ZFIN Human Disease: coloboma

OBO ID: DOID:12270

Term Name:	coloboma		Search Ontology:
Synonyms:	coloboma of eye coloboma of macula congenital ocular coloboma
Definition:	An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (2)
References:	GARD:1433 ICD10CM:Q13.0 MESH:D003103 NCI:C98877 OMIM:120200 OMIM:120300 OMIM:216820 ORDO:194 ORDO:98945 SNOMEDCT_US_2023_03_01:93390002 UMLS_CUI:C0009363
Ontology:	Human Disease ( DOID:12270 )

Relationships

is a type of:	eye disease eye disease Show first 5 Terms

OTHER coloboma PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PAX6	pax6a pax6b	Microphthalmia/coloboma 12	120200
SALL2	sall2	?Coloboma, ocular, autosomal recessive	216820

ZEBRAFISH MODELS

Fish	Conditions	Citations
dzip1^{ts294e/ts294e}	standard conditions	Nandamuri et al., 2022
lamb1a^m189/m189	standard conditions	(2)
mab21l2^au10/au10 (AB)	standard conditions	Gath et al., 2019
pax2a^tu29a/tu29a	standard conditions	(2)
ptch2^{tc294z/tc294z}	standard conditions	Gordon et al., 2018
yap1^nl13/nl13	standard conditions	Miesfeld et al., 2015
AB + MO1-adamts16	standard conditions	Cao et al., 2018
AB + MO1-atxn7	standard conditions	Carrillo-Rosas et al., 2018
AB + MO2-adamts16	standard conditions	Cao et al., 2018
AB + MO3-fzd5	standard conditions	Liu et al., 2016
af1Tg	heat shock	Knickmeyer et al., 2018
af1Tg; af4Tg; y1Tg	heat shock	Eckert et al., 2020
af1Tg; mw29Tg; uh2Tg	heat shock	Eckert et al., 2020

PHENOTYPE No data available

CITATIONS (26)