Frontonasal dysplasia 2

Preferred Label : Frontonasal dysplasia 2;

Symbol : FND2;

CISMeF acronym : FND2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aristaless-like 4, mouse, homolog of, gene (ALX4, 605420.0008);

Prefixed ID : #613451;

Details

Origin ID

613451;

UMLS CUI

C3150703;

Automatic exact mappings (from CISMeF team)
- Frontonasal dysplasia-alopecia-genital anomalies syndrome [ORDO Disease]
Genes related to phenotype
- Aristaless homeobox 4 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Broad columella [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Craniosynostosis [HPO term]
- Decreased lacrimation [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal ridge [HPO term]
- Encephalocele [HPO term]
- Hypertelorism [HPO term]
- Hypohidrosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Parietal foramina [HPO term]
- Short palpebral fissure [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Upslanted palpebral fissure [HPO term]
- Variable expressivity [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Frontonasal dysplasia-alopecia-genital anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients