| Disease Browser
|
Parent Node:
 Eye Abnormalities (D005124) | Parent Node:
Facies (D019066) | Parent Node:
Hearing Loss, Sensorineural (D006319) | Parent Node:
Hydrocephalus (D006849) | Parent Node:
Hypertelorism (D006972) | Parent Node:
Joint Instability (D007593) | Parent Node:
Muscle Hypotonia (D009123) | ..Starting node
.. Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
|
Child Nodes:
|
Sister Nodes: | ..Allan-Herndon-Dudley syndrome (C537047)
| ..Atonic-Astatic Syndrome of Foerster (C565926)
| ..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
| ..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
| ..Carnitine Acetyltransferase Deficiency (C563249)
| ..Cohen syndrome (C536438)
| ..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
| ..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
| ..Der Kaloustian Mcintosh Silver syndrome (C538217)
| ..Emanuel syndrome (C535733)
| ..Ethanolaminosis (C562651)
| ..Fumaric aciduria (C538191)
| ..German Syndrome (C562543)
| ..Grubben de Cock Borghgraef syndrome (C537621)
| ..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
| ..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
| ..Hypotonia, Seizures, And Precocious Puberty (C567566)
| ..Hypotonia-Cystinuria Syndrome (C564710)
| ..Joubert Syndrome 10 (C567582)
| ..Joubert syndrome 3 (C536295)
| ..Joubert syndrome 5 (C537688)
| ..Ketoadipicaciduria (C565453)
| ..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
| ..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
| ..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
| ..Opitz-Kaveggia syndrome (C537923)
| ..Qazi Markouizos syndrome (C536259)
| ..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
| ..Scalp ear nipple syndrome (C536623)
| ..Three M Syndrome 2 (C567862)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 1106 |
| Name: | Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D005124|MESH:D006319|MESH:D006849|MESH:D006972|MESH:D007593|MESH:D009123|MESH:D019066 |
| TreeNumbers: | C05.116.099.370.231.480/C566234 |C05.550.521/C566234 |C05.660.207.231.480/C566234 |C09.218.458.341.887/C566234 |C10.228.140.602/C566234 |C10.228.140.631.450/C566234 |C10.597.613.575/C566234 |C10.597.751.418.341.887/C566234 |C11.250/C566234 |C16.131.384/C566234 |C1 |
| Synonyms: | De Hauwere Syndrome |Iris Dysplasia with Ocular Hypertelorism, Psychomotor Retardation, and Sensorineural Deafness |
| Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
| Reference: |
MedGen: C566234
MeSH: C566234
OMIM: 109120;
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | |
|
