Human Phenotype Ontology 
Grandparent Node:
expandPhenotypic abnormality (HP:0000118)help
Parent Node:
expandAbnormality of metabolism/homeostasis (HP:0001939)help
..Starting node
..expandMolybdenum cofactor deficiency (HP:0003570)help
Term ID: 3570
Name: Molybdenum cofactor deficiency
Synonym:
Definition: Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.
Comments:
Reference: HP:0003570
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal blood ion concentration (HP:0003111) help
..expandAbnormal calcium-phosphate regulating hormone level (HP:0100530) help
..expandAbnormal cellular physiology (HP:0011017) help
..expandAbnormal circulating carbohydrate concentration (HP:0011013) help
..expandAbnormal circulating carboxylic acid concentration (HP:0004354) help
..expandAbnormal circulating lipid concentration (HP:0003119) help
..expandAbnormal circulating nitrogen compound concentration (HP:0004364) help
..expandAbnormal circulating nucleobase concentration (HP:0010932) help
..expandAbnormal circulating porphyrin concentration (HP:0010472) help
..expandAbnormal circulating protein concentration (HP:0010876) help
..expandAbnormal circulating selenium concentration (HP:0031903) help
..expandAbnormal enzyme/coenzyme activity (HP:0012379) help
..expandAbnormal erythrocyte sedimentation rate (HP:0025021) help
..expandAbnormal homeostasis (HP:0012337) help
..expandAbnormal sweat homeostasis (HP:0040127) help
..expandAbnormality of acid-base homeostasis (HP:0004360) help
..expandAbnormality of fluid regulation (HP:0011032) help
..expandAbnormality of Krebs cycle metabolism (HP:0000816) help
..expandAbnormality of superoxide metabolism (HP:0004358) help
..expandAbnormality of temperature regulation (HP:0004370) help
..expandAbnormality of urine homeostasis (HP:0003110) help
..expandAbnormality of vitamin metabolism (HP:0100508) help
..expandAmyloidosis (HP:0011034) help
..expandBloodstream infectious agent (HP:0031863) help
..expandFood intolerance (HP:0012537) help
..expandGangrene (HP:0100758) help
..expandHyperbilirubinemia (HP:0002904) help
..expandIncreased level of propylene glycol in blood (HP:0410069) help
..expandKetosis (HP:0001946) help
..expandobsolete Abnormality of glycoprotein metabolism (HP:0004367) help
..expandPresence of xenobiotic (HP:0031838) help
..expandReduced 5-oxoprolinase level (HP:0040142) help
..expandReduced acetaldehyde dehydrogenase level (HP:0003533) help
..expandReduced glutathione synthetase level (HP:0003343) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003570HP:0003570Molybdenum cofactor deficiency0GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C.18
HP:0003570HP:0003570Molybdenum cofactor deficiency0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0003570HP:0003570Molybdenum cofactor deficiency0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26


Genes (3) :GPHN MOCS1 MOCS2

Diseases (3) :OMIM:615501 OMIM:252150 OMIM:252160
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.