Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

Preferred Label : Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : De hauwere syndrome; Iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness;

Inheritance : Autosomal dominant;

Prefixed ID : 109120;

Détails

Origin ID

109120;

UMLS CUI

C1862373;

Automatic exact mappings (from CISMeF team)
- Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [MeSH Supplementary Concept]
- Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [MeSH concept]
- De Hauwere syndrome [ORDO Disease]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Abnormality of the vertebral column [HPO term]
- Abnormally prominent line of Schwalbe [HPO term]
- Absent extraocular muscles [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Coxa valga [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Hip dislocation [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Large sella turcica [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Proptosis [HPO term]
- Rieger anomaly [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Ventriculomegaly [HPO term]
- abnormal or absent auditory nerve and brainstem responses [HPO term]
ORDO concept(s)
- De Hauwere syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [MeSH Supplementary Concept]
- Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [MeSH concept]

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