Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome

Preferred Label : Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome;

Symbol : MORMS;

CISMeF acronym : MORMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Morm syndrome; Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the inositol polyphosphate-5-phosphatase, 72-kd gene (INPP5E, 613037.0001).;

Prefixed ID : #610156;

Details

Origin ID

610156;

UMLS CUI

C1857802;

Automatic exact mappings (from CISMeF team)
- MORM syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) [SNOMED CT concept]
- MORM syndrome [MeSH concept]
- MORM syndrome [MeSH Supplementary Concept]
- MORM syndrome [ORDO Disease]
Genes related to phenotype
- Inositol polyphosphate-5-phosphatase, 72-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Childhood-onset truncal obesity [HPO term]
- Delayed speech and language development [HPO term]
- Intellectual disability, moderate [HPO term]
- Micropenis [HPO term]
- Reduced visual acuity [HPO term]
- Reduced visual acuity by age 3 years [HPO term]
- Retinal dystrophy [HPO term]
- Truncal obesity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- MORM syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) [SNOMED CT concept]
- MORM syndrome [ORDO Disease]
- MORM syndrome [MeSH Supplementary Concept]
- MORM syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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