Brachydactyly, mononen type

Preferred Label : Brachydactyly, mononen type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Thumbs and great toes, short and abducted;

Inheritance : X-linked dominant;

Prefixed ID : 301940;

Details

Origin ID

301940;

UMLS CUI

C1844919;

Currated CISMeF NLP mapping
- Mononen Karnes Senac syndrome [MeSH concept]
- Mononen-Karnes-Senac syndrome [DO Concept]
- Mononen-Karnes-Senac syndrome [ORDO Disease]
- Skeletal dysplasia brachydactyly syndrome (disorder) [SNOMED CT concept]
- mononen karnes senac syndrome [MeSH Supplementary Concept]
DO Cross reference
- Mononen-Karnes-Senac syndrome [DO Concept]
HPO term(s)
- Absent distal phalanges [HPO term]
- Absent distal phalanges of index fingers and second toes [HPO term]
- Absent distal phalanx of the 2nd toe [HPO term]
- Aplasia of the distal phalanx of the 2nd finger [HPO term]
- Coalescence of tarsal bones [HPO term]
- Mild short stature [HPO term]
- Proximal fibular overgrowth [HPO term]
- Short 1st metacarpal [HPO term]
- Short first metacarpals and first metatarsals [HPO term]
- Short first metatarsal [HPO term]
- Synostosis of carpals/tarsals [HPO term]
- Variable mild short stature [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Mononen-Karnes-Senac syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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