Phosphoethanolaminuria

Symptom Information:

Symptom ID: HPO:0003239
Synonyms:
Phosphoethanolaminuria [OMIM:Phosphoethanolaminuria]
Quality:
Cross references:
OMIM: "Phosphoethanolaminuria" [OMIM:Phosphoethanolaminuria]
UMLS:C0268412 "Phosphoethanolaminuria" [HPO:0003239]
Is a (Direct Parents):
HPO         Abnormality of urine homeostasis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the urinary system physiology(HPO:0011277)
                Abnormality of urine homeostasis(HPO:0003110)
                   Phosphoethanolaminuria(HPO:0003239)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of urine homeostasis(HPO:0003110)
             Phosphoethanolaminuria(HPO:0003239)
MedDRA:
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

Childhood-onset hypophosphatasia (Orphanet:247667)
Infantile hypophosphatasia (Orphanet:247651)
Perinatal lethal hypophosphatasia (Orphanet:247623)