Disease browser and phenotype portal

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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: Dermatitis, Atopic (D003876)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Intellectual Disability (D008607)
Parent Node: Obesity (D009765)
Parent Node: Prognathism (D011378)
..Starting node ..MOMES Syndrome (C564660)
Child Nodes:
Sister Nodes:
..Jorgenson Lenz syndrome (C536292)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..MOMES Syndrome (C564660)
..Prognathism, Mandibular (C562559)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7364
Name:	MOMES Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003876\|MESH:D005124\|MESH:D008607\|MESH:D009765\|MESH:D011378
TreeNumbers:	C05.500.460.655/C564660 \|C05.500.607.655/C564660 \|C05.660.207.540.460.655/C564660 \|C07.320.440.655/C564660 \|C07.320.610.655/C564660 \|C07.650.500.460.655/C564660 \|C10.597.606.643/C564660 \|C11.250/C564660 \|C16.131.384/C564660 \|C16.131.621.207.540.460.655/C564660 \|C1
Synonyms:	Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies
Slim Mappings:	Congenital abnormality\|Eye disease\|Genetic disease (inborn)\|Immune system disease\|Mental disorder\|Mouth disease\|Musculoskeletal disease\|Nervous system disease\|Nutrition disorder\|Signs and symptoms\|Skin disease
Reference:	MedGen: C564660 MeSH: C564660 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants