Mutchinick syndrome

Preferred Label : Mutchinick syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Intellectual developmental disorder, buenos aires type; Mental retardation, buenos aires type;

Inheritance : Autosomal recessive;

Prefixed ID : 249630;

Details

Origin ID

249630;

UMLS CUI

C0796080;

Currated CISMeF NLP mapping
- Intellectual disability Buenos Aires type (disorder) [SNOMED CT concept]
- Intellectual disability, Buenos-Aires type [ORDO Disease]
- mental retardation, buenos aires type [MeSH concept]
- mental retardation, buenos aires type [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the urinary system [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blond hair [HPO term]
- Blue irides [HPO term]
- Carious teeth [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cuboid-shaped thoracolumbar vertebral bodies [HPO term]
- Curly eyelashes [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Failure to thrive [HPO term]
- Fair hair [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hyperconvex thumb nails [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Intrahepatic biliary atresia [HPO term]
- Long eyelashes [HPO term]
- Long, curly eyelashes [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Myopia [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Prominent nose [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Spastic gait [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Intellectual disability, Buenos-Aires type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability Buenos Aires type (disorder) [SNOMED CT concept]
- Intellectual disability, Buenos-Aires type [ORDO Disease]
- Intellectual disability, Buenos-Aires type [MedDRA LLT]
- Mutchinick syndrome [MedDRA Preferred Term]
- mental retardation, buenos aires type [MeSH Supplementary Concept]
- mental retardation, buenos aires type [MeSH concept]

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