Microphthalmia, syndromic 5

Preferred Label : Microphthalmia, syndromic 5;

Symbol : MCOPS5;

CISMeF acronym : MCOPS5;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinal dystrophy, early-onset, with or without pituitary dysfunction;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the drosophila orthodenticle 2 gene (OTX2, 600038.0001);

Prefixed ID : #610125;

Détails

Origin ID

610125;

UMLS CUI

C1864690;

Automatic exact mappings (from CISMeF team)
- OTX2 wt Allele [NCIt concept]
- Syndromic microphthalmia due to OTX2 mutation [ICD-11 More detail]
- syndromic microphthalmia 5 [DO Concept]
Currated CISMeF NLP mapping
- Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) [SNOMED CT concept]
- Syndromic microphthalmia type 5 [ORDO Disease]
- microphthalmia, syndromic 5 [MeSH concept]
- microphthalmia, syndromic 5 [MeSH Supplementary Concept]
DO Cross reference
- syndromic microphthalmia 5 [DO Concept]
Genes related to phenotype
- Orthodenticle homeobox 2 [OMIM gene]
HPO term(s)
- Anophthalmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Coloboma [HPO term]
- Cryptorchidism [HPO term]
- Ectopic posterior pituitary [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Joint laxity [HPO term]
- Microcornea [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Optic nerve hypoplasia [HPO term]
- Retinal dystrophy [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Butterfly-shaped pigment dystrophy [ORDO Disease]
- Syndromic microphthalmia type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) [SNOMED CT concept]
- Syndromic microphthalmia type 5 [ORDO Disease]
- microphthalmia, syndromic 5 [MeSH Supplementary Concept]
- microphthalmia, syndromic 5 [MeSH concept]
- syndromic microphthalmia 5 [DO Concept]

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

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