Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandEye Abnormalities (D005124)
Parent Node:
expandGlaucoma (D005901)
..Starting node
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)

       Child Nodes:



 Sister Nodes: 
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)
..expandAckerman syndrome (C538170)
..expandBowen syndrome (C538164)
..expandCharcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma (C535422)
..expandCharcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma (C565761)
..expandDyssegmental Dysplasia with Glaucoma (C563290)
..expandEarly-Onset Glaucoma (C580055)
..expandFriedreich ataxia congenital glaucoma (C538061)
..expandGEMSS syndrome (C537679)
..expandGhose Sachdev Kumar syndrome (C537803)
..expandGlaucoma 1, Open Angle, O (C567753)
..expandGlaucoma 3, Primary Congenital, A (C565547)
..expandGLAUCOMA 3, PRIMARY CONGENITAL, C (OMIM:613085)
..expandGlaucoma 3, Primary Congenital, D (C567765)
..expandGlaucoma 3, primary infantile, B (C536824)
..expandGlaucoma and Sleep Apnea (C564232)
..expandGlaucoma Iridogoniodysplasia, Familial (C566650)
..expandGlaucoma, Angle-Closure (D015812) Child1
..expandGlaucoma, Neovascular (D015355)
..expandGLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (OMIM:606657)
..expandGlaucoma, Open-Angle (D005902) Child18
..expandIridogoniodysgenesis type1 (C535535)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandIris hypoplasia and glaucoma (C535538)
..expandLowry Maclean syndrome (C537037)
..expandMacKay Shek Carr syndrome (C538364)
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)
..expandMicrospherophakia (C563255)
..expandPeters anomaly with cataract (C537885)
..expandRenal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation (C567038)
..expandSpastic Paresis, Glaucoma, and Mental Retardation (C564809)
..expandTetralogy of fallot and glaucoma (C536501)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7209
Name:Microcornea, glaucoma, and absent frontal sinuses
Definition:
Alternative IDs:
ParentIDs:MESH:D005124|MESH:D005901
TreeNumbers:C11.250/C537552 |C11.525.381/C537552 |C16.131.384/C537552
Synonyms:Hereditary microcornea, glaucoma, and absent frontal sinuses
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: C537552
MeSH: C537552
OMIM: 156700;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002688Absent frontal sinuses
3 HP:0000501Glaucoma
4 HP:0000482Microcornea
Disease Causing ClinVar Variants