Disease browser and phenotype portal

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

Disease Browser
Parent Node: Cataract (D002386)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Osteochondrodysplasias (D010009)
Parent Node: Retinal Detachment (D012163)
..Starting node ..Spondyloocular Syndrome, Autosomal Recessive (C565285)
Child Nodes:
Sister Nodes:
..Diverticulosis of Bowel, Hernia, and Retinal Detachment (C565619)
..Knobloch syndrome (C537209)
..Knobloch Syndrome Type II (C548030)
..Knobloch Syndrome Type III (C548031)
..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..Retinal Nonattachment And Falciform Detachment (C566717)
..Rhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Stickler syndrome, type 1 (C537492)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10627

Name:

Spondyloocular Syndrome, Autosomal Recessive

Definition:

Alternative IDs:

ParentIDs:

MESH:D002386|MESH:D010009|MESH:D012163|MESH:D015785|MESH:D019465

TreeNumbers:

C05.116.099.708/C565285 |C05.660.207/C565285 |C11.270/C565285 |C11.510.245/C565285 |C11.768.648/C565285 |C16.131.621.207/C565285 |C16.320.290/C565285

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C565285
MeSH: C565285
OMIM: 605822;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000646	Amblyopia
3	HP:0001631	Atrial septal defect
4	HP:0004325	Decreased body weight	HP:0040283
5	HP:0100807	Long fingers
6	HP:0010511	Long toe
7	HP:0002162	Low posterior hairline
8	HP:0000369	Low-set ears
9	HP:0001634	Mitral valve prolapse
10	HP:0001324	Muscle weakness
11	HP:0000639	Nystagmus
12	HP:0000938	Osteopenia
13	HP:0001763	Pes planus
14	HP:0000358	Posteriorly rotated ears
15	HP:0000541	Retinal detachment
16	HP:0000407	Sensorineural hearing impairment
17	HP:0000914	Shield chest
18	HP:0004322	Short stature	HP:0040283
19	HP:0012741	Unilateral cryptorchidism	HP:0040283
20	HP:0002953	Vertebral compression fracture
21	HP:0000465	Webbed neck

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_022167.3(XYLT2):c.520delG (p.Ala174Profs)	64132	XYLT2	Pathogenic	797044807	RCV000190244;	N	MedGen:C1853925,OMIM:605822,ORPHA:85194	17	48431375	48431375	NM_022167.3:c.520delG	NP_071450.2:p.Ala174Profs	NC_000017.10:g.48431375delG	OMIM Allelic Variant:608125.0003	C1853925 605822 Spondyloocular syndrome, autosomal recessive
NM_022167.3(XYLT2):c.692dupC (p.Val232Glyfs)	64132	XYLT2	Pathogenic	797044806	RCV000190243;	N	MedGen:C1853925,OMIM:605822,ORPHA:85194	17	48431832	48431832	NM_022167.3:c.692dupC	NP_071450.2:p.Val232Glyfs	NC_000017.10:g.48431832dupC	OMIM Allelic Variant:608125.0002	C1853925 605822 Spondyloocular syndrome, autosomal recessive