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: Birth Weight (D001724)
Parent Node: Diabetes Complications (D048909)
Parent Node: Diabetes, Gestational (D016640)
Parent Node: Fetal Diseases (D005315)
Parent Node: Pregnancy in Diabetics (D011254)
..Starting node ..Fetal Macrosomia (D005320)
Child Nodes:
........Macrosomia obesity macrocephaly ocular abnormalities (C535812)
........Macrosomia with lethal microphthalmia (C537830)
........Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor (C536399)
........Pseudotrisomy 13 syndrome (C535829)
Sister Nodes:
..Fetal Macrosomia (D005320) 4
..Verloove-Vanhorick Brubakk syndrome (C536541)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4254
Name:	Fetal Macrosomia
Definition:	A condition of fetal overgrowth leading to a large-for-gestational-age FETUS. It is defined as BIRTH WEIGHT greater than 4,000 grams or above the 90th percentile for population and sex-specific growth curves. It is commonly seen in GESTATIONAL DIABETES; PROLONGED PREGNANCY; and pregnancies complicated by pre-existing diabetes mellitus.
Alternative IDs:
ParentIDs:	MESH:D001724\|MESH:D005315\|MESH:D011254\|MESH:D016640\|MESH:D048909
TreeNumbers:	C13.703.170.500 \|C13.703.277.570 \|C13.703.726.570 \|C16.300.570 \|C19.246.099.968 \|C23.888.144.186.500
Synonyms:	Fetal Macrosomias \|Macrosomia, Fetal \|Macrosomias, Fetal
Slim Mappings:	Endocrine system disease\|Fetal disease\|Pregnancy complication\|Signs and symptoms
Reference:	MedGen: D005320 MeSH: D005320 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants