Metaphyseal dysplasia without hypotrichosis

Preferred Label : Metaphyseal dysplasia without hypotrichosis;

Symbol : MDWH;

CISMeF acronym : CHHV; MDWH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cartilage-hair hypoplasia variant, skeletal manifestations only; Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency; CHHV;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial RNA-processing endoribonuclease gene (RMRP, 157660.0009);

Prefixed ID : #250460;

Details

Origin ID

250460;

UMLS CUI

C1834821;

Currated CISMeF NLP mapping
- Metaphyseal dysplasia without hypotrichosis [ORDO Disease]
- metaphyseal dysplasia without hypotrichosis [MeSH concept]
- metaphyseal dysplasia without hypotrichosis [MeSH Supplementary Concept]
Genes related to phenotype
- Mitochondrial rna-processing endoribonuclease, rna component of [OMIM gene]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormality of pelvic girdle bone morphology [HPO term]
- Abnormality of the immune system [HPO term]
- Abnormality of the vertebral column [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Dwarfism [HPO term]
- Genu varum [HPO term]
- Genu varus [HPO term]
- Joint laxity [HPO term]
- Joint laxity, mild [HPO term]
- Metaphyseal cupping of metacarpals [HPO term]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal irregularity [HPO term]
- Micromelia [HPO term]
- Severe short stature [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
Not associated HPO term(s)
- Abnormal facial shape [HPO term]
- Immunodeficiency [HPO term]
ORDO concept(s)
- Cartilage-hair hypoplasia [ORDO Disease]
- Metaphyseal dysplasia without hypotrichosis [ORDO Disease]
Related ORDO disease(s)
- Cartilage-hair hypoplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal dysplasia without hypotrichosis [ORDO Disease]
- metaphyseal dysplasia without hypotrichosis [MeSH Supplementary Concept]
- metaphyseal dysplasia without hypotrichosis [MeSH concept]

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