Disease Browser
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Parent Node: Microphthalmos (D008850) | ..Starting node ..Nanophthalmos 2 (C563700)
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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: | 7766 |
Name: | Nanophthalmos 2 |
Definition: | |
Alternative IDs: | OMIM:609549 |
ParentIDs: | MESH:D008850 |
TreeNumbers: | C11.250.566/C563700 |C16.131.384.666/C563700 |
Synonyms: | Nanophthalmia 2 |Nanophthalmos, Autosomal Recessive |NNO2 |
Slim Mappings: | Congenital abnormality|Eye disease |
Reference: |
MedGen: C563700
MeSH: C563700
OMIM: 609549;
Genes: MFRP; | 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_031433.3(MFRP):c.1150dupC (p.His384Profs) | -1 | - | Pathogenic | 587776595 | RCV000004731; RCV000161910; | N | MedGen:C1836006,OMIM:609549; MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119213688 | 119213688 | NM_031433.3:c.1150dupC | NP_113621.1:p.His384Profs | | OMIM Allelic Variant:606227.0001 | C1970236 611040 Microphthalmia, isolated 5; C1836006 609549 Nanophthalmos 2 | | | NM_031433.3(MFRP):c.545T>C (p.Ile182Thr) | -1 | - | Pathogenic | 121908190 | RCV000004734; | N | MedGen:C1836006,OMIM:609549 | 11 | 119216226 | 119216226 | NM_031433.3:c.545T>C | NP_113621.1:p.Ile182Thr | NC_000011.9:g.119216226A>G | OMIM Allelic Variant:606227.0004 | C1836006 609549 Nanophthalmos 2 | | | NM_031433.3(MFRP):c.523C>T (p.Gln175Ter) | -1 | - | Pathogenic | 121908189 | RCV000004732; | N | MedGen:C1836006,OMIM:609549 | 11 | 119216248 | 119216248 | NM_031433.3:c.523C>T | NP_113621.1:p.Gln175Ter | NC_000011.9:g.119216248G>A | OMIM Allelic Variant:606227.0002 | C1836006 609549 Nanophthalmos 2 | | | NM_031433.3(MFRP):c.498delC (p.Asn167Thrfs) | -1 | - | Pathogenic | 587776596 | RCV000004733; RCV000161911; | N | MedGen:C1836006,OMIM:609549; MedGen:C1970236,OMIM:611040,ORPHA:251279 | 11 | 119216273 | 119216273 | NM_031433.3:c.498delC | NP_113621.1:p.Asn167Thrfs | NC_000011.9:g.119216273delG | OMIM Allelic Variant:606227.0003 | C1970236 611040 Microphthalmia, isolated 5; C1836006 609549 Nanophthalmos 2 | | |
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