Disease #00786

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

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