Microgastria-limb reduction defects association

Preferred Label : Microgastria-limb reduction defects association;

Symbol : MLRD;

CISMeF acronym : MLRD;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Isolated cases;

Prefixed ID : 156810;

Détails

Origin ID

156810;

UMLS CUI

C1834929;

Currated CISMeF NLP mapping
- Microgastria limb reduction defect [MeSH concept]
- Microgastria-limb reduction defect syndrome [ORDO Disease]
- microgastria limb reduction defect [MeSH Supplementary Concept]
HPO term(s)
- Abnormal lung lobation [HPO term]
- Absent gallbladder [HPO term]
- Absent thumb [HPO term]
- Aganglionic megacolon [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anophthalmia [HPO term]
- Arrhinencephaly [HPO term]
- Asplenia [HPO term]
- Bicornuate uterus [HPO term]
- Biliary tract abnormality [HPO term]
- Cryptorchidism [HPO term]
- Cystic renal dysplasia [HPO term]
- Failure to thrive [HPO term]
- Fusion of the left and right thalami [HPO term]
- Gastroesophageal reflux [HPO term]
- Hand oligodactyly [HPO term]
- Horseshoe kidney [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Intestinal malrotation [HPO term]
- Isolated cases [HPO term]
- Microgastria [HPO term]
- Pelvic kidney [HPO term]
- Phocomelia [HPO term]
- Polymicrogyria [HPO term]
- Porencephalic cyst [HPO term]
- Secundum atrial septal defect [HPO term]
- Splenogonadal fusion [HPO term]
- Sporadic [HPO term]
- Type I truncus arteriosus [HPO term]
- Unilateral renal agenesis [HPO term]
ORDO concept(s)
- Microgastria-limb reduction defect syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microgastria limb reduction defect [MeSH concept]
- Microgastria-limb reduction defect syndrome [ORDO Disease]
- microgastria limb reduction defect [MeSH Supplementary Concept]

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

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