oculoosteocutaneous syndrome
http://purl.obolibrary.org/obo/MONDO_0008884
A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. [ Orphanet:2713 ]
Term info
- MESH:C565893 (MONDO:equivalentTo)
- Orphanet:2713 (OMIM:211370)
- GARD:0000992 (MONDO:equivalentTo)
- UMLS:C1859385 (Orphanet:2713)
- SCTID:722061006 (MONDO:equivalentTo)
- OMIM:211370 (Orphanet:2713/e)
gard_rare, ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/3687
A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/Orphanet_2713, https://omim.org/entry/211370, http://identifiers.org/snomedct/722061006, http://linkedlifedata.com/resource/umls/id/C1859385, http://identifiers.org/mesh/C565893
anodontia-hypotrichosis syndrome, brachymetapody anodontia hypotrichosis albinoidism, oculoosteocutaneous syndrome, BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM
MONDO:0008884
https://rarediseases.info.nih.gov/diseases/992/brachymetapody-anodontia-hypotrichosis-albinoidism