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bn:27065537n
Noun Named Entity
SYL
No term available
EN
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly Wikidata
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Sources
IS A
EN
disease
EN
rare disease
EN
syndrome
EN
autosomal recessive disease
EN
Syndromic microphthalmia
DISCOVERER OR INVENTOR
Petrus Johannes Waardenburg
GENETIC ASSOCIATION
EN
SMOC1
HEALTH SPECIALTY
EN
medical genetics

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