Boudin-mortier syndrome

Preferred Label : Boudin-mortier syndrome;

Symbol : BOMOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tall stature and long digits with extra epiphyses;

Prefixed ID : #619543;

Details

Origin ID

619543;

UMLS CUI

C5561992;

Genes related to phenotype
- Natriuretic peptide receptor C [OMIM gene]
HPO term(s)
- Aortic root aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Difficulty walking [HPO term]
- Elevated alkaline phosphatase of bone origin [HPO term]
- Joint laxity [HPO term]
- Long fingers [HPO term]
- Long hallux [HPO term]
- Long thumb [HPO term]
- Long toe [HPO term]
- Malar flattening [HPO term]
- Mallet finger [HPO term]
- Mitral valve prolapse [HPO term]
- Myopia [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Pseudoepiphyses of the middle phalanges of the hand [HPO term]
- Pseudoepiphyses of the proximal phalanges of the hand [HPO term]
- Pseudoepiphysis of the 1st metacarpal [HPO term]
- Tall stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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