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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

Disease Browser
Parent Node: Brachydactyly (D059327)
Parent Node: Facies (D019066)
Parent Node: Intellectual Disability (D008607)
Parent Node: Pierre Robin Syndrome (D010855)
..Starting node ..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
Child Nodes:
Sister Nodes:
..Catel Manzke syndrome (C535347)
..Chitayat Meunier Hodgkinson syndrome (C535926)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Femoral facial syndrome (C537916)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Pierre Robin Sequence with Facial and Digital Anomalies (C564078)
..Pierre Robin sequence with pectus excavatum and rib and scapular anomalies (C535775)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Radial defect Robin sequence (C536261)
..Richieri Costa Pereira syndrome (C535677)
..Robin sequence and oligodactyly (C535688)
..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
..Sanderson Fraser syndrome (C537232)
..Stevenson-Carey Syndrome (C567446)
..Stoll Alembik Dott syndrome (C537497)
..TARP syndrome (C536942)
..Thrombocytopenia Robin sequence (C536898)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9888
Name:	Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Definition:
Alternative IDs:
ParentIDs:	MESH:D008607\|MESH:D010855\|MESH:D019066\|MESH:D059327
TreeNumbers:	C05.500.460.606/C563880 \|C05.660.207.540.460.606/C563880 \|C05.660.585.262/C563880 \|C07.320.440.606/C563880 \|C07.650.500.460.606/C563880 \|C10.597.606.643/C563880 \|C16.131.621.207.540.460.606/C563880 \|C16.131.621.585.262/C563880 \|C16.131.850.500.460.606/C563880 \|C2
Synonyms:
Slim Mappings:	Congenital abnormality\|Mental disorder\|Mouth disease\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C563880 MeSH: C563880 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants