Disease #00331

Official abbreviation MANDP-1
Name anadysplasia, metaphyseal, type 1 (MANDP-1, dysplasia, spondyloepimetaphyseal, Missouri type)
OMIM ID 602111
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene MMP13
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00016333 - PubMed: Lausch 2009 4-generation family, 3 affecteds (3F) F no Germany - - 0 - - MANDP-1 severe bowed legs in infancy, micromelia, short stature MMP13 MMP13 1 3 Dong Li
00016334 - PubMed: Lausch 2009 4-generation family, 4 affecteds (F, 3M) - no Germany - - 0 - - MANDP-1 bowed legs in infancy, micromelia, short stature MMP13 MMP13 1 4 Dong Li
00016335 - PubMed: Lausch 2009 2-generation family, 3 affecteds (3F) F no Japan - - 0 - - MANDP-1 bowed legs in infancy, micromelia, short stature MMP13 MMP13 1 3 Dong Li
00016336 - PubMed: Lausch 2009 2-generation family, 1 affected M yes Morocco - - 0 - - MANDP-1 mild bowed legs in infancy, micromelia, short stature MMP13 MMP13 2 1 Dong Li
00016337 - PubMed: Kennedy 2005 4-generation family, 14 affecteds (7F, 7M) - no United Kingdom (Great Britain) - - 0 - - MANDP-1 - MMP13 MMP13 1 14 Dong Li
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