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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: Cataract (D002386)
Parent Node: Cryptorchidism (D003456)
Parent Node: Dwarfism (D004392)
Parent Node: Intellectual Disability (D008607)
Parent Node: Nystagmus, Pathologic (D009759)
Parent Node: Strabismus (D013285)
..Starting node ..Singh Chhaparwal Dhanda syndrome (C537341)
Child Nodes:
Sister Nodes:
..Carnevale syndrome (C535586)
..Esotropia (D004948) 1
..Exotropia (D005099)
..Hemifacial Hyperplasia With Strabismus (C564199)
..Krauss Herman Holmes syndrome (C537618)
..McPherson Robertson Cammarano syndrome (C538161)
..Mehes syndrome (C536146)
..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
..Van Bogaert-Hozay syndrome (C536526)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10248
Name:	Singh Chhaparwal Dhanda syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002386\|MESH:D003456\|MESH:D004392\|MESH:D008607\|MESH:D009759\|MESH:D013285
TreeNumbers:	C05.116.099.343/C537341 \|C10.292.562.675/C537341 \|C10.292.562.887/C537341 \|C10.597.606.643/C537341 \|C11.510.245/C537341 \|C11.590.400/C537341 \|C11.590.810/C537341 \|C12.294.829.258/C537341 \|C12.706.258/C537341 \|C16.131.939.258/C537341 \|C16.320.240/C537341 \|C19.297/C5
Synonyms:
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Eye disease\|Genetic disease (inborn)\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms\|Urogenital disease (male)
Reference:	MedGen: C537341 MeSH: C537341 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants