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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: Encephalocele (D004677)
..Starting node ..Parietal Foramina 2 (C566510)
Child Nodes:
Sister Nodes:
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant (C567185)
..DK Phocomelia Syndrome (C565618)
..Fronto-facio-nasal dysplasia (C538063)
..Knobloch syndrome (C537209)
..Knobloch Syndrome Type II (C548030)
..Knobloch Syndrome Type III (C548031)
..Laryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..Meckel syndrome type 1 (C536133)
..Meckel syndrome type 2 (C536131)
..Meckel syndrome type 3 (C536132)
..Meckel Syndrome, Type 4 (C567003)
..Meckel Syndrome, Type 5 (C566915)
..Meckel Syndrome, Type 6 (C567365)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Parietal Foramina (C566826)
..Parietal Foramina 1 (C566827)
..Parietal Foramina 2 (C566510)
..Parietal Foramina 3 (C563697)
..Parietal Foramina With Cleidocranial Dysplasia (C566825)
..Podder-Tolmie syndrome (C537518)
..Sakoda Complex (C567055)
..Zechi-Ceide Syndrome (C567865)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8646

Name:

Parietal Foramina 2

Definition:

Alternative IDs:

OMIM:609597

ParentIDs:

MESH:D004677

TreeNumbers:

C10.500.680.488/C566510 |C16.131.666.680.488/C566510 |C23.300.707.186/C566510

Synonyms:

PFM2

Slim Mappings:

Congenital abnormality|Nervous system disease|Pathology (anatomical condition)

Reference:

MedGen: C566510
MeSH: C566510
OMIM: 609597;

Genes: ALX4;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007385	Aplasia cutis congenita of scalp
3	HP:0005280	Depressed nasal bridge	HP:0040283
4	HP:0002084	Encephalocele
5	HP:0000316	Hypertelorism	HP:0040283
6	HP:0002697	Parietal foramina
7	HP:0002695	Symmetrical, oval parietal bone defects
8	HP:0012811	Wide nasal ridge	HP:0040283

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_021926.3(ALX4):c.976_985delGACCCGGTGCinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326Leufs)	60529	ALX4	Pathogenic	587777702	RCV000144038;	N	MedGen:C1865044,OMIM:609597	11	44286655	44286664	NM_021926.3:c.976_985delGACCCGGTGCinsCTAAGATCTCAACAGAGATGGCAACT	NP_068745.2:p.Asp326Leufs		OMIM Allelic Variant:605420.0012	C1865044 609597 Parietal foramina 2
NM_021926.3(ALX4):c.815G>C (p.Arg272Pro)	60529	ALX4	Pathogenic	104894196	RCV000005320;	N	MedGen:C1865044,OMIM:609597	11	44289135	44289135	NM_021926.3:c.815G>C	NP_068745.2:p.Arg272Pro	NC_000011.9:g.44289135C>G	OMIM Allelic Variant:605420.0005	C1865044 609597 Parietal foramina 2
NM_021926.3(ALX4):c.736C>T (p.Gln246Ter)	60529	ALX4	Pathogenic	104894192	RCV000005317;	N	MedGen:C1865044,OMIM:609597	11	44296939	44296939	NM_021926.3:c.736C>T	NP_068745.2:p.Gln246Ter	NC_000011.9:g.44296939G>A	OMIM Allelic Variant:605420.0002	C1865044 609597 Parietal foramina 2
NM_021926.3(ALX4):c.653G>A (p.Arg218Gln)	60529	ALX4	Pathogenic	104894193	RCV000005318;	N	MedGen:C1865044,OMIM:609597	11	44297022	44297022	NM_021926.3:c.653G>A	NP_068745.2:p.Arg218Gln	NC_000011.9:g.44297022C>T	OMIM Allelic Variant:605420.0003	C1865044 609597 Parietal foramina 2
NM_021926.3(ALX4):c.646C>G (p.Arg216Gly)	60529	ALX4	Pathogenic	587777700	RCV000144036;	N	MedGen:C1865044,OMIM:609597	11	44297029	44297029	NM_021926.3:c.646C>G	NP_068745.2:p.Arg216Gly	NC_000011.9:g.44297029G>C	OMIM Allelic Variant:605420.0013	C1865044 609597 Parietal foramina 2
NM_021926.3(ALX4):c.620C>A (p.Ser207Ter)	60529	ALX4	Pathogenic	104894197	RCV000005321;	N	MedGen:C1865044,OMIM:609597	11	44297055	44297055	NM_021926.3:c.620C>A	NP_068745.2:p.Ser207Ter	NC_000011.9:g.44297055G>T	OMIM Allelic Variant:605420.0006	C1865044 609597 Parietal foramina 2
NM_021926.3(ALX4):c.504delT (p.Asp169Thrfs)	60529	ALX4	Pathogenic	587776614	RCV000005319;	N	MedGen:C1865044,OMIM:609597	11	44297171	44297171	NM_021926.3:c.504delT	NP_068745.2:p.Asp169Thrfs	NC_000011.9:g.44297171delA	OMIM Allelic Variant:605420.0004	C1865044 609597 Parietal foramina 2
NM_021926.3(ALX4):c.418C>T (p.Gln140Ter)	60529	ALX4	Pathogenic	104894191	RCV000005316;	N	MedGen:C1865044,OMIM:609597	11	44331195	44331195	NM_021926.3:c.418C>T	NP_068745.2:p.Gln140Ter	NC_000011.9:g.44331195G>A	OMIM Allelic Variant:605420.0001	C1865044 609597 Parietal foramina 2
NM_021926.3(ALX4):c.385_394delTGCAAGACGC (p.Cys129Profs)	60529	ALX4	Pathogenic	387906325	RCV000005322;	N	MedGen:C1865044,OMIM:609597	11	44331219	44331228	NM_021926.3:c.385_394delTGCAAGACGC	NP_068745.2:p.Cys129Profs	NC_000011.9:g.44331219_44331228delGCGTCTTGCA	OMIM Allelic Variant:605420.0007	C1865044 609597 Parietal foramina 2