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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Thrombocytopenia (D013921)
Parent Node: Upper Extremity Deformities, Congenital (D038062)
..Starting node ..Absent radii and thrombocytopenia (C536940)
Child Nodes:
Sister Nodes:
..Absent radii and thrombocytopenia (C536940)
..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
..Fryns Hofkens Fabry syndrome (C538069)
..Hand Deformities, Congenital (D006228) 134
..Holt-Oram syndrome (C535326)
..Hypomelia mullerian duct anomalies (C537155)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Radio renal syndrome (C536267)
..Tamari Goodman syndrome (C536896)
..Terminal Transverse Defects of Arm (C565681)
..Ulnar hypoplasia lobster claw deformity of feet (C536936)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

107

Name:

Absent radii and thrombocytopenia

Definition:

Alternative IDs:

OMIM:274000

ParentIDs:

MESH:D013921|MESH:D038062

TreeNumbers:

C05.660.585.988/C536940 |C15.378.140.855/C536940 |C16.131.621.585.988/C536940

Synonyms:

Slim Mappings:

Blood disease|Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C536940
MeSH: C536940
OMIM: 274000;

Genes: RBM8A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003043	Abnormal shoulder morphology	HP:0040283
3	HP:0001181	Adducted thumb	HP:0040282
4	HP:0001903	Anemia	HP:0040282
5	HP:0000463	Anteverted nares
6	HP:0000151	Aplasia of the uterus	HP:0040283
7	HP:0006507	Aplasia/hypoplasia of the humerus	HP:0040284
8	HP:0006495	Aplasia/Hypoplasia of the ulna	HP:0040281
9	HP:0001631	Atrial septal defect
10	HP:0004717	Axial malrotation of the kidney	HP:0040283
11	HP:0004977	Bilateral radial aplasia	HP:0040284
12	HP:0000248	Brachycephaly
13	HP:0011304	Broad thumb	HP:0040282
14	HP:0001498	Carpal bone hypoplasia	HP:0040283
15	HP:0009702	Carpal synostosis
16	HP:0002389	Cavum septum pellucidum	HP:0040283
17	HP:0001321	Cerebellar hypoplasia	HP:0040283
18	HP:0000891	Cervical ribs	HP:0040283
19	HP:0004209	Clinodactyly of the 5th finger	HP:0040282
20	HP:0001680	Coarctation of aorta	HP:0040283
21	HP:0100327	Cow milk allergy	HP:0040282
22	HP:0002673	Coxa valga	HP:0040282
23	HP:0001522	Death in infancy	HP:0040284
24	HP:0004313	Decreased circulating antibody level
25	HP:0002188	Delayed CNS myelination	HP:0040283
26	HP:0012098	Edema of the dorsum of feet	HP:0040283
27	HP:0007514	Edema of the dorsum of hands	HP:0040283
28	HP:0001880	Eosinophilia	HP:0040282
29	HP:0002990	Fibular aplasia	HP:0040283
30	HP:0006101	Finger syndactyly	HP:0040283
31	HP:0002949	Fused cervical vertebrae	HP:0040283
32	HP:0002970	Genu varum	HP:0040282
33	HP:0001263	Global developmental delay	HP:0040283
34	HP:0001433	Hepatosplenomegaly	HP:0040283
35	HP:0002827	Hip dislocation	HP:0040282
36	HP:0000085	Horseshoe kidney
37	HP:0001249	Intellectual disability
38	HP:0000895	Lateral clavicle hook	HP:0040283
39	HP:0000272	Malar flattening	HP:0040283
40	HP:0002245	Meckel diverticulum
41	HP:0000347	Micrognathia
42	HP:0001270	Motor delay
43	HP:0007413	Nevus flammeus of the forehead	HP:0040283
44	HP:0001737	Pancreatic cysts
45	HP:0006443	Patellar aplasia	HP:0040282
46	HP:0002999	Patellar dislocation	HP:0040283
47	HP:0009829	Phocomelia	HP:0040283
48	HP:0000508	Ptosis	HP:0040283
49	HP:0001051	Seborrheic dermatitis
50	HP:0001250	Seizure
51	HP:0009803	Short phalanx of finger	HP:0040283
52	HP:0004322	Short stature	HP:0040284
53	HP:0008952	Shoulder muscle hypoplasia
54	HP:0002414	Spina bifida
55	HP:0000486	Strabismus	HP:0040283
56	HP:0001762	Talipes equinovarus	HP:0040283
57	HP:0001636	Tetralogy of Fallot	HP:0040283
58	HP:0001873	Thrombocytopenia	HP:0040284
59	HP:0100694	Tibial torsion	HP:0040283
60	HP:0001629	Ventricular septal defect	HP:0040284

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
NC_000001.10:g.(?_145413072)_(145592772_145596903)del	-1	more than 10	Pathogenic	-1	RCV000033867;	N	MedGen:C0175703,OMIM:274000,ORPHA:3320,SNOMED CT:85589009	1	145413072	145596903	-	-		-	C0175703 274000 Radial aplasia-thrombocytopenia syndrome
NM_005105.4(RBM8A):c.-21G>A	9939	RBM8A	Pathogenic	139428292	RCV000023418; RCV000081257;	N	MedGen:C0175703,OMIM:274000,ORPHA:3320,SNOMED CT:85589009; MedGen:CN221809	1	145507646	145507646	NM_005105.4:c.-21G>A		NC_000001.10:g.145507646G>A	HGMD:CR123025,OMIM Allelic Variant:605313.0001	CN221809 not provided; C0175703 274000 Radial aplasia-thrombocytopenia syndrome
NM_005105.4(RBM8A):c.67+32G>C	9939	RBM8A	Likely pathogenic;Pathogenic	201779890	RCV000023419; RCV000172898;	N	MedGen:C0175703,OMIM:274000,ORPHA:3320,SNOMED CT:85589009; MedGen:CN221809	1	145507765	145507765	NM_005105.4:c.67+32G>C		NC_000001.10:g.145507765G>C	OMIM Allelic Variant:605313.0002	CN221809 not provided; C0175703 274000 Radial aplasia-thrombocytopenia syndrome
NM_005105.4(RBM8A):c.207_208insAGCG (p.Val70Serfs)	9939	RBM8A	Pathogenic	397515388	RCV000023420;	N	MedGen:C0175703,OMIM:274000,ORPHA:3320,SNOMED CT:85589009	1	145508476	145508477	NM_005105.4:c.207_208insAGCG	NP_005096.1:p.Val70Serfs	NC_000001.10:g.145508476_145508477insAGCG	OMIM Allelic Variant:605313.0003	C0175703 274000 Radial aplasia-thrombocytopenia syndrome
NM_005105.4(RBM8A):c.487C>T (p.Arg163Ter)	9939	RBM8A	Pathogenic	397515389	RCV000023421;	N	MedGen:C0175703,OMIM:274000,ORPHA:3320,SNOMED CT:85589009	1	145509173	145509173	NM_005105.4:c.487C>T	NP_005096.1:p.Arg163Ter	NC_000001.10:g.145509173C>T	OMIM Allelic Variant:605313.0004	C0175703 274000 Radial aplasia-thrombocytopenia syndrome