Mandibulofacial dysostosis

Disease Term Disease ID Gene Symbol Classification References Source
MANDIBULOFACIAL DYSOSTOSIS
C0242387MESH:D008342
EFTUD2 Causal — Disgenet
POLR1B Unknown — Disgenet
POLR1C Unknown
21131976
CTD Disgenet
POLR1D Unknown
21131976
CTD Disgenet
TCOF1 Unknown
16938878
CTD Disgenet
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
443995616367MONDO:0014608OMIM:616367C4225349
EDNRA Causal
25772936
CTD ClinVar GWAS catalog HPO Orphanet
MANDIBULOFACIAL DYSOSTOSIS WITH IMPAIRED INTELLECTUAL DEVELOPMENT
C4692584
ABCA4 Unknown — Disgenet
MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
610536OMIM:610536
EFTUD2 Unknown — CTD HPO
MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE
C1855433MESH:C535707
POLR1C Unknown — CTD Disgenet
MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME
79113MONDO:0012516
EFTUD2 Causal
22305528 23188108 31413053 30343593 28643921 27670155 26507355 25735261 25387991 24470203 23879989 23239648 26118977 29381487 32408545 32541334 32943010 34693919 35175019 35395430 35435265 35732499 24999515
ClinGen ClinVar GWAS catalog Orphanet