Additional Disease Briefs

Rare Disease Database Reports Additional Rare Disease Briefs

migraine, familial hemiplegic, 2

Also known as: ATP1A2 familial or sporadic hemiplegic migraine, FHM2, Mhp2, familial hemiplegic migraine type 2, familial or sporadic hemiplegic migraine caused by mutation in ATP1A2, hemiplegic migraine, familial type 2, migraine, familial basilar, migraine, familial hemiplegic, 2, migraine, familial hemiplegic, type 2

migraine, familial hemiplegic, 3

Also known as: FHM3, SCN1A familial or sporadic hemiplegic migraine, familial or sporadic hemiplegic migraine caused by mutation in SCN1A, migraine, familial hemiplegic, 3, migraine, familial hemiplegic, type 3

Mikati-Najjar-Sahli syndrome

Also known as: microcephaly-hypergonadotropic hypogonadism-short stature syndrome

mild Canavan disease

Also known as: juvenile Canavan disease

mild hemophilia A

Also known as: mild factor VIII deficiency, mild haemophilia type A, mild hemophilia type A

mild hemophilia B

Also known as: mild factor IX deficiency, mild haemophilia type B, mild hemophilia type B

mild hyperphenylalaninemia

Also known as: mHPA, mild HPA, non-PKU HPA

mild phenylketonuria

Also known as: mPKU, mild PKU, variant PKU, variant phenylketonuria

mild phosphoribosylpyrophosphate synthetase superactivity

Also known as: mild PRPP synthetase superactivity, mild PRPS1 superactivity

mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Also known as: Namaqualand hip dysplasia, OSCDP, osteoarthritis with mild chondrodysplasia