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 |
- |
Date created |
2017-02-10 17:51:36 +01:00 (CET) |
Date last edited |
2021-12-10 21:51:32 +01:00 (CET) |
Individuals
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