Disease #01753 (RCDP-2 (chondrodysplasia punctata, rhizomelic, type 2 (RCDP-2)), OMIM:222765)

Official abbreviation RCDP-2
Name chondrodysplasia punctata, rhizomelic, type 2 (RCDP-2)
OMIM ID 222765
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 6
Associated with 1 gene GNPAT
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Disease features -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00245707 - - 2-generation family, 3 affecteds (2M, F) - yes - - - 0 - - RCDP-2 - GNPAT GNPAT 1 3 -
00245708 - - - - - - - - 0 - - RCDP-2 - GNPAT GNPAT 1 1 -
00245709 - - - - - - - - 0 - - RCDP-2 - GNPAT GNPAT 1 1 -
00245710 - - - - - - - - 0 - - RCDP-2 - GNPAT GNPAT 1 1 -
00245711 - - - - - - - - 0 - - RCDP-2 - GNPAT GNPAT 1 1 -
00245712 - - - - - - - - 0 - - RCDP-2 - GNPAT GNPAT 1 1 -
00245714 - - - M - - - - 0 - - RCDP-2 - GNPAT GNPAT 1 1 Brandon Itzkovitz
00245715 - - - M - - - - 0 - - RCDP-2 - GNPAT GNPAT 1 1 Brandon Itzkovitz
00245716 - - - - - - - - 0 - - RCDP-2 Less severe GNPAT GNPAT 1 1 Brandon Itzkovitz
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