Disease browser and phenotype portal

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MSeqDR-LSDB
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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Facies (D019066)
Parent Node: Intellectual Disability (D008607)
Parent Node: Marfan Syndrome (D008382)
..Starting node ..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
Child Nodes:
Sister Nodes:
..Cutis Laxa-Marfanoid Syndrome (C563639)
..Furlong syndrome (C538192)
..Lujan Fryns syndrome (C537724)
..Marfan Syndrome type 2 (C535911)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..Marfanoid Habitus with Situs Inversus (C563814)
..Marfanoid hypermobility syndrome (C531742)
..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
..Shprintzen Golberg craniosynostosis (C537328)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6792

Name:

Marfanoid Mental Retardation Syndrome, Autosomal

Definition:

Alternative IDs:

ParentIDs:

MESH:D008382|MESH:D008607|MESH:D019066

TreeNumbers:

C05.116.099.674/C565410 |C10.597.606.643/C565410 |C14.240.400.725/C565410 |C14.280.400.725/C565410 |C16.131.077.550/C565410 |C16.131.240.400.720/C565410 |C16.320.540/C565410 |C17.300.500/C565410 |C23.550.291.812/C565410 |C23.888.592.604.646/C565410 |F03.550.600/C5

Synonyms:

Slim Mappings:

Reference:

MedGen: C565410
MeSH: C565410
OMIM: 248770;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001166	Arachnodactyly
3	HP:0012368	Flat face
4	HP:0001263	Global developmental delay
5	HP:0001252	Hypotonia
6	HP:0001249	Intellectual disability
7	HP:0000272	Malar flattening
8	HP:0003758	Reduced subcutaneous adipose tissue
9	HP:0000098	Tall stature

Disease Causing ClinVar Variants