Greenberg dysplasia

Preferred Label : Greenberg dysplasia;

Symbol : GRBGD;

CISMeF acronym : GRBGD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Moth-eaten skeletal dysplasia; Hydrops-ectopic calcification-moth-eaten skeletal dysplasia; Hem skeletal dysplasia; Chondrodystrophy, hydropic and prenatally lethal type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lamin B receptor (LBR, 600024.0003);

Laboratory abnormalities : Elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts;

Prefixed ID : #215140;

Détails

Origin ID

215140;

UMLS CUI

C2931048;

Automatic exact mappings (from CISMeF team)
- Greenberg dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Greenberg dysplasia [ICD-11 More detail]
- Greenberg dysplasia [ORDO Disease]
- Greenberg dysplasia (disorder) [SNOMED CT concept]
- HEM dysplasia [MeSH Supplementary Concept]
DO Cross reference
- Greenberg dysplasia [DO Concept]
Genes related to phenotype
- Lamin b receptor [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormal lung lobation [HPO term]
- Abnormal scapula morphology [HPO term]
- Absent distal phalanges [HPO term]
- Absent or minimally ossified vertebral bodies [HPO term]
- Antenatal onset [HPO term]
- Anterior and posterior rib flaring [HPO term]
- Anterior rib punctate calcifications [HPO term]
- Barrel-shaped chest [HPO term]
- Beaded ribs [HPO term]
- Bone marrow hypocellularity [HPO term]
- Brachydactyly [HPO term]
- Broad palm [HPO term]
- Cartilaginous ossification of larynx [HPO term]
- Costal cartilage calcification [HPO term]
- Cystic hygroma [HPO term]
- Decreased skull ossification [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal ridge [HPO term]
- Diaphyseal bowing of long bones [HPO term]
- Diaphyseal thickening [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Echogenic fetal bowel [HPO term]
- Ectopic calcification [HPO term]
- Ectopic ossification [HPO term]
- Epiphyseal stippling [HPO term]
- Fetal onset [HPO term]
- Flared metaphysis [HPO term]
- Flattened nasal bridge [HPO term]
- Fractured rib [HPO term]
- Hepatic calcification [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- High forehead [HPO term]
- Horizontal sacrum [HPO term]
- Hydrops fetalis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the calcaneus [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Increased nuchal translucency [HPO term]
- Large placenta [HPO term]
- Laryngeal calcification [HPO term]
- Lethal skeletal dysplasia [HPO term]
- Long clavicles [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Mesomelia [HPO term]
- Metaphyseal cupping [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Midface retrusion [HPO term]
- Multiple prenatal fractures [HPO term]
- Narrow chest [HPO term]
- Neonatal death [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Pancreatic islet-cell hyperplasia [HPO term]
- Patchy variation in bone mineral density [HPO term]
- Platyspondyly [HPO term]
- Polyhydramnios [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Prominent supraorbital ridges [HPO term]
- Protuberant abdomen [HPO term]
- Pulmonary hypoplasia [HPO term]
- Punctate vertebral calcifications [HPO term]
- Recurrent fractures [HPO term]
- Retrognathia [HPO term]
- Rhizomelia [HPO term]
- Sclerosis of skull base [HPO term]
- Severe hydrops fetalis [HPO term]
- Severe short-limb dwarfism [HPO term]
- Short finger [HPO term]
- Short limb dwarfism [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Short ribs [HPO term]
- Sternal punctate calcifications [HPO term]
- Stillbirth [HPO term]
- Supernumerary vertebral ossification centers [HPO term]
- Talipes [HPO term]
- Tetraphocomelia [HPO term]
- Thoracic hypoplasia [HPO term]
- Toxemia of pregnancy [HPO term]
- Tracheal calcification [HPO term]
- Ulnar deviation of the hand [HPO term]
- extramedullary erythropoiesis [HPO term]
ORDO concept(s)
- Greenberg dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Greenberg dysplasia [ORDO Disease]
- Greenberg dysplasia [ICD-11 More detail]
- Greenberg dysplasia [DO Concept]
- Greenberg dysplasia (disorder) [SNOMED CT concept]
- HEM dysplasia [MeSH concept]
- HEM dysplasia [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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