Microphthalmia, syndromic 13

Preferred Label : Microphthalmia, syndromic 13;

Symbol : MCOPS13;

CISMeF acronym : MCOPS13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Maine microphthalmos; Colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the high-mobility group box 3 gene (HMGB3, 300193.0001);

Prefixed ID : #300915;

Details

Origin ID

300915;

UMLS CUI

C3806742;

Automatic exact mappings (from CISMeF team)
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome [ORDO Disease]
- syndromic microphthalmia 13 [DO Concept]
DO Cross reference
- syndromic microphthalmia 13 [DO Concept]
Genes related to phenotype
- High mobility group box 3 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anteverted ears [HPO term]
- Coloboma [HPO term]
- Diastema [HPO term]
- Esotropia [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Pendular nystagmus [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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