Disease #01528 (PSACH (pseudoachondroplasia (PSACH)), OMIM:177170)

Official abbreviation PSACH
Name pseudoachondroplasia (PSACH)
OMIM ID 177170
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 121
Phenotype entries for this disease 40
Associated with 1 gene COMP
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-03-22 09:56:43 +01:00 (CET)


Individuals

121 entries on 2 pages. Showing entries 1 - 100.
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00247798 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247799 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247800 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247801 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247802 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247803 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247804 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247805 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247806 - - - - - - - - - - - PSACH moderately severe COMP COMP 1 1 Michael Briggs
00247808 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247809 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247810 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247811 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247814 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247816 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247817 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247818 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247819 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247821 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247823 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247824 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247825 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247826 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247827 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247828 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247829 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247830 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247831 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247832 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247833 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247834 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247836 - - - - - - - - - - - PSACH mild COMP COMP 1 1 LOVD
00247838 - - - - - - - - - - - PSACH mild COMP COMP 1 1 LOVD
00247839 - - - - - - - - - - - PSACH severe COMP COMP 1 1 LOVD
00247840 - - - - - - - - - - - PSACH severe COMP COMP 1 1 LOVD
00247841 - - - - - - - - - - - PSACH severe COMP COMP 1 1 LOVD
00247842 - - - - - - - - - - - PSACH mild COMP COMP 1 1 LOVD
00247843 - - - - - - - - - - - PSACH severe COMP COMP 1 1 LOVD
00247844 - - - - - - - - - - - PSACH mild COMP COMP 1 1 LOVD
00247845 - - - - - - - - - - - PSACH mild COMP COMP 1 1 LOVD
00247846 - - - - - - - - - - - PSACH severe COMP COMP 1 1 LOVD
00247847 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247848 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247849 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247850 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247851 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247852 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247853 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247855 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247856 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247859 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247860 - - - - - - - - - - - PSACH severe COMP COMP 1 1 LOVD
00247861 - - - - - - - - - - - PSACH, SEDC - COMP COMP 1 11 LOVD
00247863 - - - - - - - - - - - PSACH mild COMP COMP 1 1 LOVD
00247866 - - - - - - - - - - - PSACH mild COMP COMP 1 1 LOVD
00247868 - - - - - - - - - - - PSACH severe COMP COMP 1 1 LOVD
00247869 - - - - - - - - - - - PSACH severe COMP COMP 1 1 LOVD
00247870 - - - - - - - - - - - PSACH mild COMP COMP 1 1 LOVD
00247872 - - - - - - - - - - - PSACH mild COMP COMP 1 1 LOVD
00247873 - - - - - - - - - - - PSACH severe COMP COMP 1 1 LOVD
00247877 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247879 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247880 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247881 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247882 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247885 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247887 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247894 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247895 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247897 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247899 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247900 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247901 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247902 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247908 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247909 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247916 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247917 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247918 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247919 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247920 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247922 - - family, 4 affecteds - - - - - - - - PSACH moderately severe COMP COMP 1 4 Michael Briggs
00247923 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247924 - - - - - - - - - - - PSACH - COMP COMP 1 1 LOVD
00247925 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247927 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247932 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247938 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247940 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247948 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247949 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247950 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247952 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247953 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247954 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247955 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247956 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247957 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247961 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
00247962 - - - - - - - - - - - PSACH - COMP COMP 1 1 Michael Briggs
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