Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet

Preferred Label : Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 275595;

Détails

Origin ID

275595;

UMLS CUI

C1848743;

Automatic exact mappings (from CISMeF team)
- trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet [MeSH concept]
Currated CISMeF NLP mapping
- Trigonocephaly-bifid nose-acral anomalies syndrome [ORDO Disease]
- trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Bifid nose [HPO term]
- Brachycephaly [HPO term]
- Broad metatarsal [HPO term]
- Broad metatarsals and phalanges [HPO term]
- Broad phalanx [HPO term]
- Bulbous nose [HPO term]
- Global developmental delay [HPO term]
- Micrognathia [HPO term]
- Narrow forehead [HPO term]
- Prominent metopic ridge [HPO term]
- Severe global developmental delay [HPO term]
- Trigonocephaly [HPO term]
ORDO concept(s)
- Trigonocephaly-bifid nose-acral anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trigonocephaly-bifid nose-acral anomalies syndrome [ORDO Disease]
- trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet [MeSH Supplementary Concept]
- trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet [MeSH concept]

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