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Standards Ontologies Notations
acrocapitofemoral dysplasia

Summary
Definition
An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene.
Super Class
autosomal recessive disease osteochondrodysplasia
External Links
Disease Ontology
DOID:0050604
Mondo Disease Ontology
MeSH
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3549 IHH Indian hedgehog signaling molecule
Displaying 1 entry
Gene ID Gene Symbol Description Source
16147 Ihh Indian hedgehog
Displaying 1 entry
Gene ID Gene Symbol Description Source
180349 grd-2 Ground-like domain-containing protein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024