Thyroid hypoplasia

Symptom Information:

Symptom ID: HPO:0005990
Synonyms:
Hypoplastic thyroid [HPO:0005990]
Hypoplasia of thyroid (disorder) [Orphanet:41180]
Thyroid Hypoplasia [Orphanet:41180]
Hypoplastic thyroid [OMIM:Hypoplastic thyroid]
Ectopic/agenesis/dysgenesis/hypoplastic thyroid [Orphanet:41180]
Thyroid hypoplasia [Orphanet:41180]
Congenital hypothyroidism [MedDRA:10010510]
Cretinism [MedDRA:10010510]
Hypothyroidism congenital [MedDRA:10010510]
Thyroid hypoplasia [MedDRA:10010510]
Hypothyroidism, congenital (1 patient) [OMIM:Hypothyroidism, congenital (1 patient)]
Quality:
Cross references:
Orphanet:41180 "Ectopic/agenesis/dysgenesis/hypoplastic thyroid" [Orphanet:41180]
OMIM: "Hypoplastic thyroid" [OMIM:Hypoplastic thyroid]
OMIM: "Hypothyroidism, congenital (1 patient)" [OMIM:Hypothyroidism, congenital (1 patient)]
UMLS:C0151516 "Thyroid Hypoplasia" [Orphanet:41180]
Is a (Direct Parents):
Orphanet Abnormality of the thyroid gland
MedDRA Thyroid hypofunction disorders
HPO         Thyroid dysgenesis
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 morphology(HPO:0011772)
                Thyroid dysgenesis(HPO:0008188)
                   Thyroid hypoplasia(HPO:0005990)
MedDRA:
Endocrine disorders(MedDRA:10014698)
    Thyroid gland disorders(MedDRA:10043739)
       Thyroid hypofunction disorders(MedDRA:10043741)
          Thyroid hypoplasia(HPO:0005990)
Database Frequency: 21 / 7739
Resource:

All diseases associated with this symptom:

ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Athyreosis (Orphanet:95713)
Bamforth syndrome (Orphanet:1226)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
CHILD syndrome (Orphanet:139)
Congenital hypothyroidism (Orphanet:442)
Congenital hypothyroidism due to developmental anomaly (Orphanet:95711)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hypothyroidism due to TSH receptor mutations (Orphanet:90673)
Leprechaunism (Orphanet:508)
PHACE syndrome (Orphanet:42775)
Permanent congenital hypothyroidism (Orphanet:226292)
Primary congenital hypothyroidism (Orphanet:226295)
Stüve-Wiedemann syndrome (Orphanet:3206)
Thyroid ectopia (Orphanet:95712)
Thyroid hemiagenesis (Orphanet:95719)
Thyroid hypoplasia (Orphanet:95720)
Treacher-Collins syndrome (Orphanet:861)
Williams syndrome (Orphanet:904)