Disease Browser
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Parent Node: Corneal Diseases (D003316) | Parent Node: Ectopia Lentis (D004479) | Parent Node: Glaucoma (D005901) | ..Starting node ..Microspherophakia (C563255)
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Sister Nodes: | ..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
| ..Ackerman syndrome (C538170)
| ..Bowen syndrome (C538164)
| ..Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma (C535422)
| ..Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma (C565761)
| ..Dyssegmental Dysplasia with Glaucoma (C563290)
| ..Early-Onset Glaucoma (C580055)
| ..Friedreich ataxia congenital glaucoma (C538061)
| ..GEMSS syndrome (C537679)
| ..Ghose Sachdev Kumar syndrome (C537803)
| ..Glaucoma 1, Open Angle, O (C567753)
| ..Glaucoma 3, Primary Congenital, A (C565547)
| ..GLAUCOMA 3, PRIMARY CONGENITAL, C (OMIM:613085)
| ..Glaucoma 3, Primary Congenital, D (C567765)
| ..Glaucoma 3, primary infantile, B (C536824)
| ..Glaucoma and Sleep Apnea (C564232)
| ..Glaucoma Iridogoniodysplasia, Familial (C566650)
| ..Glaucoma, Angle-Closure (D015812) 1
| ..Glaucoma, Neovascular (D015355)
| ..GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (OMIM:606657)
| ..Glaucoma, Open-Angle (D005902) 18
| ..Iridogoniodysgenesis type1 (C535535)
| ..Iridogoniodysgenesis, dominant type (C535536)
| ..Iris hypoplasia and glaucoma (C535538)
| ..Lowry Maclean syndrome (C537037)
| ..MacKay Shek Carr syndrome (C538364)
| ..Microcornea, glaucoma, and absent frontal sinuses (C537552)
| ..Microspherophakia (C563255)
| ..Peters anomaly with cataract (C537885)
| ..Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation (C567038)
| ..Spastic Paresis, Glaucoma, and Mental Retardation (C564809)
| ..Tetralogy of fallot and glaucoma (C536501)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 7252 |
Name: | Microspherophakia |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D003316|MESH:D004479|MESH:D005901 |
TreeNumbers: | C11.204/C563255 |C11.250.300/C563255 |C11.510.598.373/C563255 |C11.525.381/C563255 |C16.131.384.405/C563255 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Eye disease |
Reference: |
MedGen: C563255
MeSH: C563255
OMIM: 251750;
Genes: LTBP2; | 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_000428.2(LTBP2):c.4855C>T (p.Gln1619Ter) | 4053 | LTBP2 | Pathogenic | 387907174 | RCV000024327; | N | MedGen:C1562061,OMIM:251750,SNOMED CT:416671000 | 14 | 74969955 | 74969955 | NM_000428.2:c.4855C>T | NP_000419.1:p.Gln1619Ter | NC_000014.8:g.74969955G>A | OMIM Allelic Variant:602091.0010 | C1562061 251750 Microspherophakia | | | NM_000428.2(LTBP2):c.4313G>A (p.Cys1438Tyr) | 4053 | LTBP2 | Pathogenic | 387907175 | RCV000024328; | N | MedGen:C1562061,OMIM:251750,SNOMED CT:416671000 | 14 | 74971742 | 74971742 | NM_000428.2:c.4313G>A | NP_000419.1:p.Cys1438Tyr | NC_000014.8:g.74971742C>T | OMIM Allelic Variant:602091.0011 | C1562061 251750 Microspherophakia | | | NM_000428.2(LTBP2):c.895C>T (p.Arg299Ter) | 4053 | LTBP2 | Pathogenic | 121918355 | RCV000007990; RCV000024324; | N | MedGen:C1562061,OMIM:251750,SNOMED CT:416671000; MedGen:C2751316,OMIM:613086 | 14 | 75022332 | 75022332 | NM_000428.2:c.895C>T | NP_000419.1:p.Arg299Ter | NC_000014.8:g.75022332G>A | OMIM Allelic Variant:602091.0001 | C2751316 613086 Glaucoma 3, primary congenital, d; C1562061 251750 Microspherophakia | | |
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