microcephalic osteodysplastic primordial dwarfism types I and III
http://purl.obolibrary.org/obo/MONDO_0016994
Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. [ Orphanet:2636 ]
Term info
- Orphanet:2636 (MONDO:equivalentTo)
- GARD:0005120 (MONDO:equivalentTo)
- UMLS:CN202308 (MONDO:equivalentTo)
- SCTID:725461009 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.
http://linkedlifedata.com/resource/umls/id/CN202308, http://identifiers.org/snomedct/725461009, http://purl.obolibrary.org/obo/Orphanet_2636
primordial microcephalic dwarfism, Crachami type, Taybi-Linder syndrome, MOPD types I and III, microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Cephaloskeletal dysplasia, MOPD 1, microcephalic osteodysplastic primordial dwarfism types 1 and 3, Brachymelic primordial dwarfism, low-birth-weight dwarfism with skeletal dysplasia, osteodysplastic primordial dwarfism type I, microcephalic osteodysplastic primordial dwarfism type 1
MONDO:0016994
https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1