Cousin syndrome

Preferred Label : Cousin syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature; Pelviscapular dysplasia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the T-box 15 gene (TBX15, 604127.0001);

Prefixed ID : #260660;

Details

Origin ID

260660;

UMLS CUI

C1850040;

Currated CISMeF NLP mapping
- Cousin syndrome [Disease (Nov.)]
- Pelviscapular dysplasia [ORDO Disease]
- Pelviscapular dysplasia [MeSH concept]
- Pelviscapular dysplasia syndrome (disorder) [SNOMED CT concept]
- pelviscapular dysplasia [MeSH Supplementary Concept]
Genes related to phenotype
- T-box transcription factor 15 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- 4-5 toe syndactyly [HPO term]
- Abnormal facial shape [HPO term]
- Absent proximal finger flexion creases [HPO term]
- Alveolar ridge overgrowth [HPO term]
- Ambiguous genitalia, female [HPO term]
- Ambiguous genitalia, male [HPO term]
- Anterior rounding of vertebral bodies [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Dislocated radial head [HPO term]
- Disproportionate short stature [HPO term]
- Facial hirsutism [HPO term]
- Fibular aplasia [HPO term]
- Hydranencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic ischia [HPO term]
- Hypoplastic pubic bone [HPO term]
- Hypoplastic scapulae [HPO term]
- Joint contracture of the hand [HPO term]
- Long clavicles [HPO term]
- Mesomelia [HPO term]
- Microcornea [HPO term]
- Microglossia [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Microtia, first degree [HPO term]
- Prominent protruding coccyx [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short palpebral fissure [HPO term]
- Small, simple ears [HPO term]
- Talipes equinovarus [HPO term]
- Toe syndactyly [HPO term]
- Wrist flexion contracture [HPO term]
ORDO concept(s)
- Pelviscapular dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cousin syndrome [Disease (Nov.)]
- Pelviscapular dysplasia [ORDO Disease]
- Pelviscapular dysplasia [MeSH concept]
- Pelviscapular dysplasia syndrome (disorder) [SNOMED CT concept]
- pelviscapular dysplasia [MeSH Supplementary Concept]

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