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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: Abnormalities, Multiple (D000015)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Intellectual Disability (D008607)
Parent Node: Pterygium (D011625)
..Starting node ..Pterygium colli mental retardation digital anomalies (C535831)
Child Nodes:
Sister Nodes:
..Fetal akinesia syndrome, X-linked (C537921)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..Powell Chandra Saal syndrome (C538357)
..Pterygium colli mental retardation digital anomalies (C535831)
..Pterygium Of Conjunctiva And Cornea (C566740)
..Rubinstein Taybi like syndrome (C535877)
..Thompson Baraitser syndrome (C536515)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9457
Name:	Pterygium colli mental retardation digital anomalies
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006228\|MESH:D008607\|MESH:D011625
TreeNumbers:	C05.390.408/C535831 \|C05.660.585.988.425/C535831 \|C10.597.606.643/C535831 \|C11.187.781/C535831 \|C16.131.077/C535831 \|C16.131.621.585.425/C535831 \|C23.888.592.604.646/C535831 \|F03.550.600/C535831
Synonyms:	Khalifa Graham syndrome \|Pterygium colli and mental retardation with facial and digital anomalies
Slim Mappings:	Congenital abnormality\|Eye disease\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C535831 MeSH: C535831 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants