Disease #00786

Official abbreviation TOD
Name terminal osseous dysplasia (TOD)
OMIM ID 300244
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene FLNA
Associated tissues -
Disease features -
Remarks -


Individuals

10 entries on 1 page. Showing entries 1 - 10.
Legend  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age/Death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00028869 - PubMed: Breuning 2000, PubMed: Sun 2010 30:70 X-inactivation in mother F - Netherlands - - 0 - - TOD ### FLNA FLNA 3 1 Yu Sun
00028870 - PubMed: Breuning 2000, PubMed: Sun 2010 - F - Netherlands - - 0 - - TOD skin face pigmentary anomalies, digital fibromatosis; limbs metacarpal/metatarsal disorganisation, long bones anomalies, articular abnormalities, no syndactyly; face iris coloboma, flat depressed nasal tip, no cleft palate; lower lip no papillomata FLNA FLNA 3 1 Yu Sun
00028871 - PubMed: Baroncini 2007, PubMed: Sun 2010 - F - Italy - - 0 - - TOD none FLNA FLNA 2 1 Yu Sun
00028872 - PubMed: Baroncini 2007, PubMed: Sun 2010 ### F - Italy - - 0 - - TOD - FLNA FLNA 2 1 Yu Sun
00028873 - PubMed: Sun 2010 digital fibromatosis; limbs brachydactyly, clinodactyly, no long bones anomalies F - Israel - - 0 - - TOD - FLNA FLNA 1 1 Yu Sun
00028874 - PubMed: Sun 2010 - F - Israel - - 0 - - TOD digital fibromatosis; limbs syndactyly, clinodactyly, long bones anomalies; face hypertelorism/telecanthus, epicanthic folds, no cleft palate FLNA FLNA 1 1 Yu Sun
00028875 - PubMed: Sun 2010 - F - Israel - - 0 - - TOD skin face pigmentary anomalies, digital fibromatosis; limbs syndactyly, brachydactyly, clinodactyly, camptodactyly, metatarsal disorganisation, long bones anomalies; face hypertelorism/telecanthus, cleft palate FLNA FLNA 1 1 Yu Sun
00028876 - PubMed: Horii 1998, PubMed: Sun 2010 - F - Japan - - 0 - - TOD ### FLNA FLNA 1 1 Yu Sun
00028877 - PubMed: Drut 2005, PubMed: Sun 2010 - F - Argentina - - 0 - - TOD skin face pigmentary anomalies, scalp; digital fibromatosis; metacarpal/metatarsal disorganisation, long bones anomalies, articular abnormalities, no syndactyly; face no flat depressed nasal tip/cleft palate/iris coloboma FLNA FLNA 1 1 Yu Sun
00028878 - PubMed: Sun 2010 - F - Netherlands - - 0 - - TOD skin face pigmentary anomalies, digital fibromatosis; metacarpal/metatarsal disorganisation, long bones anomalies, articular abnormalities, no syndactyly; face no iris coloboma; lower lip no preauricular pits/tags FLNA FLNA 1 1 Yu Sun
Legend  

  Powered by LOVD v.3.0 Build 22
LOVD software ©2004-2019 Leiden University Medical Center 		There are currently no updates.