Pterygium colli and impaired intellectual development with facial and digital anomalies

Preferred Label : Pterygium colli and impaired intellectual development with facial and digital anomalies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Pterygium colli and mental retardation with facial and digital anomalies;

Inheritance : Autosomal dominant;

Prefixed ID : 600159;

Details

Origin ID

600159;

UMLS CUI

C1838562;

Currated CISMeF NLP mapping
- Pterygium colli mental retardation digital anomalies [MeSH concept]
- Pterygium colli-intellectual disability-digital anomalies syndrome [ORDO Disease]
- pterygium colli mental retardation digital anomalies [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad distal phalanx of finger [HPO term]
- Edema of the dorsum of feet [HPO term]
- Edema of the dorsum of hands [HPO term]
- Epicanthus inversus [HPO term]
- Generalized hypotonia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Upslanted palpebral fissure [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Pterygium colli-intellectual disability-digital anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pterygium colli mental retardation digital anomalies [MeSH concept]
- Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) [SNOMED CT concept]
- Pterygium colli-intellectual disability-digital anomalies syndrome [ORDO Disease]
- pterygium colli mental retardation digital anomalies [MeSH Supplementary Concept]

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