colobomatous microphthalmia-rhizomelic dysplasia syndrome
human disease
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colobomatous microphthalmia-rhizomelic dysplasia syndrome
Summary
colobomatous microphthalmia-rhizomelic dysplasia syndrome is a developmental defect during embryogenesis[1].
Key Facts
- colobomatous microphthalmia-rhizomelic dysplasia syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome's instance of is recorded as rare disease[3].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome's instance of is recorded as class of disease[4].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome is a type of malformation syndrome with short stature[5].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome is a type of syndromic microphthalmia[6].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome is a type of mesomelic and rhizo-mesomelic dysplasia[7].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome is a type of autosomal genetic disease[8].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome's genetic association is recorded as MAB21L2[9].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_424099[10].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111802[11].
- colobomatous microphthalmia-rhizomelic dysplasia syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111802[12].