Omodysplasia 2

Preferred Label : Omodysplasia 2;

Symbol : OMOD2;

CISMeF acronym : OMOD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Omodysplasia, autosomal dominant;

Description : Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (258315).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the frizzled class receptor 2 gene (FZD2, 600667.0001);

Prefixed ID : #164745;

Détails

Origin ID

164745;

UMLS CUI

C2750355;

Currated CISMeF NLP mapping
- Autosomal dominant omodysplasia [ICD-11 More detail]
- Autosomal dominant omodysplasia [ORDO Disease]
- Autosomal dominant omodysplasia (disorder) [SNOMED CT concept]
- Omodysplasia II (disorder) [Inactive SNOMED CT concept]
- omodysplasia 2 [MeSH concept]
- omodysplasia 2 [MeSH Supplementary Concept]
DO Cross reference
- omodysplasia [DO Concept]
Genes related to phenotype
- Frizzled class receptor 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Dislocated radial head [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hypoplastic distal humeri [HPO term]
- Hypospadias [HPO term]
- Limited elbow flexion [HPO term]
- Limited elbow flexion/extension [HPO term]
- Long philtrum [HPO term]
- Micropenis [HPO term]
- Rhizomelic arm shortening [HPO term]
- Short 1st metacarpal [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
ORDO concept(s)
- Autosomal dominant omodysplasia [ORDO Disease]
- Omodysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant omodysplasia [ORDO Disease]
- Autosomal dominant omodysplasia (disorder) [SNOMED CT concept]
- omodysplasia 2 [MeSH Supplementary Concept]
- omodysplasia 2 [MeSH concept]
- omodysplasia 2 [DO Concept]

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