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Standards Ontologies Notations
lethal congenital contracture syndrome

Summary
Definition
A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
Super Class
autosomal recessive disease physical disorder syndrome
Disease Ontology
DOID:0060558
Mondo Disease Ontology
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
112 ADCY6 adenylate cyclase 6
1785 DNM2 dynamin 2
8506 CNTNAP1 contactin associated protein 1
57211 ADGRG6 adhesion G protein-coupled receptor G6
91754 NEK9 NIMA related kinase 9
342035 GLDN gliomedin
Displaying all 4 entries
Gene ID Gene Symbol Description Source
13430 Dnm2 dynamin 2
53321 Cntnap1 contactin associated protein-like 1
215798 Adgrg6 adhesion G protein-coupled receptor G6
235379 Gldn gliomedin
Displaying all 3 entries
Gene ID Gene Symbol Description Source
25289 Adcy6 adenylate cyclase 6
84008 Cntnap1 contactin associated protein 1
315675 Gldn gliomedin
Displaying 1 entry
Gene ID Gene Symbol Description Source
39387 Nrx-IV Neurexin IV
Displaying 1 entry
Gene ID Gene Symbol Description Source
561970 adgrg6 adhesion G protein-coupled receptor G6
Displaying all 2 entries
Gene ID Gene Symbol Description Source
178167 nlr-1 Neurexin like receptor 1
183582 cof-2 Olfactomedin-like domain-containing protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
853870 VPS1 dynamin-like GTPase VPS1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024