Disease #05224 (COMMAD (COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness)), OMIM:617306)
Official abbreviation |
COMMAD |
Name |
COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) |
OMIM ID |
617306 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal recessive |
Individuals reported having this disease |
2 |
Phenotype entries for this disease |
2 |
Associated with 1 gene |
MITF |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Individuals
|
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