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Aplasia/Hypoplasia of the capital femoral epiphysis

MedGen UID:
Concept ID:
Anatomical Abnormality
Synonyms: Absent/small end part of innermost thighbone; Absent/underdeveloped end part of innermost thighbone
HPO: HP:0005003


Absence or underdevelopment of the proximal epiphysis of the femur. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia/Hypoplasia of the capital femoral epiphysis

Conditions with this feature

Otospondylomegaepiphyseal dysplasia, autosomal recessive
MedGen UID:
Concept ID:
Disease or Syndrome
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005).

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