loading...| Preferred Name |
Axenfeld-Rieger syndrome |
|
| Synonyms |
Axenfeld-Rieger Anomaly |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535679 |
|
| altLabel |
Axenfeld-Rieger Anomaly Iridogoniodysgenesis with somatic anomalies Anterior Chamber Cleavage Syndrome Rieger syndrome Axenfeld-Rieger Syndrome, Type 3 Axenfeld Syndrome Rieger Syndrome, Type 1 Rieger Syndrome, Type 3 Axenfeld-Rieger Syndrome, Type 1 Axenfeld-Rieger Anomaly with or without Cardiac Defects and-or Sensorineural Hearing Loss Axenfeld Anomaly |
|
| cui |
C1280768 C3714873 C0266548 C2678503 C0265341 |
|
| Has mapping qualifier | ||
| HM |
D000869/Q000002 D015785 D005124 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D000869 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
139 |
|
| MMR |
20200930 |
|
| notation |
C535679 |
|
| prefLabel |
Axenfeld-Rieger syndrome |
|
| SC |
3 |
|
| Scope Statement |
A spectrum of developmental abnormalities affecting the anterior segment of the eye. Blindness due to GLAUCOMA occurs in 50% of cases. Other anomalies include DENTAL ENAMEL HYPOPLASIA, failure of involution of periumbilical skin, and hypoplasia of the MAXILLARY BONE. Germline mutations have been identified in the PITX2 gene for Type I (OMIM: 180500) and the FOXC gene for Type 3 (OMIM: 602482).Type 2 has been mapped to chromosome 13 (OMIM: 601499) |
|
| TERMUI |
T800959 T810590 T756907 T736858 T810588 T800900 T800903 T810264 T736860 T000889011 T840981 T810586 |
|
| TH |
OMIM (2013) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 T019 |