Thyroid hormone receptor defect

Symptom Information:

Symptom ID: HPO:0002930
Synonyms:
End-organ unresponsiveness to thyroid hormone [HPO:0002930]
Resistance to thyroid hormone [HPO:0002930]
Thyroid hormone resistance [HPO:0002930]
End-organ unresponsiveness to thyroid hormone [OMIM:End-organ unresponsiveness to thyroid hormone]
Thyroid hormone resistance [OMIM:Thyroid hormone resistance]
Quality:
Cross references:
OMIM: "End-organ unresponsiveness to thyroid hormone" [OMIM:End-organ unresponsiveness to thyroid hormone]
OMIM: "Thyroid hormone resistance" [OMIM:Thyroid hormone resistance]
Is a (Direct Parents):
HPO         Abnormality of thyroid physiology
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)
                Thyroid hormone receptor defect(HPO:0002930)
MedDRA:
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

Generalized resistance to thyroid hormone (Orphanet:3221)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Selective pituitary resistance to thyroid hormone (Orphanet:165994)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)