Macrocephaly/megalencephaly syndrome, autosomal recessive

Preferred Label : Macrocephaly/megalencephaly syndrome, autosomal recessive;

Symbol : MGCPH;

CISMeF acronym : MGCPH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TBC1 domain family, member 7 gene (TBC1D7, 612655.0001);

Prefixed ID : #248000;

Détails

Origin ID

248000;

UMLS CUI

C3806412;

Currated CISMeF NLP mapping
- Macrocephaly [ICD-10 Sub-category]
- Macrocephaly [PASCAL descriptor]
- Macrocephaly [ICD-11 Subcategory]
- Macrocephaly [ICD-10 Sub-category (who)]
- Macrocephaly [HPO term]
- Macrocephaly [MedDRA Preferred Term]
- Macrocephaly [NCIt concept]
- Macrocephaly (disorder) [SNOMED CT concept]
- Macrocephaly NOS [MedDRA LLT]
- Macroencephaly (disorder) [SNOMED CT concept]
- Megalencephaly [PASCAL descriptor]
- Megalencephaly [ICD-10 Sub-category]
- Megalencephaly [ICD-10 Sub-category (who)]
- Megalencephaly [HPO term]
- Megalencephaly [MeSH Descriptor]
- Megalencephaly [MeSH concept]
- Megalencephaly [ORDO Disease]
- macrocephaly [Disease (Nov.)]
- macrocephaly [SNOMED Notion]
Genes related to phenotype
- Tbc1 domain family, member 7 [OMIM gene]
HPO term(s)
- Abnormality of the musculature [HPO term]
- Adrenal medullary hypoplasia [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad forehead [HPO term]
- Coarse facial features [HPO term]
- Delayed speech and language development [HPO term]
- Depression [HPO term]
- Dolichocephaly [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Megalencephaly [HPO term]
- Myopia [HPO term]
- Optic atrophy [HPO term]
- Patellar subluxation [HPO term]
- Pointed chin [HPO term]
- Psychosis [HPO term]
- Scaphocephaly [HPO term]
Not associated HPO term(s)
- Hydrocephalus [HPO term]
ORDO concept(s)
- Megalencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- megalencephaly [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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