Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies

Preferred Label : Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive.;

Prefixed ID : 601027;

Details

Origin ID

601027;

UMLS CUI

C1832859;

Automatic exact mappings (from CISMeF team)
- Absent tibia-polydactyly-arachnoid cyst syndrome [ORDO Disease]
- Tibia absent polydactyly arachnoid cyst [MeSH concept]
- tibia absent polydactyly arachnoid cyst [MeSH Supplementary Concept]
- tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies [MeSH Supplementary Concept]
- tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies [MeSH concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Agenesis of the diaphragm [HPO term]
- Aplasia/Hypoplasia of the tibia [HPO term]
- Arachnoid cyst [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choroid plexus cyst [HPO term]
- Cleft upper lip [HPO term]
- Postaxial foot polydactyly [HPO term]
- Posterior fossa cyst [HPO term]
- Preaxial foot polydactyly [HPO term]
- Radial bowing [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Absent tibia-polydactyly-arachnoid cyst syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies [MeSH Supplementary Concept]
- tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies [MeSH concept]

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