Acromesomelic dysplasia 1

Preferred Label : Acromesomelic dysplasia 1;

Symbol : AMD1;

CISMeF acronym : AMDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : St. helena dysplasia; AMDM; Acromesomelic dysplasia, maroteaux type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the natriuretic peptide receptor B gene (NPR2, 108961.0001);

Prefixed ID : #602875;

Details

Origin ID

602875;

UMLS CUI

C1864356;

Currated CISMeF NLP mapping
- Acromesomelic dysplasia Maroteaux type (disorder) [SNOMED CT concept]
- Acromesomelic dysplasia, Maroteaux type [ICD-11 More detail]
- Acromesomelic dysplasia, Maroteaux type [MeSH concept]
- Acromesomelic dysplasia, Maroteaux type [ORDO Disease]
- acromesomelic dysplasia, Maroteaux type [DO Concept]
- acromesomelic dysplasia, maroteaux type [MeSH Supplementary Concept]
DO Cross reference
- acromesomelic dysplasia, Maroteaux type [DO Concept]
Genes related to phenotype
- Natriuretic peptide receptor 2 [OMIM gene]
HPO term(s)
- Acromesomelia [HPO term]
- Anterior beaking of vertebral bodies [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies [HPO term]
- Broad finger [HPO term]
- Broad metacarpals [HPO term]
- Broad metatarsal [HPO term]
- Broad phalanx [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Disproportionate short stature [HPO term]
- Flared metaphysis [HPO term]
- Frontal bossing [HPO term]
- Genu varus [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the toes [HPO term]
- Joint laxity [HPO term]
- Limited elbow extension [HPO term]
- Long hallux [HPO term]
- Lower thoracic kyphosis [HPO term]
- Lumbar hyperlordosis [HPO term]
- Ovoid vertebral bodies [HPO term]
- Progressive shortening of radius in first year [HPO term]
- Prominent forehead [HPO term]
- Radial bowing [HPO term]
- Redundant skin on fingers [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short nail [HPO term]
- Short nose [HPO term]
- Short phalanx of finger [HPO term]
- Short toe [HPO term]
- Short, broad fingers [HPO term]
- Short, broad metacarpals [HPO term]
- Short, broad metatarsals [HPO term]
- Short, wide phalanges [HPO term]
- Thoracolumbar interpediculate narrowness [HPO term]
- Thoracolumbar kyphosis [HPO term]
Not associated HPO term(s)
- Abnormality of skull size [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Acromesomelic dysplasia, Maroteaux type [ORDO Disease]
See also inter- (CISMeF)
- NPR2 wt Allele [NCIt concept]
- symbol withdrawn AMDM [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acromesomelic dysplasia Maroteaux type (disorder) [SNOMED CT concept]
- Acromesomelic dysplasia, Maroteaux type [ORDO Disease]
- Acromesomelic dysplasia, Maroteaux type [MeSH concept]
- Acromesomelic dysplasia, Maroteaux type [ICD-11 More detail]
- acromesomelic dysplasia, Maroteaux type [DO Concept]
- acromesomelic dysplasia, maroteaux type [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- acromesomelic dysplasia [MeSH Supplementary Concept]

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