acromesomelic dysplasia 2A
http://purl.obolibrary.org/obo/MONDO_0008703
An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. [ Orphanet:2098 https://orcid.org/0000-0001-5208-3432 ]
Term info
- GARD:0001300 (MONDO:equivalentTo)
- OMIM:200700 (Orphanet:2098/e)
- UMLS:C0265260 (Orphanet:2098/e)
- DOID:0080052 (MONDO:equivalentTo)
- Orphanet:2098 (OMIM:200700)
- NCIT:C3816 (MONDO:equivalentTo)
ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4948
An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
http://purl.obolibrary.org/obo/DOID_0080052, https://omim.org/entry/200700, http://linkedlifedata.com/resource/umls/id/C0265260, http://purl.obolibrary.org/obo/NCIT_C3816, http://purl.obolibrary.org/obo/Orphanet_2098
GREBE chondrodysplasia, chondrodysplasia, Grebe type, Grebe chondrodysplasia, type II achondrogenesis, Langer-Saldino achondrogenesis, acromesomelic dysplasia 2A, acromesomelic dysplasia, Grebe type, Grebe dysplasia
AMDG, achondrogenesis type II (formerly), Brazilian achondrogenesis, achondrogenesis, type II, formerly, hypochondrogenesis, achondrogenesis, Brazilian, Grebe syndrome, achondrogenesis, type II
MONDO:0008703