Acrocapitofemoral dysplasia

Preferred Label : Acrocapitofemoral dysplasia;

Symbol : ACFD;

CISMeF acronym : ACFD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Indian hedgehog gene (IHH, 600726.0005);

Prefixed ID : #607778;

Details

Origin ID

607778;

UMLS CUI

C1843096;

Currated CISMeF NLP mapping
- Acrocapitofemoral dysplasia [ICD-11 More detail]
- Acrocapitofemoral dysplasia [ORDO Disease]
- Acrocapitofemoral dysplasia (disorder) [SNOMED CT concept]
- acrocapitofemoral dysplasia [DO Concept]
- acrocapitofemoral dysplasia [MeSH concept]
- acrocapitofemoral dysplasia [MeSH Supplementary Concept]
DO Cross reference
- acrocapitofemoral dysplasia [DO Concept]
Genes related to phenotype
- Indian hedgehog signaling molecule [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad nail [HPO term]
- Cone-shaped capital femoral epiphysis [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Cone-shaped epiphysis [HPO term]
- Cone-shaped epiphysis of the 1st metacarpal [HPO term]
- Cone-shaped metacarpal epiphyses [HPO term]
- Coxa vara [HPO term]
- Cupped ribs [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Disproportionate short stature [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dysplasia of the femoral head [HPO term]
- Enlargement of the distal femoral epiphysis [HPO term]
- Fibular overgrowth [HPO term]
- Flared iliac wing [HPO term]
- Genu varum [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplastic iliac wing [HPO term]
- Ivory and cone-shaped epiphyses [HPO term]
- Lumbar hyperlordosis [HPO term]
- Micromelia [HPO term]
- Narrow chest [HPO term]
- Ovoid vertebral bodies [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Relative macrocephaly [HPO term]
- Scoliosis [HPO term]
- Short distal phalanx of finger [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short femur [HPO term]
- Short humerus [HPO term]
- Short metacarpal [HPO term]
- Short middle phalanx of finger [HPO term]
- Short palm [HPO term]
- Short proximal phalanx of finger [HPO term]
- Short proximal phalanx of thumb [HPO term]
- Short ribs [HPO term]
- Short tibia [HPO term]
- Small finger [HPO term]
- Small, flared iliac wings [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Acrocapitofemoral dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocapitofemoral dysplasia [ORDO Disease]
- Acrocapitofemoral dysplasia [ICD-11 More detail]
- Acrocapitofemoral dysplasia (disorder) [SNOMED CT concept]
- acrocapitofemoral dysplasia [MeSH Supplementary Concept]
- acrocapitofemoral dysplasia [MeSH concept]
- acrocapitofemoral dysplasia [DO Concept]

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