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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: Abnormalities, Multiple (D000015)
Parent Node: Upper Extremity Deformities, Congenital (D038062)
..Starting node ..Hypomelia mullerian duct anomalies (C537155)
Child Nodes:
Sister Nodes:
..Absent radii and thrombocytopenia (C536940)
..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
..Fryns Hofkens Fabry syndrome (C538069)
..Hand Deformities, Congenital (D006228) 134
..Holt-Oram syndrome (C535326)
..Hypomelia mullerian duct anomalies (C537155)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Radio renal syndrome (C536267)
..Tamari Goodman syndrome (C536896)
..Terminal Transverse Defects of Arm (C565681)
..Ulnar hypoplasia lobster claw deformity of feet (C536936)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5589
Name:	Hypomelia mullerian duct anomalies
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D038062
TreeNumbers:	C05.660.585.988/C537155 \|C16.131.077/C537155 \|C16.131.621.585.988/C537155
Synonyms:	Hypomelia with Mullerian Duct Anomalies \|Limb uterus syndrome \|Limb-Uterus Syndrome \|Severe upper limb hypoplasia and Mullerian duct anomalies
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C537155 MeSH: C537155 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants