Disease #05688 (ODCD (odontochondrodysplasia (ODCD, osteochondrodysplasia)), OMIM:184260)

Official abbreviation ODCD
Name odontochondrodysplasia (ODCD, osteochondrodysplasia)
OMIM ID 184260
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 17
Phenotype entries for this disease 14
Associated with 1 gene TRIP11
Associated tissues -
Disease features -
Remarks -
Date created 2020-01-31 09:10:03 +01:00 (CET)
Date last edited 2021-01-13 11:07:22 +01:00 (CET)


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00276331 FamPatII1 PubMed: Gonzaga-Jauregui 2015 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents M - Puerto Rico Hispanic - - - - ODCD short stature, scoliosis, carpal coalition, dislocated hips, radial head location, no pes caves;mild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus; decreased elbow extension bilaterally, thoracic levoscoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability COL27A1 COL27A1 1 3 Johan den Dunnen
00276332 FamPatII2 PubMed: Gonzaga-Jauregui 2015 PatII2 F - Puerto Rico Hispanic - - - - ODCD short stature, scoliosis, carpal coalition, dislocated hips, no radial head location, no pes caveslmild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus, lumbar lordosis, mild thoracic scoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability COL27A1 COL27A1 1 1 Johan den Dunnen
00276333 FamPatII3 PubMed: Gonzaga-Jauregui 2015 PatII3 F - Puerto Rico Hispanic - - - - ODCD - COL27A1 COL27A1 1 1 Johan den Dunnen
00276334 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, congenital hip dislocation COL27A1 COL27A1 1 1 Johan den Dunnen
00276335 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, congenital hip dislocation COL27A1 COL27A1 1 1 Johan den Dunnen
00276336 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, congenital hip dislocation COL27A1 COL27A1 1 1 Johan den Dunnen
00276337 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, congenital hip dislocation COL27A1 COL27A1 1 1 Johan den Dunnen
00276338 - PubMed: Belbini 2017 - - - United States Puerto Rico, Hispanic - - - - ODCD see paper; ..., short stature, leg length discrepancy COL27A1 COL27A1 1 1 Johan den Dunnen
00276340 - PubMed: Kotabagi 2017 - F no India - - - - - ODCD see paper; ..., facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis, vertical talus COL27A1 COL27A1 2 1 Johan den Dunnen
00276341 - PubMed: Gariballa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes United Arab Emirates - - - - - ODCD see paper; ..., bilateral hip dislocations, short upper limbs, normal developmental milestones, delayed speech, flat midface, short upturned nose, thin lips, mild rhizomelic shortening upper limbs with contractures right elbow, genu valgum with mild bowing femur; 2y6m severe bilateral sensorineural hearing loss COL27A1 COL27A1, GPR98, ILDR1, SYNE4 4 1 Johan den Dunnen
00276344 Pat1 PubMed: Amlie-Wolf 2020 - M - United States Puerto Rico, Hispanic - - - - ODCD radial head dislocation elbow; short stature; scoliosis COL27A1 COL27A1 1 1 Johan den Dunnen
00276345 Pat2 PubMed: Amlie-Wolf 2020 - F - United States Puerto Rico, Hispanic - - - - ODCD short stature; scoliosis COL27A1 COL27A1 1 1 Johan den Dunnen
00276346 Pat3 PubMed: Amlie-Wolf 2020 - M - United States Puerto Rico, Hispanic - - - - ODCD radial head dislocation elbow; scoliosis COL27A1 COL27A1 1 1 Johan den Dunnen
00276347 - PubMed: Pölsler 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Syria - - - - - ODCD see paper; ..., short stature, massive malalignment large joints, kyphoscoliosis, hearing loss, typical facial dysmorphism, bilateral colobomata irides, choroido‐retinae with unilateral affection macula COL27A1 COL27A1 2 1 Johan den Dunnen
00326447 - - - F no Argentina - - - - - ODCD - - TRIP11 2 1 Karen E. Heath
00326506 - family, 2 affected siblings - - - - - - - - - ODCD - - TRIP11 2 2 Karen E. Heath
00326507 - - - - - - - - - - - ODCD - TRIP11 TRIP11 2 1 Karen E. Heath
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