:: C0265295
•: Disease or Syndrome

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Select item 3204942.

Prominent supraorbital arches in adult

MedGen UID:: 320494
•Concept ID:: C1834993
•: Finding

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Genes
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"Prominent supraorbital arches in adult"[Clinical Features] OR 32... (2)
"Prominent supraorbital arches in adult"[Clinical Features] OR 320494[uid]
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MedGen
RecName: Full=Protein kinase C delta type; AltName: Full=Tyrosine-protein kinase...
RecName: Full=Protein kinase C delta type; AltName: Full=Tyrosine-protein kinase PRKCD; AltName: Full=nPKC-delta; Contains: RecName: Full=Protein kinase C delta type regulatory subunit; Contains: RecName: Full=Protein kinase C delta type catalytic subunit; AltName: Full=Sphingosine-dependent protein kinase-1; Short=SDK1
gi|205371776|sp|Q05655.2|KPCD_HUMAN

Protein

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