Disease Browser
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Parent Node: Bone Diseases (D001847) | Parent Node: Hypertelorism (D006972) | Parent Node: Intellectual Disability (D008607) | Parent Node: Myopia (D009216) | ..Starting node ..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
| Child Nodes:
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Sister Nodes: | ..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
| ..Blepharoptosis myopia ectopia lentis (C536236)
| ..Bornholm Eye Disease (C564092)
| ..Cohen syndrome (C536438)
| ..Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)
| ..Deafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
| ..Donnai-Barrow syndrome (C536390)
| ..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
| ..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
| ..Gastrocutaneous syndrome (C535651)
| ..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
| ..MASS syndrome (C536030)
| ..Microphthalmia, Isolated, With Corectopia (C563581)
| ..Mousa Al din Al Nassar syndrome (C536989)
| ..Myopia 1 (C564091)
| ..Myopia 10 (C563758)
| ..Myopia 11 (C566490)
| ..Myopia 12 (C566489)
| ..Myopia 13 (C564473)
| ..Myopia 14 (C565202)
| ..Myopia 15 (C567193)
| ..Myopia 16 (C567259)
| ..Myopia 18, Autosomal Recessive (C567606)
| ..MYOPIA 19, AUTOSOMAL DOMINANT (OMIM:613969)
| ..Myopia 2 (C563541)
| ..MYOPIA 20, AUTOSOMAL DOMINANT (OMIM:614166)
| ..Myopia 3 (C566397)
| ..Myopia 5 (C563922)
| ..Myopia 6 (C536105)
| ..Myopia 7 (C563761)
| ..Myopia 8 (C563760)
| ..Myopia 9 (C563759)
| ..Myopia, Degenerative (D047728)
| ..Night blindness skeletal anomalies unusual facies (C536121)
| ..Night blindness, congenital stationary (C536122) 4
| ..Noble Bass Sherman syndrome (C536124)
| ..Ophthalmoplegia, External, and Myopia (C564087)
| ..Polydactyly myopia syndrome (C536331)
| ..Sinus Node Disease and Myopia (C566690)
| ..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
| ..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 5484 |
Name: | Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D001847|MESH:D006972|MESH:D008607|MESH:D009216 |
TreeNumbers: | C05.116.099.370.231.480/C566988 |C05.116/C566988 |C05.660.207.231.480/C566988 |C10.597.606.643/C566988 |C11.744.636/C566988 |C16.131.621.207.231.480/C566988 |C23.888.592.604.646/C566988 |F03.550.600/C566988 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C566988
MeSH: C566988
OMIM: 611174;
Genes: IRX5; | 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_005853.5(IRX5):c.448G>C (p.Ala150Pro) | 10265 | IRX5 | Pathogenic | 387907198 | RCV000024602; | N | MedGen:C1970027,OMIM:611174,ORPHA:314555 | 16 | 54966608 | 54966608 | NM_005853.5:c.448G>C | NP_005844.4:p.Ala150Pro | NC_000016.9:g.54966608G>C | OMIM Allelic Variant:606195.0002 | C1970027 611174 Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility | | | NM_005853.5(IRX5):c.498C>A (p.Asn166Lys) | 10265 | IRX5 | Pathogenic | 786200931 | RCV000024601; | N | MedGen:C1970027,OMIM:611174,ORPHA:314555 | 16 | 54966658 | 54966658 | NM_005853.5:c.498C>A | NP_005844.4:p.Asn166Lys | NC_000016.9:g.54966658C>A | OMIM Allelic Variant:606195.0001 | C1970027 611174 Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility | | |
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