ICD-10: E80.0

Hirata disease monogenic disease obsolete genetic disorder obsolete peripheral dysostosis Danon disease Farber lipogranulomatosis Donohue syndrome Alstrom syndrome Netherton syndrome Gamstorp-Wohlfart syndrome hypermethioninemia obsolete Majewski syndrome ABCD syndrome Bart-Pumphrey syndrome bestrophinopathy Birk-Barel syndrome Borjeson-Forssman-Lehmann syndrome variable age at onset electroclinical syndrome AGAT deficiency PHGDH deficiency PSAT deficiency PSPH deficiency tyrosinemia type II tyrosinemia type III X-linked monogenic disease Y-linked monogenic disease autosomal genetic disease ARC syndrome Ogden syndrome peroxisomal acyl-CoA oxidase deficiency Kahrizi syndrome Perrault syndrome Townes-Brocks syndrome janus kinase-3 deficiency lambda 5 deficiency Cogan-Reese syndrome Baraitser-Winter syndrome Van Maldergem syndrome UV-sensitive syndrome MASA syndrome Smith-McCort dysplasia peeling skin syndrome Ohdo syndrome Ohdo syndrome, SBBYS variant Rapp-Hodgkin syndrome autosomal dominant sideroblastic anemia 4 CEDNIK syndrome acrorenal syndrome mitochondrial complex III deficiency nuclear type 2 Stormorken syndrome Cole-Carpenter syndrome stromal dystrophy Kindler syndrome MEDNIK syndrome EAST syndrome Holzgreve-Wagner-Rehder Syndrome Yunis-Varon syndrome XFE progeroid syndrome WHIM syndrome 1 Nance-Horan syndrome Prieto syndrome Wilson-Turner syndrome Miles-Carpenter syndrome Christianson syndrome Griscelli syndrome type 1 Griscelli syndrome type 2 Pierson syndrome erythropoietic protoporphyria cutaneous porphyria