Fryns microphthalmia syndrome

Preferred Label : Fryns microphthalmia syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Anophthalmia-plus syndrome; Microphthalmia with facial clefting;

Inheritance : Autosomal recessive;

Prefixed ID : 600776;

Details

Origin ID

600776;

UMLS CUI

C1833339;

CISMeF manual mappings
- Anophthalmia plus syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Anophthalmia plus syndrome [MeSH concept]
- Anophthalmia plus syndrome [ORDO Disease]
- anophthalmia plus syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the ear [HPO term]
- Abnormality of the genitourinary system [HPO term]
- Abnormality of the vertebral column [HPO term]
- Anophthalmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral cleft lip and palate [HPO term]
- Facial cleft [HPO term]
- Macrotia [HPO term]
- Microphthalmia [HPO term]
- Neural tube defect [HPO term]
ORDO concept(s)
- Anophthalmia plus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anophthalmia plus syndrome [ORDO Disease]
- Anophthalmia plus syndrome [MeSH concept]
- Anophthalmia plus syndrome (disorder) [SNOMED CT concept]
- anophthalmia plus syndrome [MeSH Supplementary Concept]

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