Spondylometaphyseal dysplasia with cone-rod dystrophy

Preferred Label : Spondylometaphyseal dysplasia with cone-rod dystrophy;

Symbol : SMDCRD;

CISMeF acronym : SMDCRD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphate cytidylyltransferase 1, choline, alpha isoform gene (PCYT1A, 123695.0001);

Prefixed ID : #608940;

Details

Origin ID

608940;

UMLS CUI

C1837073;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia - cone-rod dystrophy [ICD-11 More detail]
- Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ORDO Disease]
- spondylometaphyseal dysplasia with Cone-Rod dystrophy [MeSH concept]
- spondylometaphyseal dysplasia with Cone-Rod dystrophy [MeSH Supplementary Concept]
Genes related to phenotype
- Phosphate cytidylyltransferase 1, choline, alpha isoform [OMIM gene]
HPO term(s)
- Abnormality of macular pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Coxa vara [HPO term]
- Cupped ribs [HPO term]
- Dental malocclusion [HPO term]
- Femoral bowing [HPO term]
- Hypoplastic inferior ilia [HPO term]
- Joint stiffness [HPO term]
- Metaphyseal cupping [HPO term]
- Metaphyseal irregularity [HPO term]
- Metaphyseal widening [HPO term]
- Mild platyspondyly [HPO term]
- Narrow greater sciatic notch [HPO term]
- Nystagmus [HPO term]
- Ovoid vertebral bodies [HPO term]
- Platyspondyly [HPO term]
- Postnatal growth retardation [HPO term]
- Progressive visual loss [HPO term]
- Recurrent otitis media [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Scoliosis [HPO term]
- Severe platyspondyly [HPO term]
- Short finger [HPO term]
- Short metacarpal [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
- Tibial bowing [HPO term]
Not associated HPO term(s)
- Abnormal facial shape [HPO term]
ORDO concept(s)
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [ORDO Disease]
- spondylometaphyseal dysplasia with Cone-Rod dystrophy [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia with Cone-Rod dystrophy [MeSH concept]
- spondylometaphyseal dysplasia with cone-rod dystrophy [DO Concept]

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