Greenberg dysplasia
http://purl.obolibrary.org/obo/MONDO_0008974
A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable. [ Orphanet:1426 ]
Term info
- Orphanet:1426 (OMIM:215140)
- GARD:0008754 (MONDO:equivalentTo)
- UMLS:CN199524 (MONDO:equivalentTo)
- UMLS:C2931048 (Orphanet:1426)
- OMIM:215140 (Orphanet:1426/e)
- MESH:C535858 (MONDO:equivalentTo)
- DOID:0111588 (MONDO:equivalentTo)
- SCTID:389261002 (MONDO:equivalentTo)
gard_rare, ordo_disease
https://github.com/monarch-initiative/mondo/issues/4948
A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.
http://linkedlifedata.com/resource/umls/id/CN199524, https://omim.org/entry/215140, http://identifiers.org/mesh/C535858, http://purl.obolibrary.org/obo/Orphanet_1426, http://purl.obolibrary.org/obo/DOID_0111588, http://identifiers.org/snomedct/389261002, http://linkedlifedata.com/resource/umls/id/C2931048
Greenberg dysplasia, skeletal dysplasia, Greenberg type, hem dysplasia, hydrops-ectopic calcification-motheaten syndrome
hydrops, ectopic calcification, moth-eaten skeletal dysplasia, hem, Greenberg skeletal dysplasia, hydrops-ectopic calcification-moth-eaten skeletal dysplasia, hem skeletal dysplasia, GRBGD, autosomal recessive lethal chondrodystrophy with congenital hydrops, hem/Greenberg dysplasia, chondrodystrophy, hydropic and prenatally lethal type, moth-eaten skeletal dysplasia
MONDO:0008974
https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia