# craniometaphyseal dysplasia

> osteosclerosis that has material basis in mutations in the ANKH gene which results in progressive thickening located in skull and abnormally shaped ends of long bones in the limbs

**Wikidata**: [Q3710209](https://www.wikidata.org/wiki/Q3710209)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Craniometaphyseal_dysplasia)  
**Source**: https://4ort.xyz/entity/craniometaphyseal-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
5. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
6. Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
7. A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
8. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19
9. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
10. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)