Disease #00694

Official abbreviation PLSDT
Name dysplasia, skeletal, platyspondylic, Torrance type (PLSDT)
OMIM ID 151210
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
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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