Brachydactyly, type b2

Preferred Label : Brachydactyly, type b2;

Symbol : BDB2;

CISMeF acronym : BDB2;

Type : Phenotype, molecular basis known;

Description : Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the human homolog of the mouse noggin gene (NOG, 602991.0012);

Prefixed ID : #611377;

Details

Origin ID

611377;

UMLS CUI

C1969652;

Currated CISMeF NLP mapping
- Brachydactyly type B2 [ICD-11 More detail]
- Brachydactyly type B2 [ORDO Disease]
- Brachydactyly type B2 (disorder) [SNOMED CT concept]
- brachydactyly type B2 [DO Concept]
- brachydactyly, type B2 [MeSH concept]
DO Cross reference
- brachydactyly type B2 [DO Concept]
Genes related to phenotype
- Noggin [OMIM gene]
HPO term(s)
- Absent phalangeal crease [HPO term]
- Aplasia/Hypoplasia of the distal phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the distal phalanges of the toes [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the toes [HPO term]
- Aplasia/Hypoplasia of the nails [HPO term]
- Aplasia/Hypoplastia of the interphalangeal creases [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carpal synostosis [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Distal symphalangism of hands [HPO term]
- Hypermetropia [HPO term]
- Proximal placement of thumb [HPO term]
- Proximal symphalangism of hands [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short 1st metacarpal [HPO term]
- Short distal phalanx of finger [HPO term]
- Tarsal synostosis [HPO term]
ORDO concept(s)
- Brachydactyly type B [ORDO Disease]
- Brachydactyly type B2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type B2 [ORDO Disease]
- Brachydactyly type B2 [ICD-11 More detail]
- Brachydactyly type B2 (disorder) [SNOMED CT concept]
- brachydactyly type B2 [DO Concept]
- brachydactyly, type B2 [MeSH concept]

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