Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

Preferred Label : Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;

Symbol : COMMAD;

CISMeF acronym : COMMAD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the microphthalmia-associated transcription factor gene (MIFT, 156845.0003);

Prefixed ID : #617306;

Details

Origin ID

617306;

UMLS CUI

C4310625;

Genes related to phenotype
- Microphthalmia-associated transcription factor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coloboma [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Osteopetrosis [HPO term]
- Posteriorly rotated ears [HPO term]
- Preauricular pit [HPO term]
- Shallow orbits [HPO term]
ORDO concept(s)
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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