Three M syndrome 2

Preferred Label : Three M syndrome 2;

Symbol : 3M2;

CISMeF acronym : 3M2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 3m syndrome 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the obscurin-like 1 gene (OBSL1, 610991.0001);

Prefixed ID : #612921;

Details

Origin ID

612921;

UMLS CUI

C2752041;

Automatic exact mappings (from CISMeF team)
- 3M syndrome [ORDO Disease]
Broader ORDO disease(s)
- 3M syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- three M syndrome 2 [MeSH concept]
- three M syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- 3-M syndrome [DO Concept]
Genes related to phenotype
- Obscurin-like 1 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Fetal onset [HPO term]
- Frontal bossing [HPO term]
- High palate [HPO term]
- Hyperlordosis [HPO term]
- Intrauterine growth retardation [HPO term]
- J-shaped sella turcica [HPO term]
- Long philtrum [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malar flattening [HPO term]
- Pectus carinatum [HPO term]
- Pointed chin [HPO term]
- Prominent calcaneus [HPO term]
- Prominent forehead [HPO term]
- Prominent nasal tip [HPO term]
- Protruding ear [HPO term]
- Relative macrocephaly [HPO term]
- Scapular winging [HPO term]
- Severe short stature [HPO term]
- Short 5th finger [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Short thorax [HPO term]
- Slender long bone [HPO term]
- Small for gestational age [HPO term]
- Thick vermilion border [HPO term]
- Thin ribs [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- 3M syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- three M syndrome 2 [MeSH Supplementary Concept]
- three M syndrome 2 [MeSH concept]

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