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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Mandibulofacial Dysostosis (D008342)
..Starting node ..Mandibulofacial Dysostosis with Mental Deficiency (C565420)
Child Nodes:
Sister Nodes:
..Acrofacial dysostosis Catania form (C538182)
..Acrofacial dysostosis Rodriguez type (C538183)
..Acrofacial dysostosis, Nager type (C538184)
..Acrofacial dysostosis, Palagonia type (C538185)
..Acrofrontofacionasal dysostosis syndrome (C538186)
..Acromelic Frontonasal Dysostosis (C566345)
..Branchial arch syndrome X-linked (C537102)
..Fara Chlupackova syndrome (C537074)
..Genee-Wiedemann syndrome (C537680)
..Goldenhar Syndrome (D006053) 1
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Mandibulofacial Dysostosis with Mental Deficiency (C565420)
..Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant (C564267)
..Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive (C535707)
..Opitz Reynolds Fitzgerald syndrome (C535713)
..Patterson Stevenson syndrome (C536311) 1
..Richieri Costa Guion-Almeida syndrome (C535676)
..TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6769

Name:

Mandibulofacial Dysostosis with Mental Deficiency

Definition:

Alternative IDs:

ParentIDs:

MESH:D008342|MESH:D008607

TreeNumbers:

C05.116.099.370.231.576/C565420 |C05.660.207.231.576/C565420 |C10.597.606.643/C565420 |C16.131.621.207.231.576/C565420 |C23.888.592.604.646/C565420 |F03.550.600/C565420

Synonyms:

Slim Mappings:

Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C565420
MeSH: C565420
OMIM: 248400;

Genes:

Phenotypes

1	HP:0000356	Abnormality of the outer ear
2	HP:0000494	Downslanted palpebral fissures
3	HP:0001249	Intellectual disability
4	HP:0000652	Lower eyelid coloboma
5	HP:0000272	Malar flattening
6	HP:0005321	Mandibulofacial dysostosis

Disease Causing ClinVar Variants