Disease #00688 (ACG2 (achondrogenesis, type II (hypochondrogenesis, ACG-2)), OMIM:200610)

Official abbreviation ACG2
Name achondrogenesis, type II (hypochondrogenesis, ACG-2)
OMIM ID 200610
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 59
Phenotype entries for this disease 57
Associated with 1 gene COL2A1
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

59 entries on 1 page. Showing entries 1 - 59.
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00024279 - - - - - United States - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 2 1 Johan den Dunnen
00024282 - - - - - United States - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024283 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024294 - - - - - ? (unknown) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024295 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024296 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024297 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024299 - - - - - ? (unknown) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024306 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024314 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024317 - - - - - ? (unknown) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024318 - - - - - ? (unknown) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024319 - - - - - ? (unknown) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024343 - PubMed: Mortier 2000 - F - United States - <00y00m01d 0 - - ACG2 see paper; died after 10h, ..., hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024344 - PubMed: Mortier 2000 - F - United States - 00y00m02d 0 - - ACG2 see paper; ..., hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024345 - PubMed: Mortier 2000 - F - United States - 01y01m 0 - - ACG2 see paper; ..., hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024346 - PubMed: Mortier 2000 - M - United States - 00y13m 0 - - ACG2 see paper; ..., hypochondrogenesis; remarkable phenotype radiographically by more metaphyseal involvement and clinically by absence of respiratory insufficiency in the postnatal period; died at 13m COL2A1 COL2A1 1 1 Johan den Dunnen
00024348 - - - F ? ? (unknown) - <0d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024349 - - - F ? ? (unknown) - <0d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024350 - - - F ? ? (unknown) - <0d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024351 - - - M ? ? (unknown) - <0d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024352 - - - M ? ? (unknown) - <0d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024353 - - - M ? ? (unknown) - <0d 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Isabelle Touitou
00024354 - - - F ? ? (unknown) - <0d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024355 - - - F no ? (unknown) - <0d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024356 - - - F ? ? (unknown) - <0d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024357 - - - F ? ? (unknown) - <0d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024358 - - - F ? ? (unknown) - <0d 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Isabelle Touitou
00024359 - - - F ? ? (unknown) - <0d 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Isabelle Touitou
00024377 - - - - - ? (unknown) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024391 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024392 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024393 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024394 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024396 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024397 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024398 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024399 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024415 - - - - - ? (unknown) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Johan den Dunnen
00024459 - - - - - ? (unknown) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024533 - - - - - ? (unknown) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Johan den Dunnen
00024773 - - fetus M no France;Germany;Poland - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024802 - - - F - (France) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024810 - - - F - (France) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024811 - - - F - (France) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Isabelle Touitou
00024812 - - - M - (France) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024836 - - - F - (France) - - 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Isabelle Touitou
00024885 - - - F - (France) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00024895 - - - F - (France) - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00038432 - PubMed: Mortier 2000 - M ? (United States) - 1d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00038433 - PubMed: Mortier 2000 - F ? (United States) - 2d 0 - - ACG2 - COL2A1 COL2A1 1 1 Isabelle Touitou
00038493 - Barat-Houari et al, pers.comm. - F ? (France) - - 0 - - ACG2 17WG COL2A1 COL2A1 1 1 Isabelle Touitou
00051540 - - - ? ? Brazil - 00y01m 0 - - ACG2 hypochondrogenesis COL2A1 COL2A1 1 1 Karina Silveira
00111680 - - - F no (France) - - 0 MTP at 18WG - ACG2 - COL2A1 COL2A1 1 1 Mouna Barat-Houari
00117351 - - - M ? (France) - <00y00m00d 0 22WG - ACG2 - COL2A1 COL2A1 1 1 Mouna Barat-Houari
00117361 - - - F ? (France) - <00y00m00d 0 - - ACG2 - COL2A1 COL2A1 1 1 Mouna Barat-Houari
00117364 - - - F - (France) - <00y00m00d 0 - - ACG2 - COL2A1 COL2A1 1 1 Mouna Barat-Houari
00132065 7 - - M ? Brazil - - 0 - - ACG2 - COL2A1 COL2A1 1 1 Karina Silveira
00320269 173155 - prenatal sample M ? (Spain) - - 0 - - ACG2 (+) Abnormality of the thorax,(+) Deformed rib cage,(+) Abnormality of the skeletal system,(+) Wrist flexion contracture,(+) Bell-shaped thorax,(+) Bilateral talipes equinovarus,(+) Skeletal dysplasia,(+) Abnormality of limb bone morphology,(+) Talipes cavus equinovarus,(+) Multiple skeletal anomalies,(+) Aplasia/hypoplasia involving the skeleton,(+) Limb undergrowth,(+) Abnormality of joint mobility,(+) Abnormality of skeletal morphology,(+) Abnormality of skeletal physiology,(+) Bilateral wrist flexion contracture,(+) Abnormality of limb bone,(+) Contractures of the joints of the upper limbs COL2A1 COL2A1 1 1 Andreas Laner
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