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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: Blepharoptosis (D001763)
Parent Node: Pupil Disorders (D011681)
Parent Node: Strabismus (D013285)
..Starting node ..McPherson Robertson Cammarano syndrome (C538161)
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:	6855
Name:	McPherson Robertson Cammarano syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001763\|MESH:D011681\|MESH:D013285
TreeNumbers:	C10.292.562.887/C538161 \|C10.597.690/C538161 \|C11.338.204/C538161 \|C11.590.810/C538161 \|C11.710/C538161 \|C23.888.592.708/C538161
Synonyms:	Dominantly inherited ptosis, strabismus and ectopic pupils
Slim Mappings:	Eye disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C538161 MeSH: C538161 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants