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

57 entries on 1 page. Showing entries 1 - 57.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000020397 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024279
0000020400 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024282
0000020401 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024283
0000020412 - - - Unknown - - - - - Johan den Dunnen 00024294
0000020413 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024295
0000020414 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024296
0000020415 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024297
0000020417 - - - Unknown - - - - - Johan den Dunnen 00024299
0000020424 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024306
0000020432 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024314
0000020435 - - - Unknown - - - - - Johan den Dunnen 00024317
0000020436 - - - Unknown - - - - - Johan den Dunnen 00024318
0000020437 - - - Unknown - - - - - Johan den Dunnen 00024319
0000020461 see paper; died after 10h, ..., hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024343
0000020462 see paper; ..., hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024344
0000020463 see paper; ..., hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024345
0000020464 see paper; ..., hypochondrogenesis; remarkable phenotype radiographically by more metaphyseal involvement and clinically by absence of respiratory insufficiency in the postnatal period; died at 13m - - Unknown - - - - - Johan den Dunnen 00024346
0000020466 - - - Unknown <0d - <0d - - Isabelle Touitou 00024348
0000020467 - - - Unknown <0d - <0d - - Isabelle Touitou 00024349
0000020468 - - - Unknown <0d - <0d - - Isabelle Touitou 00024350
0000020469 - - - Unknown <0d - <0d - - Isabelle Touitou 00024351
0000020470 - - - Unknown <0d - <0d - - Isabelle Touitou 00024352
0000020471 hypochondrogenesis - - Unknown <0d - <0d - - Isabelle Touitou 00024353
0000020472 - - - Unknown <0d - <0d - - Isabelle Touitou 00024354
0000020473 - - - Unknown <0d - <0d - - Isabelle Touitou 00024355
0000020474 - - - Unknown <0d - <0d - - Isabelle Touitou 00024356
0000020475 - - - Unknown <0d - <0d - - Isabelle Touitou 00024357
0000020476 hypochondrogenesis - - Unknown <0d - <0d - - Isabelle Touitou 00024358
0000020477 hypochondrogenesis - - Unknown <0d - <0d - - Isabelle Touitou 00024359
0000020495 - - - Unknown - - - - - Johan den Dunnen 00024377
0000020509 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024391
0000020510 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024392
0000020511 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024393
0000020512 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024394
0000020514 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024396
0000020515 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024397
0000020516 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024398
0000020517 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024399
0000020533 hypochondrogenesis - - Unknown - - - - - Johan den Dunnen 00024415
0000020577 - - - Unknown - - - - - Johan den Dunnen 00024459
0000020651 - - - Unknown - - - - - Johan den Dunnen 00024533
0000020891 - - - Familial - - - - - Isabelle Touitou 00024773
0000020920 - - - Unknown - - - - - Isabelle Touitou 00024802
0000020928 - - - Unknown - - - - - Isabelle Touitou 00024810
0000020929 hypochondrogenesis - - Unknown - - - - - Isabelle Touitou 00024811
0000020930 - - - Unknown - - - - - Isabelle Touitou 00024812
0000020954 hypochondrogenesis - - Unknown - - - - - Isabelle Touitou 00024836
0000021003 - - - Unknown - - - - - Isabelle Touitou 00024885
0000021013 - - - Unknown - - - - - Isabelle Touitou 00024895
0000028959 - - - Unknown - - - - - Isabelle Touitou 00038432
0000028960 - - - Unknown - - - - - Isabelle Touitou 00038433
0000029020 17WG - - Unknown - - <0d - - Isabelle Touitou 00038493
0000038131 hypochondrogenesis - - Familial, autosomal dominant - - - - - Karina Silveira 00051540
0000087520 - - - Isolated (sporadic) - - - - - Mouna Barat-Houari 00111680
0000092595 - - - Unknown <00y00m00d <00y00m00d <00y00m00d - - Mouna Barat-Houari 00117361
0000092598 - - - Isolated (sporadic) <00y00m00d <00y00m00d <00y00m00d - - Mouna Barat-Houari 00117364
0000242310 (+) 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 prenatal - Unknown - - - - - Andreas Laner 00320269
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