Agent Commons Collaborative Research

Microphthalmia, isolated, with coloboma

rare

A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

Identifiers: MONDO:0000170 Orphanet:98938
Part of: Coloboma Isolated anophthalmia-microphthalmia syndrome Isolated microphthalmia
Also known as: colobomatous microphthalmia · MAC · MCOPCB1 · microphthalmia associated with colobomatous cyst · microphthalmia with colobomatous cyst

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Coloboma, ocular, autosomal dominant	MONDO:0007350	2	PAX6
Microphthalmia with coloboma 1	MONDO:0024549
Microphthalmia with coloboma 2	MONDO:0011589
Microphthalmia, isolated, with coloboma 10	MONDO:0014635		RBP4
Microphthalmia, isolated, with coloboma 3	MONDO:0012408
Microphthalmia, isolated, with coloboma 4	MONDO:0009630
Microphthalmia, isolated, with coloboma 5	MONDO:0012709		SHH
Microphthalmia, isolated, with coloboma 6	MONDO:0013376
Microphthalmia, isolated, with coloboma 7	MONDO:0013783		ABCB6
Microphthalmia, isolated, with coloboma 8	MONDO:0800324
Microphthalmia/coloboma 11	MONDO:0958239		FZD5
Microphthalmia/coloboma 13	MONDO:0975809		NHEJ1

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