X-linked chondrodysplasia punctata 2

Summary
Synonym
  • Conradi-Hunermann Syndrome
  • Happle syndrome
Definition
A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
Super Class
X-linked dominant disease chondrodysplasia punctata
External Links
Disease Ontology
DOID:0080352
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
412 STS steroid sulfatase
1718 DHCR24 24-dehydrocholesterol reductase
2222 FDFT1 farnesyl-diphosphate farnesyltransferase 1
8443 GNPAT glyceronephosphate O-acyltransferase
10682 EBP EBP cholestenol delta-isomerase
50814 NSDHL NAD(P) dependent steroid dehydrogenase-like
The Human Phenotype Ontology
Displaying entries 1 - 10 of 78 in total
HPO ID HPO Term
HP:0000126 Hydronephrosis
HP:0000218 High palate
HP:0000316 Hypertelorism
HP:0000324 Facial asymmetry
HP:0000369 Low-set ears
HP:0000377 Abnormal pinna morphology
HP:0000407 Sensorineural hearing impairment
HP:0000482 Microcornea
HP:0000494 Downslanted palpebral fissures
HP:0000518 Cataract
Displaying 1 entry
Gene ID Gene Symbol Description
10682 EBP EBP cholestenol delta-isomerase

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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: August 19, 2024