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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: Eye Abnormalities (D005124)
Parent Node: Glaucoma (D005901)
Parent Node: Iris Diseases (D007499)
..Starting node ..Iridogoniodysgenesis type1 (C535535)
Child Nodes:
Sister Nodes:
..Aniridia (D015783) 10
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Exfoliation Syndrome (D017889)
..Heterochromia iridis (C538115)
..Iridocorneal Endothelial Syndrome (D057129)
..Iridocyclitis (D015863)
..Iridogoniodysgenesis type1 (C535535)
..Iridogoniodysgenesis, dominant type (C535536)
..Iris Neoplasms (D015811)
..Iritis (D007500)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5904

Name:

Iridogoniodysgenesis type1

Definition:

Alternative IDs:

OMIM:601631

ParentIDs:

MESH:D005124|MESH:D005901|MESH:D007499

TreeNumbers:

C11.250/C535535 |C11.525.381/C535535 |C11.941.375/C535535 |C16.131.384/C535535

Synonyms:

GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL, INCLUDED |IRID1 |Iridogoniodysgenesis anomaly, Autosomal dominant |IRIDOGONIODYSGENESIS ANOMALY, AUTOSOMAL DOMINANT;IGDA IRIS HYPOPLASIA WITH GLAUCOMA, INCLUDED |Iridogoniodysgenesis, Type 1

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: C535535
MeSH: C535535
OMIM: 601631;

Genes: FOXC1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007905	Abnormal iris vasculature
3	HP:0001492	Axenfeld anomaly
4	HP:0001320	Cerebellar vermis hypoplasia	HP:0040283
5	HP:0009918	Ectopia pupillae
6	HP:0002280	Enlarged cisterna magna	HP:0040283
7	HP:0000501	Glaucoma
8	HP:0007990	Hypoplastic iris stroma
9	HP:0000659	Peters anomaly
10	HP:0000627	Posterior embryotoxon
11	HP:0000558	Rieger anomaly

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_001453.2(FOXC1):c.889C>T (p.Pro297Ser)	2296	FOXC1	Benign;Pathogenic	79691946	RCV000023070; RCV000162086; RCV000153259;	N	MedGen:C1866560,OMIM:601631; MedGen:CN169374; MedGen:CN221809	6	1611569	1611569	NM_001453.2:c.889C>T	NP_001444.2:p.Pro297Ser	NC_000006.11:g.1611569C>T	OMIM Allelic Variant:601090.0012	C1866560 601631 Iridogoniodysgenesis type1; CN221809 not provided; CN169374 not specified