Camurati-engelmann disease 2

Preferred Label : Camurati-engelmann disease 2;

Symbol : CAEND2;

CISMeF acronym : CAEND2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #606631;

Details

Origin ID

606631;

UMLS CUI

C2931683;

Automatic exact mappings (from CISMeF team)
- Camurati Engelmann disease, type 2 [MeSH concept]
- camurati engelmann disease, type 2 [MeSH Supplementary Concept]
DO Cross reference
- Camurati-Engelmann disease [DO Concept]
Genes related to phenotype
- Transforming growth factor, beta-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Delayed puberty [HPO term]
- Disproportionate tall stature [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Hip contracture [HPO term]
- Hyperostosis [HPO term]
- Hypogonadism [HPO term]
- Knee flexion contracture [HPO term]
- Lower limb pain [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Muscle weakness [HPO term]
- Osteopenia [HPO term]
- Skeletal muscle atrophy [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Waddling gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camurati Engelmann disease, type 2 [MeSH concept]
- camurati engelmann disease, type 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Camurati-Engelmann disease [DO Concept]
- Camurati-Engelmann disease [ORDO Disease]

Keyword's position in hierarchy(ies) :

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