loading...| Preferred Name | Geleophysic dysplasia | |
| Synonyms |
Geleophysic dwarfism |
|
| Definitions |
A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2623 |
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| alternative_term |
Geleophysic dwarfism |
|
| definition |
A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2623 |
|
| has_age_of_onset |
Childhood |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
ICD-10:Q87.1 OMIM:617809 MedDRA:10063361 OMIM:614185 OMIM:231050 UMLS:C3489726 ICD-11:LD24.8Y |
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| label |
Geleophysic dysplasia |
|
| notation |
ORPHA:2623 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_2623 |
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| prefLabel |
Geleophysic dysplasia |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 27.0 (Case) |
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| treeView | ||
| subClassOf |