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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: Hand Deformities, Congenital (D006228)
Parent Node: Pierre Robin Syndrome (D010855)
..Starting node ..Chitayat Meunier Hodgkinson syndrome (C535926)
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:	2079
Name:	Chitayat Meunier Hodgkinson syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D006228\|MESH:D010855
TreeNumbers:	C05.390.408/C535926 \|C05.500.460.606/C535926 \|C05.660.207.540.460.606/C535926 \|C05.660.585.988.425/C535926 \|C07.320.440.606/C535926 \|C07.650.500.460.606/C535926 \|C16.131.621.207.540.460.606/C535926 \|C16.131.621.585.425/C535926 \|C16.131.850.500.460.606/C535926
Synonyms:	Robin sequence with facial and digital anomalies
Slim Mappings:	Congenital abnormality\|Mouth disease\|Musculoskeletal disease
Reference:	MedGen: C535926 MeSH: C535926 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants