Disease #00694

Official abbreviation PLSDT
Name dysplasia, skeletal, platyspondylic, Torrance type (PLSDT)
OMIM ID 151210
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
Remarks -


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00024375 - - - - - ? (unknown) - - 0 - - PLSDT - COL2A1 COL2A1 1 1 Johan den Dunnen
00024376 - - - - - ? (unknown) - - 0 - - PLSDT - COL2A1 COL2A1 1 1 Johan den Dunnen
00024383 - - - F no ? (unknown) - 0y 0 - - PLSDT small thorax with prominent abdomen, respiratory insufficiency COL2A1 COL2A1 1 1 Isabelle Touitou
00024384 - - the first child of the family had multiple congenital abnormalities ? no ? (unknown) - <0d 0 - - PLSDT - COL2A1 COL2A1 1 1 Isabelle Touitou
00024385 - - - M ? ? (unknown) - - 0 - - PLSDT - COL2A1 COL2A1 1 2 Isabelle Touitou
00024386 - - - ? ? ? (unknown) - <0d 0 - - PLSDT - COL2A1 COL2A1 1 1 Isabelle Touitou
00024387 - - - ? no ? (unknown) - 0d 0 - - PLSDT - COL2A1 COL2A1 1 1 Isabelle Touitou
00024388 - - - ? ? ? (unknown) - 22d 0 - - PLSDT - COL2A1 COL2A1 1 2 Isabelle Touitou
00024400 - - - - - ? (unknown) - - 0 - - PLSDT - COL2A1 COL2A1 1 3 Johan den Dunnen
00038411 - PubMed: Desir 2012 - F ? (Belgium) - - 0 - - PLSDT 20WG COL2A1 COL2A1 1 2 Isabelle Touitou
00038458 - PubMed: Nishimura 2005 - M ? - - - 0 - - PLSDT - COL2A1 COL2A1 1 1 Isabelle Touitou
00038459 - PubMed: Nishimura 2005 - F ? - - - 0 - - PLSDT - COL2A1 COL2A1 1 1 Isabelle Touitou
00038460 - PubMed: Okamoto 2012 germinal mosaicism M ? (Japan) - - 0 - - PLSDT 21WG COL2A1 COL2A1 1 2 Isabelle Touitou
00038461 - PubMed: Okamoto 2012 germinal mosaicism M ? (Japan) - - 0 - - PLSDT 28WG COL2A1 COL2A1 1 2 Isabelle Touitou
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