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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Acrocapitofemoral dysplasia | |
| Synonyms |
ACFD |
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| Definitions |
(ACFD) - A disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles. |
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| ID |
http://identifiers.org/omim/607778 |
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| altLabel |
ACFD
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| definition |
(ACFD) - A disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.
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| id |
OMIM:607778
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| notation |
OMIM:607778
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| prefLabel |
Acrocapitofemoral dysplasia
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| subClassOf |
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