Bosma arhinia microphthalmia syndrome

Preferred Label : Bosma arhinia microphthalmia syndrome;

Symbol : BAMS;

CISMeF acronym : BAMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the structural maintenance of chromosomes flexible hinge domain-containing protein-1 gene (SMCHD1, 614982.0007);

Prefixed ID : #603457;

Détails

Origin ID

603457;

UMLS CUI

C1863878;

Automatic exact mappings (from CISMeF team)
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Arhinia, choanal atresia, and microphthalmia [MeSH concept]
- Arrhinia with choanal atresia and microphthalmia syndrome (disorder) [SNOMED CT concept]
- Arrhinia-choanal atresia-microphthalmia syndrome [ORDO Disease]
- arhinia, choanal atresia, and microphthalmia [MeSH Supplementary Concept]
Genes related to phenotype
- Structural maintenance of chromosomes flexible hinge domain-containing protein 1 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Absent tragus [HPO term]
- Anosmia [HPO term]
- Aplasia of the nose [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Choanal atresia [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Coloboma [HPO term]
- Conductive hearing impairment [HPO term]
- Cryptorchidism [HPO term]
- Dental malocclusion [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of teeth [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Lacrimal duct atresia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Paranasal sinus hypoplasia [HPO term]
- Primary amenorrhea [HPO term]
- Synophrys [HPO term]
ORDO concept(s)
- Arrhinia-choanal atresia-microphthalmia syndrome [ORDO Disease]
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arhinia, choanal atresia, and microphthalmia [MeSH concept]
- Arrhinia with choanal atresia and microphthalmia syndrome (disorder) [SNOMED CT concept]
- Arrhinia-choanal atresia-microphthalmia syndrome [ORDO Disease]
- arhinia, choanal atresia, and microphthalmia [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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