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Defective ACY1 causes encephalopathyDefective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4)Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)Defective CYP19A1 causes Aromatase excess syndrome (AEXS)Defective CYP1B1 causes GlaucomaDefective CYP21A2 causes Adrenal hyperplasia 3 (AH3)Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)Defective FMO3 causes Trimethylaminuria (TMAU)Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)Defective GGT1 causes Glutathionuria (GLUTH)Defective GSS causes Glutathione synthetase deficiency (GSS deficiency)Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD)Defective MAOA causes Brunner syndrome (BRUNS)Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD)Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD)Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency)Defective UGT1A1 causes hyperbilirubinemiaDefective UGT1A4 causes hyperbilirubinemiaDefective GGT1 causes Glutathionuria (GLUTH)_R-HSA-5579029
P361
Q45316460-BC253A86-A503-4A98-996E-00A1B468D9C7Q45316463-DDCDC613-0D57-42A6-8064-4FC69CAC7834Q45316464-EEFBAA4C-C6F5-4C85-B724-B6BF1F995A74Q45316465-AEA3687E-3C5F-4076-AC7A-9899566502A3Q45316466-08D7CB9E-E4BB-4401-83B7-DCFB077DC169Q45316467-8286CBDD-0C85-4535-823B-5868D18D4040Q45316468-4ADE0B22-542A-4809-9CDC-4E87023F62B4Q45316469-FC03A4A6-5DD0-4499-8474-372505116005Q45316470-5ED5D479-3CCB-4871-9987-B04F866B5178Q45316471-3AF3C0A1-1D7F-4468-A4EE-A4A95853EF13Q45316472-2A43273E-829A-4AC8-9E8C-3D7C0E4E4B24Q45316474-DFC425FD-953B-4F10-8B44-BC326272116AQ45316475-A69EA9D6-9EBB-40B0-9470-74AD2088BE91Q45316477-E3E3F43C-0BCD-475E-A2EE-1B86685B8862Q45316478-638E548E-62EA-4528-87E8-3385A57D33C6Q45316479-02D15467-00CE-4C25-BAAA-ADB6722A9948Q45316481-3FAF1A12-AC32-4C86-B57E-051C3ABA9F67Q45316482-128D0488-C389-4C48-84DD-28FF1CFD3DA0Q45316483-A7C23B77-16D1-4A7A-B447-8B205B52F75FQ45316484-DA8B583B-778F-48C7-A835-76DC259A36A3Q45316486-F829576F-56C3-4B92-9055-2639D133FBE1Q45316487-0E0EE762-68C6-4022-8FD1-99861BF9A27FQ45316489-5998EDDC-008B-4431-978D-731A2443B3CBQ45316490-733ACED5-DF3A-4750-90D6-826EA4305DD0Q45316491-582C7B8F-7AA7-4D1A-A5E0-3C42F9CA3367Q45316492-653E1A34-6058-42DF-ACAE-0972CA10A058Q45316493-017C6D36-4392-4C0D-9B36-683C1E1C3F7EQ45316494-D0CE77E6-A15A-4E38-B692-34E0EF44892CQ45316495-9CE79F33-81CA-4BCC-8EA1-AAF866139861Q45316497-B0A1F55D-A493-4AFA-828F-2C3737D9A456Q45316498-0C2ED6E1-9893-4E03-ACE1-985C0D90BA68Q56860927-B01ADFD1-CC71-4B7B-B09A-8059AEECB7E3
P361
description
An instance of the biological ...... dation enzymes in Homo sapiens
@en
name
Metabolic disorders of biological oxidation enzymes
@en
type
label
Metabolic disorders of biological oxidation enzymes
@en
prefLabel
Metabolic disorders of biological oxidation enzymes
@en
P2860
P527
P2860
P3937
R-HSA-5579029