Craniodiaphyseal dysplasia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CRANIODIAPHYSEAL DYSPLASIA
1513C0410539MONDO:0009031
SOST Unknown
21221996
Disgenet, GWAS catalog, Orphanet
SP7 Unknown
36436818
Disgenet, Orphanet —
CRANIOECTODERMAL DYSPLASIA
C45515711515MESH:C562966MONDO:0009032
CILK1 Unknown — Disgenet —
IFT43 Unknown
22791528 24027799
CTD, Disgenet, Orphanet
IFT52 Unknown
26880018 27466190
Disgenet, Orphanet
CRANIOECTODERMAL DYSPLASIA 1
C0432235
IFT43 Unknown — Disgenet
WDR19 Unknown — Disgenet
WDR35 Unknown — Disgenet
CRANIOECTODERMAL DYSPLASIA 5
MONDO:0976269
IFT140 Unknown — ClinVar
All10 Causal7 Unknown8
Related Diseases Diseases that share the most curated genes with Craniodiaphyseal dysplasia.
5 View disease cluster →
Short rib dysplasia-polydactyly syndrome 7 shared genesIFT43, IFT122, IFT140, IFT52, WDR19, WDR35, CILK1 Related via 7 shared genes including IFT43, IFT122, IFT140. Short-rib thoracic dysplasia 5 shared genesIFT43, IFT140, IFT52, WDR19, WDR35 Related via 5 shared genes including IFT43, IFT140, IFT52. Mainzer-saldino disease 2 shared genesIFT140, WDR19 Related via 2 shared genes including IFT140, WDR19. Jeune thoracic dystrophy 5 shared genesIFT43, IFT140, IFT52, WDR19, WDR35 Related via 5 shared genes including IFT43, IFT140, IFT52. IFT140-related recessive ciliopathy 1 shared geneIFT140 Related via 1 shared gene including IFT140.