Acheiropody - CISMeF

Preferred Label : Acheiropody;

Symbol : ACHP;

CISMeF acronym : ACHP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ACHEIROPODIA; Acheiropody, brazilian type;

Description : Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the mouse limb region 1 gene (LMBR1, 605522.0001);

Prefixed ID : #200500;

Details

Origin ID

200500;

UMLS CUI

C0265559;

Automatic exact mappings (from CISMeF team)
- limb development membrane protein 1 [ORDO Gene]
- limb development membrane protein 1 [HGNC gene]
Currated CISMeF NLP mapping
- Acheiropodia [ICD-11 More detail]
- Acheiropodia [MeSH concept]
- Acheiropodia [ORDO Disease]
- Acheiropodia (disorder) [SNOMED CT concept]
- Acheiropody [MedDRA LLT]
- acheiropodia [MeSH Supplementary Concept]
- acheiropodia [SNOMED Notion]
- acheiropody [DO Concept]
DO Cross reference
- acheiropody [DO Concept]
Genes related to phenotype
- Limb development membrane protein 1 [OMIM gene]
HPO term(s)
- Absent forearm [HPO term]
- Absent hand [HPO term]
- Absent metatarsal bone [HPO term]
- Absent radius [HPO term]
- Absent toe [HPO term]
- Aplasia of metacarpal bones [HPO term]
- Aplasia of the phalanges of the hand [HPO term]
- Aplasia of the tarsal bones [HPO term]
- Aplasia of the ulna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carpal bone aplasia [HPO term]
- Fibular aplasia [HPO term]
- Lower limb peromelia [HPO term]
- Peromelia [HPO term]
- Short humerus [HPO term]
- Short tibia [HPO term]
ORDO concept(s)
- Acheiropodia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Acheiropodia [ORDO Disease]
- Acheiropodia [MeSH concept]
- Acheiropodia (disorder) [SNOMED CT concept]
- Acheiropody [MedDRA LLT]
- acheiropodia [MeSH Supplementary Concept]
- acheiropodia [SNOMED Notion]
- acheiropody [DO Concept]

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