Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome

Preferred Label : Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome;

Symbol : BCAHH;

Type : Phenotype, molecular basis known;

Prefixed ID : #620186;

Details

Origin ID

620186;

UMLS CUI

C5774283;

Genes related to phenotype
- Lysine-specific methyltransferase 2d [OMIM gene]
ORDO concept(s)
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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