MCID: CNG263
MIFTS: 16

Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Summaries for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

MalaCards based summary : Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Affiliated tissues include skin, heart and thyroid, and related phenotypes are congenital hypothyroidism and primary hypothyroidism

Related Diseases for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Symptoms & Phenotypes for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Human phenotypes related to Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypothyroidism 60 33 obligate (100%) Obligate (100%) HP:0000851
2 primary hypothyroidism 60 33 obligate (100%) Obligate (100%) HP:0000832
3 sleep disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002360
4 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
5 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
6 macroglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000158
7 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
8 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
9 hoarse cry 60 33 frequent (33%) Frequent (79-30%) HP:0001615
10 reduced tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001315
11 palpebral edema 60 33 frequent (33%) Frequent (79-30%) HP:0100540
12 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
13 large fontanelles 60 33 frequent (33%) Frequent (79-30%) HP:0000239
14 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
15 prolonged neonatal jaundice 60 33 frequent (33%) Frequent (79-30%) HP:0006579
16 delayed epiphyseal ossification 60 33 frequent (33%) Frequent (79-30%) HP:0002663
17 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
18 hypothermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002045
19 hypotension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002615
20 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
21 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
22 dry skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000958
23 goiter 60 33 occasional (7.5%) Occasional (29-5%) HP:0000853
24 intestinal obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0005214
25 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
26 abnormal pericardium morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001697
27 abnormality of epiphysis morphology 60 Occasional (29-5%)
28 edema 60 Occasional (29-5%)
29 congenital malformation of the left heart 60 Excluded (0%)

Drugs & Therapeutics for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Search Clinical Trials , NIH Clinical Center for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs

Genetic Tests for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Anatomical Context for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

MalaCards organs/tissues related to Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs:

42
Skin, Heart, Thyroid

Publications for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Variations for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Expression for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Search GEO for disease gene expression data for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs.

Pathways for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

GO Terms for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Sources for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....