METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE

http://purl.bioontology.org/ontology/OMIM/250800

METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE

NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE I

METHEMOGLOBINEMIA, TYPE I

NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY

METHEMOGLOBINEMIA, TYPE II

NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY

NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE II

C2749561

C0268193

C2749560

C2749562

C2749559

22q13.31-qter

CYB5R3

DIA1

B5R

http://purl.bioontology.org/ontology/OMIM/MTHU011520

http://purl.bioontology.org/ontology/OMIM/MTHU011526

http://purl.bioontology.org/ontology/OMIM/MTHU011524

http://purl.bioontology.org/ontology/OMIM/MTHU011518

http://purl.bioontology.org/ontology/OMIM/MTHU028219

http://purl.bioontology.org/ontology/OMIM/MTHU028217

http://purl.bioontology.org/ontology/OMIM/MTHU000166

http://purl.bioontology.org/ontology/OMIM/MTHU028220

http://purl.bioontology.org/ontology/OMIM/MTHU011519

http://purl.bioontology.org/ontology/OMIM/MTHU042026

http://purl.bioontology.org/ontology/OMIM/MTHU011517

http://purl.bioontology.org/ontology/OMIM/MTHU011515

http://purl.bioontology.org/ontology/OMIM/MTHU028218

http://purl.bioontology.org/ontology/OMIM/MTHU011527

http://purl.bioontology.org/ontology/OMIM/MTHU011521

http://purl.bioontology.org/ontology/OMIM/MTHU011525

http://purl.bioontology.org/ontology/OMIM/MTHU006480

http://purl.bioontology.org/ontology/OMIM/MTHU036837

http://purl.bioontology.org/ontology/OMIM/MTHU028221

http://purl.bioontology.org/ontology/OMIM/MTHU036348

http://purl.bioontology.org/ontology/OMIM/MTHU011514

Phenotype description, molecular basis known.

250800

3

pound

METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE

T047