Brachydactyly, type b1

Preferred Label : Brachydactyly, type b1;

Symbol : BDB1;

CISMeF acronym : BDB; BDB1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BDB; Brachydactyly, type b;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in receptor tyrosine kinase-like orphan receptor 2 gene (ROR2, 602337.0001);

Prefixed ID : #113000;

Détails

Origin ID

113000;

UMLS CUI

C1862112;

Automatic exact mappings (from CISMeF team)
- Brachydactyly type B [ORDO Disease]
- ROR2 wt Allele [NCIt concept]
- Type B brachydactyly [HPO term]
- Tyrosine-Protein Kinase Transmembrane Receptor ROR2 [NCIt concept]
- bis(diazo)benzidine [MeSH concept]
- bis(diazo)benzidine [MeSH Supplementary Concept]
- database, bibliographic [CISMeF resources Type]
- databases, bibliographic [MeSH Descriptor]
- symbol withdrawn BDB1 [HGNC gene]
Broader ORDO disease(s)
- Brachydactyly type B [ORDO Disease]
Currated CISMeF NLP mapping
- Brachydactyly type B1 [ORDO Disease]
- brachydactyly type B1 [DO Concept]
- brachydactyly, type B1 [MeSH concept]
- brachydactyly, type B1 [MeSH Supplementary Concept]
DO Cross reference
- brachydactyly type B1 [DO Concept]
Genes related to phenotype
- Receptor tyrosine kinase-like orphan receptor 2 [OMIM gene]
HPO term(s)
- Anonychia [HPO term]
- Aplasia/Hypoplasia of the distal phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the distal phalanges of the toes [HPO term]
- Aplastic/hypoplastic fingernails [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Camptodactyly [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Hemivertebrae [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Hypoplastic fingernail [HPO term]
- Hypoplastic sacrum [HPO term]
- Joint contracture of the hand [HPO term]
- Micropenis [HPO term]
- Short long bone [HPO term]
- Short middle phalanx of finger [HPO term]
- Syndactyly [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Type B brachydactyly [HPO term]
- Ventricular septal defect [HPO term]
- Vertebral fusion [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Brachydactyly type B [ORDO Disease]
- Brachydactyly type B1 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Type B brachydactyly [HPO term]
- brachydactyly type B1 [DO Concept]
- brachydactyly, type B1 [MeSH Supplementary Concept]
- brachydactyly, type B1 [MeSH concept]
Validated automatic mappings to NTBT
- Brachydactyly type B [ICD-11 More detail]

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