Disease browser and phenotype portal

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MSeqDR-LSDB
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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Jaw Abnormalities (D007569)
Parent Node: Strabismus (D013285)
..Starting node ..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
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:

6971

Name:

MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS

Definition:

Alternative IDs:

ParentIDs:

MESH:D007569|MESH:D008607|MESH:D013285

TreeNumbers:

C05.500.460/613671 |C05.660.207.540.460/613671 |C07.320.440/613671 |C07.650.500.460/613671 |C10.292.562.887/613671 |C10.597.606.643/613671 |C11.590.810/613671 |C16.131.621.207.540.460/613671 |C16.131.850.500.460/613671 |C23.888.592.604.646/613671 |F03.550.600/6136

Synonyms:

MRAMS

Slim Mappings:

Reference:

MedGen: 613671
MeSH: 613671
OMIM: 613671;

Genes: SOBP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000646	Amblyopia	HP:0040283
3	HP:0000750	Delayed speech and language development
4	HP:0000565	Esotropia	HP:0040283
5	HP:0001263	Global developmental delay
6	HP:0000540	Hypermetropia	HP:0040283
7	HP:0010864	Intellectual disability, severe
8	HP:0010807	Open bite
9	HP:0002465	Poor speech
10	HP:0000709	Psychosis	HP:0040283
11	HP:0000736	Short attention span
12	HP:0000505	Visual impairment	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_018013.3(SOBP):c.1981C>T (p.Arg661Ter)	55084	SOBP	Pathogenic	267607078	RCV000000003;	N	MedGen:C3150924,OMIM:613671	6	107956029	107956029	NM_018013.3:c.1981C>T	NP_060483.3:p.Arg661Ter	NC_000006.11:g.107956029C>T	OMIM Allelic Variant:613667.0001	C3150924 613671 Mental retardation, anterior maxillary protrusion, and strabismus