phocomelia, Schinzel type
Facts
6 properties- Instance of
- rare disease, class of disease[6]
- Subclass of
- syndrome with limb reduction defects, dysostosis of genetic origin with limb anomaly as a major feature, phocomelia, developmental defect during embryogenesis
- Has phenotype
- Wikidata item, ectrodactyly, split hand, intrauterine growth restriction, femoral bowing, Hypoplasia of the radius, Wikidata item, congenital absence of upper arm and forearm with hand present, Wikidata item, tracheoesophageal fistula[11][12][13][14][15][16][17][18][19][20]
- P14914
- D02879[21]
🏷️ Also known as
en ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
en Al Awadi-Raas-Rothschild syndrome
en Al-Awadi/Raas-Rothschild Syndrome
en Aplasia/hypoplasia of limbs and pelvis
en Congenital absence of ulna and fibula
en Limb/Pelvis-Hypoplasia/Aplasia Syndrome
en phocomelia, Schinzel type
en Schinzel Phocomelia Syndrome
en Severe limb deficit
de Al-Awadi-Raas-Rothschild-Syndrom
fi Al-Awadi–Raas-Rothschildin oireyhtymä
fr phocomélie Schinzel
fr syndrome d'aplasie/hypoplasie des membres et du pelvis,
🔖 Identifiers · 11
- Exact match
- www.orpha.net
- GARD rare disease ID
- 9212
- Google Knowledge Graph ID
- /g/11hd5fcldv
- ICD-10-CM
- Q87.2
- KEGG ID
- H00847
- MeSH descriptor ID
- C535612
- Mondo ID
- MONDO_0010164
- OMIM ID
- 276820
- Orphanet ID
- 2879
- UMLS CUI
- C1848651
- UniProt disease ID
- DI-01908
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