Phenotypes for disease #01811 (GO (geroderma osteodysplasticum), OMIM:231070)

20 entries on 1 page. Showing entries 1 - 20.
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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     
0000325162 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434915
0000325163 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434916
0000325164 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434917
0000325165 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434918
0000325166 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434919
0000325167 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434920
0000325168 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434921
0000325169 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434922
0000325170 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434923
0000325171 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434924
0000325172 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434925
0000325173 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434926
0000325174 wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability gerodermia osteodysplastica GO Familial, autosomal recessive - - - - - Johan den Dunnen 00434927
0000325230 typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), radiology normal bone density; congenital dislocation hip geroderma osteodysplastica GO Familial, autosomal recessive 05y - - - - Johan den Dunnen 00434983
0000325231 typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), reduced bone density; radiology kyphoscoliosis, cod-fish vertebrae, low Z score; recurrent fractures geroderma osteodysplastica GO Familial, autosomal recessive 14y - - - - Johan den Dunnen 00434984
0000325232 typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), radiology minimally reduced bone density; one fracture, delayed closure of anterior fontanelle geroderma osteodysplastica GO Familial, autosomal recessive 05y - - - - Johan den Dunnen 00434985
0000325233 typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); short stature; radiology minimal reduction in bone density geroderma osteodysplastica GO Familial, autosomal recessive 11y - - - - Johan den Dunnen 00434986
0000325234 typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); congenital dislocation hip, recurrent fractures; radiology low Z score, abnormal cephalometric measurements geroderma osteodysplastica GO Familial, autosomal recessive 10y - - - - Johan den Dunnen 00434987
0000325235 typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); recurrent fracture; radiology low Z score, abnormal cephalometric measurements geroderma osteodysplastica GO Familial, autosomal recessive 15y - - - - Johan den Dunnen 00434988
0000325236 typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); fractures in childhood; radiology reduced bone density geroderma osteodysplastica GO Familial, autosomal recessive 26y - - - - Johan den Dunnen 00434989
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