loading...| Preferred Name |
Axenfeld-Rieger syndrome |
| Synonyms |
Anterior Chamber Cleavage Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C535679 |
| altLabel |
Anterior Chamber Cleavage Syndrome Iridogoniodysgenesis with somatic anomalies Axenfeld-Rieger Anomaly Axenfeld-Rieger Syndrome, Type 1 Axenfeld-Rieger Anomaly with or without Cardiac Defects and-or Sensorineural Hearing Loss Rieger Syndrome, Type 3 Rieger syndrome Axenfeld Anomaly Axenfeld Syndrome Rieger Syndrome, Type 1 Axenfeld-Rieger Syndrome, Type 3 |
| cui |
C3714873 C2678503 C0266548 C3495488 C1280768 C0265341 |
| Has mapping qualifier | |
| HM |
D000869/Q000002 D015785 D005124 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D015785 |
| MDA |
20100825 |
| MeSH Frequency |
79 |
| MMR |
20180615 |
| 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 |
T800900 T840981 T756907 T810586 T800959 T736860 T810264 T000889011 T810588 T736858 T800903 T810590 |
| TH |
NLM (2010) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 T047 |