Acrofrontofacionasal dysostosis 2

Preferred Label : Acrofrontofacionasal dysostosis 2;

CISMeF acronym : AFFND2;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Affn dysostosis 2; Naguib-richieri-costa syndrome; Hypertelorism, hypospadias, and polysyndactyly syndrome; AFFND2; Acrofrontofacionasal dysostosis with genitourinary anomalies;

Inheritance : Autosomal recessive;

Prefixed ID : 239710;

Details

Origin ID

239710;

UMLS CUI

C1855904;

Automatic exact mappings (from CISMeF team)
- Acrofrontofacionasal dysostosis type 2 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hypertelorism-hypospadias-polysyndactyly syndrome [ORDO Disease]
- Naguib-Richieri-Costa syndrome [MeSH concept]
- Naguib-Richieri-Costa syndrome [MeSH Supplementary Concept]
DO Cross reference
- acrofrontofacionasal dysostosis [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Downslanted palpebral fissures [HPO term]
- Hand polydactyly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic, overfolded helices [HPO term]
- Hypospadias [HPO term]
- Low-set ears [HPO term]
- Microbrachycephaly [HPO term]
- Microcephaly [HPO term]
- Overfolded helix [HPO term]
- Posteriorly rotated ears [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Redundant neck skin [HPO term]
- Sacral dimple [HPO term]
- Shawl scrotum [HPO term]
- Short stature [HPO term]
- Syndactyly [HPO term]
- Thickened nuchal skin fold [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nose [HPO term]
- Widow's peak [HPO term]
ORDO concept(s)
- Hypertelorism-hypospadias-polysyndactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrofrontofacionasal dysostosis type 2 (disorder) [SNOMED CT concept]
- Hypertelorism-hypospadias-polysyndactyly syndrome [ORDO Disease]
- Naguib-Richieri-Costa syndrome [MeSH Supplementary Concept]
- Naguib-Richieri-Costa syndrome [MeSH concept]

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