MCID: CNG339
MIFTS: 14

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

Categories: Endocrine diseases, Rare diseases, Immune diseases, Genetic 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 56

Characteristics:

Orphanet epidemiological data:

56

Classifications:

Orphanet: 56  
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:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
2 large fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000239
3 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 hypothyroidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000821
5 jaundice 56 32 hallmark (90%) Very frequent (99-80%) HP:0000952
6 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 growth delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001510
9 umbilical hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001537
10 constipation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002019
11 abnormality of the immune system 56 32 hallmark (90%) Very frequent (99-80%) HP:0002715
12 abdominal distention 56 32 hallmark (90%) Very frequent (99-80%) HP:0003270
13 hypersomnia 56 32 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:

39
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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