Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Craniosynostoses (D003398)
Parent Node: Intellectual Disability (D008607)
Parent Node: Retrognathia (D063173)
..Starting node ..Scaphocephaly, Maxillary Retrusion, And Mental Retardation (C566511)
Child Nodes:
Sister Nodes:
..Kasznica Carlson Coppedge syndrome (C537011)
..PARC syndrome (C537174)
..Scaphocephaly, Maxillary Retrusion, And Mental Retardation (C566511)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10004

Name:

Scaphocephaly, Maxillary Retrusion, And Mental Retardation

Definition:

Alternative IDs:

OMIM:609579

ParentIDs:

MESH:D003398|MESH:D008607|MESH:D063173

TreeNumbers:

C05.116.099.370.894.232/C566511 |C05.500.460.827/C566511 |C05.660.207.240/C566511 |C05.660.207.540.460.827/C566511 |C05.660.207.707.249/C566511 |C05.660.906.364/C566511 |C07.320.440.827/C566511 |C07.320.610.827/C566511 |C07.650.500.460.827/C566511 |C10.597.606.64

Synonyms:

Slim Mappings:

Reference:

MedGen: C566511
MeSH: C566511
OMIM: 609579;

Genes: FGFR2;

Phenotypes

1	HP:0000268	Dolichocephaly
2	HP:0001249	Intellectual disability

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_000141.4(FGFR2):c.1576A>G (p.Lys526Glu)	2263	FGFR2	Pathogenic	121918507	RCV000014220; RCV000014221;	N	MedGen:C0010273,OMIM:123500,SNOMED CT:28861008; MedGen:C1865070,OMIM:609579,ORPHA:168624	10	123258105	123258105	NM_000141.4:c.1576A>G	NP_000132.3:p.Lys526Glu	NC_000010.10:g.123258105T>C	OMIM Allelic Variant:176943.0034	C0010273 123500 Crouzon syndrome; C1865070 609579 Scaphocephaly, maxillary retrusion, and mental retardation