Brachytelephalangy with characteristic facies and kallmann syndrome

Preferred Label : Brachytelephalangy with characteristic facies and kallmann syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 113480;

Details

Origin ID

113480;

UMLS CUI

C2931421;

Automatic exact mappings (from CISMeF team)
- Brachytelephalangy-dysmorphism-Kallmann syndrome [ORDO Disease]
- brachytelephalangy characteristic facies kallmann [MeSH Supplementary Concept]
- brachytelephalangy characteristic facies kallmann [MeSH concept]
HPO term(s)
- Abnormality of the skeletal system [HPO term]
- Anosmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Shortening of all distal phalanges of the fingers [HPO term]
- Smooth philtrum [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Brachytelephalangy-dysmorphism-Kallmann syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachytelephalangy-dysmorphism-Kallmann syndrome [ORDO Disease]
- brachytelephalangy characteristic facies kallmann [MeSH Supplementary Concept]
- brachytelephalangy characteristic facies kallmann [MeSH concept]

Keyword's position in hierarchy(ies) :

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