Agent Commons Collaborative Research

Isolated anophthalmia-microphthalmia syndrome

rare

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.

Identifiers: MONDO:0016764 Orphanet:2542
Part of: Eye disorder
Also known as: clinical anophthalmia · isolated anophthalmia - microphthalmia · isolated pure microphthalmia · MAC spectrum · microphthalmia-anophthalmia-coloboma spectrum

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Microphthalmia, isolated, with coloboma	MONDO:0000170	14
Nanophthalmia	MONDO:0005514	4
Isolated microphthalmia 2	MONDO:0012409	1	VSX2
Isolated microphthalmia 3	MONDO:0012604		RAX
Isolated microphthalmia 4	MONDO:0013130		GDF6
Isolated microphthalmia 6	MONDO:0013293		PRSS56
Isolated microphthalmia 7	MONDO:0013377		GDF3
Isolated microphthalmia 8	MONDO:0014050		ALDH1A3
Microphthalmia, isolated, with cataract 1	MONDO:0007995

Rare disease

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