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

Disease Browser
Parent Node: Kyphosis (D007738)
..Starting node ..Vertebral Hypoplasia With Lumbar Kyphosis (C566002)
Child Nodes:
Sister Nodes:
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Cervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..Coffin syndrome 1 (C536435)
..Daish Hardman Lamont syndrome (C535770)
..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..Kahrizi Syndrome (C567196)
..Kyphoscoliosis 1 (C565711)
..McDonough syndrome (C538158)
..Parastremmatic dwarfism (C537172)
..Scheuermann Disease (D012544)
..Vertebral Hypoplasia With Lumbar Kyphosis (C566002)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11585

Name:

Vertebral Hypoplasia With Lumbar Kyphosis

Definition:

Alternative IDs:

ParentIDs:

MESH:D007738

TreeNumbers:

C05.116.900.800.500/C566002

Synonyms:

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: C566002
MeSH: C566002
OMIM: 192900;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0008454	Lumbar kyphosis
3	HP:0008417	Vertebral hypoplasia

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_004333.4(BRAF):c.1781A>G (p.Asp594Gly)	673	BRAF	Pathogenic	121913338	RCV000015006; RCV000037932;	N	MedGen:C0007131,SNOMED CT:254637007; MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004	7	140453154	140453154	NM_004333.4:c.1781A>G	NP_004324.2:p.Asp594Gly	NC_000007.13:g.140453154T>C	OMIM Allelic Variant:164757.0011	C0024305 605027 Malignant lymphoma, non-Hodgkin; C0007131 Non-small cell lung cancer; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_004333.4(BRAF):c.1406G>C (p.Gly469Ala)	673	BRAF	Pathogenic	121913355	RCV000015005; RCV000150210;	N	MedGen:C0007131,SNOMED CT:254637007; MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004	7	140481402	140481402	NM_004333.4:c.1406G>C	NP_004324.2:p.Gly469Ala	NC_000007.13:g.140481402C>A,NC_000007.13:g.140481402C>G,NC_000007.13:g.140481402	OMIM Allelic Variant:164757.0010	C0024305 605027 Malignant lymphoma, non-Hodgkin; C0007131 Non-small cell lung cancer; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_004333.4(BRAF):c.1405G>C (p.Gly469Arg)	673	BRAF	Pathogenic	121913357	RCV000015004; RCV000033306;	N	MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004; MedGen:CN221809	7	140481403	140481403	NM_004333.4:c.1405G>C	NP_004324.2:p.Gly469Arg	NC_000007.13:g.140481403C>A,NC_000007.13:g.140481403C>G,NC_000007.13:g.140481403	OMIM Allelic Variant:164757.0009	C0024305 605027 Malignant lymphoma, non-Hodgkin; CN221809 not provided; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_032977.3(CASP10):c.769C>T (p.Gln257Ter)	843	CASP10	Pathogenic	121909775	RCV000008207; RCV000008208;	N	MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004; MedGen:C0038356,OMIM:613659,SNOMED CT:126824007	2	202070652	202070652	NM_032977.3:c.769C>T	NP_116759.2:p.Gln257Ter	NC_000002.11:g.202070652C>T	OMIM Allelic Variant:601762.0004	C0024305 605027 Malignant lymphoma, non-Hodgkin; C0038356 613659 Neoplasm of stomach; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_032977.3(CASP10):c.1042_1043insA (p.Gly348Glufs)	843	CASP10	Pathogenic	398122800	RCV000008209;	N	MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004	2	202073912	202073913	NM_032977.3:c.1042_1043insA	NP_116759.2:p.Gly348Glufs	NC_000002.11:g.202073912_202073913insA	OMIM Allelic Variant:601762.0005	C0024305 605027 Malignant lymphoma, non-Hodgkin; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_032977.3(CASP10):c.1241C>T (p.Ala414Val)	843	CASP10	Pathogenic	28936699	RCV000008206;	N	MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004	2	202074111	202074111	NM_032977.3:c.1241C>T	NP_116759.2:p.Ala414Val	NC_000002.11:g.202074111C>T	OMIM Allelic Variant:601762.0003	C0024305 605027 Malignant lymphoma, non-Hodgkin; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_001083116.1(PRF1):c.1122G>A (p.Trp374Ter)	5551	PRF1	Pathogenic	104894176	RCV000014709; RCV000014708;	N	MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004; MedGen:C1863727,OMIM:603553	10	72358355	72358355	NM_001083116.1:c.1122G>A	NP_001076585.1:p.Trp374Ter	NC_000010.10:g.72358355C>T	OMIM Allelic Variant:170280.0002	C1863727 603553 Hemophagocytic lymphohistiocytosis, familial, 2; C0024305 605027 Malignant lymphoma, non-Hodgkin; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_001083116.1(PRF1):c.755A>G (p.Asn252Ser)	5551	PRF1	Pathogenic	28933375	RCV000014717; RCV000014716;	N	MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004; MedGen:C1863727,OMIM:603553	10	72358722	72358722	NM_001083116.1:c.755A>G	NP_001076585.1:p.Asn252Ser	NC_000010.10:g.72358722T>C	OMIM Allelic Variant:170280.0009	C1863727 603553 Hemophagocytic lymphohistiocytosis, familial, 2; C0024305 605027 Malignant lymphoma, non-Hodgkin; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_012415.3(RAD54B):c.1778A>G (p.Asn593Ser)	25788	RAD54B	Pathogenic	114216685	RCV000005992;	N	MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004	8	95403868	95403868	NM_012415.3:c.1778A>G	NP_036547.1:p.Asn593Ser	NC_000008.10:g.95403868T>C	OMIM Allelic Variant:604289.0001	C0024305 605027 Malignant lymphoma, non-Hodgkin; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_001142548.1(RAD54L):c.1331T>A (p.Val444Glu)	8438	RAD54L	Pathogenic	121908689	RCV000006569;	N	MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004	1	46738430	46738430	NM_001142548.1:c.1331T>A	NP_001136020.1:p.Val444Glu	NC_000001.10:g.46738430T>A	OMIM Allelic Variant:603615.0002	C0024305 605027 Malignant lymphoma, non-Hodgkin; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis
NM_000546.5(TP53):c.974G>T (p.Gly325Val)	7157	TP53	Pathogenic;Uncertain significance	121912659	RCV000013166; RCV000013165; RCV000131411;	N	MedGen:C0024305,OMIM:605027,ORPHA:547,SNOMED CT:1929004; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN029768	17	7576872	7576872	NM_000546.5:c.974G>T	NP_000537.3:p.Gly325Val	NC_000017.10:g.7576872C>A	OMIM Allelic Variant:191170.0021	CN029768 Familial colorectal cancer; C0027672 Hereditary cancer-predisposing syndrome; C0024305 605027 Malignant lymphoma, non-Hodgkin; C1860463 192900 Vertebral hypoplasia with lumbar kyphosis