Rodrigues blindness

Preferred Label : Rodrigues blindness;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities;

Inheritance : Autosomal recessive;

Prefixed ID : 268320;

Details

Origin ID

268320;

UMLS CUI

C1849332;

Currated CISMeF NLP mapping
- rodrigues blindness [MeSH concept]
- rodrigues blindness [MeSH Supplementary Concept]
False automatic mappings
- Ectodermal dysplasia - blindness [ICD-11 More detail]
- Ectodermal dysplasia-blindness syndrome [ORDO Disease]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Ectodermal dysplasia [HPO term]
- Fine hair [HPO term]
- Intellectual disability [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Narrow nasal bridge [HPO term]
- Nasal flaring [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Sclerocornea [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Tooth malposition [HPO term]
ORDO concept(s)
- Ectodermal dysplasia-blindness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia-blindness syndrome [ORDO Disease]
- rodrigues blindness [MeSH Supplementary Concept]
- rodrigues blindness [MeSH concept]

Keyword's position in hierarchy(ies) :

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