Thyroid agenesis

Symptom Information:

Symptom ID: HPO:0008191
Synonyms:
Athyroidal hypothyroidism [HPO:0008191]
Hypothyroidism [HPO:0008191]
Thyroid Agenesis [Orphanet:41180]
Athyroidal hypothyroidism [OMIM:Athyroidal hypothyroidism]
Thyroid agenesis [OMIM:Thyroid agenesis]
Ectopic/agenesis/dysgenesis/hypoplastic thyroid [Orphanet:41180]
Hypothyroidism (20% of adults) [OMIM:Hypothyroidism (20% of adults)]
Hypothyroidism (30% patients) [OMIM:Hypothyroidism (30% patients)]
Hypothyroidism (autoimmune) [OMIM:Hypothyroidism (autoimmune)]
Hypothyroidism (if untreated) [OMIM:Hypothyroidism (if untreated)]
Hypothyroidism (in 1 of 3 siblings) [OMIM:Hypothyroidism (in 1 of 3 siblings)]
Hypothyroidism (in 2/4 patients) [OMIM:Hypothyroidism (in 2/4 patients)]
Hypothyroidism (less common) [OMIM:Hypothyroidism (less common)]
Hypothyroidism (rare) [OMIM:Hypothyroidism (rare)]
Quality:
Cross references:
HPO:0008188 "Thyroid dysgenesis" [Orphanet:41180]
Orphanet:41180 "Ectopic/agenesis/dysgenesis/hypoplastic thyroid" [Orphanet:41180]
OMIM: "Athyroidal hypothyroidism" [OMIM:Athyroidal hypothyroidism]
OMIM: "Thyroid agenesis" [OMIM:Thyroid agenesis]
OMIM: "Hypothyroidism (20% of adults)" [OMIM:Hypothyroidism (20% of adults)]
OMIM: "Hypothyroidism (30% patients)" [OMIM:Hypothyroidism (30% patients)]
OMIM: "Hypothyroidism (autoimmune)" [OMIM:Hypothyroidism (autoimmune)]
OMIM: "Hypothyroidism (if untreated)" [OMIM:Hypothyroidism (if untreated)]
OMIM: "Hypothyroidism (in 1 of 3 siblings)" [OMIM:Hypothyroidism (in 1 of 3 siblings)]
OMIM: "Hypothyroidism (in 2/4 patients)" [OMIM:Hypothyroidism (in 2/4 patients)]
OMIM: "Hypothyroidism (less common)" [OMIM:Hypothyroidism (less common)]
OMIM: "Hypothyroidism (rare)" [OMIM:Hypothyroidism (rare)]
UMLS:C0020676 "Hypothyroidism" [HPO:0008191]
UMLS:C0749420 "Thyroid Agenesis" [Orphanet:41180]
Is a (Direct Parents):
HPO         Thyroid dysgenesis
Orphanet Thyroid hypoplasia
Orphanet Abnormality of the thyroid gland
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 agenesis(HPO:0008191)
MedDRA:
Database Frequency: 11 / 7739
Resource:

All diseases associated with this symptom:

17p11.2 microduplication syndrome (Orphanet:1713)
Bamforth syndrome (Orphanet:1226)
DIGEORGE SYNDROME (OMIM:188400)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Johanson-Blizzard syndrome (Orphanet:2315)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Short stature - pituitary and cerebellar defects - small sella turcica (Orphanet:85442)
Thyroid ectopia (Orphanet:95712)
Thyroid hemiagenesis (Orphanet:95719)
Townes-Brocks syndrome (Orphanet:857)