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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Acrocapitofemoral dysplasia | |
| Synonyms |
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| Definitions |
A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_63446 |
|
| definition |
A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63446 |
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| has_age_of_onset |
Infancy Neonatal
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
UMLS:C1843096 ICD-10:Q78.8 MeSH:C564334 OMIM:607778 ICD-11:LD24.8Y
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| label |
Acrocapitofemoral dysplasia
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| notation |
ORPHA:63446
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_63446
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| prefLabel |
Acrocapitofemoral dysplasia
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|
| present_in |
Europe AND has_point_prevalence_range : <1 / 1 000 000
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| treeView | ||
| subClassOf |
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