Axenfeld-rieger syndrome, type 2

Preferred Label : Axenfeld-rieger syndrome, type 2;

Symbol : RIEG2;

CISMeF acronym : RIEG2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Rieger syndrome, type 2;

Description : Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities are sometimes associated. For a general phenotypic description and a discussion of genetic heterogeneity and nomenclature of Axenfeld-Rieger syndrome, see RIEG1 (180500).;

Inheritance : Autosomal dominant;

Prefixed ID : %601499;

Details

Origin ID

601499;

UMLS CUI

C1832229;

Currated CISMeF NLP mapping
- Axenfeld-Rieger syndrome type 2 [DO Concept]
- Rieger syndrome 2 [MeSH concept]
- rieger syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Axenfeld-Rieger syndrome type 2 [DO Concept]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Anal stenosis [HPO term]
- Anterior chamber synechiae [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Broad nasal root [HPO term]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Everted lower lip vermilion [HPO term]
- Glaucoma [HPO term]
- Hearing impairment [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Mandibular prognathia [HPO term]
- Microcornea [HPO term]
- Microdontia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Protruding lower lip [HPO term]
- Short philtrum [HPO term]
- Telecanthus [HPO term]
- Umbilical hernia [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Axenfeld-Rieger syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axenfeld-Rieger syndrome type 2 [DO Concept]
- Rieger syndrome 2 [MeSH concept]
- rieger syndrome 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Axenfeld-Rieger syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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