Ablepharon-macrostomia syndrome

Preferred Label : Ablepharon-macrostomia syndrome;

Symbol : AMS;

CISMeF acronym : AMS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of Drosophila TWIST-2 gene (TWIST2, 607556.0004);

Prefixed ID : #200110;

Détails

Origin ID

200110;

UMLS CUI

C1860224;

Automatic exact mappings (from CISMeF team)
- Accelerator Mass Spectrometry [NCIt concept]
- Am Ag [LOINC component]
- Americium [NCIt concept]
- Attometer [NCIt concept]
- Multiple system atrophy [ORDO Disease]
- Supplementary Motor Area [MeSH concept]
- TWIST2 wt Allele [NCIt concept]
- alpha-Amylases [MeSH Descriptor]
- alpha-Amylases [MeSH concept]
- alpha-amylase [International Nonproprietary Name]
- alpha-amylase [SNOMED Notion]
- mesenteric artery, superior [MeSH Descriptor]
- multiple system atrophy [MeSH concept]
- multiple system atrophy [MeSH Descriptor]
CISMeF manual mappings
- Ablepharon macrostomia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ablepharon macrostomia syndrome [MeSH concept]
- Ablepharon macrostomia syndrome [ORDO Disease]
- Ablepharon-macrostomia syndrome [ICD-11 More detail]
- ablepharon macrostomia syndrome [DO Concept]
- ablepharon macrostomia syndrome [MeSH Supplementary Concept]
DO Cross reference
- ablepharon macrostomia syndrome [DO Concept]
False automatic mappings
- Armenia [NCIt concept]
Genes related to phenotype
- Twist family bhlh transcription factor 2 [OMIM gene]
HPO term(s)
- Ablepharon [HPO term]
- Abnormal nasal morphology [HPO term]
- Absent eyebrow [HPO term]
- Absent eyelashes [HPO term]
- Ambiguous genitalia [HPO term]
- Aplasia/Hypoplasia of the nipples [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptophthalmos [HPO term]
- Delayed speech and language development [HPO term]
- Dry skin [HPO term]
- Eyelids, eyebrows, and eyelashes absent [HPO term]
- Hypertelorism [HPO term]
- Microtia, third degree [HPO term]
- Short metacarpal [HPO term]
- Short upper lip [HPO term]
- Talipes equinovarus [HPO term]
- Toe syndactyly [HPO term]
- Ventral hernia [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Ablepharon macrostomia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ablepharon macrostomia syndrome [ORDO Disease]
- Ablepharon macrostomia syndrome [MeSH concept]
- Ablepharon macrostomia syndrome [MedDRA Preferred Term]
- Ablepharon macrostomia syndrome (disorder) [SNOMED CT concept]
- ablepharon macrostomia syndrome [MeSH Supplementary Concept]
- ablepharon macrostomia syndrome [DO Concept]

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