Brachyolmia type 1, toledo type

Preferred Label : Brachyolmia type 1, toledo type;

Symbol : BCYM1B;

CISMeF acronym : BCYM1B;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Paps-chondroitin sulfate sulfotransferase deficiency; Sed, chondroitin sulfate type; Spondyloepiphyseal dysplasia tarda, toledo type;

Description : For a phenotypic description and discussion of heterogeneity of brachyolmia, see 271530.;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides);

Prefixed ID : %271630;

Details

Origin ID

271630;

UMLS CUI

C1849048;

Automatic exact mappings (from CISMeF team)
- Brachyolmia type 1, Toledo type [MedDRA LLT]
CISMeF manual mappings
- Brachyolmia type 1 Toledo type (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachyolmia type 1, Toledo type [ICD-11 More detail]
- Brachyolmia type 1, Toledo type [ORDO Disease]
- Spondyloepiphyseal dysplasia tarda, Toledo type [MeSH concept]
- brachyolmia type 1 Toledo type [Disease (Nov.)]
- spondyloepiphyseal dysplasia tarda, toledo type [MeSH Supplementary Concept]
DO Cross reference
- brachyolmia [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Back pain [HPO term]
- Broad tibial metaphyses [HPO term]
- Childhood-onset short-trunk short stature [HPO term]
- Corneal opacity [HPO term]
- Disproportionate short stature (short trunk), identifiable in childhood [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Gait disturbance [HPO term]
- Increased urinary disaccharide excretion [HPO term]
- Intervertebral space narrowing [HPO term]
- Irregular vertebral endplates [HPO term]
- Kyphoscoliosis [HPO term]
- Opacification of the corneal stroma [HPO term]
- Precocious costochondral ossification [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short neck [HPO term]
- Short trunk [HPO term]
- Squared-off platyspondyly [HPO term]
Not associated HPO term(s)
- Abnormality of the odontoid process [HPO term]
ORDO concept(s)
- Autosomal recessive brachyolmia [ORDO Disease]
- Brachyolmia type 1, Toledo type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachyolmia type 1 Toledo type (disorder) [Inactive SNOMED CT concept]
- Brachyolmia type 1, Toledo type [ORDO Disease]
- Brachyolmia type 1, Toledo type [ICD-11 More detail]
- Brachyolmia type 1, Toledo type [MedDRA LLT]
- Spondyloepiphyseal dysplasia tarda, Toledo type [MeSH concept]
- brachyolmia type 1 Toledo type [Disease (Nov.)]
- spondyloepiphyseal dysplasia tarda, toledo type [MeSH Supplementary Concept]

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