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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

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Disease Browser
Parent Node: Ellis-Van Creveld Syndrome (D004613)
..Starting node ..Asphyxiating Thoracic Dystrophy 2 (C566982)
Child Nodes:
Sister Nodes:
..Asphyxiating Thoracic Dystrophy 2 (C566982)
..Asphyxiating Thoracic Dystrophy 3 (C567761) 1
..Jeune syndrome (C537571)
..Jeune syndrome situs inversus (C537572)
..Mesoectodermal dysplasia (C538472)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

949

Name:

Asphyxiating Thoracic Dystrophy 2

Definition:

Alternative IDs:

OMIM:611263

ParentIDs:

MESH:D004613

TreeNumbers:

C05.116.099.708.327/C566982 |C16.131.077.350.398/C566982 |C16.131.831.350.398/C566982 |C16.320.850.250.398/C566982 |C17.800.804.350.398/C566982 |C17.800.827.250.398/C566982

Synonyms:

ASPHYXIATING THORACIC DYSTROPHY 2 |ATD2 |SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY |SRTD2

Slim Mappings:

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

Reference:

MedGen: C566982
MeSH: C566982
OMIM: 611263;

Genes: IFT80;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001156	Brachydactyly
3	HP:0001169	Broad palm
4	HP:0003027	Mesomelia
5	HP:0000774	Narrow chest
6	HP:0001162	Postaxial hand polydactyly
7	HP:0008905	Rhizomelia
8	HP:0001773	Short foot
9	HP:0010049	Short metacarpal

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_020800.2(IFT80):c.2101G>C (p.Ala701Pro)	-1	-	Pathogenic	137853116	RCV000001046;	N	MedGen:C1970005,OMIM:611263	3	159986323	159986323	NM_020800.2:c.2101G>C	NP_065851.1:p.Ala701Pro	NC_000003.11:g.159986323C>G	OMIM Allelic Variant:611177.0003	C1970005 611263 Asphyxiating thoracic dystrophy 2
NM_020800.2(IFT80):c.1645_1647delTTA (p.Leu549del)	-1	-	Pathogenic	431905497	RCV000001045;	N	MedGen:C1970005,OMIM:611263	3	159998472	159998474	NM_020800.2:c.1645_1647delTTA	NP_065851.1:p.Leu549del	NC_000003.11:g.159998472_159998474delTAA	OMIM Allelic Variant:611177.0002	C1970005 611263 Asphyxiating thoracic dystrophy 2
NM_020800.2(IFT80):c.869A>G (p.Asn290Ser)	57560	IFT80	Likely pathogenic	138081429	RCV000184040;	N	MedGen:C1970005,OMIM:611263	3	160037636	160037636	NM_020800.2:c.869A>G	NP_065851.1:p.Asn290Ser	NC_000003.11:g.160037636T>C	-	C1970005 611263 Asphyxiating thoracic dystrophy 2
NM_020800.2(IFT80):c.721G>A (p.Gly241Arg)	57560	IFT80	Pathogenic	138004478	RCV000087065;	N	MedGen:C1970005,OMIM:611263	3	160073857	160073857	NM_020800.2:c.721G>A	NP_065851.1:p.Gly241Arg	NC_000003.11:g.160073857C>T	OMIM Allelic Variant:611177.0004	C1970005 611263 Asphyxiating thoracic dystrophy 2
NM_020800.2(IFT80):c.315C>G (p.His105Gln)	57560	IFT80	Pathogenic	137853115	RCV000001044;	N	MedGen:C1970005,OMIM:611263	3	160095273	160095273	NM_020800.2:c.315C>G	NP_065851.1:p.His105Gln	NC_000003.11:g.160095273G>C	OMIM Allelic Variant:611177.0001	C1970005 611263 Asphyxiating thoracic dystrophy 2