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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: Microcephaly (D008831)
Parent Node: Psychomotor Disorders (D011596)
..Starting node ..MacDermot Winter syndrome (C537714)
Child Nodes:
Sister Nodes:
..Apraxias (D001072) 10
..Bowen-Conradi syndrome (C537081)
..C SYNDROME (OMIM:211750)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Diaminopentanuria (C565630)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Edinburgh Malformation Syndrome (C563051)
..Fumaric aciduria (C538191)
..Genitopatellar Syndrome (C565255)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..Hypomyelination, Global Cerebral (C567847)
..Ichthyosis prematurity syndrome (C536271)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..MacDermot Winter syndrome (C537714)
..Megarbane syndrome (C536145)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Psychomotor Agitation (D011595) 1
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6651
Name:	MacDermot Winter syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D008831\|MESH:D011596
TreeNumbers:	C05.660.207.620/C537714 \|C10.500.507.400.500/C537714 \|C10.597.606.881/C537714 \|C16.131.621.207.620/C537714 \|C16.131.666.507.400.500/C537714 \|C23.888.592.604.882/C537714
Synonyms:	MacDermot-Winter syndrome \|Prominent glabella microcephaly hypogenitalism
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C537714 MeSH: C537714 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants