Disease #01435

Official abbreviation -
Name chondrodysplasia, metaphyseal, Murk Jansen type
OMIM ID 156400
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 12
Phenotype entries for this disease 0
Associated with 1 gene PTH1R
Associated tissues -
Disease features -
Remarks -


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00095937 - PubMed: Schipani 1995 - F - (United States) - - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
00095938 - PubMed: Silverthorn 1987 - M - (Canada) - - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
00095939 - PubMed: Charrow and Poznanski 1984 2-generation family, 2 affecteds (mother and daughter) F - (United States) - - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 2 Arrate Pereda
00095940 - PubMed: Charrow and Poznanski 1984 2-generation family, 2 affecteds (mother and daughter) F - (United States) - - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
00095941 - PubMed: Gram 1959 - ? - (United States) - - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
00095969 - PubMed: Kessel 1992 - ? no (United Kingdom (Great Britain)) - - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
00095974 - PubMed: Schipani 1999 - F - - Asian - 0 - intranasal salmon calcitonin, alendronate (10 mg, twice per week) chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
00095975 - PubMed: Schipani 1999 - F no ? (unknown) Arabic (Northen Africa) - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
00095977 - PubMed: Schipani 1999 - M no (United States) Caucasian - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
00100209 - PubMed: Bastepe 2004 2-generation family, 3 affecteds (2 sons and father) M no Morocco Moroccan (father), Kurdish (mother) - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 3 Arrate Pereda
00100210 - PubMed: Bastepe 2004 - M no Morocco Moroccan (father), Kurdish (mother) - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
00100211 - PubMed: Bastepe 2004 - M ? Morocco Moroccan Jewish - 0 - - chondrodysplasia, metaphyseal, Murk Jansen type - PTH1R PTH1R 1 1 Arrate Pereda
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