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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 ..Thanatophoric dysplasia, type 2 (C536508)
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:

10960

Name:

Thanatophoric dysplasia, type 2

Definition:

Alternative IDs:

OMIM:187601

ParentIDs:

MESH:D013796

TreeNumbers:

C05.116.099.343.110.500/C536508 |C05.116.099.708.017.500/C536508 |C05.660.585.984/C536508 |C16.131.621.585.984/C536508 |C16.320.240.500.500/C536508 |C16.614.890/C536508

Synonyms:

Cloverleaf skull with thanatophoric dwarfism |TD2 |Thanatophoric Dysplasia, Type Ii |Thanatophoric dysplasia with Kleeblattschaedel |Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull

Slim Mappings:

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

Reference:

MedGen: C536508
MeSH: C536508
OMIM: 187601;

Genes: FGFR3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001156	Brachydactyly
3	HP:0002676	Cloverleaf skull
4	HP:0001558	Decreased fetal movement
5	HP:0003015	Flared metaphysis
6	HP:0000946	Hypoplastic ilia
7	HP:0008909	Lethal short-limbed short stature
8	HP:0003025	Metaphyseal irregularity
9	HP:0000774	Narrow chest
10	HP:0003811	Neonatal death
11	HP:0000926	Platyspondyly
12	HP:0001561	Polyhydramnios
13	HP:0002093	Respiratory insufficiency
14	HP:0003185	Short greater sciatic notch
15	HP:0000773	Short ribs
16	HP:0006584	Small abnormally formed scapulae
17	HP:0000274	Small face
18	HP:0002677	Small foramen magnum
19	HP:0000910	Wide-cupped costochondral junctions

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_000142.4(FGFR3):c.1948A>G (p.Lys650Glu)	2261	FGFR3	Pathogenic	78311289	RCV000017728; RCV000017730; RCV000017729;	Y	MedGen:C0026764,OMIM:254500,ORPHA:29073,SNOMED CT:109989006,SNOMED CT:55921005; MedGen:C0334517,ORPHA:99865; MedGen:C1300257,OMIM:187601,SNOMED CT:389158007	4	1807889	1807889	NM_000142.4:c.1948A>G	NP_000133.1:p.Lys650Glu	NC_000004.11:g.1807889A>C,NC_000004.11:g.1807889A>G	OMIM Allelic Variant:134934.0004	C0026764 254500 Multiple myeloma; C0334517 Spermatocytic seminoma; C1300257 187601 Thanatophoric dysplasia, type 2