ZFIN Human Disease: Kabuki syndrome

OBO ID: DOID:0060473

Term Name:	Kabuki syndrome		Search Ontology:
Synonyms:	Kabuki make up syndrome KMS Niikawa-Kuroki syndrome
Definition:	A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (5)
References:	GARD:6810 MESH:C537705 NCI:C124837 OMIM:147920 OMIM:300867 ORDO:2322 SNOMEDCT_US_2023_03_01:205805008 UMLS_CUI:C0796004
Ontology:	Human Disease ( DOID:0060473 )

Relationships

is a type of:	syndrome syndrome Show first 5 Terms

OTHER Kabuki syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KDM6A	kdm6a	Kabuki syndrome 2	300867
KMT2D	kmt2d	Kabuki syndrome 1	147920

ZEBRAFISH MODELS

Fish	Conditions	Citations
kmt2d^{rdu1001/rdu1001}	standard conditions	Tsai et al., 2018
kmt2d^zy59/zy59 (AB)	standard conditions	Serrano et al., 2019
EKW + CRISPR10-kmt2d	standard conditions	Tsai et al., 2018
EKW + MO2-kdm6a	standard conditions	Tsai et al., 2018
EKW + MO5-kmt2d	standard conditions	Tsai et al., 2018
EKW + CRISPR1-rap1ab + CRISPR1-rap1b	standard conditions	Tsai et al., 2018

PHENOTYPE No data available

CITATIONS (4)