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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Anophthalmia plus syndrome
Fryns microphthalmia syndrome · Microphthalmia with facial clefting
Colobomatous microphthalmia
MAC · Microphthalmia with colobomatous cyst
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3
Hypertelorism-microtia-facial clefting syndrome
Bixler-Christian-Gorlin syndrome · HMC syndrome
Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome · OAS
Microphthalmia, Lenz type
Lenz microphthalmia