Disease Browser
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Parent Node: Microphthalmos (D008850) | ..Starting node ..MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
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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: | 7226 |
Name: | MICROPHTHALMIA, ISOLATED 7 |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D008850 |
TreeNumbers: | C11.250.566/613704 |C16.131.384.666/613704 |
Synonyms: | MCOP7 |
Slim Mappings: | Congenital abnormality|Eye disease |
Reference: |
MedGen: 613704
MeSH: 613704
OMIM: 613704;
Genes: GDF3; | 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.914T>C (p.Leu305Pro) | 9573 | GDF3 | Pathogenic | 387906945 | RCV000033195; RCV000023557; | N | MedGen:C0009363,OMIM:120200,ORPHA:194,SNOMED CT:92828000,SNOMED CT:93390002; MedGen:C3150969,OMIM:613704 | 12 | 7842655 | 7842655 | NM_020634.1:c.914T>C | NP_065685.1:p.Leu305Pro | NC_000012.11:g.7842655A>G | OMIM Allelic Variant:606522.0002 | C0009363 120200 Congenital ocular coloboma; C3150969 613704 Microphthalmia, isolated 7 | | | NM_020634.1(GDF3):c.584G>A (p.Arg195Gln) | 9573 | GDF3 | Pathogenic | 146973734 | RCV000023558; | N | MedGen:C3150969,OMIM:613704 | 12 | 7842985 | 7842985 | NM_020634.1:c.584G>A | NP_065685.1:p.Arg195Gln | NC_000012.11:g.7842985C>T | OMIM Allelic Variant:606522.0003 | C3150969 613704 Microphthalmia, isolated 7 | | |
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