Phenotypes for disease #00786 (TOD (terminal osseous dysplasia (TOD)), OMIM:300244)

10 entries on 1 page. Showing entries 1 - 10.
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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     
0000024870 ### - - Familial 1m - - - - Yu Sun 00028869
0000024871 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 - - Familial 3m - - - - Yu Sun 00028870
0000024872 none - - Familial - - - - - Yu Sun 00028871
0000024873 - - - Familial 7m - - - - Yu Sun 00028872
0000024874 - - - Familial - - - - - Yu Sun 00028873
0000024875 digital fibromatosis; limbs syndactyly, clinodactyly, long bones anomalies; face hypertelorism/telecanthus, epicanthic folds, no cleft palate - - Familial 2m - - - - Yu Sun 00028874
0000024876 skin face pigmentary anomalies, digital fibromatosis; limbs syndactyly, brachydactyly, clinodactyly, camptodactyly, metatarsal disorganisation, long bones anomalies; face hypertelorism/telecanthus, cleft palate - - Familial 0d - - - - Yu Sun 00028875
0000024899 ### - - Isolated (sporadic) 3m - - - - Yu Sun 00028876
0000024900 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 - - Isolated (sporadic) - - - - - Yu Sun 00028877
0000024901 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 - - Isolated (sporadic) 4m - - - - Yu Sun 00028878
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