Acrofrontofacionasal dysostosis 1

Preferred Label : Acrofrontofacionasal dysostosis 1;

CISMeF acronym : AFFND1;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip/palate; Cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly; AFFND1; Affn dysostosis 1;

Inheritance : Autosomal recessive;

Prefixed ID : 201180;

Details

Origin ID

201180;

UMLS CUI

C4551987;

Automatic exact mappings (from CISMeF team)
- Acrofrontofacionasal dysostosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrofrontofacionasal dysostosis [ORDO Disease]
- Acrofrontofacionasal dysostosis syndrome [MeSH concept]
- acrofrontofacionasal dysostosis syndrome [MeSH Supplementary Concept]
DO Cross reference
- acrofrontofacionasal dysostosis [DO Concept]
HPO term(s)
- Acetabular dysplasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Broad thumb [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Iris atrophy [HPO term]
- Long eyebrows [HPO term]
- Long eyelashes [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microphthalmia [HPO term]
- Mixed hearing impairment [HPO term]
- Oligodontia [HPO term]
- Optic atrophy [HPO term]
- Pectus excavatum [HPO term]
- Ptosis [HPO term]
- S-shaped palpebral fissures [HPO term]
- Seizure [HPO term]
- Short distal phalanx of finger [HPO term]
- Short metacarpal [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- Widow's peak [HPO term]
ORDO concept(s)
- Acrofrontofacionasal dysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrofrontofacionasal dysostosis [ORDO Disease]
- Acrofrontofacionasal dysostosis (disorder) [SNOMED CT concept]
- Acrofrontofacionasal dysostosis syndrome [MeSH concept]
- acrofrontofacionasal dysostosis [DO Concept]
- acrofrontofacionasal dysostosis syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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