Mental retardation, skeletal dysplasia, and abducens palsy

Preferred Label : Mental retardation, skeletal dysplasia, and abducens palsy;

Symbol : MRSD;

CISMeF acronym : CHRS; MRSD;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Christian syndrome; CHRS;

Inheritance : X-linked (Xq28-qter);

Prefixed ID : %309620;

Details

Origin ID

309620;

UMLS CUI

C1839729;

Currated CISMeF NLP mapping
- Skeletal dysplasia with intellectual disability syndrome (disorder) [SNOMED CT concept]
- X-linked skeletal dysplasia-intellectual disability syndrome [ORDO Disease]
- mental retardation, skeletal dysplasia, and abducens palsy [MeSH concept]
- mental retardation, skeletal dysplasia, and abducens palsy [MeSH Supplementary Concept]
HPO term(s)
- Abducens palsy [HPO term]
- Abducens palsy [HPO term]
- Anal atresia [HPO term]
- Fused cervical vertebrae [HPO term]
- Glucose intolerance [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Intellectual disability [HPO term]
- Prominent metopic ridge [HPO term]
- Ridging of metopic suture [HPO term]
- Scoliosis [HPO term]
- Short middle phalanx of finger [HPO term]
- Short stature [HPO term]
- Skeletal dysplasia [HPO term]
- Thoracic hemivertebrae [HPO term]
- Wide nasal bridge [HPO term]
- X-linked inheritance [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- X-linked skeletal dysplasia-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Skeletal dysplasia with intellectual disability syndrome (disorder) [SNOMED CT concept]
- X-linked skeletal dysplasia-intellectual disability syndrome [ORDO Disease]
- mental retardation, skeletal dysplasia, and abducens palsy [MeSH Supplementary Concept]
- mental retardation, skeletal dysplasia, and abducens palsy [MeSH concept]

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