Miller syndrome

Preferred Label : Miller syndrome;

CISMeF acronym : POADS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Genee-wiedemann syndrome; POADS; Postaxial acrofacial dysostosis;

Description : Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dihydroorotate dehydrogenase gene (DHODH, 126064.0001);

Prefixed ID : #263750;

Détails

Origin ID

263750;

UMLS CUI

C0265257;

Automatic exact mappings (from CISMeF team)
- Postaxial acrofacial dysostosis [ICD-11 More detail]
- postaxial acrofacial dysostosis [DO Concept]
Currated CISMeF NLP mapping
- Genee-Wiedemann syndrome [MeSH concept]
- Genee-Wiedemann syndrome [MeSH Supplementary Concept]
- Miller syndrome [Disease (Nov.)]
- Miller syndrome (disorder) [SNOMED CT concept]
- Postaxial acrofacial dysostosis [ORDO Disease]
- miller syndrome [SNOMED Notion]
DO Cross reference
- postaxial acrofacial dysostosis [DO Concept]
Genes related to phenotype
- Dihydroorotate dehydrogenase [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the kidney [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital hip dislocation [HPO term]
- Conical tooth [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Downslanted palpebral fissures [HPO term]
- Ectropion [HPO term]
- Eyelid coloboma [HPO term]
- Growth delay [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Midgut malrotation [HPO term]
- Pectus excavatum [HPO term]
- Postnatal growth retardation [HPO term]
- Pyloric stenosis [HPO term]
- Radioulnar synostosis [HPO term]
- Short thumb [HPO term]
- Supernumerary nipple [HPO term]
- Supernumerary vertebrae [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Postaxial acrofacial dysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Genee-Wiedemann syndrome [MeSH Supplementary Concept]
- Genee-Wiedemann syndrome [MeSH concept]
- Miller syndrome [Disease (Nov.)]
- Miller syndrome (disorder) [SNOMED CT concept]
- Postaxial acrofacial dysostosis [ORDO Disease]
- miller syndrome [SNOMED Notion]
- postaxial acrofacial dysostosis [DO Concept]

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

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