MCID: CNG339
MIFTS: 14

Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies

Categories: Rare diseases, Endocrine diseases, Immune diseases

Aliases & Classifications for Congenital Hypothyroidism Due to Transplacental Passage of...

MalaCards integrated aliases for Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies:

Name: Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 55

Characteristics:

Orphanet epidemiological data:

55

Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Congenital Hypothyroidism Due to Transplacental Passage of...

MalaCards based summary : Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies and has symptoms including macroglossia, large fontanelles and coarse facial features. Affiliated tissues include thyroid.

Related Diseases for Congenital Hypothyroidism Due to Transplacental Passage of...

Symptoms & Phenotypes for Congenital Hypothyroidism Due to Transplacental Passage of...

Human phenotypes related to Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies:

55 31 (show all 13)
# 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 umbilical hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001537
10 constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002019
11 abnormality of the immune system 55 31 hallmark (90%) Very frequent (99-80%) HP:0002715
12 abdominal distention 55 31 hallmark (90%) Very frequent (99-80%) HP:0003270
13 hypersomnia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100786

Drugs & Therapeutics for Congenital Hypothyroidism Due to Transplacental Passage of...

Search Clinical Trials , NIH Clinical Center for Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies

Genetic Tests for Congenital Hypothyroidism Due to Transplacental Passage of...

Anatomical Context for Congenital Hypothyroidism Due to Transplacental Passage of...

MalaCards organs/tissues related to Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies:

38
Thyroid

Publications for Congenital Hypothyroidism Due to Transplacental Passage of...

Variations for Congenital Hypothyroidism Due to Transplacental Passage of...

Expression for Congenital Hypothyroidism Due to Transplacental Passage of...

Search GEO for disease gene expression data for Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies.

Pathways for Congenital Hypothyroidism Due to Transplacental Passage of...

GO Terms for Congenital Hypothyroidism Due to Transplacental Passage of...

Sources for Congenital Hypothyroidism Due to Transplacental Passage of...

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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