Spondylometaphyseal dysplasia, megarbane-dagher-melki type

Preferred Label : Spondylometaphyseal dysplasia, megarbane-dagher-melki type;

Symbol : SMDMDM;

CISMeF acronym : SMDMDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chondrodysplasia, megarbane-dagher-melki type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the presequence translocase-associated motor 16 gene (PAM16, 614336.0001);

Prefixed ID : #613320;

Details

Origin ID

613320;

UMLS CUI

C2750075;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type [ORDO Disease]
Currated CISMeF NLP mapping
- chondrodysplasia, Megarbane-Dagher-Melki type [MeSH concept]
- chondrodysplasia, Megarbane-Dagher-Melki type [MeSH Supplementary Concept]
Genes related to phenotype
- Presequence translocase-associated motor 16 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Cardiomegaly [HPO term]
- Deep philtrum [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Dysplastic sacrum [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hypertension [HPO term]
- Hypokinesia [HPO term]
- Hypoplastic ischia [HPO term]
- Iliac crest serration [HPO term]
- Large fontanelles [HPO term]
- Low-set ears [HPO term]
- Metaphyseal cupping [HPO term]
- Micromelia [HPO term]
- Microtia [HPO term]
- Narrow chest [HPO term]
- Prominent forehead [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Round face [HPO term]
- Severe platyspondyly [HPO term]
- Short long bone [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
- Squared iliac bones [HPO term]
- Tachypnea [HPO term]
- Vascular dilatation [HPO term]
- Wide nose [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type [ORDO Disease]
- chondrodysplasia, Megarbane-Dagher-Melki type [MeSH Supplementary Concept]
- chondrodysplasia, Megarbane-Dagher-Melki type [MeSH concept]

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