Congenital hypoparathyroidism

Symptom Information:

Symptom ID: HPO:0008198
Synonyms:
Neonatal hypoparathyroidism [HPO:0008198]
Congenital hypoparathyroidism [OMIM:Congenital hypoparathyroidism]
Neonatal hypoparathyroidism [OMIM:Neonatal hypoparathyroidism]
Congenital hypoparathyroidism [MedDRA:10051315]
Neonatal hypoparathyroidism [MedDRA:10056974]
Quality:
Cross references:
OMIM: "Congenital hypoparathyroidism" [OMIM:Congenital hypoparathyroidism]
OMIM: "Neonatal hypoparathyroidism" [OMIM:Neonatal hypoparathyroidism]
Is a (Direct Parents):
MedDRA Neonatal metabolic and endocrine disorders
MedDRA Endocrine disorders congenital NEC
HPO         Hypoparathyroidism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the endocrine system(HPO:0000818)
          Abnormality of the parathyroid gland(HPO:0000828)
             Abnormality of the parathyroid physiology(HPO:0011767)
                Hypoparathyroidism(HPO:0000829)
                   Congenital hypoparathyroidism(HPO:0008198)
MedDRA:
Pregnancy, puerperium and perinatal conditions(MedDRA:10036585)
    Neonatal and perinatal conditions(MedDRA:10028920)
       Neonatal metabolic and endocrine disorders(MedDRA:10028961)
          Congenital hypoparathyroidism(HPO:0008198)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Endocrine disorders congenital(MedDRA:10014699)
       Endocrine disorders congenital NEC(MedDRA:10027671)
          Congenital hypoparathyroidism(HPO:0008198)
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

Autosomal recessive Kenny-Caffey syndrome (Orphanet:93324)
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (Orphanet:2239)
Sanjad-Sakati syndrome (Orphanet:2323)