Bartsocas-papas syndrome 2

Preferred Label : Bartsocas-papas syndrome 2;

Symbol : BPS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Popliteal pterygium syndrome, bartsocas-papas type 2;

Prefixed ID : #619339;

Details

Origin ID

619339;

UMLS CUI

C5543445;

Genes related to phenotype
- Component of nuclear factor kappa-b kinase complex [OMIM gene]
HPO term(s)
- 2-5 finger cutaneous syndactyly [HPO term]
- Absent distal phalanges [HPO term]
- Accessory oral frenulum [HPO term]
- Ankyloblepharon [HPO term]
- Antecubital pterygium [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axillary pterygium [HPO term]
- Bilateral cleft lip and palate [HPO term]
- Congenital onset [HPO term]
- Corneal opacity [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Overfolded helix [HPO term]
- Popliteal pterygium [HPO term]
- Prominent occiput [HPO term]
- Small hand [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Bartsocas-Papas syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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