Acromesomelic dysplasia 2c

Preferred Label : Acromesomelic dysplasia 2c;

Symbol : AMD2C;

CISMeF acronym : AMDH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : AMDH ACROMESOMELIC DWARFISM; Acromesomelic dysplasia, hunter-thompson type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the growth/differentiation factor-5 gene (GDF5, 601146.0001);

Prefixed ID : #201250;

Details

Origin ID

201250;

UMLS CUI

C2930970;

Currated CISMeF NLP mapping
- Acromesomelic Dysplasia, Hunter-Thompson Type [MeSH concept]
- Acromesomelic dysplasia Hunter-Thompson type (disorder) [SNOMED CT concept]
- Acromesomelic dysplasia, Hunter-Thompson type [ORDO Disease]
- Acromesomelic dysplasia, Hunter-Thomson type [ICD-11 More detail]
- acromesomelic dysplasia, Hunter-Thompson type [DO Concept]
DO Cross reference
- acromesomelic dysplasia, Hunter-Thompson type [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 5 [OMIM gene]
HPO term(s)
- Abnormally shaped carpal bones [HPO term]
- Acromesomelia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cuboidal metacarpal [HPO term]
- Distal femoral bowing [HPO term]
- Elbow dislocation [HPO term]
- Fibular hypoplasia [HPO term]
- Hip dislocation [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Radial bowing [HPO term]
- Severe short-limb dwarfism [HPO term]
- Short feet [HPO term]
- Short foot [HPO term]
- Short thumb [HPO term]
- Short tibia [HPO term]
- Shortening of all middle phalanges of the fingers [HPO term]
- Shortening of all proximal phalanges of the fingers [HPO term]
- Single transverse palmar crease [HPO term]
ORDO concept(s)
- Acromesomelic dysplasia, Hunter-Thompson type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acromesomelic dysplasia [MeSH concept]
- Acromesomelic dysplasia Hunter-Thompson type (disorder) [SNOMED CT concept]
- Acromesomelic dysplasia group (disorder) [SNOMED CT concept]
- Acromesomelic dysplasia, Hunter-Thompson type [ORDO Disease]
- Acromesomelic dysplasia, Hunter-Thomson type [ICD-11 More detail]
- Acromesomelic dysplasias [ICD-11 Subcategory]
- acromesomelic dysplasia [MeSH Supplementary Concept]
- acromesomelic dysplasia [DO Concept]
- acromesomelic dysplasia, Hunter-Thompson type [DO Concept]
Validated automatic mappings to NTBT
- Acromesomelic dysplasia [MeSH concept]
- Acromesomelic dysplasia group (disorder) [SNOMED CT concept]
- Acromesomelic dysplasias [ICD-11 Subcategory]
- acromesomelic dysplasia [MeSH Supplementary Concept]
- acromesomelic dysplasia [DO Concept]

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