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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: Facies (D019066)
Parent Node: Language Development Disorders (D007805)
Parent Node: Strabismus (D013285)
..Starting node ..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
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:

10431

Name:

Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease

Definition:

Alternative IDs:

ParentIDs:

MESH:D007805|MESH:D013285|MESH:D019066

TreeNumbers:

C10.292.562.887/C566677 |C10.597.606.150.500.550/C566677 |C11.590.810/C566677 |C23.550.291.812/C566677 |C23.888.592.604.150.500.550/C566677

Synonyms:

Slim Mappings:

Eye disease|Nervous system disease|Pathology (process)|Signs and symptoms

Reference:

MedGen: C566677
MeSH: C566677
OMIM: 182875;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009908	Anterior creases of earlobe
3	HP:0000750	Delayed speech and language development
4	HP:0000324	Facial asymmetry
5	HP:0000343	Long philtrum
6	HP:0000369	Low-set ears
7	HP:0001328	Specific learning disability
8	HP:0000486	Strabismus
9	HP:0007946	Unilateral narrow palpebral fissure
10	HP:0007687	Unilateral ptosis

Disease Causing ClinVar Variants