MCID: IDP061
MIFTS: 11

Idiopathic Congenital Hypothyroidism

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Idiopathic Congenital Hypothyroidism

MalaCards integrated aliases for Idiopathic Congenital Hypothyroidism:

Name: Idiopathic Congenital Hypothyroidism 55

Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Idiopathic Congenital Hypothyroidism

MalaCards based summary : Idiopathic Congenital Hypothyroidism and has symptoms including macroglossia, large fontanelles and coarse facial features.

Related Diseases for Idiopathic Congenital Hypothyroidism

Symptoms & Phenotypes for Idiopathic Congenital Hypothyroidism

Human phenotypes related to Idiopathic Congenital Hypothyroidism:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000158
2 large fontanelles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000239
3 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 hypothyroidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000821
5 jaundice 55 31 hallmark (90%) Very frequent (99-80%) HP:0000952
6 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
7 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 growth delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001510
9 constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002019
10 abdominal distention 55 31 hallmark (90%) Very frequent (99-80%) HP:0003270
11 hypersomnia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100786
12 abnormality of the face 55 Very frequent (99-80%)

Drugs & Therapeutics for Idiopathic Congenital Hypothyroidism

Search Clinical Trials , NIH Clinical Center for Idiopathic Congenital Hypothyroidism

Genetic Tests for Idiopathic Congenital Hypothyroidism

Anatomical Context for Idiopathic Congenital Hypothyroidism

Publications for Idiopathic Congenital Hypothyroidism

Variations for Idiopathic Congenital Hypothyroidism

Expression for Idiopathic Congenital Hypothyroidism

Search GEO for disease gene expression data for Idiopathic Congenital Hypothyroidism.

Pathways for Idiopathic Congenital Hypothyroidism

GO Terms for Idiopathic Congenital Hypothyroidism

Sources for Idiopathic Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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