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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: Clubfoot (D003025)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Pierre Robin Syndrome (D010855)
..Starting node ..TARP syndrome (C536942)
Child Nodes:
Sister Nodes:
..Catel Manzke syndrome (C535347)
..Chitayat Meunier Hodgkinson syndrome (C535926)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Femoral facial syndrome (C537916)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Pierre Robin Sequence with Facial and Digital Anomalies (C564078)
..Pierre Robin sequence with pectus excavatum and rib and scapular anomalies (C535775)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Radial defect Robin sequence (C536261)
..Richieri Costa Pereira syndrome (C535677)
..Robin sequence and oligodactyly (C535688)
..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
..Sanderson Fraser syndrome (C537232)
..Stevenson-Carey Syndrome (C567446)
..Stoll Alembik Dott syndrome (C537497)
..TARP syndrome (C536942)
..Thrombocytopenia Robin sequence (C536898)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10873

Name:

TARP syndrome

Definition:

Alternative IDs:

OMIM:311900

ParentIDs:

MESH:D003025|MESH:D006330|MESH:D010855

TreeNumbers:

C05.330.495.150/C536942 |C05.500.460.606/C536942 |C05.660.207.540.460.606/C536942 |C05.660.585.512.380.500/C536942 |C07.320.440.606/C536942 |C07.650.500.460.606/C536942 |C14.240.400/C536942 |C14.280.400/C536942 |C16.131.240.400/C536942 |C16.131.621.207.540.460.60

Synonyms:

Pierre Robin syndrome with congenital heart malformation and clubfoot |Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava |TARPS

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C536942
MeSH: C536942
OMIM: 311900;

Genes: RBM10;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0001419	X-linked recessive inheritance
3	HP:0001273	Abnormal corpus callosum morphology
4	HP:0030680	Abnormality of cardiovascular system morphology
5	HP:0000463	Anteverted nares
6	HP:0001321	Cerebellar hypoplasia
7	HP:0001320	Cerebellar vermis hypoplasia
8	HP:0000175	Cleft palate
9	HP:0030084	Clinodactyly
10	HP:0012725	Cutaneous syndactyly
11	HP:0006191	Deep palmar crease
12	HP:0001508	Failure to thrive
13	HP:0001290	Generalized hypotonia
14	HP:0001263	Global developmental delay
15	HP:0000162	Glossoptosis
16	HP:0000218	High palate
17	HP:0000085	Horseshoe kidney
18	HP:0000126	Hydronephrosis
19	HP:0002984	Hypoplasia of the radius
20	HP:0001511	Intrauterine growth retardation
21	HP:0000239	Large fontanelles
22	HP:0000369	Low-set ears
23	HP:0000347	Micrognathia
24	HP:0008551	Microtia
25	HP:0000648	Optic atrophy	HP:0040283
26	HP:0000767	Pectus excavatum	HP:0040283
27	HP:0100259	Postaxial polydactyly	HP:0040283
28	HP:0000358	Posteriorly rotated ears
29	HP:0000395	Prominent antihelix
30	HP:0012745	Short palpebral fissure
31	HP:0000879	Short sternum	HP:0040283
32	HP:0000954	Single transverse palmar crease
33	HP:0001762	Talipes equinovarus
34	HP:0001636	Tetralogy of Fallot	HP:0040283
35	HP:0000199	Tongue nodules	HP:0040283
36	HP:0009891	Underdeveloped supraorbital ridges
37	HP:0000431	Wide nasal bridge

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_005676.4(RBM10):c.1235G>A (p.Trp412Ter)	8241	RBM10	Pathogenic	267607000	RCV000012410;	N	MedGen:C1839463,OMIM:311900,ORPHA:2886	X	47039892	47039892	NM_005676.4:c.1235G>A	NP_005667.2:p.Trp412Ter	NC_000023.10:g.47039892G>A	OMIM Allelic Variant:300080.0002	C1839463 311900 TARP syndrome