Spondyloepiphyseal dysplasia, maroteaux type

Preferred Label : Spondyloepiphyseal dysplasia, maroteaux type;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sed, maroteaux type; Pseudo-morquio syndrome, type 2;

Inheritance : Autosomal dominant;

Prefixed ID : #184095;

Details

Origin ID

184095;

UMLS CUI

C3159322;

Automatic exact mappings (from CISMeF team)
- spondyloepiphyseal dysplasia Maroteaux type [DO Concept]
Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia Maroteaux type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Maroteaux type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, Maroteaux type [ORDO Disease]
- brachyolmia type 2 [MeSH Supplementary Concept]
DO Cross reference
- spondyloepiphyseal dysplasia Maroteaux type [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Autosomal dominant inheritance [HPO term]
- Corneal opacity [HPO term]
- Genu valgum [HPO term]
- Mucopolysacchariduria [HPO term]
- Platyspondyly [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
- Mucopolysacchariduria [HPO term]
- Opacification of the corneal stroma [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia, Maroteaux type [ORDO Disease]
See also inter- (CISMeF)
- Brachyolmia type 2 [ICD-11 More detail]
- brachyolmia type 2 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachyolmia - Maroteaux type (disorder) [SNOMED CT concept]
- Brachyolmia type 2 [ICD-11 More detail]
- Brachyolmia, Maroteaux type [ORDO Disease]
- Brachyolmia, Maroteaux type [MedDRA LLT]
- Spondyloepiphyseal dysplasia Maroteaux type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Maroteaux type [ORDO Disease]
- Spondyloepiphyseal dysplasia, Maroteaux type [ICD-11 More detail]
- brachyolmia type 2 [MeSH Supplementary Concept]
- brachyolmia type 2 [MeSH concept]
- brachyolmia type 2 [Disease (Nov.)]
- spondyloepiphyseal dysplasia Maroteaux type [DO Concept]

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