GENE - TERM ANNOTATION REPORT
RGD ID:
1350607
Species:
Homo sapiens
RGD Object:
Gene
Symbol:
KMT2D
Name:
lysine methyltransferase 2D
Acc ID:
DOID:9006871
Term:
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
Definition:
This disease is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.
Definition Source(s):
OMIM:620186
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
KMT2D IAGP 7240710 OMIM KMT2D IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome PMID:25741868 PMID:32083401 KMT2D IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome PMID:28492532 PMID:31949313 KMT2D IAGP (Homo sapiens) or (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome PMID:25741868 KMT2D IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome PMID:25741868 PMID:31949313 PMID:32083401 KMT2D IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome PMID:31949313 PMID:32083401 KMT2D IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome PMID:12002153 PMID:31949313 KMT2D IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome PMID:25590979 PMID:25741868 PMID:32083401 KMT2D IAGP (Homo sapiens) 8554872 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome PMID:31949313 
