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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: Osteochondrodysplasias (D010009)
Parent Node: Pierre Robin Syndrome (D010855)
..Starting node ..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
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:

8930

Name:

Pierre Robin syndrome with fetal chondrodysplasia

Definition:

Alternative IDs:

OMIM:277610

ParentIDs:

MESH:D010009|MESH:D010855

TreeNumbers:

C05.116.099.708/C535776 |C05.500.460.606/C535776 |C05.660.207.540.460.606/C535776 |C07.320.440.606/C535776 |C07.650.500.460.606/C535776 |C16.131.621.207.540.460.606/C535776 |C16.131.850.500.460.606/C535776

Synonyms:

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C535776
MeSH: C535776
OMIM: 277610;

Genes: COL11A2;

Phenotypes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_080680.2(COL11A2):c.4322G>A (p.Gly1441Glu)	1302	COL11A2	Pathogenic	121912946	RCV000018660; RCV000018661;	N	; MedGen:C1848488,OMIM:277610,ORPHA:3450	6	33134513	33134513	NM_080680.2:c.4322G>A	NP_542411.2:p.Gly1441Glu	NC_000006.11:g.33134513C>T	OMIM Allelic Variant:120290.0004	C1848488 277610 Weissenbacher-Zweymuller syndrome