EEM syndrome
medical condition
Facts
8 properties- Instance of
- rare disease, class of disease[6]
- Subclass of
- ectodermal dysplasia, dysostosis of genetic origin with limb anomaly as a major feature, syndrome with limb reduction defects, genetic macular dystrophy, hereditary retinal dystrophy, autosomal recessive disease, developmental defect during embryogenesis[7][8][9]
- Age of onset
- neonatal onset[13]
- Has phenotype
- retinal disease, Macular dystrophy, ectrodactyly, eye disease, distorted vision, Dental caries, Widely spaced teeth, microdontia, Finger syndactyly, strabismus[14][15][16][17][18][19][20][21][22][23]
- Health specialty
- medical genetics[11]
- P14914
- D01897[24]
- Prevalence
- +0.000001[10]
🏷️ Also known as
en EEM syndrome
en Ectodermal dysplasia, ectrodactyly, and macular dystrophy
en ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME
en ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME; EEMS
en Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
en EEMS
de EEM-Syndrom
fr syndrome EEM
tr EEM sendromu
🔖 Identifiers · 16
- Disease Ontology ID
- DOID:0111649
- Exact match
- www.orpha.net, purl.obolibrary.org, identifiers.org
- GARD rare disease ID
- 2078
- ICD-10 ID
- Q82.4
- ICD-10-CM
- Q87.8
- ICD-11 ID (Foundation)
- 1240142461
- ICD-9 ID
- 757.31
- KEGG ID
- H00639
- MeSH descriptor ID
- C536190
- Microsoft Academic ID (discontinued)
- 2776323347
- Mondo ID
- MONDO_0009155
- OMIM ID
- 225280
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