Congenital hypothyroidism

Symptom Information:

Symptom ID: HPO:0000851
Synonyms:
Hypothyroidism, congenital [HPO:0000851]
Congenital hypothyroidism [OMIM:Congenital hypothyroidism]
Hypothyroidism, congenital [OMIM:Hypothyroidism, congenital]
Hypothyroidism, congenital (1 patient) [OMIM:Hypothyroidism, congenital (1 patient)]
Quality:
Cross references:
OMIM: "Congenital hypothyroidism" [OMIM:Congenital hypothyroidism]
OMIM: "Hypothyroidism, congenital" [OMIM:Hypothyroidism, congenital]
OMIM: "Hypothyroidism, congenital (1 patient)" [OMIM:Hypothyroidism, congenital (1 patient)]
Is a (Direct Parents):
HPO         Hypothyroidism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the endocrine system(HPO:0000818)
          Abnormality of the thyroid gland(HPO:0000820)
             Abnormality of thyroid physiology(HPO:0002926)
                Hypothyroidism(HPO:0000821)
                   Congenital hypothyroidism(HPO:0000851)
MedDRA:
Database Frequency: 16 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM,AND TRACHEAL STENOSIS (OMIM:601427)
Brain-lung-thyroid syndrome (Orphanet:209905)
Fetal iodine syndrome (Orphanet:1910)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Hypothyroidism due to TSH receptor mutations (Orphanet:90673)
Isolated thyroid-stimulating hormone deficiency (Orphanet:90674)
KABUKI SYNDROME 1 (OMIM:147920)
Kabuki syndrome (Orphanet:2322)
Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys (Orphanet:79118)
PHACE syndrome (Orphanet:42775)
Permanent neonatal diabetes mellitus (Orphanet:99885)
THYROID DYSHORMONOGENESIS 6 (OMIM:607200)
Thyroid ectopia (Orphanet:95712)