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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

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Disease Browser
Parent Node: Thanatophoric Dysplasia (D013796)
..Starting node ..Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (C563627)
Child Nodes:
Sister Nodes:
..Kozlowski Warren Fisher syndrome (C537614)
..Larsen like syndrome, lethal type (C537872)
..Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (C563627)
..Short limb dwarf lethal Colavita Kozlowski type (C537597)
..Skeletal dysplasia, San Diego type (C536670)
..Thanatophoric dysplasia Glasgow variant (C536506)
..Thanatophoric dysplasia, type 2 (C536508)
..Thanatophoric Dysplasia, Type I (C566844)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9004

Name:

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Definition:

Alternative IDs:

OMIM:151210

ParentIDs:

MESH:D013796

TreeNumbers:

C05.116.099.343.110.500/C563627 |C05.116.099.708.017.500/C563627 |C05.660.585.984/C563627 |C16.131.621.585.984/C563627 |C16.320.240.500.500/C563627 |C16.614.890/C563627

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Musculoskeletal disease

Reference:

MedGen: C563627
MeSH: C563627
OMIM: 151210;

Genes: COL2A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004298	Abnormality of the abdominal wall
3	HP:0000280	Coarse facial features
4	HP:0005451	Decreased cranial base ossification
5	HP:0004591	Disc-like vertebral bodies
6	HP:0003180	Flat acetabular roof
7	HP:0000946	Hypoplastic ilia
8	HP:0003175	Hypoplastic ischia
9	HP:0003173	Hypoplastic pubic bone
10	HP:0005716	Lethal skeletal dysplasia
11	HP:0000256	Macrocephaly
12	HP:0003021	Metaphyseal cupping
13	HP:0000774	Narrow chest
14	HP:0008921	Neonatal short-limb short stature
15	HP:0001538	Protuberant abdomen
16	HP:0200083	Severe limb shortening
17	HP:0004565	Severe platyspondyly
18	HP:0003026	Short long bone
19	HP:0000470	Short neck
20	HP:0000773	Short ribs
21	HP:0000883	Thin ribs

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
NM_001844.4(COL2A1):c.4447_4450delCCGG (p.Pro1483Serfs)	1280	COL2A1	Pathogenic	794727761	RCV000179141;	N	MedGen:C1835437,OMIM:151210,ORPHA:85166	12	48367204	48367207	NM_001844.4:c.4447_4450delCCGG	NP_001835.3:p.Pro1483Serfs	NC_000012.11:g.48367204_48367207delCCGG	-	C1835437 151210 Platyspondylic lethal skeletal dysplasia Torrance type
NM_001844.4(COL2A1):c.4172A>G (p.Tyr1391Cys)	1280	COL2A1	Pathogenic	121912889	RCV000022482; RCV000018931;	N	MedGen:C0796173,OMIM:271700,ORPHA:1856; MedGen:C1835437,OMIM:151210,ORPHA:85166	12	48368017	48368017	NM_001844.4:c.4172A>G	NP_001835.3:p.Tyr1391Cys	NC_000012.11:g.48368017T>C	OMIM Allelic Variant:120140.0039	C1835437 151210 Platyspondylic lethal skeletal dysplasia Torrance type; C0796173 271700 Spondyloperipheral dysplasia
NM_001844.4(COL2A1):c.3943T>G (p.Cys1315Gly)	1280	COL2A1	not provided	527236144	RCV000190277;	N	MedGen:C1835437,OMIM:151210,ORPHA:85166	12	48368589	48368589	NM_001844.4:c.3943T>G	NP_001835.3:p.Cys1315Gly	NC_000012.11:g.48368589A>C	-	C1835437 151210 Platyspondylic lethal skeletal dysplasia Torrance type
NM_001844.4(COL2A1):c.1799G>T (p.Gly600Val)	1280	COL2A1	Likely pathogenic	794727438	RCV000176730;	N	MedGen:C1835437,OMIM:151210,ORPHA:85166	12	48378812	48378812	NM_001844.4:c.1799G>T	NP_001835.3:p.Gly600Val	NC_000012.11:g.48378812C>A	-	C1835437 151210 Platyspondylic lethal skeletal dysplasia Torrance type