Coloboma of macula and skeletal anomalies

Preferred Label : Coloboma of macula and skeletal anomalies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Phillips and Griffiths (1969) described a brother and sister with bilateral macular coloboma, cleft palate, hallux valgus and other abnormalities. The parents were not related. The ocular trait was similar to that described by Sorsby as a dominant and listed here as 'coloboma of the macula with type B brachydactyly' (120400). Digital abnormalities present in the sibs reported by Phillips and Griffiths were of relatively mild type and different nature than those in Sorsby's family. *FIELD* RF 1. Phillips, C. I.; Griffiths, D. L.: Macular coloboma and skeletal abnormality. Brit. J. Ophthal. 53: 346-349, 1969. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 216800;

Details

Origin ID

216800;

UMLS CUI

C1857619;

Currated CISMeF NLP mapping
- Macular coloboma-cleft palate-hallux valgus syndrome [ORDO Disease]
- coloboma of macula and skeletal anomalies [MeSH concept]
- coloboma of macula and skeletal anomalies [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Contracture of the distal interphalangeal joint of the 5th finger [HPO term]
- Coxa valga [HPO term]
- Genu valgum [HPO term]
- Hallux valgus [HPO term]
- Hypermetropia [HPO term]
- Macular coloboma [HPO term]
- Nystagmus [HPO term]
- Recurrent patellar dislocation [HPO term]
- Sloping forehead [HPO term]
ORDO concept(s)
- Macular coloboma-cleft palate-hallux valgus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- coloboma of macula and skeletal anomalies [MeSH Supplementary Concept]
- coloboma of macula and skeletal anomalies [MeSH concept]

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