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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: Blepharophimosis (D016569)
Parent Node: Foot Deformities (D005530)
Parent Node: Hypertelorism (D006972)
Parent Node: Strabismus (D013285)
..Starting node ..Krauss Herman Holmes syndrome (C537618)
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:	6145
Name:	Krauss Herman Holmes syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D005530\|MESH:D006972\|MESH:D013285\|MESH:D016569
TreeNumbers:	C05.116.099.370.231.480/C537618 \|C05.330/C537618 \|C05.660.207.231.480/C537618 \|C10.292.562.887/C537618 \|C11.250.090/C537618 \|C11.338.190/C537618 \|C11.590.810/C537618 \|C16.131.077/C537618 \|C16.131.384.190/C537618 \|C16.131.621.207.231.480/C537618
Synonyms:	Telecanthus, hypertelorism, strabismus, and pes cavus syndrome
Slim Mappings:	Congenital abnormality\|Eye disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C537618 MeSH: C537618 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants