Disease Browser
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Parent Node: Coloboma (D003103) | Parent Node: Microphthalmos (D008850) | ..Starting node ..MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
| Child Nodes:
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Sister Nodes: | ..Adams Nance syndrome (C538224)
| ..Anophthalmia with pulmonary hypoplasia (C537768)
| ..Arhinia, choanal atresia, and microphthalmia (C537429)
| ..Aughton syndrome (C538269)
| ..Behrens Baumann Dust syndrome (C537670)
| ..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
| ..Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
| ..Duker Weiss Siber syndrome (C535719)
| ..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
| ..Ghose Sachdev Kumar syndrome (C537803)
| ..GOMBO syndrome (C537284)
| ..Hittner Hirsch Kreh syndrome (C538323)
| ..Holoprosencephaly 10 (C567278)
| ..Kaplowitz Bodurtha syndrome (C536893)
| ..Macrosomia with lethal microphthalmia (C537830)
| ..Microcephaly microphthalmos blindness (C537541)
| ..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
| ..Microcornea corectopia macular hypoplasia (C537551)
| ..Microgastria limb reduction defect (C537554)
| ..Microphthalmia and mental deficiency (C537462)
| ..Microphthalmia associated with colobomatous cyst (C537463)
| ..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
| ..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
| ..Microphthalmia, Cataracts, and Iris Abnormalities (C566448)
| ..Microphthalmia, Isolated 1 (C565377)
| ..Microphthalmia, Isolated 2 (C566446)
| ..Microphthalmia, Isolated 3 (C567025)
| ..Microphthalmia, Isolated 4 (C567757)
| ..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
| ..MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
| ..MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
| ..Microphthalmia, Isolated, with Cataract 1 (C563582)
| ..Microphthalmia, Isolated, with Cataract 2 (C565876)
| ..Microphthalmia, Isolated, with Cataract 3 (C564452)
| ..Microphthalmia, Isolated, with Cataract 4 (C566480)
| ..Microphthalmia, Isolated, with Coloboma 1 (C564531)
| ..Microphthalmia, Isolated, with Coloboma 2 (C565300)
| ..Microphthalmia, Isolated, with Coloboma 3 (C566447)
| ..Microphthalmia, Isolated, with Coloboma 4 (C565378)
| ..Microphthalmia, Isolated, with Coloboma 5 (C566899)
| ..MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
| ..Microphthalmia, Isolated, With Corectopia (C563581)
| ..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
| ..Microphthalmia, syndromic 1 (C537464)
| ..Microphthalmia, Syndromic 10 (C566985)
| ..Microphthalmia, syndromic 2 (C537465)
| ..Microphthalmia, Syndromic 3 (C565948)
| ..Microphthalmia, Syndromic 4 (C564457)
| ..Microphthalmia, Syndromic 5 (C566441)
| ..Microphthalmia, Syndromic 6 (C566440)
| ..Microphthalmia, syndromic 7 (C537466)
| ..Nanophthalmos 1 (C563983)
| ..Nanophthalmos 2 (C563700)
| ..Nanophthalmos 3 (C567498)
| ..Oculodentoosseous dysplasia recessive (C537733)
| ..Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
| ..Thomas Jewett Raines syndrome (C536513)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 7236 |
Name: | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D003103|MESH:D008850 |
TreeNumbers: | C11.250.110/613703 |C11.250.566/613703 |C16.131.384.282/613703 |C16.131.384.666/613703 |
Synonyms: | MCOPCB6 |
Slim Mappings: | Congenital abnormality|Eye disease |
Reference: |
MedGen: 613703
MeSH: 613703
OMIM: 613703;
Genes: GDF3; GDF6; | Phenotypes | | 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_020634.1(GDF3):c.974C>T (p.Pro325Leu) | 9573 | GDF3 | Uncertain significance | 566697767 | RCV000059345; | N | MedGen:C3150968,OMIM:613703 | 12 | 7842595 | 7842595 | NM_020634.1:c.974C>T | NP_065685.1:p.Pro325Leu | NC_000012.11:g.7842595G>A | - | C3150968 613703 Microphthalmia, isolated, with coloboma 6 | | | NM_020634.1(GDF3):c.820C>T (p.Arg274Trp) | 9573 | GDF3 | Pathogenic | 387906946 | RCV000023559; | N | MedGen:C3150968,OMIM:613703 | 12 | 7842749 | 7842749 | NM_020634.1:c.820C>T | NP_065685.1:p.Arg274Trp | NC_000012.11:g.7842749G>A | OMIM Allelic Variant:606522.0004 | C3150968 613703 Microphthalmia, isolated, with coloboma 6 | | | NM_020634.1(GDF3):c.796C>T (p.Arg266Cys) | 9573 | GDF3 | Pathogenic | 140926412 | RCV000023555; RCV000023556; | N | MedGen:C3150967,OMIM:613702; MedGen:C3150968,OMIM:613703 | 12 | 7842773 | 7842773 | NM_020634.1:c.796C>T | NP_065685.1:p.Arg266Cys | NC_000012.11:g.7842773G>A | OMIM Allelic Variant:606522.0001 | C3150967 613702 Klippel-Feil syndrome 3, autosomal dominant; C3150968 613703 Microphthalmia, isolated, with coloboma 6 | | | NM_001001557.2(GDF6):c.595G>A (p.Ala199Thr) | 392255 | GDF6 | Pathogenic | 387906794 | RCV000023075; RCV000054524; | N | MedGen:C3150968,OMIM:613703; MedGen:C3715164,OMIM:615360 | 8 | 97157564 | 97157564 | NM_001001557.2:c.595G>A | NP_001001557.1:p.Ala199Thr | NC_000008.10:g.97157564C>T | OMIM Allelic Variant:601147.0007 | C3715164 615360 Leber congenital amaurosis 17; C3150968 613703 Microphthalmia, isolated, with coloboma 6 | | |
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