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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: Craniofacial Abnormalities (D019465)
Parent Node: Facies (D019066)
Parent Node: Intellectual Disability (D008607)
Parent Node: Pterygium (D011625)
..Starting node ..Haspeslagh Fryns Muelenaere syndrome (C535844)
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:	4908
Name:	Haspeslagh Fryns Muelenaere syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D008607\|MESH:D011625\|MESH:D019066\|MESH:D019465
TreeNumbers:	C05.660.207/C535844 \|C10.597.606.643/C535844 \|C11.187.781/C535844 \|C16.131.621.207/C535844 \|C23.550.291.812/C535844 \|C23.888.592.604.646/C535844 \|F03.550.600/C535844
Synonyms:	Distinctive craniofacial features with Pterygia and mental retardation \|Haspeslagh syndrome \|Mental retardation with pterygia, shortness and distinct facial appearance \|Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Slim Mappings:	Congenital abnormality\|Eye disease\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C535844 MeSH: C535844 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants