Anauxetic dysplasia 1

Preferred Label : Anauxetic dysplasia 1;

Symbol : ANXD1;

CISMeF acronym : ANXD; ANXD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondylometaepiphyseal dysplasia, menger type; ANXD; Anauxetic dysplasia; Spondylometaepiphyseal dysplasia, anauxetic type; Spondyloepimetaphyseal dysplasia, anauxetic type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial RNA-processing endoribonuclease (RMRP, 157660.0018);

Laboratory abnormalities : Abnormal columnization of chondrocytes; Dilated rough endoplasmic reticulum (RER);

Prefixed ID : #607095;

Details

Origin ID

607095;

UMLS CUI

C4551965;

Currated CISMeF NLP mapping
- Anauxetic dysplasia [MeSH concept]
- anauxetic dysplasia [MeSH Supplementary Concept]
- anauxetic dysplasia 1 [DO Concept]
DO Cross reference
- anauxetic dysplasia 1 [DO Concept]
Genes related to phenotype
- Mitochondrial rna-processing endoribonuclease, rna component of [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Cervical cord compression [HPO term]
- Cervical subluxation [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Disproportionate short stature [HPO term]
- Flared metaphysis [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypoplastic ilia [HPO term]
- Intellectual disability [HPO term]
- J-shaped sella turcica [HPO term]
- Platyspondyly [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short finger [HPO term]
- Short neck [HPO term]
- Short stature, severe disproportionate [HPO term]
- Short toe [HPO term]
- Small epiphyses [HPO term]
ORDO concept(s)
- Anauxetic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anauxetic dysplasia [ORDO Disease]
- Anauxetic dysplasia [MeSH concept]
- anauxetic dysplasia [MeSH Supplementary Concept]
- anauxetic dysplasia 1 [DO Concept]
Validated automatic mappings to NTBT
- Anauxetic dysplasia [ICD-11 More detail]
- Anauxetic dysplasia [ORDO Disease]
- Spondyloepimetaphyseal dysplasia anauxetic type (disorder) [SNOMED CT concept]

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