Absent toe phalanx flexion crease

MedGen UID:: 1054487
•Concept ID:: CN378037
•: Finding

HPO:	HP:6000891

Definition

Absence of one or more interphalangeal creases of a toe (i.e., of the transverse lines in the skin between the phalanges of the toes). [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent toe phalanx flexion crease

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of limb bone
    - Abnormal limb bone morphology
      - Abnormal digit morphology
        Abnormal toe morphology
        Absent toe phalanx flexion crease

Conditions with this feature

Hoxha-Aliu syndrome

MedGen UID:: 1846017
•Concept ID:: C5882736
•: Disease or Syndrome

Hoxha-Aliu syndrome (HXAL) is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet (Hoxha and Aliu, 2023; Guo et al., 2023). Biallelic missense mutations in the ERI1 gene have been reported to cause a more severe bone disorder, spondyloepimetaphyseal dysplasia, Guo-Campeau type (SEMDGC; 620663).

See: Condition Record

Hoxha-Aliu syndrome

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Absent toe phalanx flexion crease

Definition

Term Hierarchy

Conditions with this feature

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