Human Phenotype Ontology 
Grandparent Node:
expandAbnormal levels of alpha-fetoprotein (HP:0045056)help
Parent Node:
expandElevated alpha-fetoprotein (HP:0006254)help
..Starting node
..expandElevated amniotic fluid alpha-fetoprotein (HP:0004639)help
Term ID: 4639
Name: Elevated amniotic fluid alpha-fetoprotein
Synonym: Elevated amniotic fluid alpha fetal protein; Elevated amniotic fluid alpha foetal protein; Elevated amniotic fluid alpha-1-fetoprotein; Elevated amniotic fluid alpha-fetoglobulin
Definition: An elevation of alpha-feto protein measured in the amniotic fluid.
Comments:
Reference: HP:0004639
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandElevated maternal serum alpha-fetoprotein (HP:0005984) 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:0004639HP:0004639Elevated amniotic fluid alpha-fetoprotein0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0004639HP:0004639Elevated amniotic fluid alpha-fetoprotein0NPHS1 CL E G H48687908ORPHA:839Congenital nephrotic syndrome, Finnish typeHP:0040281 - Very frequent241
HP:0004639HP:0004639Elevated amniotic fluid alpha-fetoprotein0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0004639HP:0004639Elevated amniotic fluid alpha-fetoprotein0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49


Genes (4) :MKS1 NPHS1 OCRL PRPS1

Diseases (4) :OMIM:249000 ORPHA:839 OMIM:309000 ORPHA:423479
 

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