Phenotypes for disease #01160 (ACRDYS-1 (acrodysostosis, with/without hormone resistance (ACRDYS-1)), OMIM:101800)

33 entries on 1 page. Showing entries 1 - 33.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Stature     

Growth     

Malformation/Genital     

Thyroid/Dysfunction     

Hearing/Loss     

Nose/Bridge     

Nose/Alae     

Teeth/Anomalies     

Scoliosis     

Brachydactyly     

Bone/Age     

Teeth/Number     

Eye/Orbital     

Protein     

Head/Skull     

Calcification     

Face/Cheeks     

Development     

Eye/Lens/Cataract     

Eye/Movement     

Face/Shape     

Facial/Nose     

Hand_Feet/Abnormal     

Hair/Pigmentation     

Hormone     

Calcium     

Intellectual_dis     

Ion_Homeostasis     

Neck     

Weight     

Ossification/Ectopic     

Bone/Density     

Puberty     

Reproduction/Abnormal/Physiology     

Testis/Abnormal     

Vitamin     

Owner     

Individual ID     
0000059623 hypospadias - - Unknown - 11y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00079987
0000059624 advanced bone age, caeliac disease, glucose intolerance with insulin resistance, severe peripheral dysostosis - - Familial, autosomal dominant - 08y - fmelli - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00079988
0000059625 IUGR, neonatal hypoglycemia, enamel dysplasia - - Unknown - 32y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00079989
0000059626 IUGR, neonatal hypoglycemia, gastroesophageal reflux, dysmorphic spines - - Unknown - 10y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00079990
0000059712 PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots - - Unknown - 15y - fmelli - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080137
0000059714 short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck - - Unknown - 31y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080149
0000059715 TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, cone-shaped epiphyses - - Unknown - 11y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080150
0000059716 PTH resistance, short stature, brachydactily, cone-shaped epiphyses, FSH resistance - - Unknown - 31y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080151
0000059717 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses - - Unknown - 3,10y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080152
0000059719 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily - - Unknown - 12y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080154
0000059726 TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation - - Unknown - 3,9y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080161
0000059727 PTH resistance, short stature, brachydactily, cone-shaped epiphyses - - Unknown - 26y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080162
0000059728 PTH resistance, TSH resistance, brachydactily, cone-shaped epiphyses - - Unknown - 08y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080163
0000059729 PTH resistance3, Tsh resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses - - Unknown - 13y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080164
0000059730 PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses - - Unknown - 34y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080165
0000059731 PTH resistance, TSH resistance, short stature, brachydactily, IUGR, cone-shaped epiphyses - - Unknown - 22y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080166
0000059732 short stature, dysmorphic facies, brachydactily, mental retardation, moderate mixed hearing loss, congenital hypothyroidism, unilateral undescended testis - - Unknown - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080167
0000059733 short stature, dysmorphic facies, brachydactily, mental retardation - - Unknown - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080168
0000059739 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age - - Unknown - 03y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080174
0000059740 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, +1digit - - Unknown - 14y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080175
0000059741 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily - - Unknown - 24y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080176
0000059743 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance - - Unknown - 20,4y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080179
0000059744 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age - - Unknown - 05y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080180
0000060263 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA - - Unknown - 24y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080691
0000060264 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance - - Unknown - 16y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080692
0000060265 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age - - Unknown - 11y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080693
0000060266 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance - - Unknown - 26y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080694
0000060267 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance - - Unknown - 13y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080695
0000060268 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance - - Unknown - 4,5y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080696
0000060269 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA - - Unknown - 11y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080697
0000060270 PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA - - Unknown - 8,6y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080698
0000060271 PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA - - Unknown - 12,6y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli 00080699
0000104275 - - - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Karina Silveira 00132070
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