- ABCD syndromemondoMONDO:0010895
- ABCD syndromeefoMONDO:0010895
- ABCD syndromeprideMONDO:0010895
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Ontology
Search results for: MONDO:0010895
ABCD syndromeMONDO:0010895
http://purl.obolibrary.org/obo/MONDO_0010895
An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).
Ontology: mondo
http://purl.obolibrary.org/obo/MONDO_0010895
An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).
Ontology: efo
Also appears in:pride
http://purl.obolibrary.org/obo/MONDO_0010895
An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).
Ontology: pride
Also appears in:efo